Incidental Mutation 'R4703:Arhgef40'
| ID |
356242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef40
|
| Ensembl Gene |
ENSMUSG00000004562 |
| Gene Name |
Rho guanine nucleotide exchange factor 40 |
| Synonyms |
E130112L23Rik |
| MMRRC Submission |
041951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R4703 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52222176-52243708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52239767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1327
(N1327S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067549]
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000166169]
[ENSMUST00000182061]
[ENSMUST00000182909]
[ENSMUST00000182760]
[ENSMUST00000182905]
[ENSMUST00000228580]
[ENSMUST00000183208]
[ENSMUST00000226522]
|
| AlphaFold |
Q3UPH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067549
|
| SMART Domains |
Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
61 |
83 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
89 |
111 |
4.17e-3 |
SMART |
|
low complexity region
|
113 |
146 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
167 |
190 |
3.07e-1 |
SMART |
|
ZnF_C2H2
|
193 |
216 |
1.51e0 |
SMART |
|
low complexity region
|
229 |
276 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
277 |
299 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
1.38e-3 |
SMART |
|
low complexity region
|
331 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
441 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
501 |
523 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
1.58e-3 |
SMART |
|
low complexity region
|
560 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
637 |
648 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
650 |
672 |
2.82e0 |
SMART |
|
low complexity region
|
675 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093813
AA Change: N1327S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: N1327S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
|
Pfam:RhoGEF
|
1087 |
1246 |
6.1e-9 |
PFAM |
|
PH
|
1264 |
1372 |
3.97e-8 |
SMART |
|
low complexity region
|
1403 |
1424 |
N/A |
INTRINSIC |
|
low complexity region
|
1478 |
1491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100639
AA Change: N1327S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: N1327S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
|
Pfam:RhoGEF
|
1087 |
1246 |
5.9e-9 |
PFAM |
|
PH
|
1264 |
1372 |
3.97e-8 |
SMART |
|
low complexity region
|
1430 |
1443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166169
|
| SMART Domains |
Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
61 |
83 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
89 |
111 |
4.17e-3 |
SMART |
|
low complexity region
|
113 |
146 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
167 |
190 |
3.07e-1 |
SMART |
|
ZnF_C2H2
|
193 |
216 |
1.51e0 |
SMART |
|
low complexity region
|
229 |
276 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
277 |
299 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
1.38e-3 |
SMART |
|
low complexity region
|
331 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
441 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
501 |
523 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
1.58e-3 |
SMART |
|
low complexity region
|
560 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
637 |
648 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
650 |
672 |
2.82e0 |
SMART |
|
low complexity region
|
675 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182061
AA Change: N1327S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: N1327S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
|
Pfam:RhoGEF
|
1087 |
1247 |
3.7e-9 |
PFAM |
|
PH
|
1264 |
1372 |
3.97e-8 |
SMART |
|
low complexity region
|
1430 |
1443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182644
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182909
AA Change: N1327S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: N1327S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
|
Pfam:RhoGEF
|
1087 |
1247 |
3.9e-9 |
PFAM |
|
PH
|
1264 |
1372 |
3.97e-8 |
SMART |
|
low complexity region
|
1403 |
1424 |
N/A |
INTRINSIC |
|
low complexity region
|
1478 |
1491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182760
AA Change: N1336S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: N1336S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
923 |
N/A |
INTRINSIC |
|
low complexity region
|
967 |
1005 |
N/A |
INTRINSIC |
|
Pfam:RhoGEF
|
1096 |
1256 |
5.9e-9 |
PFAM |
|
PH
|
1273 |
1381 |
3.97e-8 |
SMART |
|
low complexity region
|
1412 |
1433 |
N/A |
INTRINSIC |
|
low complexity region
|
1487 |
1500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182905
|
| SMART Domains |
Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
|
SCOP:d1kz7a1
|
1073 |
1162 |
4e-7 |
SMART |
|
Blast:RhoGEF
|
1087 |
1157 |
1e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228580
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182667
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183208
|
| SMART Domains |
Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226522
|
| Meta Mutation Damage Score |
0.1200 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
97% (98/101) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
T |
A |
13: 59,837,342 (GRCm39) |
T248S |
possibly damaging |
Het |
| AA986860 |
T |
C |
1: 130,671,092 (GRCm39) |
V438A |
probably benign |
Het |
| Adam25 |
G |
T |
8: 41,207,163 (GRCm39) |
C143F |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,398,116 (GRCm39) |
F1286I |
possibly damaging |
Het |
| Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
| Arhgap5 |
C |
T |
12: 52,564,366 (GRCm39) |
P446S |
probably damaging |
Het |
| Armc12 |
A |
G |
17: 28,751,336 (GRCm39) |
D110G |
probably benign |
Het |
| Ascc1 |
A |
G |
10: 59,885,624 (GRCm39) |
Y225C |
probably damaging |
Het |
| Aspscr1 |
A |
T |
11: 120,579,771 (GRCm39) |
K39N |
possibly damaging |
Het |
| B4galnt1 |
G |
T |
10: 127,003,394 (GRCm39) |
V172F |
possibly damaging |
Het |
| B4galt1 |
A |
G |
4: 40,823,569 (GRCm39) |
V174A |
probably benign |
Het |
| Bcl11a |
C |
A |
11: 24,113,725 (GRCm39) |
A356E |
possibly damaging |
Het |
| Bri3bp |
C |
T |
5: 125,528,830 (GRCm39) |
L110F |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,544,475 (GRCm39) |
D1231G |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 57,940,953 (GRCm39) |
I430F |
possibly damaging |
Het |
| Cgn |
A |
G |
3: 94,683,405 (GRCm39) |
|
probably benign |
Het |
| Crbn |
T |
A |
6: 106,759,883 (GRCm39) |
I317F |
possibly damaging |
Het |
| Cyp2d22 |
A |
C |
15: 82,260,118 (GRCm39) |
L22R |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,486,476 (GRCm39) |
|
probably null |
Het |
| Dnajc12 |
A |
G |
10: 63,222,429 (GRCm39) |
|
probably null |
Het |
| Dntt |
T |
A |
19: 41,028,242 (GRCm39) |
D179E |
probably benign |
Het |
| Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
| Epn1 |
T |
A |
7: 5,098,147 (GRCm39) |
D319E |
probably damaging |
Het |
| Evpl |
C |
G |
11: 116,113,331 (GRCm39) |
R1453P |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,260,558 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
T |
6: 15,411,247 (GRCm39) |
M542L |
probably benign |
Het |
| Gak |
T |
A |
5: 108,717,743 (GRCm39) |
Q1299L |
probably damaging |
Het |
| Galnt5 |
G |
T |
2: 57,888,919 (GRCm39) |
R173I |
possibly damaging |
Het |
| Gli1 |
G |
T |
10: 127,166,724 (GRCm39) |
P843Q |
possibly damaging |
Het |
| Gm5422 |
G |
T |
10: 31,125,608 (GRCm39) |
|
noncoding transcript |
Het |
| Gna14 |
T |
G |
19: 16,576,344 (GRCm39) |
V117G |
possibly damaging |
Het |
| Gpr6 |
T |
C |
10: 40,947,037 (GRCm39) |
T182A |
probably damaging |
Het |
| Ifi204 |
C |
A |
1: 173,587,927 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
A |
T |
2: 62,429,220 (GRCm39) |
L906H |
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,718,307 (GRCm39) |
|
probably benign |
Het |
| Ighd |
A |
G |
12: 113,379,661 (GRCm39) |
|
probably benign |
Het |
| Ighv11-1 |
A |
C |
12: 113,945,622 (GRCm39) |
I77R |
possibly damaging |
Het |
| Il22 |
A |
T |
10: 118,041,511 (GRCm39) |
I75F |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,467,686 (GRCm39) |
I27K |
probably damaging |
Het |
| Inpp5a |
A |
C |
7: 139,138,839 (GRCm39) |
N261T |
probably damaging |
Het |
| Ints8 |
T |
G |
4: 11,223,785 (GRCm39) |
Q686P |
possibly damaging |
Het |
| Iqcf4 |
T |
C |
9: 106,445,519 (GRCm39) |
|
probably null |
Het |
| Irf2bp1 |
C |
T |
7: 18,739,496 (GRCm39) |
R379C |
possibly damaging |
Het |
| Iws1 |
C |
T |
18: 32,213,066 (GRCm39) |
P165S |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,024,327 (GRCm39) |
D610G |
probably damaging |
Het |
| Kcna10 |
A |
T |
3: 107,101,926 (GRCm39) |
I186F |
probably benign |
Het |
| Limk2 |
C |
A |
11: 3,297,586 (GRCm39) |
E329* |
probably null |
Het |
| Nadk |
C |
A |
4: 155,669,684 (GRCm39) |
P157T |
probably benign |
Het |
| Notch1 |
T |
G |
2: 26,361,170 (GRCm39) |
K1107Q |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,361,876 (GRCm39) |
D281E |
probably damaging |
Het |
| Obi1 |
A |
G |
14: 104,743,644 (GRCm39) |
L145P |
probably benign |
Het |
| Olfml2a |
T |
A |
2: 38,841,250 (GRCm39) |
L262Q |
probably damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,044 (GRCm39) |
F211L |
probably damaging |
Het |
| Or4k44 |
T |
A |
2: 111,368,113 (GRCm39) |
I174L |
probably benign |
Het |
| Or51d1 |
A |
T |
7: 102,347,477 (GRCm39) |
T11S |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,944,964 (GRCm39) |
I206T |
possibly damaging |
Het |
| Or7c19 |
A |
G |
8: 85,957,237 (GRCm39) |
T38A |
possibly damaging |
Het |
| Otogl |
A |
C |
10: 107,657,785 (GRCm39) |
D1048E |
probably damaging |
Het |
| Oxnad1 |
T |
C |
14: 31,817,427 (GRCm39) |
W96R |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,285,995 (GRCm39) |
D743V |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,726,494 (GRCm39) |
|
probably benign |
Het |
| Pcnx1 |
C |
T |
12: 81,941,938 (GRCm39) |
T112I |
probably benign |
Het |
| Pctp |
T |
C |
11: 89,878,099 (GRCm39) |
E145G |
possibly damaging |
Het |
| Pip5k1b |
T |
C |
19: 24,332,517 (GRCm39) |
K389R |
probably damaging |
Het |
| Pla2g15 |
T |
A |
8: 106,889,691 (GRCm39) |
M321K |
probably benign |
Het |
| Pnlip |
T |
A |
19: 58,664,899 (GRCm39) |
D242E |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,645,651 (GRCm39) |
T1096A |
probably benign |
Het |
| Rims3 |
A |
T |
4: 120,740,494 (GRCm39) |
|
probably benign |
Het |
| Scfd2 |
T |
A |
5: 74,680,256 (GRCm39) |
Q299L |
probably benign |
Het |
| Selplg |
T |
C |
5: 113,957,094 (GRCm39) |
D404G |
probably benign |
Het |
| Slc15a5 |
T |
C |
6: 138,032,643 (GRCm39) |
D237G |
probably benign |
Het |
| Slc16a12 |
T |
A |
19: 34,652,291 (GRCm39) |
H285L |
possibly damaging |
Het |
| Sox2 |
C |
A |
3: 34,704,862 (GRCm39) |
R100S |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,477,387 (GRCm39) |
C4969Y |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,682,521 (GRCm39) |
S37G |
probably damaging |
Het |
| Tbxas1 |
T |
C |
6: 39,060,791 (GRCm39) |
|
probably null |
Het |
| Tcf4 |
A |
G |
18: 69,790,981 (GRCm39) |
Y307C |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,977,646 (GRCm39) |
|
probably benign |
Het |
| Tnn |
G |
T |
1: 159,943,815 (GRCm39) |
D999E |
possibly damaging |
Het |
| Trmt13 |
C |
A |
3: 116,388,247 (GRCm39) |
W63L |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,823,883 (GRCm39) |
N915S |
probably benign |
Het |
| Tyrp1 |
T |
A |
4: 80,759,043 (GRCm39) |
|
probably null |
Het |
| Uvrag |
A |
T |
7: 98,638,794 (GRCm39) |
I315N |
probably damaging |
Het |
| Vmn1r31 |
C |
A |
6: 58,448,953 (GRCm39) |
*304L |
probably null |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,686 (GRCm39) |
I710L |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,641 (GRCm39) |
H208L |
probably damaging |
Het |
| Wtap |
T |
C |
17: 13,199,711 (GRCm39) |
T91A |
probably benign |
Het |
| Xirp1 |
A |
T |
9: 119,846,093 (GRCm39) |
V930E |
probably damaging |
Het |
| Xpo4 |
T |
G |
14: 57,827,565 (GRCm39) |
H877P |
probably benign |
Het |
|
| Other mutations in Arhgef40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Arhgef40
|
APN |
14 |
52,226,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00848:Arhgef40
|
APN |
14 |
52,224,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00966:Arhgef40
|
APN |
14 |
52,229,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01123:Arhgef40
|
APN |
14 |
52,231,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02110:Arhgef40
|
APN |
14 |
52,226,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Arhgef40
|
APN |
14 |
52,226,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02505:Arhgef40
|
APN |
14 |
52,238,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02636:Arhgef40
|
APN |
14 |
52,234,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Arhgef40
|
UTSW |
14 |
52,234,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0496:Arhgef40
|
UTSW |
14 |
52,242,364 (GRCm39) |
unclassified |
probably benign |
|
|
R0608:Arhgef40
|
UTSW |
14 |
52,234,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0826:Arhgef40
|
UTSW |
14 |
52,238,450 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1126:Arhgef40
|
UTSW |
14 |
52,234,583 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1330:Arhgef40
|
UTSW |
14 |
52,227,613 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1612:Arhgef40
|
UTSW |
14 |
52,241,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Arhgef40
|
UTSW |
14 |
52,227,387 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1844:Arhgef40
|
UTSW |
14 |
52,235,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2018:Arhgef40
|
UTSW |
14 |
52,241,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Arhgef40
|
UTSW |
14 |
52,233,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2321:Arhgef40
|
UTSW |
14 |
52,231,733 (GRCm39) |
splice site |
probably benign |
|
|
R3877:Arhgef40
|
UTSW |
14 |
52,239,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Arhgef40
|
UTSW |
14 |
52,227,628 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4596:Arhgef40
|
UTSW |
14 |
52,224,681 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4676:Arhgef40
|
UTSW |
14 |
52,228,416 (GRCm39) |
nonsense |
probably null |
|
|
R4704:Arhgef40
|
UTSW |
14 |
52,239,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Arhgef40
|
UTSW |
14 |
52,242,395 (GRCm39) |
unclassified |
probably benign |
|
|
R4915:Arhgef40
|
UTSW |
14 |
52,227,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Arhgef40
|
UTSW |
14 |
52,227,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Arhgef40
|
UTSW |
14 |
52,227,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5097:Arhgef40
|
UTSW |
14 |
52,227,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Arhgef40
|
UTSW |
14 |
52,241,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5195:Arhgef40
|
UTSW |
14 |
52,227,269 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5367:Arhgef40
|
UTSW |
14 |
52,227,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5381:Arhgef40
|
UTSW |
14 |
52,229,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5594:Arhgef40
|
UTSW |
14 |
52,233,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5632:Arhgef40
|
UTSW |
14 |
52,231,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Arhgef40
|
UTSW |
14 |
52,238,357 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5798:Arhgef40
|
UTSW |
14 |
52,234,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Arhgef40
|
UTSW |
14 |
52,224,953 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6229:Arhgef40
|
UTSW |
14 |
52,227,547 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6451:Arhgef40
|
UTSW |
14 |
52,238,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6633:Arhgef40
|
UTSW |
14 |
52,234,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6642:Arhgef40
|
UTSW |
14 |
52,228,419 (GRCm39) |
unclassified |
probably benign |
|
|
R6675:Arhgef40
|
UTSW |
14 |
52,229,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6781:Arhgef40
|
UTSW |
14 |
52,235,354 (GRCm39) |
intron |
probably benign |
|
|
R6901:Arhgef40
|
UTSW |
14 |
52,234,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Arhgef40
|
UTSW |
14 |
52,229,254 (GRCm39) |
missense |
unknown |
|
|
R7857:Arhgef40
|
UTSW |
14 |
52,226,212 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7914:Arhgef40
|
UTSW |
14 |
52,225,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8060:Arhgef40
|
UTSW |
14 |
52,222,452 (GRCm39) |
splice site |
probably benign |
|
|
R8144:Arhgef40
|
UTSW |
14 |
52,235,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Arhgef40
|
UTSW |
14 |
52,226,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:Arhgef40
|
UTSW |
14 |
52,226,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8738:Arhgef40
|
UTSW |
14 |
52,238,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8830:Arhgef40
|
UTSW |
14 |
52,241,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Arhgef40
|
UTSW |
14 |
52,235,072 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9712:Arhgef40
|
UTSW |
14 |
52,226,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
U24488:Arhgef40
|
UTSW |
14 |
52,235,673 (GRCm39) |
missense |
probably benign |
0.07 |
|
X0023:Arhgef40
|
UTSW |
14 |
52,241,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCTCTGAGTGAGCCTTAC -3'
(R):5'- AAGCAGAACATCCCTGTGGC -3'
Sequencing Primer
(F):5'- TTACGCCTGCTAAGCAATGTAGC -3'
(R):5'- AACATCCCTGTGGCCTGCC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation