Incidental Mutation 'R4650:Arhgef12'
| ID |
351226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef12
|
| Ensembl Gene |
ENSMUSG00000059495 |
| Gene Name |
Rho guanine nucleotide exchange factor 12 |
| Synonyms |
2310014B11Rik, LARG |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R4650 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42893266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 979
(V979A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072767]
[ENSMUST00000165665]
|
| AlphaFold |
Q8R4H2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072767
AA Change: V978A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: V978A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
64 |
N/A |
INTRINSIC |
|
PDZ
|
80 |
148 |
1.64e-19 |
SMART |
|
coiled coil region
|
196 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
313 |
N/A |
INTRINSIC |
|
Pfam:RGS-like
|
368 |
558 |
8.6e-87 |
PFAM |
|
low complexity region
|
583 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
663 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
733 |
N/A |
INTRINSIC |
|
RhoGEF
|
791 |
976 |
6.35e-66 |
SMART |
|
PH
|
1020 |
1134 |
6.26e-6 |
SMART |
|
low complexity region
|
1256 |
1269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165665
AA Change: V979A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: V979A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
64 |
N/A |
INTRINSIC |
|
PDZ
|
80 |
148 |
1.64e-19 |
SMART |
|
coiled coil region
|
196 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
313 |
N/A |
INTRINSIC |
|
Pfam:RGS-like
|
369 |
559 |
1.6e-88 |
PFAM |
|
low complexity region
|
584 |
597 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
734 |
N/A |
INTRINSIC |
|
RhoGEF
|
792 |
977 |
6.35e-66 |
SMART |
|
PH
|
1021 |
1135 |
6.26e-6 |
SMART |
|
low complexity region
|
1257 |
1270 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to certain vasoconstrictors and resistance to salt-induced hypertension. Mice homozygous for a different knock-out allele exhibit partial prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
T |
A |
16: 88,860,603 (GRCm39) |
Y77F |
unknown |
Het |
| 4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
| Aldoa |
A |
G |
7: 126,396,879 (GRCm39) |
S71P |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,739,752 (GRCm39) |
T674A |
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,817,365 (GRCm39) |
M1232I |
probably benign |
Het |
| Capza1 |
A |
G |
3: 104,752,296 (GRCm39) |
V14A |
probably damaging |
Het |
| Cdk2 |
A |
T |
10: 128,538,364 (GRCm39) |
I135N |
probably damaging |
Het |
| Celf4 |
A |
T |
18: 25,629,302 (GRCm39) |
M407K |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,392,235 (GRCm39) |
D532E |
probably benign |
Het |
| Cideb |
A |
G |
14: 55,992,688 (GRCm39) |
V76A |
possibly damaging |
Het |
| Dbpht2 |
C |
G |
12: 74,345,933 (GRCm39) |
|
noncoding transcript |
Het |
| Dis3l2 |
A |
G |
1: 86,918,043 (GRCm39) |
D550G |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,006,844 (GRCm39) |
|
probably null |
Het |
| Edc4 |
T |
A |
8: 106,619,307 (GRCm39) |
L1293* |
probably null |
Het |
| Elp5 |
A |
G |
11: 69,860,398 (GRCm39) |
V203A |
possibly damaging |
Het |
| Fndc7 |
T |
C |
3: 108,770,135 (GRCm39) |
N597S |
probably benign |
Het |
| Gjb3 |
T |
C |
4: 127,220,484 (GRCm39) |
Y16C |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,680,712 (GRCm39) |
D128G |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,363,025 (GRCm39) |
|
probably null |
Het |
| Gon4l |
G |
A |
3: 88,770,859 (GRCm39) |
D514N |
possibly damaging |
Het |
| Grhl3 |
T |
A |
4: 135,276,547 (GRCm39) |
|
probably null |
Het |
| Hoxc10 |
T |
C |
15: 102,875,698 (GRCm39) |
S136P |
probably benign |
Het |
| Ift22 |
G |
A |
5: 136,940,655 (GRCm39) |
V107I |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
| Lgi4 |
G |
A |
7: 30,768,554 (GRCm39) |
A518T |
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,250,052 (GRCm39) |
N290K |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,013,734 (GRCm39) |
C1092S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,412 (GRCm39) |
I2450V |
probably benign |
Het |
| Mefv |
A |
G |
16: 3,535,682 (GRCm39) |
L82P |
probably damaging |
Het |
| Myb |
A |
G |
10: 21,028,840 (GRCm39) |
L86P |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,977,270 (GRCm39) |
T333M |
probably damaging |
Het |
| Nek11 |
T |
C |
9: 105,225,279 (GRCm39) |
N78D |
possibly damaging |
Het |
| Nmi |
C |
A |
2: 51,838,646 (GRCm39) |
C296F |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,181,895 (GRCm39) |
T1163S |
probably benign |
Het |
| Npy4r |
C |
T |
14: 33,868,181 (GRCm39) |
G369D |
possibly damaging |
Het |
| Ola1 |
T |
C |
2: 72,972,309 (GRCm39) |
T221A |
probably damaging |
Het |
| Or51d1 |
A |
G |
7: 102,348,027 (GRCm39) |
D194G |
probably damaging |
Het |
| Or8c11 |
T |
C |
9: 38,289,699 (GRCm39) |
F168S |
probably damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,633,200 (GRCm39) |
N184K |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,513,088 (GRCm39) |
V129A |
probably benign |
Het |
| Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
| Pth |
A |
T |
7: 112,985,026 (GRCm39) |
*116K |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
| Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
| Rwdd3 |
A |
G |
3: 120,952,826 (GRCm39) |
F55S |
probably damaging |
Het |
| Serpinb9d |
A |
T |
13: 33,386,836 (GRCm39) |
L301F |
probably benign |
Het |
| Slc35e4 |
A |
G |
11: 3,862,677 (GRCm39) |
C171R |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,758,424 (GRCm39) |
I529K |
possibly damaging |
Het |
| Styk1 |
A |
T |
6: 131,277,532 (GRCm39) |
W370R |
probably damaging |
Het |
| Tmprss11e |
C |
A |
5: 86,875,212 (GRCm39) |
W18L |
probably damaging |
Het |
| Trpv1 |
A |
C |
11: 73,129,089 (GRCm39) |
E2A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,261,035 (GRCm39) |
I1799N |
probably damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,196,422 (GRCm39) |
C335Y |
possibly damaging |
Het |
| Vps37c |
C |
T |
19: 10,690,273 (GRCm39) |
S245L |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,745,537 (GRCm39) |
T1191A |
probably benign |
Het |
| Zfp13 |
A |
G |
17: 23,799,112 (GRCm39) |
L153P |
probably damaging |
Het |
| Zfp472 |
T |
G |
17: 33,196,631 (GRCm39) |
S235R |
possibly damaging |
Het |
|
| Other mutations in Arhgef12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Arhgef12
|
APN |
9 |
42,931,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00942:Arhgef12
|
APN |
9 |
42,893,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01529:Arhgef12
|
APN |
9 |
42,901,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Arhgef12
|
APN |
9 |
42,934,137 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02039:Arhgef12
|
APN |
9 |
42,883,563 (GRCm39) |
missense |
probably benign |
|
|
IGL02135:Arhgef12
|
APN |
9 |
42,883,461 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02272:Arhgef12
|
APN |
9 |
42,912,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02498:Arhgef12
|
APN |
9 |
42,893,339 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02507:Arhgef12
|
APN |
9 |
42,903,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02574:Arhgef12
|
APN |
9 |
42,916,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02586:Arhgef12
|
APN |
9 |
42,917,200 (GRCm39) |
nonsense |
probably null |
|
|
IGL02803:Arhgef12
|
APN |
9 |
42,883,324 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02892:Arhgef12
|
APN |
9 |
42,912,268 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02937:Arhgef12
|
APN |
9 |
42,927,216 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02992:Arhgef12
|
APN |
9 |
42,910,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Arhgef12
|
APN |
9 |
42,937,524 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03146:Arhgef12
|
APN |
9 |
42,885,866 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03193:Arhgef12
|
APN |
9 |
42,903,829 (GRCm39) |
splice site |
probably benign |
|
|
IGL03398:Arhgef12
|
APN |
9 |
42,889,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Arhgef12
|
UTSW |
9 |
42,889,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Arhgef12
|
UTSW |
9 |
42,916,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Arhgef12
|
UTSW |
9 |
42,883,300 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0330:Arhgef12
|
UTSW |
9 |
42,931,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0364:Arhgef12
|
UTSW |
9 |
42,929,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0426:Arhgef12
|
UTSW |
9 |
42,882,286 (GRCm39) |
splice site |
probably null |
|
|
R0658:Arhgef12
|
UTSW |
9 |
42,893,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0686:Arhgef12
|
UTSW |
9 |
42,904,324 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0693:Arhgef12
|
UTSW |
9 |
42,929,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0990:Arhgef12
|
UTSW |
9 |
42,883,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1147:Arhgef12
|
UTSW |
9 |
42,955,552 (GRCm39) |
unclassified |
probably benign |
|
|
R1395:Arhgef12
|
UTSW |
9 |
42,917,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1419:Arhgef12
|
UTSW |
9 |
42,938,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1451:Arhgef12
|
UTSW |
9 |
42,903,874 (GRCm39) |
splice site |
probably benign |
|
|
R1458:Arhgef12
|
UTSW |
9 |
42,900,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1654:Arhgef12
|
UTSW |
9 |
42,908,956 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1722:Arhgef12
|
UTSW |
9 |
42,932,013 (GRCm39) |
makesense |
probably null |
|
|
R1773:Arhgef12
|
UTSW |
9 |
42,916,838 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1895:Arhgef12
|
UTSW |
9 |
42,917,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Arhgef12
|
UTSW |
9 |
42,890,768 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2215:Arhgef12
|
UTSW |
9 |
42,917,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Arhgef12
|
UTSW |
9 |
42,912,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3967:Arhgef12
|
UTSW |
9 |
42,916,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3968:Arhgef12
|
UTSW |
9 |
42,916,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3969:Arhgef12
|
UTSW |
9 |
42,916,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Arhgef12
|
UTSW |
9 |
42,886,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4079:Arhgef12
|
UTSW |
9 |
42,886,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4111:Arhgef12
|
UTSW |
9 |
42,883,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4302:Arhgef12
|
UTSW |
9 |
42,929,645 (GRCm39) |
nonsense |
probably null |
|
|
R4327:Arhgef12
|
UTSW |
9 |
42,886,525 (GRCm39) |
nonsense |
probably null |
|
|
R4462:Arhgef12
|
UTSW |
9 |
42,893,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Arhgef12
|
UTSW |
9 |
42,888,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Arhgef12
|
UTSW |
9 |
42,921,489 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4741:Arhgef12
|
UTSW |
9 |
42,883,449 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4823:Arhgef12
|
UTSW |
9 |
42,931,992 (GRCm39) |
missense |
probably benign |
|
|
R4840:Arhgef12
|
UTSW |
9 |
42,886,364 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4912:Arhgef12
|
UTSW |
9 |
42,904,361 (GRCm39) |
nonsense |
probably null |
|
|
R5176:Arhgef12
|
UTSW |
9 |
42,931,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5426:Arhgef12
|
UTSW |
9 |
42,897,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Arhgef12
|
UTSW |
9 |
42,921,489 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5838:Arhgef12
|
UTSW |
9 |
42,916,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Arhgef12
|
UTSW |
9 |
42,900,261 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6741:Arhgef12
|
UTSW |
9 |
42,883,503 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6959:Arhgef12
|
UTSW |
9 |
42,927,249 (GRCm39) |
missense |
probably benign |
|
|
R7252:Arhgef12
|
UTSW |
9 |
42,927,205 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7470:Arhgef12
|
UTSW |
9 |
42,951,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Arhgef12
|
UTSW |
9 |
42,903,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Arhgef12
|
UTSW |
9 |
42,938,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Arhgef12
|
UTSW |
9 |
42,882,595 (GRCm39) |
nonsense |
probably null |
|
|
R8074:Arhgef12
|
UTSW |
9 |
42,882,399 (GRCm39) |
nonsense |
probably null |
|
|
R8155:Arhgef12
|
UTSW |
9 |
42,953,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8270:Arhgef12
|
UTSW |
9 |
42,882,354 (GRCm39) |
missense |
probably benign |
|
|
R8407:Arhgef12
|
UTSW |
9 |
42,937,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8527:Arhgef12
|
UTSW |
9 |
42,908,944 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9116:Arhgef12
|
UTSW |
9 |
42,893,241 (GRCm39) |
splice site |
probably benign |
|
|
R9127:Arhgef12
|
UTSW |
9 |
42,885,870 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9602:Arhgef12
|
UTSW |
9 |
42,895,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Arhgef12
|
UTSW |
9 |
42,929,650 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9733:Arhgef12
|
UTSW |
9 |
42,901,294 (GRCm39) |
nonsense |
probably null |
|
|
R9735:Arhgef12
|
UTSW |
9 |
42,882,399 (GRCm39) |
nonsense |
probably null |
|
|
R9760:Arhgef12
|
UTSW |
9 |
42,903,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Arhgef12
|
UTSW |
9 |
42,901,285 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1176:Arhgef12
|
UTSW |
9 |
42,882,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Arhgef12
|
UTSW |
9 |
42,911,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCAAATTTCCTCCTGGGG -3'
(R):5'- TGGATAGAGACTGTGCCATAGG -3'
Sequencing Primer
(F):5'- GGGGCCTCATCATTTTGACTCAAAC -3'
(R):5'- CCTGGAATTCACTTTGTAGACCAGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation