Incidental Mutation 'IGL03031:Arhgef38'
ID |
408426 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgef38
|
Ensembl Gene |
ENSMUSG00000040969 |
Gene Name |
Rho guanine nucleotide exchange factor 38 |
Synonyms |
D630013G24Rik, 9130221D24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03031
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
132818039-132940710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 132837828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 118
(D118N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054105]
[ENSMUST00000147041]
|
AlphaFold |
Q80VK6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054105
AA Change: D118N
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000054558 Gene: ENSMUSG00000040969 AA Change: D118N
Domain | Start | End | E-Value | Type |
SH3
|
1 |
60 |
5.56e-1 |
SMART |
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
SH3
|
126 |
189 |
8.2e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147041
AA Change: D701N
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114238 Gene: ENSMUSG00000040969 AA Change: D701N
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
RhoGEF
|
98 |
284 |
2.72e-33 |
SMART |
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
BAR
|
315 |
514 |
4.8e-29 |
SMART |
SH3
|
584 |
643 |
5.56e-1 |
SMART |
low complexity region
|
678 |
689 |
N/A |
INTRINSIC |
SH3
|
709 |
768 |
1.95e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,353,183 (GRCm39) |
D753G |
probably benign |
Het |
Adat2 |
T |
C |
10: 13,432,590 (GRCm39) |
|
probably benign |
Het |
Ahsa2 |
A |
G |
11: 23,440,426 (GRCm39) |
L275S |
probably benign |
Het |
Bicra |
A |
T |
7: 15,709,726 (GRCm39) |
H1097Q |
probably benign |
Het |
C4b |
T |
C |
17: 34,950,104 (GRCm39) |
T1389A |
possibly damaging |
Het |
Cd180 |
A |
G |
13: 102,841,535 (GRCm39) |
S194G |
probably benign |
Het |
Chgb |
C |
A |
2: 132,635,434 (GRCm39) |
Q459K |
probably benign |
Het |
Clvs1 |
G |
T |
4: 9,449,385 (GRCm39) |
|
probably benign |
Het |
Cpox |
G |
A |
16: 58,492,923 (GRCm39) |
G186R |
probably damaging |
Het |
Cul5 |
A |
G |
9: 53,553,975 (GRCm39) |
|
probably benign |
Het |
Epsti1 |
G |
A |
14: 78,212,021 (GRCm39) |
R249K |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,952,025 (GRCm39) |
Y90* |
probably null |
Het |
Gabrp |
T |
C |
11: 33,504,980 (GRCm39) |
R274G |
probably damaging |
Het |
Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
Hectd4 |
C |
T |
5: 121,486,857 (GRCm39) |
T3284M |
possibly damaging |
Het |
Hoxc9 |
T |
C |
15: 102,892,522 (GRCm39) |
M245T |
probably damaging |
Het |
Lpar6 |
T |
C |
14: 73,476,882 (GRCm39) |
V281A |
possibly damaging |
Het |
Med18 |
G |
T |
4: 132,186,924 (GRCm39) |
Q192K |
possibly damaging |
Het |
Mis18bp1 |
A |
G |
12: 65,208,704 (GRCm39) |
V3A |
probably benign |
Het |
Mpped2 |
G |
T |
2: 106,613,968 (GRCm39) |
|
probably benign |
Het |
Ms4a10 |
A |
G |
19: 10,946,035 (GRCm39) |
V32A |
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,968,601 (GRCm39) |
|
probably null |
Het |
Myh1 |
A |
T |
11: 67,097,213 (GRCm39) |
Q422L |
possibly damaging |
Het |
Myo3b |
A |
T |
2: 70,085,721 (GRCm39) |
Q819L |
possibly damaging |
Het |
Ncoa1 |
G |
A |
12: 4,324,818 (GRCm39) |
T921I |
possibly damaging |
Het |
Or10d4b |
A |
G |
9: 39,534,694 (GRCm39) |
I92V |
probably damaging |
Het |
Or6c214 |
A |
G |
10: 129,591,238 (GRCm39) |
L27P |
possibly damaging |
Het |
Or8c16 |
A |
C |
9: 38,130,361 (GRCm39) |
T81P |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,843,734 (GRCm39) |
S1742P |
probably benign |
Het |
Plxdc2 |
G |
A |
2: 16,655,043 (GRCm39) |
|
probably null |
Het |
Poc5 |
A |
G |
13: 96,538,123 (GRCm39) |
T263A |
probably benign |
Het |
Prss41 |
T |
A |
17: 24,061,396 (GRCm39) |
I132F |
probably damaging |
Het |
Pxylp1 |
A |
G |
9: 96,707,195 (GRCm39) |
I329T |
probably benign |
Het |
Rbm27 |
T |
C |
18: 42,466,464 (GRCm39) |
|
probably null |
Het |
Rnps1-ps |
T |
C |
6: 7,982,857 (GRCm39) |
|
noncoding transcript |
Het |
Rpgrip1l |
A |
T |
8: 91,987,411 (GRCm39) |
V882E |
probably damaging |
Het |
Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
Senp7 |
A |
G |
16: 55,996,249 (GRCm39) |
E776G |
probably damaging |
Het |
Smc2 |
A |
G |
4: 52,449,638 (GRCm39) |
I207V |
probably benign |
Het |
Spata31e5 |
A |
G |
1: 28,817,664 (GRCm39) |
F123L |
probably benign |
Het |
Spats2 |
A |
G |
15: 99,078,569 (GRCm39) |
T211A |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
Syt11 |
A |
T |
3: 88,656,148 (GRCm39) |
M1K |
probably null |
Het |
Tacc2 |
A |
G |
7: 130,225,585 (GRCm39) |
T757A |
possibly damaging |
Het |
Tecta |
A |
C |
9: 42,256,789 (GRCm39) |
M1629R |
probably benign |
Het |
Ufsp2 |
T |
A |
8: 46,437,137 (GRCm39) |
I101N |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,235,368 (GRCm39) |
C892S |
probably damaging |
Het |
Ush1c |
A |
G |
7: 45,874,361 (GRCm39) |
|
probably benign |
Het |
Vwde |
A |
T |
6: 13,208,381 (GRCm39) |
V167E |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,862,608 (GRCm39) |
L588P |
probably damaging |
Het |
Zfyve1 |
T |
C |
12: 83,621,595 (GRCm39) |
T267A |
probably damaging |
Het |
|
Other mutations in Arhgef38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Arhgef38
|
APN |
3 |
132,837,812 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00533:Arhgef38
|
APN |
3 |
132,822,220 (GRCm39) |
nonsense |
probably null |
|
F5770:Arhgef38
|
UTSW |
3 |
132,855,301 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4362001:Arhgef38
|
UTSW |
3 |
132,866,591 (GRCm39) |
missense |
|
|
R0050:Arhgef38
|
UTSW |
3 |
132,837,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R0050:Arhgef38
|
UTSW |
3 |
132,837,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R0076:Arhgef38
|
UTSW |
3 |
132,866,507 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0515:Arhgef38
|
UTSW |
3 |
132,855,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0730:Arhgef38
|
UTSW |
3 |
132,843,232 (GRCm39) |
missense |
probably benign |
0.25 |
R0765:Arhgef38
|
UTSW |
3 |
132,822,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R1054:Arhgef38
|
UTSW |
3 |
132,822,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R1261:Arhgef38
|
UTSW |
3 |
132,866,624 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1568:Arhgef38
|
UTSW |
3 |
132,838,225 (GRCm39) |
missense |
probably damaging |
0.98 |
R1580:Arhgef38
|
UTSW |
3 |
132,839,465 (GRCm39) |
missense |
probably benign |
0.24 |
R1716:Arhgef38
|
UTSW |
3 |
132,846,598 (GRCm39) |
missense |
probably benign |
0.35 |
R1875:Arhgef38
|
UTSW |
3 |
132,839,501 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2118:Arhgef38
|
UTSW |
3 |
132,866,514 (GRCm39) |
missense |
probably benign |
0.31 |
R2119:Arhgef38
|
UTSW |
3 |
132,866,514 (GRCm39) |
missense |
probably benign |
0.31 |
R2122:Arhgef38
|
UTSW |
3 |
132,866,514 (GRCm39) |
missense |
probably benign |
0.31 |
R2417:Arhgef38
|
UTSW |
3 |
132,852,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R3832:Arhgef38
|
UTSW |
3 |
132,912,686 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4657:Arhgef38
|
UTSW |
3 |
132,940,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R4666:Arhgef38
|
UTSW |
3 |
132,846,533 (GRCm39) |
critical splice donor site |
probably null |
|
R4732:Arhgef38
|
UTSW |
3 |
132,838,030 (GRCm39) |
nonsense |
probably null |
|
R4733:Arhgef38
|
UTSW |
3 |
132,838,030 (GRCm39) |
nonsense |
probably null |
|
R5059:Arhgef38
|
UTSW |
3 |
132,843,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R5108:Arhgef38
|
UTSW |
3 |
132,843,029 (GRCm39) |
missense |
probably benign |
0.14 |
R5310:Arhgef38
|
UTSW |
3 |
132,822,227 (GRCm39) |
missense |
probably damaging |
0.98 |
R5820:Arhgef38
|
UTSW |
3 |
132,866,560 (GRCm39) |
missense |
probably benign |
0.44 |
R5987:Arhgef38
|
UTSW |
3 |
132,912,719 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6115:Arhgef38
|
UTSW |
3 |
132,838,374 (GRCm39) |
splice site |
probably null |
|
R6313:Arhgef38
|
UTSW |
3 |
132,940,469 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6339:Arhgef38
|
UTSW |
3 |
132,839,423 (GRCm39) |
missense |
probably benign |
0.35 |
R6356:Arhgef38
|
UTSW |
3 |
132,846,638 (GRCm39) |
missense |
probably benign |
0.01 |
R6648:Arhgef38
|
UTSW |
3 |
132,838,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R7050:Arhgef38
|
UTSW |
3 |
132,839,388 (GRCm39) |
start gained |
probably benign |
|
R7083:Arhgef38
|
UTSW |
3 |
132,838,197 (GRCm39) |
missense |
unknown |
|
R7561:Arhgef38
|
UTSW |
3 |
132,866,489 (GRCm39) |
missense |
|
|
R7769:Arhgef38
|
UTSW |
3 |
132,855,383 (GRCm39) |
missense |
unknown |
|
R8050:Arhgef38
|
UTSW |
3 |
132,843,323 (GRCm39) |
nonsense |
probably null |
|
R8471:Arhgef38
|
UTSW |
3 |
132,940,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R8835:Arhgef38
|
UTSW |
3 |
132,837,832 (GRCm39) |
missense |
unknown |
|
R9151:Arhgef38
|
UTSW |
3 |
132,912,706 (GRCm39) |
missense |
|
|
R9154:Arhgef38
|
UTSW |
3 |
132,837,924 (GRCm39) |
missense |
unknown |
|
R9263:Arhgef38
|
UTSW |
3 |
132,866,529 (GRCm39) |
missense |
|
|
R9367:Arhgef38
|
UTSW |
3 |
132,847,998 (GRCm39) |
missense |
unknown |
|
R9628:Arhgef38
|
UTSW |
3 |
132,838,025 (GRCm39) |
missense |
unknown |
|
R9799:Arhgef38
|
UTSW |
3 |
132,855,391 (GRCm39) |
missense |
unknown |
|
Z1177:Arhgef38
|
UTSW |
3 |
132,912,722 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |