Incidental Mutation 'R6959:Arhgef12'
ID |
541657 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef12
|
Ensembl Gene |
ENSMUSG00000059495 |
Gene Name |
Rho guanine nucleotide exchange factor 12 |
Synonyms |
2310014B11Rik, LARG |
MMRRC Submission |
045069-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
R6959 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42927249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 292
(T292A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072767]
[ENSMUST00000165665]
|
AlphaFold |
Q8R4H2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072767
AA Change: T292A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072547 Gene: ENSMUSG00000059495 AA Change: T292A
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 benign
Transcript: ENSMUST00000165665
AA Change: T292A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126598 Gene: ENSMUSG00000059495 AA Change: T292A
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213566
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
Validation Efficiency |
94% (61/65) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
G |
A |
11: 70,507,485 (GRCm39) |
G177R |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,870,467 (GRCm39) |
D173E |
probably damaging |
Het |
Bltp1 |
T |
G |
3: 37,021,338 (GRCm39) |
V2154G |
probably damaging |
Het |
Btnl2 |
G |
A |
17: 34,582,333 (GRCm39) |
V300M |
possibly damaging |
Het |
Calcrl |
A |
T |
2: 84,200,428 (GRCm39) |
N117K |
possibly damaging |
Het |
Castor2 |
T |
C |
5: 134,164,052 (GRCm39) |
S83P |
probably damaging |
Het |
Ccdc196 |
A |
G |
12: 78,249,070 (GRCm39) |
K139E |
probably damaging |
Het |
Ccl22 |
A |
T |
8: 95,473,528 (GRCm39) |
|
probably null |
Het |
Cd200r1 |
T |
A |
16: 44,610,539 (GRCm39) |
S216T |
probably damaging |
Het |
Cdk5rap2 |
G |
A |
4: 70,278,906 (GRCm39) |
|
probably null |
Het |
Cfap157 |
A |
G |
2: 32,674,260 (GRCm39) |
I47T |
probably damaging |
Het |
Chodl |
G |
A |
16: 78,743,572 (GRCm39) |
V220I |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
Cstf3 |
A |
G |
2: 104,479,807 (GRCm39) |
T225A |
probably benign |
Het |
Duoxa1 |
T |
C |
2: 122,134,318 (GRCm39) |
S267G |
probably damaging |
Het |
Epb41l1 |
G |
A |
2: 156,341,507 (GRCm39) |
S164N |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,908,181 (GRCm39) |
D2607G |
possibly damaging |
Het |
Galnt5 |
A |
G |
2: 57,889,231 (GRCm39) |
D277G |
probably benign |
Het |
Galnt6 |
A |
G |
15: 100,612,006 (GRCm39) |
I212T |
probably damaging |
Het |
Gm45861 |
T |
C |
8: 28,038,213 (GRCm39) |
|
probably null |
Het |
Gm5478 |
T |
C |
15: 101,553,883 (GRCm39) |
D243G |
probably damaging |
Het |
Gse1 |
A |
G |
8: 121,297,710 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,246,600 (GRCm39) |
Q1096L |
probably benign |
Het |
Hycc1 |
T |
C |
5: 24,196,754 (GRCm39) |
I45V |
possibly damaging |
Het |
Idh3b |
A |
G |
2: 130,123,447 (GRCm39) |
V181A |
probably damaging |
Het |
Igf2bp3 |
T |
C |
6: 49,094,082 (GRCm39) |
|
probably null |
Het |
Ikzf2 |
A |
G |
1: 69,577,929 (GRCm39) |
*382Q |
probably null |
Het |
Impg2 |
A |
C |
16: 56,088,693 (GRCm39) |
H1073P |
probably benign |
Het |
Incenp |
T |
C |
19: 9,854,134 (GRCm39) |
E639G |
unknown |
Het |
Kcne4 |
A |
G |
1: 78,795,603 (GRCm39) |
M84V |
probably benign |
Het |
Ktn1 |
T |
A |
14: 47,957,713 (GRCm39) |
F1004I |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 16,222,820 (GRCm39) |
I2040V |
probably damaging |
Het |
Mau2 |
T |
C |
8: 70,485,878 (GRCm39) |
D110G |
probably damaging |
Het |
Mei1 |
T |
C |
15: 82,009,076 (GRCm39) |
V1237A |
probably benign |
Het |
Mfsd11 |
T |
G |
11: 116,752,495 (GRCm39) |
|
probably null |
Het |
Ncapd2 |
A |
G |
6: 125,145,883 (GRCm39) |
F1293L |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,440,294 (GRCm39) |
T280A |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,928,411 (GRCm39) |
A6085E |
probably damaging |
Het |
Or51b6b |
T |
A |
7: 103,310,050 (GRCm39) |
I136F |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,375,993 (GRCm39) |
A1381T |
probably benign |
Het |
Pramel41 |
T |
A |
5: 94,594,891 (GRCm39) |
N250K |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,184,621 (GRCm39) |
V1462A |
probably damaging |
Het |
Rbx1 |
T |
A |
15: 81,355,163 (GRCm39) |
C56* |
probably null |
Het |
Reln |
A |
G |
5: 22,181,562 (GRCm39) |
S1774P |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
Sarnp |
T |
C |
10: 128,684,137 (GRCm39) |
V111A |
possibly damaging |
Het |
Scube1 |
G |
T |
15: 83,513,636 (GRCm39) |
Q345K |
probably benign |
Het |
Slc18b1 |
A |
G |
10: 23,701,942 (GRCm39) |
|
probably null |
Het |
Slc37a2 |
T |
A |
9: 37,152,630 (GRCm39) |
T64S |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,395,727 (GRCm39) |
D710G |
possibly damaging |
Het |
Srp72 |
T |
A |
5: 77,142,070 (GRCm39) |
Y375N |
possibly damaging |
Het |
Tmco4 |
T |
A |
4: 138,737,810 (GRCm39) |
V135D |
probably damaging |
Het |
Trim62 |
A |
G |
4: 128,802,955 (GRCm39) |
D335G |
probably damaging |
Het |
Tsfm |
T |
C |
10: 126,858,778 (GRCm39) |
M196V |
probably benign |
Het |
Tspan10 |
T |
A |
11: 120,335,522 (GRCm39) |
C211S |
probably damaging |
Het |
Ttc21b |
A |
T |
2: 66,061,656 (GRCm39) |
M498K |
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,704,928 (GRCm39) |
|
probably null |
Het |
Ttll1 |
G |
T |
15: 83,386,397 (GRCm39) |
Y69* |
probably null |
Het |
Usp28 |
T |
A |
9: 48,912,842 (GRCm39) |
L31H |
probably damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,282,400 (GRCm39) |
S739P |
probably damaging |
Het |
Wdr64 |
T |
A |
1: 175,533,555 (GRCm39) |
F64I |
probably damaging |
Het |
Ywhaq |
A |
G |
12: 21,446,281 (GRCm39) |
|
probably null |
Het |
Zfr |
T |
C |
15: 12,150,409 (GRCm39) |
S459P |
probably 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 |
R4650:Arhgef12
|
UTSW |
9 |
42,893,266 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CACAGAAGAGTGTGCAGAACTTC -3'
(R):5'- TTGGTAGCCAGCCCTTAAC -3'
Sequencing Primer
(F):5'- CACATAGCTTAAGAAAGGGA -3'
(R):5'- TCCATGTAGAATGTATGGGCAC -3'
|
Posted On |
2018-11-28 |