Incidental Mutation 'R7831:Slit2'
| ID |
605608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slit2
|
| Ensembl Gene |
ENSMUSG00000031558 |
| Gene Name |
slit guidance ligand 2 |
| Synonyms |
Drad-1, Slil3, E130320P19Rik, E030015M03Rik |
| MMRRC Submission |
045885-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7831 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
47983138-48307733 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48244683 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 805
(T805A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033967]
[ENSMUST00000170109]
[ENSMUST00000172493]
[ENSMUST00000173107]
[ENSMUST00000174313]
[ENSMUST00000174421]
|
| AlphaFold |
Q9R1B9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033967
AA Change: T793A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000033967
Gene: ENSMUSG00000031558
AA Change: T793A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
|
LRR
|
53 |
77 |
1.41e2 |
SMART |
|
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
|
LRR
|
102 |
125 |
2.45e0 |
SMART |
|
LRR
|
126 |
149 |
9.96e-1 |
SMART |
|
LRR
|
154 |
173 |
1.29e2 |
SMART |
|
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
|
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
|
LRRNT
|
272 |
304 |
4.55e-8 |
SMART |
|
LRR
|
298 |
322 |
3e1 |
SMART |
|
LRR_TYP
|
323 |
346 |
1.95e-3 |
SMART |
|
LRR_TYP
|
347 |
370 |
2.24e-3 |
SMART |
|
LRR
|
371 |
394 |
1.31e0 |
SMART |
|
LRR
|
395 |
418 |
2.49e-1 |
SMART |
|
LRRCT
|
430 |
479 |
1.88e-6 |
SMART |
|
LRRNT
|
497 |
529 |
1.45e-6 |
SMART |
|
LRR_TYP
|
549 |
572 |
1.38e-3 |
SMART |
|
LRR
|
597 |
620 |
9.96e-1 |
SMART |
|
LRR_TYP
|
621 |
644 |
2.71e-2 |
SMART |
|
LRRCT
|
656 |
705 |
3.56e-7 |
SMART |
|
LRRNT
|
718 |
750 |
3.69e-8 |
SMART |
|
LRR
|
768 |
791 |
7.36e0 |
SMART |
|
LRR_TYP
|
792 |
815 |
5.59e-4 |
SMART |
|
LRR_TYP
|
816 |
839 |
7.9e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170109
AA Change: T805A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000127615
Gene: ENSMUSG00000031558
AA Change: T805A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
|
LRR
|
53 |
77 |
1.41e2 |
SMART |
|
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
|
LRR
|
102 |
125 |
2.45e0 |
SMART |
|
LRR
|
126 |
149 |
9.96e-1 |
SMART |
|
LRR
|
154 |
173 |
1.29e2 |
SMART |
|
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
|
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
|
LRRNT
|
272 |
304 |
4.55e-8 |
SMART |
|
LRR
|
298 |
322 |
3e1 |
SMART |
|
LRR_TYP
|
323 |
346 |
1.95e-3 |
SMART |
|
LRR_TYP
|
347 |
370 |
2.24e-3 |
SMART |
|
LRR
|
371 |
394 |
1.31e0 |
SMART |
|
LRR
|
395 |
418 |
2.49e-1 |
SMART |
|
LRRCT
|
430 |
479 |
1.88e-6 |
SMART |
|
LRRNT
|
497 |
529 |
1.45e-6 |
SMART |
|
LRR_TYP
|
549 |
572 |
1.38e-3 |
SMART |
|
LRR
|
597 |
620 |
9.96e-1 |
SMART |
|
LRR_TYP
|
621 |
644 |
2.71e-2 |
SMART |
|
LRRCT
|
656 |
705 |
3.56e-7 |
SMART |
|
LRRNT
|
718 |
750 |
3.69e-8 |
SMART |
|
LRR
|
768 |
791 |
7.36e0 |
SMART |
|
LRR_TYP
|
792 |
815 |
5.59e-4 |
SMART |
|
LRR_TYP
|
816 |
839 |
7.9e-4 |
SMART |
|
LRRCT
|
851 |
900 |
3.9e-13 |
SMART |
|
EGF
|
913 |
947 |
3.73e-5 |
SMART |
|
EGF
|
952 |
988 |
4.35e-6 |
SMART |
|
EGF_CA
|
990 |
1026 |
2.21e-7 |
SMART |
|
FOLN
|
993 |
1015 |
5.84e1 |
SMART |
|
EGF
|
1031 |
1066 |
1.07e-5 |
SMART |
|
EGF_CA
|
1068 |
1104 |
3.97e-9 |
SMART |
|
FOLN
|
1116 |
1138 |
2.22e0 |
SMART |
|
EGF
|
1116 |
1149 |
1.62e-5 |
SMART |
|
LamG
|
1172 |
1308 |
4.82e-39 |
SMART |
|
EGF
|
1327 |
1360 |
3.68e-4 |
SMART |
|
EGF
|
1366 |
1399 |
3.88e-3 |
SMART |
|
FOLN
|
1407 |
1429 |
3.34e0 |
SMART |
|
EGF
|
1407 |
1440 |
4.46e-3 |
SMART |
|
CT
|
1451 |
1520 |
4.23e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172493
AA Change: T45A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134655
Gene: ENSMUSG00000031558
AA Change: T45A
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
20 |
43 |
3.1e-2 |
SMART |
|
LRR_TYP
|
44 |
67 |
2.4e-6 |
SMART |
|
LRR_TYP
|
68 |
91 |
3.2e-6 |
SMART |
|
LRRCT
|
103 |
152 |
1.8e-15 |
SMART |
|
EGF
|
176 |
210 |
1.8e-7 |
SMART |
|
EGF
|
215 |
251 |
2.1e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173107
AA Change: T793A
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133840
Gene: ENSMUSG00000031558
AA Change: T793A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
|
LRR
|
53 |
77 |
1.41e2 |
SMART |
|
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
|
LRR
|
102 |
125 |
2.45e0 |
SMART |
|
LRR
|
126 |
149 |
9.96e-1 |
SMART |
|
LRR
|
154 |
173 |
1.29e2 |
SMART |
|
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
|
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
|
LRRNT
|
272 |
304 |
4.55e-8 |
SMART |
|
LRR
|
298 |
322 |
3e1 |
SMART |
|
LRR_TYP
|
323 |
346 |
1.95e-3 |
SMART |
|
LRR_TYP
|
347 |
370 |
2.24e-3 |
SMART |
|
LRR
|
371 |
394 |
1.31e0 |
SMART |
|
LRR
|
395 |
418 |
2.49e-1 |
SMART |
|
LRRCT
|
430 |
479 |
1.88e-6 |
SMART |
|
LRRNT
|
505 |
537 |
1.45e-6 |
SMART |
|
LRR_TYP
|
557 |
580 |
1.38e-3 |
SMART |
|
LRR
|
605 |
628 |
9.96e-1 |
SMART |
|
LRR_TYP
|
629 |
652 |
2.71e-2 |
SMART |
|
LRRCT
|
664 |
713 |
3.56e-7 |
SMART |
|
LRRNT
|
726 |
758 |
3.69e-8 |
SMART |
|
LRR
|
776 |
799 |
7.36e0 |
SMART |
|
LRR_TYP
|
800 |
823 |
5.59e-4 |
SMART |
|
LRR_TYP
|
824 |
847 |
7.9e-4 |
SMART |
|
LRRCT
|
859 |
908 |
3.9e-13 |
SMART |
|
EGF
|
921 |
955 |
3.73e-5 |
SMART |
|
EGF
|
960 |
996 |
4.35e-6 |
SMART |
|
EGF_CA
|
998 |
1034 |
2.21e-7 |
SMART |
|
FOLN
|
1001 |
1023 |
5.84e1 |
SMART |
|
EGF
|
1039 |
1074 |
1.07e-5 |
SMART |
|
EGF_CA
|
1076 |
1112 |
3.97e-9 |
SMART |
|
FOLN
|
1124 |
1146 |
2.22e0 |
SMART |
|
EGF
|
1124 |
1157 |
1.62e-5 |
SMART |
|
LamG
|
1180 |
1316 |
4.82e-39 |
SMART |
|
EGF
|
1335 |
1368 |
3.68e-4 |
SMART |
|
EGF
|
1374 |
1407 |
3.88e-3 |
SMART |
|
FOLN
|
1415 |
1437 |
3.34e0 |
SMART |
|
EGF
|
1415 |
1448 |
4.46e-3 |
SMART |
|
CT
|
1459 |
1528 |
4.23e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174313
AA Change: T797A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000133912
Gene: ENSMUSG00000031558
AA Change: T797A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
|
LRR
|
53 |
77 |
1.41e2 |
SMART |
|
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
|
LRR
|
102 |
125 |
2.45e0 |
SMART |
|
LRR
|
126 |
149 |
9.96e-1 |
SMART |
|
LRR
|
154 |
173 |
1.29e2 |
SMART |
|
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
|
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
|
LRRNT
|
276 |
308 |
4.55e-8 |
SMART |
|
LRR
|
302 |
326 |
3e1 |
SMART |
|
LRR_TYP
|
327 |
350 |
1.95e-3 |
SMART |
|
LRR_TYP
|
351 |
374 |
2.24e-3 |
SMART |
|
LRR
|
375 |
398 |
1.31e0 |
SMART |
|
LRR
|
399 |
422 |
2.49e-1 |
SMART |
|
LRRCT
|
434 |
483 |
1.88e-6 |
SMART |
|
LRRNT
|
501 |
533 |
1.45e-6 |
SMART |
|
LRR_TYP
|
553 |
576 |
1.38e-3 |
SMART |
|
LRR
|
601 |
624 |
9.96e-1 |
SMART |
|
LRR_TYP
|
625 |
648 |
2.71e-2 |
SMART |
|
LRRCT
|
660 |
709 |
3.56e-7 |
SMART |
|
LRRNT
|
722 |
754 |
3.69e-8 |
SMART |
|
LRR
|
772 |
795 |
7.36e0 |
SMART |
|
LRR_TYP
|
796 |
819 |
5.59e-4 |
SMART |
|
LRR_TYP
|
820 |
843 |
7.9e-4 |
SMART |
|
LRRCT
|
855 |
904 |
3.9e-13 |
SMART |
|
EGF
|
917 |
951 |
3.73e-5 |
SMART |
|
EGF
|
956 |
992 |
4.35e-6 |
SMART |
|
EGF_CA
|
994 |
1030 |
2.21e-7 |
SMART |
|
FOLN
|
997 |
1019 |
5.84e1 |
SMART |
|
EGF
|
1035 |
1070 |
1.07e-5 |
SMART |
|
EGF_CA
|
1072 |
1108 |
3.97e-9 |
SMART |
|
FOLN
|
1120 |
1142 |
2.22e0 |
SMART |
|
EGF
|
1120 |
1153 |
1.62e-5 |
SMART |
|
LamG
|
1176 |
1312 |
4.82e-39 |
SMART |
|
EGF
|
1331 |
1364 |
3.68e-4 |
SMART |
|
EGF
|
1370 |
1403 |
3.88e-3 |
SMART |
|
FOLN
|
1411 |
1433 |
3.34e0 |
SMART |
|
EGF
|
1411 |
1444 |
4.46e-3 |
SMART |
|
CT
|
1455 |
1524 |
4.23e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174421
AA Change: T805A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000134263
Gene: ENSMUSG00000031558
AA Change: T805A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LRRNT
|
27 |
59 |
6.53e-9 |
SMART |
|
LRR
|
53 |
77 |
1.41e2 |
SMART |
|
LRR_TYP
|
78 |
101 |
1.79e-2 |
SMART |
|
LRR
|
102 |
125 |
2.45e0 |
SMART |
|
LRR
|
126 |
149 |
9.96e-1 |
SMART |
|
LRR
|
154 |
173 |
1.29e2 |
SMART |
|
LRR_TYP
|
174 |
197 |
2.05e-2 |
SMART |
|
LRRCT
|
209 |
258 |
3.42e-9 |
SMART |
|
LRRNT
|
276 |
308 |
4.55e-8 |
SMART |
|
LRR
|
302 |
326 |
3e1 |
SMART |
|
LRR_TYP
|
327 |
350 |
1.95e-3 |
SMART |
|
LRR_TYP
|
351 |
374 |
2.24e-3 |
SMART |
|
LRR
|
375 |
398 |
1.31e0 |
SMART |
|
LRR
|
399 |
422 |
2.49e-1 |
SMART |
|
LRRCT
|
434 |
483 |
1.88e-6 |
SMART |
|
LRRNT
|
509 |
541 |
1.45e-6 |
SMART |
|
LRR_TYP
|
561 |
584 |
1.38e-3 |
SMART |
|
LRR
|
609 |
632 |
9.96e-1 |
SMART |
|
LRR_TYP
|
633 |
656 |
2.71e-2 |
SMART |
|
LRRCT
|
668 |
717 |
3.56e-7 |
SMART |
|
LRRNT
|
730 |
762 |
3.69e-8 |
SMART |
|
LRR
|
780 |
803 |
7.36e0 |
SMART |
|
LRR_TYP
|
804 |
827 |
5.59e-4 |
SMART |
|
LRR_TYP
|
828 |
851 |
7.9e-4 |
SMART |
|
LRRCT
|
863 |
912 |
3.9e-13 |
SMART |
|
EGF
|
925 |
959 |
3.73e-5 |
SMART |
|
EGF
|
964 |
1000 |
4.35e-6 |
SMART |
|
EGF_CA
|
1002 |
1047 |
4.74e-7 |
SMART |
|
FOLN
|
1005 |
1027 |
5.84e1 |
SMART |
|
EGF
|
1052 |
1087 |
1.07e-5 |
SMART |
|
EGF_CA
|
1089 |
1125 |
3.97e-9 |
SMART |
|
FOLN
|
1137 |
1159 |
2.22e0 |
SMART |
|
EGF
|
1137 |
1170 |
1.62e-5 |
SMART |
|
LamG
|
1193 |
1329 |
4.82e-39 |
SMART |
|
EGF
|
1348 |
1381 |
3.68e-4 |
SMART |
|
EGF
|
1387 |
1420 |
3.88e-3 |
SMART |
|
FOLN
|
1428 |
1450 |
3.34e0 |
SMART |
|
EGF
|
1428 |
1461 |
4.46e-3 |
SMART |
|
CT
|
1472 |
1541 |
4.23e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (87/87) |
| MGI Phenotype |
Strain: 2179460
FUNCTION: The protein encoded by this gene is a member of the Slit family of secreted glycoproteins, which function as ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance and neuronal migration and may also have functions during other cell migration processes including leukocyte migration. In mammals, members of the slit family are characterized by an N-terminal signal peptide, four leucine-rich repeats, nine epidermal growth factor repeats, and a C-terminal cysteine knot. Mice deficient for this gene exhibit abnormal axonal projections in the embryonic forebrain and develop supernumerary uretic buds that maintain improper connections to the nephric duct. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutants display perinatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and hydroureter. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,297,404 (GRCm38) |
V2384I |
possibly damaging |
Het |
| Acsl1 |
A |
G |
8: 46,519,006 (GRCm38) |
D297G |
probably benign |
Het |
| Ap2a1 |
C |
A |
7: 44,901,012 (GRCm38) |
R944L |
probably damaging |
Het |
| Apbb1ip |
A |
G |
2: 22,866,921 (GRCm38) |
Y398C |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 59,773,753 (GRCm38) |
V968D |
probably damaging |
Het |
| Becn1 |
T |
C |
11: 101,290,453 (GRCm38) |
T341A |
probably benign |
Het |
| Card11 |
G |
T |
5: 140,873,412 (GRCm38) |
S1126R |
possibly damaging |
Het |
| Ccdc51 |
T |
C |
9: 109,091,990 (GRCm38) |
L315S |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,249,827 (GRCm38) |
L1298P |
unknown |
Het |
| Cep170b |
A |
T |
12: 112,744,800 (GRCm38) |
D1538V |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,935,956 (GRCm38) |
F348I |
possibly damaging |
Het |
| Clip1 |
A |
T |
5: 123,613,279 (GRCm38) |
M813K |
|
Het |
| Col19a1 |
G |
A |
1: 24,526,482 (GRCm38) |
T256I |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,796,546 (GRCm38) |
C2027* |
probably null |
Het |
| Crisp4 |
A |
T |
1: 18,128,789 (GRCm38) |
N140K |
probably benign |
Het |
| Crocc2 |
G |
T |
1: 93,215,473 (GRCm38) |
A1266S |
probably benign |
Het |
| Cyfip2 |
G |
A |
11: 46,196,446 (GRCm38) |
R1206C |
probably damaging |
Het |
| Cyp24a1 |
T |
A |
2: 170,485,940 (GRCm38) |
M461L |
probably damaging |
Het |
| Cyp2a5 |
C |
T |
7: 26,835,515 (GRCm38) |
T51I |
possibly damaging |
Het |
| Cyp2b19 |
C |
T |
7: 26,767,140 (GRCm38) |
H398Y |
possibly damaging |
Het |
| Cyp4a29 |
G |
A |
4: 115,250,170 (GRCm38) |
V234I |
probably benign |
Het |
| Dicer1 |
T |
G |
12: 104,708,800 (GRCm38) |
K734N |
probably damaging |
Het |
| Dnai1 |
T |
C |
4: 41,614,695 (GRCm38) |
|
probably null |
Het |
| Entpd3 |
G |
A |
9: 120,543,959 (GRCm38) |
G14D |
probably damaging |
Het |
| Entrep3 |
G |
A |
3: 89,184,213 (GRCm38) |
|
probably null |
Het |
| Ermp1 |
T |
C |
19: 29,617,967 (GRCm38) |
T634A |
probably benign |
Het |
| Evc |
C |
T |
5: 37,319,083 (GRCm38) |
G374D |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 28,106,979 (GRCm38) |
T2124K |
probably damaging |
Het |
| Fgf8 |
G |
A |
19: 45,742,437 (GRCm38) |
P50S |
probably benign |
Het |
| Fmnl1 |
C |
T |
11: 103,198,173 (GRCm38) |
R1074W |
unknown |
Het |
| Galnt18 |
C |
T |
7: 111,556,458 (GRCm38) |
V223M |
possibly damaging |
Het |
| Galnt2 |
A |
G |
8: 124,332,078 (GRCm38) |
N295S |
probably benign |
Het |
| Grip1 |
T |
G |
10: 120,018,106 (GRCm38) |
V600G |
probably damaging |
Het |
| Insm2 |
T |
A |
12: 55,600,538 (GRCm38) |
C356S |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,291,584 (GRCm38) |
I1672F |
probably benign |
Het |
| Kdm1b |
T |
G |
13: 47,050,622 (GRCm38) |
N76K |
probably benign |
Het |
| Khnyn |
T |
A |
14: 55,887,846 (GRCm38) |
|
probably null |
Het |
| Kidins220 |
C |
T |
12: 25,061,231 (GRCm38) |
A1167V |
possibly damaging |
Het |
| Krt40 |
T |
C |
11: 99,541,261 (GRCm38) |
D208G |
probably benign |
Het |
| Lars1 |
T |
A |
18: 42,217,562 (GRCm38) |
D894V |
probably benign |
Het |
| Lmx1a |
A |
T |
1: 167,840,952 (GRCm38) |
N266I |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 48,168,249 (GRCm38) |
K246M |
probably benign |
Het |
| Mrpl2 |
G |
A |
17: 46,648,672 (GRCm38) |
G176R |
possibly damaging |
Het |
| Muc21 |
T |
A |
17: 35,618,759 (GRCm38) |
T1512S |
unknown |
Het |
| Nell1 |
T |
A |
7: 49,982,800 (GRCm38) |
F60L |
possibly damaging |
Het |
| Nnt |
G |
A |
13: 119,370,094 (GRCm38) |
A453V |
possibly damaging |
Het |
| Opa1 |
A |
G |
16: 29,648,937 (GRCm38) |
K940R |
probably benign |
Het |
| Opn5 |
A |
C |
17: 42,580,619 (GRCm38) |
I309S |
probably null |
Het |
| Or1af1 |
C |
T |
2: 37,219,711 (GRCm38) |
T74I |
probably damaging |
Het |
| Or1r1 |
A |
C |
11: 73,984,431 (GRCm38) |
M59R |
probably damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,741,413 (GRCm38) |
I174F |
probably damaging |
Het |
| P3h3 |
T |
G |
6: 124,855,155 (GRCm38) |
E256A |
possibly damaging |
Het |
| Pald1 |
G |
T |
10: 61,355,814 (GRCm38) |
T65K |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,685,961 (GRCm38) |
Y279C |
probably damaging |
Het |
| Pik3c2b |
G |
A |
1: 133,071,242 (GRCm38) |
S367N |
possibly damaging |
Het |
| Pik3cb |
T |
C |
9: 99,088,613 (GRCm38) |
T342A |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 109,631,358 (GRCm38) |
E837D |
possibly damaging |
Het |
| Ppp2r2b |
T |
A |
18: 42,701,532 (GRCm38) |
Y191F |
probably benign |
Het |
| Ppp4r4 |
G |
A |
12: 103,590,821 (GRCm38) |
E439K |
possibly damaging |
Het |
| Ptprk |
A |
G |
10: 28,568,408 (GRCm38) |
I946V |
possibly damaging |
Het |
| Ror1 |
A |
G |
4: 100,441,098 (GRCm38) |
N556S |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,926,838 (GRCm38) |
A391T |
possibly damaging |
Het |
| Selp |
G |
A |
1: 164,145,015 (GRCm38) |
|
probably null |
Het |
| Setx |
T |
C |
2: 29,157,108 (GRCm38) |
L1866S |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,179,854 (GRCm38) |
V2557E |
possibly damaging |
Het |
| Slc66a3 |
T |
A |
12: 16,997,631 (GRCm38) |
|
probably null |
Het |
| Sorbs3 |
T |
G |
14: 70,203,032 (GRCm38) |
N89T |
possibly damaging |
Het |
| Sorl1 |
C |
A |
9: 42,089,961 (GRCm38) |
V248L |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,182,087 (GRCm38) |
V612E |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 95,976,692 (GRCm38) |
Y583F |
probably damaging |
Het |
| Tada1 |
G |
T |
1: 166,389,873 (GRCm38) |
R193I |
probably damaging |
Het |
| Tnrc6b |
C |
G |
15: 80,880,379 (GRCm38) |
A694G |
possibly damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,399,157 (GRCm38) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,881,081 (GRCm38) |
G8372D |
unknown |
Het |
| Ube2g2 |
A |
G |
10: 77,634,742 (GRCm38) |
T68A |
|
Het |
| Ubl7 |
T |
G |
9: 57,914,635 (GRCm38) |
V89G |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,759,841 (GRCm38) |
I3109N |
probably damaging |
Het |
| Utp20 |
T |
A |
10: 88,762,770 (GRCm38) |
K115* |
probably null |
Het |
| Vmn2r26 |
T |
A |
6: 124,039,799 (GRCm38) |
Y407* |
probably null |
Het |
| Yod1 |
G |
T |
1: 130,719,249 (GRCm38) |
V288F |
probably damaging |
Het |
| Zbed5 |
A |
C |
5: 129,901,957 (GRCm38) |
N249T |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,995,244 (GRCm38) |
T47A |
probably damaging |
Het |
| Zcchc14 |
T |
C |
8: 121,605,245 (GRCm38) |
T460A |
not run |
Het |
| Zfp712 |
A |
C |
13: 67,052,419 (GRCm38) |
|
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,522,328 (GRCm38) |
H358Q |
probably benign |
Het |
|
| Other mutations in Slit2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Slit2
|
APN |
5 |
48,304,032 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL00809:Slit2
|
APN |
5 |
47,989,151 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL00811:Slit2
|
APN |
5 |
47,989,151 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL00813:Slit2
|
APN |
5 |
47,989,151 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL00815:Slit2
|
APN |
5 |
47,989,151 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL00816:Slit2
|
APN |
5 |
47,989,151 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL00817:Slit2
|
APN |
5 |
47,989,151 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL00819:Slit2
|
APN |
5 |
47,989,151 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL00820:Slit2
|
APN |
5 |
47,989,151 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL00822:Slit2
|
APN |
5 |
47,989,151 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01077:Slit2
|
APN |
5 |
48,217,443 (GRCm38) |
splice site |
probably null |
|
|
IGL01375:Slit2
|
APN |
5 |
48,281,714 (GRCm38) |
splice site |
probably benign |
|
|
IGL01481:Slit2
|
APN |
5 |
48,302,931 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL01934:Slit2
|
APN |
5 |
48,238,405 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01992:Slit2
|
APN |
5 |
48,238,417 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02315:Slit2
|
APN |
5 |
47,987,871 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02328:Slit2
|
APN |
5 |
48,230,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02366:Slit2
|
APN |
5 |
48,304,068 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL02526:Slit2
|
APN |
5 |
48,304,223 (GRCm38) |
nonsense |
probably null |
|
|
IGL02852:Slit2
|
APN |
5 |
48,244,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02887:Slit2
|
APN |
5 |
48,217,474 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL03123:Slit2
|
APN |
5 |
48,211,339 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03182:Slit2
|
APN |
5 |
48,220,053 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
P0025:Slit2
|
UTSW |
5 |
48,304,035 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0032:Slit2
|
UTSW |
5 |
48,256,856 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0032:Slit2
|
UTSW |
5 |
48,256,856 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0055:Slit2
|
UTSW |
5 |
48,281,726 (GRCm38) |
nonsense |
probably null |
|
|
R0055:Slit2
|
UTSW |
5 |
48,281,726 (GRCm38) |
nonsense |
probably null |
|
|
R0267:Slit2
|
UTSW |
5 |
48,182,331 (GRCm38) |
splice site |
probably benign |
|
|
R0552:Slit2
|
UTSW |
5 |
48,238,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0610:Slit2
|
UTSW |
5 |
48,275,674 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R0883:Slit2
|
UTSW |
5 |
48,245,573 (GRCm38) |
splice site |
probably benign |
|
|
R1390:Slit2
|
UTSW |
5 |
48,217,490 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1442:Slit2
|
UTSW |
5 |
48,238,383 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1453:Slit2
|
UTSW |
5 |
48,257,051 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1508:Slit2
|
UTSW |
5 |
48,192,249 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1639:Slit2
|
UTSW |
5 |
48,259,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1705:Slit2
|
UTSW |
5 |
48,189,472 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1828:Slit2
|
UTSW |
5 |
48,304,030 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1897:Slit2
|
UTSW |
5 |
48,238,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1908:Slit2
|
UTSW |
5 |
48,281,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1919:Slit2
|
UTSW |
5 |
48,191,016 (GRCm38) |
unclassified |
probably benign |
|
|
R1982:Slit2
|
UTSW |
5 |
48,249,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2013:Slit2
|
UTSW |
5 |
48,302,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2136:Slit2
|
UTSW |
5 |
48,304,225 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2655:Slit2
|
UTSW |
5 |
48,189,575 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3402:Slit2
|
UTSW |
5 |
48,283,421 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3724:Slit2
|
UTSW |
5 |
48,256,883 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4176:Slit2
|
UTSW |
5 |
48,237,244 (GRCm38) |
splice site |
probably null |
|
|
R4306:Slit2
|
UTSW |
5 |
48,302,783 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4397:Slit2
|
UTSW |
5 |
48,220,081 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4525:Slit2
|
UTSW |
5 |
48,249,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4688:Slit2
|
UTSW |
5 |
48,257,003 (GRCm38) |
splice site |
probably null |
|
|
R5026:Slit2
|
UTSW |
5 |
48,256,805 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5138:Slit2
|
UTSW |
5 |
48,281,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5465:Slit2
|
UTSW |
5 |
48,249,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5471:Slit2
|
UTSW |
5 |
48,189,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5699:Slit2
|
UTSW |
5 |
48,220,991 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5735:Slit2
|
UTSW |
5 |
48,259,616 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5834:Slit2
|
UTSW |
5 |
48,259,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5967:Slit2
|
UTSW |
5 |
47,985,164 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6150:Slit2
|
UTSW |
5 |
48,304,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6219:Slit2
|
UTSW |
5 |
48,302,428 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6344:Slit2
|
UTSW |
5 |
48,219,681 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6408:Slit2
|
UTSW |
5 |
47,984,986 (GRCm38) |
unclassified |
probably benign |
|
|
R6479:Slit2
|
UTSW |
5 |
48,231,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6526:Slit2
|
UTSW |
5 |
48,304,167 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6959:Slit2
|
UTSW |
5 |
48,238,385 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7139:Slit2
|
UTSW |
5 |
48,244,683 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7201:Slit2
|
UTSW |
5 |
48,237,285 (GRCm38) |
missense |
probably null |
0.85 |
|
R7472:Slit2
|
UTSW |
5 |
48,256,838 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7491:Slit2
|
UTSW |
5 |
48,219,994 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7566:Slit2
|
UTSW |
5 |
48,249,897 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7622:Slit2
|
UTSW |
5 |
47,985,205 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7870:Slit2
|
UTSW |
5 |
48,302,307 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7899:Slit2
|
UTSW |
5 |
48,247,185 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7969:Slit2
|
UTSW |
5 |
48,304,036 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7984:Slit2
|
UTSW |
5 |
48,176,123 (GRCm38) |
intron |
probably benign |
|
|
R8021:Slit2
|
UTSW |
5 |
48,302,492 (GRCm38) |
nonsense |
probably null |
|
|
R8253:Slit2
|
UTSW |
5 |
48,275,671 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8321:Slit2
|
UTSW |
5 |
48,230,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8426:Slit2
|
UTSW |
5 |
48,224,763 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8513:Slit2
|
UTSW |
5 |
48,224,708 (GRCm38) |
nonsense |
probably null |
|
|
R8756:Slit2
|
UTSW |
5 |
48,302,487 (GRCm38) |
nonsense |
probably null |
|
|
R8796:Slit2
|
UTSW |
5 |
48,302,848 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8799:Slit2
|
UTSW |
5 |
48,304,182 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8947:Slit2
|
UTSW |
5 |
48,249,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9005:Slit2
|
UTSW |
5 |
48,302,518 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9173:Slit2
|
UTSW |
5 |
48,219,943 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9310:Slit2
|
UTSW |
5 |
48,192,226 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R9365:Slit2
|
UTSW |
5 |
48,304,192 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1088:Slit2
|
UTSW |
5 |
48,302,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATCATAAGGCTCCTATAATGTTCC -3'
(R):5'- GTGTGTTTCTTAAGCTACACCTAAC -3'
Sequencing Primer
(F):5'- GTGGTTTGTTCCAAACCC -3'
(R):5'- GCTACACCTAACACTTTGAGTATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation