Incidental Mutation 'R2136:Slit2'
| ID |
235798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slit2
|
| Ensembl Gene |
ENSMUSG00000031558 |
| Gene Name |
slit guidance ligand 2 |
| Synonyms |
E030015M03Rik, Drad-1, b2b1200.1Clo, Slil3, E130320P19Rik |
| MMRRC Submission |
040139-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2136 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
48140480-48465075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 48461567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1521
(A1521V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033967]
[ENSMUST00000170109]
[ENSMUST00000173107]
[ENSMUST00000173686]
[ENSMUST00000174313]
[ENSMUST00000174421]
|
| AlphaFold |
Q9R1B9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033967
|
| SMART Domains |
Protein: ENSMUSP00000033967
Gene: ENSMUSG00000031558
| 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: A1529V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000127615
Gene: ENSMUSG00000031558
AA Change: A1529V
| 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: ENSMUST00000173107
AA Change: A1517V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133840
Gene: ENSMUSG00000031558
AA Change: A1517V
| 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: ENSMUST00000173686
|
| SMART Domains |
Protein: ENSMUSP00000133382
Gene: ENSMUSG00000031558
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
1 |
31 |
2.05e-2 |
SMART |
|
EGF
|
43 |
76 |
1.62e-5 |
SMART |
|
Pfam:Laminin_G_2
|
107 |
149 |
1.4e-6 |
PFAM |
|
Pfam:Laminin_G_1
|
107 |
150 |
5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174313
AA Change: A1521V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133912
Gene: ENSMUSG00000031558
AA Change: A1521V
| 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: A1538V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134263
Gene: ENSMUSG00000031558
AA Change: A1538V
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
G |
16: 19,702,530 (GRCm39) |
|
noncoding transcript |
Het |
| Abca5 |
T |
C |
11: 110,210,658 (GRCm39) |
T174A |
probably benign |
Het |
| Abcg3 |
G |
A |
5: 105,114,680 (GRCm39) |
S279L |
probably benign |
Het |
| Acap3 |
T |
C |
4: 155,981,369 (GRCm39) |
L85P |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,101 (GRCm39) |
K290R |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,780,674 (GRCm39) |
T1909A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 63,982,808 (GRCm39) |
D832G |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,795,552 (GRCm39) |
L702Q |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,990,430 (GRCm39) |
V1774A |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,903,248 (GRCm39) |
E48G |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,805,493 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
C |
CA |
1: 74,956,432 (GRCm39) |
|
probably null |
Het |
| Cln3 |
A |
C |
7: 126,181,971 (GRCm39) |
S30R |
probably benign |
Het |
| Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,265,163 (GRCm39) |
V85E |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,760,265 (GRCm39) |
R789W |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,572,397 (GRCm39) |
I212V |
probably benign |
Het |
| Cyp2t4 |
C |
A |
7: 26,857,585 (GRCm39) |
F391L |
probably benign |
Het |
| Dhx35 |
G |
T |
2: 158,673,781 (GRCm39) |
R404L |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,869,942 (GRCm39) |
L826S |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,648 (GRCm39) |
Y1393N |
unknown |
Het |
| Fap |
C |
T |
2: 62,354,551 (GRCm39) |
G446D |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 16,288,347 (GRCm39) |
I392T |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Glipr1l1 |
T |
C |
10: 111,896,381 (GRCm39) |
V56A |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,820,517 (GRCm39) |
V7A |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,509,410 (GRCm39) |
A3646V |
probably damaging |
Het |
| Ipo9 |
A |
T |
1: 135,322,023 (GRCm39) |
I569N |
probably damaging |
Het |
| Irs1 |
G |
T |
1: 82,267,763 (GRCm39) |
P151Q |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,128,094 (GRCm39) |
D491G |
possibly damaging |
Het |
| Kctd7 |
T |
C |
5: 130,181,207 (GRCm39) |
L210P |
probably damaging |
Het |
| Lifr |
C |
A |
15: 7,211,338 (GRCm39) |
D625E |
possibly damaging |
Het |
| Lrguk |
T |
C |
6: 34,020,454 (GRCm39) |
V201A |
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,651,770 (GRCm39) |
V135A |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,870,722 (GRCm39) |
D70E |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,275,000 (GRCm39) |
Y434H |
probably damaging |
Het |
| Myh10 |
C |
A |
11: 68,695,540 (GRCm39) |
Q1556K |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,382,174 (GRCm39) |
T1400I |
probably null |
Het |
| Or1j11 |
A |
G |
2: 36,311,950 (GRCm39) |
D180G |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
| Or4b13 |
A |
C |
2: 90,082,597 (GRCm39) |
V245G |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,313,961 (GRCm39) |
V62A |
probably damaging |
Het |
| Or4p7 |
T |
A |
2: 88,221,663 (GRCm39) |
I24N |
probably benign |
Het |
| Or5d43 |
T |
C |
2: 88,104,584 (GRCm39) |
K270E |
probably damaging |
Het |
| Or5e1 |
G |
A |
7: 108,354,430 (GRCm39) |
M122I |
possibly damaging |
Het |
| Osmr |
T |
A |
15: 6,881,943 (GRCm39) |
Q67L |
probably damaging |
Het |
| Pan2 |
T |
G |
10: 128,149,506 (GRCm39) |
V522G |
possibly damaging |
Het |
| Pard3 |
T |
G |
8: 128,103,366 (GRCm39) |
|
probably null |
Het |
| Pcdhgc5 |
G |
T |
18: 37,953,166 (GRCm39) |
A147S |
possibly damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,303,967 (GRCm39) |
I506V |
probably benign |
Het |
| Polr3d |
GCCCCC |
GCCCC |
14: 70,680,487 (GRCm39) |
|
probably null |
Het |
| Prdm4 |
G |
A |
10: 85,729,215 (GRCm39) |
R731* |
probably null |
Het |
| Prdx6b |
T |
A |
2: 80,123,507 (GRCm39) |
D105E |
probably damaging |
Het |
| Prss3b |
A |
G |
6: 41,012,396 (GRCm39) |
F6S |
probably benign |
Het |
| Rab42 |
A |
G |
4: 132,029,790 (GRCm39) |
L144P |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 66,171,661 (GRCm39) |
K104M |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,230,320 (GRCm39) |
I1122K |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,881,038 (GRCm39) |
V131A |
probably damaging |
Het |
| Sbno1 |
C |
T |
5: 124,525,597 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
A |
T |
10: 79,898,527 (GRCm39) |
I645N |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,367,028 (GRCm39) |
K624R |
probably benign |
Het |
| Sgk2 |
C |
A |
2: 162,841,099 (GRCm39) |
|
probably null |
Het |
| Sirt4 |
A |
G |
5: 115,617,760 (GRCm39) |
S299P |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,321,473 (GRCm39) |
S1322P |
possibly damaging |
Het |
| Socs7 |
T |
G |
11: 97,263,933 (GRCm39) |
V275G |
possibly damaging |
Het |
| Spink11 |
G |
A |
18: 44,323,554 (GRCm39) |
P102S |
probably benign |
Het |
| Tacc3 |
A |
G |
5: 33,828,748 (GRCm39) |
N534D |
probably damaging |
Het |
| Tas2r115 |
T |
C |
6: 132,714,309 (GRCm39) |
Y214C |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,650,454 (GRCm39) |
M875K |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,479,869 (GRCm39) |
L41Q |
possibly damaging |
Het |
| Vasn |
T |
A |
16: 4,467,659 (GRCm39) |
C535* |
probably null |
Het |
| Vcan |
T |
A |
13: 89,837,856 (GRCm39) |
I2563F |
probably damaging |
Het |
| Vmn2r63 |
T |
G |
7: 42,576,297 (GRCm39) |
Q505H |
probably damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,592,781 (GRCm39) |
Q475H |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,344,532 (GRCm39) |
Y231C |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,266 (GRCm39) |
V931A |
probably benign |
Het |
|
| Other mutations in Slit2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Slit2
|
APN |
5 |
48,461,374 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL00809:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00811:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00813:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00815:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00816:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00817:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00819:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00820:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00822:Slit2
|
APN |
5 |
48,146,493 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01077:Slit2
|
APN |
5 |
48,374,785 (GRCm39) |
splice site |
probably null |
|
|
IGL01375:Slit2
|
APN |
5 |
48,439,056 (GRCm39) |
splice site |
probably benign |
|
|
IGL01481:Slit2
|
APN |
5 |
48,460,273 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01934:Slit2
|
APN |
5 |
48,395,747 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01992:Slit2
|
APN |
5 |
48,395,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02315:Slit2
|
APN |
5 |
48,145,213 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02328:Slit2
|
APN |
5 |
48,387,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02366:Slit2
|
APN |
5 |
48,461,410 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02526:Slit2
|
APN |
5 |
48,461,565 (GRCm39) |
nonsense |
probably null |
|
|
IGL02852:Slit2
|
APN |
5 |
48,402,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Slit2
|
APN |
5 |
48,374,816 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03123:Slit2
|
APN |
5 |
48,368,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Slit2
|
APN |
5 |
48,377,395 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
P0025:Slit2
|
UTSW |
5 |
48,461,377 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0032:Slit2
|
UTSW |
5 |
48,414,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0032:Slit2
|
UTSW |
5 |
48,414,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0055:Slit2
|
UTSW |
5 |
48,439,068 (GRCm39) |
nonsense |
probably null |
|
|
R0055:Slit2
|
UTSW |
5 |
48,439,068 (GRCm39) |
nonsense |
probably null |
|
|
R0267:Slit2
|
UTSW |
5 |
48,339,673 (GRCm39) |
splice site |
probably benign |
|
|
R0552:Slit2
|
UTSW |
5 |
48,395,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Slit2
|
UTSW |
5 |
48,433,016 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0883:Slit2
|
UTSW |
5 |
48,402,915 (GRCm39) |
splice site |
probably benign |
|
|
R1390:Slit2
|
UTSW |
5 |
48,374,832 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1442:Slit2
|
UTSW |
5 |
48,395,725 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1453:Slit2
|
UTSW |
5 |
48,414,393 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1508:Slit2
|
UTSW |
5 |
48,349,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1639:Slit2
|
UTSW |
5 |
48,416,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1705:Slit2
|
UTSW |
5 |
48,346,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1828:Slit2
|
UTSW |
5 |
48,461,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Slit2
|
UTSW |
5 |
48,395,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Slit2
|
UTSW |
5 |
48,439,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Slit2
|
UTSW |
5 |
48,348,358 (GRCm39) |
unclassified |
probably benign |
|
|
R1982:Slit2
|
UTSW |
5 |
48,407,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Slit2
|
UTSW |
5 |
48,459,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Slit2
|
UTSW |
5 |
48,346,917 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3402:Slit2
|
UTSW |
5 |
48,440,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3724:Slit2
|
UTSW |
5 |
48,414,225 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4176:Slit2
|
UTSW |
5 |
48,394,586 (GRCm39) |
splice site |
probably null |
|
|
R4306:Slit2
|
UTSW |
5 |
48,460,125 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4397:Slit2
|
UTSW |
5 |
48,377,423 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4525:Slit2
|
UTSW |
5 |
48,407,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Slit2
|
UTSW |
5 |
48,414,345 (GRCm39) |
splice site |
probably null |
|
|
R5026:Slit2
|
UTSW |
5 |
48,414,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5138:Slit2
|
UTSW |
5 |
48,439,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5465:Slit2
|
UTSW |
5 |
48,407,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Slit2
|
UTSW |
5 |
48,346,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Slit2
|
UTSW |
5 |
48,378,333 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5735:Slit2
|
UTSW |
5 |
48,416,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5834:Slit2
|
UTSW |
5 |
48,416,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5967:Slit2
|
UTSW |
5 |
48,142,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6150:Slit2
|
UTSW |
5 |
48,461,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6219:Slit2
|
UTSW |
5 |
48,459,770 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6344:Slit2
|
UTSW |
5 |
48,377,023 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6408:Slit2
|
UTSW |
5 |
48,142,328 (GRCm39) |
unclassified |
probably benign |
|
|
R6479:Slit2
|
UTSW |
5 |
48,389,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Slit2
|
UTSW |
5 |
48,461,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6959:Slit2
|
UTSW |
5 |
48,395,727 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7139:Slit2
|
UTSW |
5 |
48,402,025 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7201:Slit2
|
UTSW |
5 |
48,394,627 (GRCm39) |
missense |
probably null |
0.85 |
|
R7472:Slit2
|
UTSW |
5 |
48,414,180 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7491:Slit2
|
UTSW |
5 |
48,377,336 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7566:Slit2
|
UTSW |
5 |
48,407,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7622:Slit2
|
UTSW |
5 |
48,142,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7831:Slit2
|
UTSW |
5 |
48,402,025 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7870:Slit2
|
UTSW |
5 |
48,459,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7899:Slit2
|
UTSW |
5 |
48,404,527 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7969:Slit2
|
UTSW |
5 |
48,461,378 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7984:Slit2
|
UTSW |
5 |
48,333,465 (GRCm39) |
intron |
probably benign |
|
|
R8021:Slit2
|
UTSW |
5 |
48,459,834 (GRCm39) |
nonsense |
probably null |
|
|
R8253:Slit2
|
UTSW |
5 |
48,433,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8321:Slit2
|
UTSW |
5 |
48,387,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Slit2
|
UTSW |
5 |
48,382,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8513:Slit2
|
UTSW |
5 |
48,382,050 (GRCm39) |
nonsense |
probably null |
|
|
R8756:Slit2
|
UTSW |
5 |
48,459,829 (GRCm39) |
nonsense |
probably null |
|
|
R8796:Slit2
|
UTSW |
5 |
48,460,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8799:Slit2
|
UTSW |
5 |
48,461,524 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8947:Slit2
|
UTSW |
5 |
48,407,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Slit2
|
UTSW |
5 |
48,459,860 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9173:Slit2
|
UTSW |
5 |
48,377,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9310:Slit2
|
UTSW |
5 |
48,349,568 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9365:Slit2
|
UTSW |
5 |
48,461,534 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1088:Slit2
|
UTSW |
5 |
48,459,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACGCTGCCTGTCAAACAAC -3'
(R):5'- TCACTAATGCCTCCAAGTGTG -3'
Sequencing Primer
(F):5'- CTAAGAAAGTATCTCGCTTGGAATGC -3'
(R):5'- GCTTTAGTACAAGCGTGGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation