Incidental Mutation 'R0765:Arhgef38'
| ID |
72596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef38
|
| Ensembl Gene |
ENSMUSG00000040969 |
| Gene Name |
Rho guanine nucleotide exchange factor 38 |
| Synonyms |
D630013G24Rik, 9130221D24Rik |
| MMRRC Submission |
038945-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
132818039-132940710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132822344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 724
(E724K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054105]
[ENSMUST00000147041]
|
| AlphaFold |
Q80VK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054105
AA Change: E141K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969
AA Change: E141K
| 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 |
probably damaging
Transcript: ENSMUST00000147041
AA Change: E724K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: E724K
| 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 |
|
| Meta Mutation Damage Score |
0.6395 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.7%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,320,827 (GRCm39) |
V425D |
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,687,097 (GRCm39) |
I381L |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,066,518 (GRCm39) |
L4496F |
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,214,070 (GRCm39) |
|
probably null |
Het |
| Baiap2l1 |
G |
T |
5: 144,214,513 (GRCm39) |
P394T |
probably damaging |
Het |
| Btbd8 |
T |
A |
5: 107,654,800 (GRCm39) |
D354E |
probably benign |
Het |
| Cnbp |
C |
A |
6: 87,822,155 (GRCm39) |
C122F |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,375,811 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
G |
14: 31,247,994 (GRCm39) |
D408A |
possibly damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,917,824 (GRCm39) |
S259T |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,220 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
C |
A |
13: 55,630,107 (GRCm39) |
V112F |
probably damaging |
Het |
| Dcc |
T |
A |
18: 71,496,061 (GRCm39) |
D1028V |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,681,318 (GRCm39) |
V32A |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,587,703 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
C |
T |
7: 27,885,136 (GRCm39) |
|
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,759,987 (GRCm39) |
M208K |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,048,876 (GRCm39) |
I430V |
probably benign |
Het |
| Elovl2 |
T |
C |
13: 41,340,942 (GRCm39) |
Y181C |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,700,655 (GRCm39) |
Q225R |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,080,004 (GRCm39) |
R332Q |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,886,429 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
A |
1: 150,684,538 (GRCm39) |
T344M |
probably damaging |
Het |
| Il1rap |
T |
G |
16: 26,529,382 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,356,055 (GRCm39) |
|
probably benign |
Het |
| Larp7 |
C |
A |
3: 127,339,814 (GRCm39) |
K289N |
probably damaging |
Het |
| Lgr6 |
C |
A |
1: 134,921,624 (GRCm39) |
G240V |
probably benign |
Het |
| Lrp10 |
G |
T |
14: 54,705,547 (GRCm39) |
D246Y |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,202,269 (GRCm39) |
V167I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,776,608 (GRCm39) |
S347P |
probably damaging |
Het |
| Mybph |
T |
C |
1: 134,125,234 (GRCm39) |
V254A |
possibly damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,408,073 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
A |
T |
1: 169,350,505 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,027,184 (GRCm39) |
Y189H |
probably damaging |
Het |
| Or4c52 |
G |
A |
2: 89,846,014 (GRCm39) |
V247I |
probably benign |
Het |
| Or51t4 |
C |
T |
7: 102,597,939 (GRCm39) |
T79I |
probably damaging |
Het |
| Or5m13 |
T |
C |
2: 85,749,049 (GRCm39) |
L260P |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,348,648 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
T |
C |
1: 106,320,013 (GRCm39) |
L1336P |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,818,734 (GRCm39) |
T9A |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,313,921 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
T |
7: 46,349,071 (GRCm39) |
V281E |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,030,879 (GRCm39) |
Q186* |
probably null |
Het |
| Slc6a2 |
A |
G |
8: 93,715,659 (GRCm39) |
T266A |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,623,507 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tesk1 |
C |
T |
4: 43,446,706 (GRCm39) |
P365S |
possibly damaging |
Het |
| Tmem127 |
C |
A |
2: 127,099,069 (GRCm39) |
T201K |
probably damaging |
Het |
| Trim17 |
T |
G |
11: 58,862,195 (GRCm39) |
V409G |
possibly damaging |
Het |
| Trim43c |
C |
T |
9: 88,723,969 (GRCm39) |
T165I |
probably benign |
Het |
| Ush2a |
C |
A |
1: 188,680,771 (GRCm39) |
F4916L |
possibly damaging |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,467 (GRCm39) |
M68V |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,448,119 (GRCm39) |
D235G |
probably damaging |
Het |
| Vmn2r-ps134 |
C |
T |
17: 23,665,015 (GRCm39) |
|
noncoding transcript |
Het |
| Zdbf2 |
G |
A |
1: 63,344,882 (GRCm39) |
S1087N |
possibly damaging |
Het |
| Zfp534 |
G |
A |
4: 147,758,693 (GRCm39) |
P659S |
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 |
|
|
IGL03031:Arhgef38
|
APN |
3 |
132,837,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGAAGCAAGATTTGTCTTCAAAACG -3'
(R):5'- GTGTGACTGTCAAAAGCAAGAACACC -3'
Sequencing Primer
(F):5'- GTCTTCAAAACGTGATACACTGTTC -3'
(R):5'- GAACACCTTAGCAGTGCTTC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation