Incidental Mutation 'R4704:Arhgef40'
| ID |
356319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef40
|
| Ensembl Gene |
ENSMUSG00000004562 |
| Gene Name |
Rho guanine nucleotide exchange factor (GEF) 40 |
| Synonyms |
E130112L23Rik |
| MMRRC Submission |
041952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R4704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51984719-52006251 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52002310 bp (GRCm38)
|
| 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]
[ENSMUST00000182760]
[ENSMUST00000182905]
[ENSMUST00000182909]
[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 benign
Transcript: ENSMUST00000182667
|
| 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 |
probably benign
Transcript: ENSMUST00000182828
|
| 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 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 |
noncoding transcript
Transcript: ENSMUST00000183022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228580
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000226474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226522
|
| Meta Mutation Damage Score |
0.1200 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
97% (89/92) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 131,357,530 (GRCm38) |
M147K |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,276,990 (GRCm38) |
D582G |
possibly damaging |
Het |
| Abca2 |
T |
C |
2: 25,443,412 (GRCm38) |
L1683P |
probably damaging |
Het |
| Adam39 |
A |
G |
8: 40,825,796 (GRCm38) |
H408R |
probably benign |
Het |
| Adcy4 |
A |
G |
14: 55,775,025 (GRCm38) |
S554P |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 9,013,181 (GRCm38) |
I3943T |
probably damaging |
Het |
| Ahnak |
T |
G |
19: 9,012,258 (GRCm38) |
|
probably benign |
Het |
| Alkal2 |
T |
A |
12: 30,887,196 (GRCm38) |
S109R |
probably damaging |
Het |
| Apobec4 |
A |
G |
1: 152,756,250 (GRCm38) |
T10A |
probably benign |
Het |
| Arpc3 |
A |
G |
5: 122,400,408 (GRCm38) |
M1V |
probably null |
Het |
| Ascc1 |
A |
G |
10: 60,049,802 (GRCm38) |
Y225C |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,659,014 (GRCm38) |
I668V |
probably benign |
Het |
| Bdnf |
T |
A |
2: 109,723,692 (GRCm38) |
M137K |
possibly damaging |
Het |
| Cacna1b |
T |
C |
2: 24,654,463 (GRCm38) |
D1231G |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,300,602 (GRCm38) |
Y239* |
probably null |
Het |
| Cpped1 |
G |
A |
16: 11,885,629 (GRCm38) |
|
probably benign |
Het |
| Ctu2 |
G |
A |
8: 122,479,303 (GRCm38) |
R261Q |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,249,201 (GRCm38) |
V645A |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 32,925,735 (GRCm38) |
C401R |
probably damaging |
Het |
| Dpt |
T |
G |
1: 164,818,949 (GRCm38) |
Y162* |
probably null |
Het |
| Ednra |
A |
G |
8: 77,667,963 (GRCm38) |
|
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,482,826 (GRCm38) |
T129A |
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,877,170 (GRCm38) |
T134A |
probably benign |
Het |
| Eloa |
A |
G |
4: 136,011,214 (GRCm38) |
V145A |
probably benign |
Het |
| Enam |
T |
A |
5: 88,503,791 (GRCm38) |
L1053* |
probably null |
Het |
| Eng |
T |
C |
2: 32,678,912 (GRCm38) |
S484P |
probably benign |
Het |
| Eogt |
A |
T |
6: 97,113,852 (GRCm38) |
V442E |
probably damaging |
Het |
| Fam185a |
C |
T |
5: 21,480,473 (GRCm38) |
|
probably benign |
Het |
| Gm4922 |
C |
T |
10: 18,784,819 (GRCm38) |
V52I |
probably benign |
Het |
| Gnao1 |
A |
G |
8: 93,811,376 (GRCm38) |
E14G |
probably benign |
Het |
| Gpr75 |
C |
A |
11: 30,891,110 (GRCm38) |
A5D |
probably benign |
Het |
| Hbq1b |
T |
A |
11: 32,287,448 (GRCm38) |
|
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,796,216 (GRCm38) |
T724M |
probably damaging |
Het |
| Ifi204 |
C |
A |
1: 173,760,361 (GRCm38) |
|
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,480,850 (GRCm38) |
|
probably benign |
Het |
| Irak4 |
A |
G |
15: 94,566,900 (GRCm38) |
|
probably null |
Het |
| Kalrn |
T |
C |
16: 34,203,957 (GRCm38) |
D610G |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,662,977 (GRCm38) |
|
probably null |
Het |
| Kmt2c |
G |
A |
5: 25,314,027 (GRCm38) |
Q2362* |
probably null |
Het |
| Kntc1 |
G |
A |
5: 123,811,433 (GRCm38) |
E1956K |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,553,223 (GRCm38) |
V2781A |
probably benign |
Het |
| Lipt2 |
A |
G |
7: 100,160,327 (GRCm38) |
E207G |
probably damaging |
Het |
| Mag |
A |
T |
7: 30,909,173 (GRCm38) |
L172Q |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,430,475 (GRCm38) |
C1913S |
unknown |
Het |
| Mical3 |
A |
G |
6: 120,958,688 (GRCm38) |
S1626P |
probably benign |
Het |
| Mslnl |
G |
T |
17: 25,738,978 (GRCm38) |
W65L |
possibly damaging |
Het |
| Muc20 |
G |
T |
16: 32,779,074 (GRCm38) |
A3332S |
possibly damaging |
Het |
| Nadk |
C |
A |
4: 155,585,227 (GRCm38) |
P157T |
probably benign |
Het |
| Nkx2-3 |
G |
A |
19: 43,612,684 (GRCm38) |
E62K |
probably damaging |
Het |
| Or6c2 |
T |
C |
10: 129,526,302 (GRCm38) |
L25P |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,676,480 (GRCm38) |
|
probably benign |
Het |
| Pcna-ps2 |
T |
A |
19: 9,283,422 (GRCm38) |
V15E |
possibly damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,578,238 (GRCm38) |
G1285W |
probably damaging |
Het |
| Pramel29 |
A |
T |
4: 144,208,592 (GRCm38) |
I193N |
probably damaging |
Het |
| Procr |
A |
G |
2: 155,754,338 (GRCm38) |
S142G |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,270,119 (GRCm38) |
N14K |
possibly damaging |
Het |
| Rin1 |
C |
A |
19: 5,054,990 (GRCm38) |
L693I |
probably damaging |
Het |
| Ripk4 |
C |
A |
16: 97,746,004 (GRCm38) |
E290* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,440,349 (GRCm38) |
Y2128C |
probably damaging |
Het |
| Saal1 |
T |
C |
7: 46,699,740 (GRCm38) |
|
probably benign |
Het |
| Selplg |
T |
C |
5: 113,819,033 (GRCm38) |
D404G |
probably benign |
Het |
| Serpinf1 |
C |
A |
11: 75,411,041 (GRCm38) |
A263S |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 63,927,790 (GRCm38) |
D669E |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,342,273 (GRCm38) |
|
probably benign |
Het |
| Sri |
A |
T |
5: 8,062,430 (GRCm38) |
|
probably null |
Het |
| Sspo |
G |
A |
6: 48,498,704 (GRCm38) |
C4918Y |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,393,829 (GRCm38) |
Y361H |
probably damaging |
Het |
| Tbc1d12 |
T |
A |
19: 38,901,337 (GRCm38) |
W404R |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,851,727 (GRCm38) |
E1841G |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 50,837,073 (GRCm38) |
T1832A |
probably benign |
Het |
| Tmem132e |
G |
A |
11: 82,443,531 (GRCm38) |
A623T |
probably damaging |
Het |
| Tmem201 |
A |
T |
4: 149,727,317 (GRCm38) |
F357Y |
possibly damaging |
Het |
| Trappc13 |
T |
G |
13: 104,166,821 (GRCm38) |
|
probably benign |
Het |
| Trav6-5 |
C |
T |
14: 53,491,426 (GRCm38) |
Q47* |
probably null |
Het |
| Ubxn1 |
T |
A |
19: 8,872,035 (GRCm38) |
D47E |
probably benign |
Het |
| Vmn2r45 |
G |
T |
7: 8,483,536 (GRCm38) |
S251* |
probably null |
Het |
| Wnk1 |
A |
G |
6: 119,965,744 (GRCm38) |
L774S |
possibly damaging |
Het |
| Zfp189 |
T |
C |
4: 49,530,081 (GRCm38) |
S395P |
probably damaging |
Het |
|
| Other mutations in Arhgef40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Arhgef40
|
APN |
14 |
51,988,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00848:Arhgef40
|
APN |
14 |
51,987,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00966:Arhgef40
|
APN |
14 |
51,991,698 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01123:Arhgef40
|
APN |
14 |
51,994,346 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02110:Arhgef40
|
APN |
14 |
51,989,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02490:Arhgef40
|
APN |
14 |
51,989,195 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02505:Arhgef40
|
APN |
14 |
52,000,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02636:Arhgef40
|
APN |
14 |
51,997,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0200:Arhgef40
|
UTSW |
14 |
51,996,974 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0496:Arhgef40
|
UTSW |
14 |
52,004,907 (GRCm38) |
unclassified |
probably benign |
|
|
R0608:Arhgef40
|
UTSW |
14 |
51,996,974 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0826:Arhgef40
|
UTSW |
14 |
52,000,993 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1126:Arhgef40
|
UTSW |
14 |
51,997,126 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1330:Arhgef40
|
UTSW |
14 |
51,990,156 (GRCm38) |
missense |
probably benign |
0.42 |
|
R1612:Arhgef40
|
UTSW |
14 |
52,004,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1794:Arhgef40
|
UTSW |
14 |
51,989,930 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1844:Arhgef40
|
UTSW |
14 |
51,997,623 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2018:Arhgef40
|
UTSW |
14 |
52,003,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2064:Arhgef40
|
UTSW |
14 |
51,996,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2321:Arhgef40
|
UTSW |
14 |
51,994,276 (GRCm38) |
splice site |
probably benign |
|
|
R3877:Arhgef40
|
UTSW |
14 |
52,002,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4233:Arhgef40
|
UTSW |
14 |
51,990,171 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R4596:Arhgef40
|
UTSW |
14 |
51,987,224 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4676:Arhgef40
|
UTSW |
14 |
51,990,959 (GRCm38) |
nonsense |
probably null |
|
|
R4703:Arhgef40
|
UTSW |
14 |
52,002,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4719:Arhgef40
|
UTSW |
14 |
52,004,938 (GRCm38) |
unclassified |
probably benign |
|
|
R4915:Arhgef40
|
UTSW |
14 |
51,990,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4917:Arhgef40
|
UTSW |
14 |
51,990,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4918:Arhgef40
|
UTSW |
14 |
51,990,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5097:Arhgef40
|
UTSW |
14 |
51,989,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5183:Arhgef40
|
UTSW |
14 |
52,004,099 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5195:Arhgef40
|
UTSW |
14 |
51,989,812 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5367:Arhgef40
|
UTSW |
14 |
51,989,699 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5381:Arhgef40
|
UTSW |
14 |
51,991,849 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5594:Arhgef40
|
UTSW |
14 |
51,996,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5632:Arhgef40
|
UTSW |
14 |
51,994,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5665:Arhgef40
|
UTSW |
14 |
52,000,900 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5798:Arhgef40
|
UTSW |
14 |
51,997,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5820:Arhgef40
|
UTSW |
14 |
51,987,496 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6229:Arhgef40
|
UTSW |
14 |
51,990,090 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6451:Arhgef40
|
UTSW |
14 |
52,000,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6633:Arhgef40
|
UTSW |
14 |
51,997,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6642:Arhgef40
|
UTSW |
14 |
51,990,962 (GRCm38) |
unclassified |
probably benign |
|
|
R6675:Arhgef40
|
UTSW |
14 |
51,991,641 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6781:Arhgef40
|
UTSW |
14 |
51,997,897 (GRCm38) |
intron |
probably benign |
|
|
R6901:Arhgef40
|
UTSW |
14 |
51,997,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7852:Arhgef40
|
UTSW |
14 |
51,991,797 (GRCm38) |
missense |
unknown |
|
|
R7857:Arhgef40
|
UTSW |
14 |
51,988,755 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7914:Arhgef40
|
UTSW |
14 |
51,987,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8060:Arhgef40
|
UTSW |
14 |
51,984,995 (GRCm38) |
splice site |
probably benign |
|
|
R8144:Arhgef40
|
UTSW |
14 |
51,998,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8195:Arhgef40
|
UTSW |
14 |
51,988,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8432:Arhgef40
|
UTSW |
14 |
51,989,400 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8738:Arhgef40
|
UTSW |
14 |
52,000,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8830:Arhgef40
|
UTSW |
14 |
52,003,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9038:Arhgef40
|
UTSW |
14 |
51,997,615 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9712:Arhgef40
|
UTSW |
14 |
51,988,958 (GRCm38) |
missense |
probably damaging |
0.99 |
|
U24488:Arhgef40
|
UTSW |
14 |
51,998,216 (GRCm38) |
missense |
probably benign |
0.07 |
|
X0023:Arhgef40
|
UTSW |
14 |
52,003,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCTCTGAGTGAGCCTTAC -3'
(R):5'- CCAAGCAGAACATCCCTGTG -3'
Sequencing Primer
(F):5'- TTACGCCTGCTAAGCAATGTAGC -3'
(R):5'- AGAACATCCCTGTGGCCTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation