Incidental Mutation 'R0143:Arhgef12'
ID |
22447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef12
|
Ensembl Gene |
ENSMUSG00000059495 |
Gene Name |
Rho guanine nucleotide exchange factor 12 |
Synonyms |
2310014B11Rik, LARG |
MMRRC Submission |
038428-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
R0143 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
9 |
Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42916890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 419
(T419A)
|
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: T418A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072547 Gene: ENSMUSG00000059495 AA Change: T418A
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: T419A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126598 Gene: ENSMUSG00000059495 AA Change: T419A
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 |
|
Meta Mutation Damage Score |
0.1219 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
97% (76/78) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
A |
T |
18: 61,988,288 (GRCm39) |
I145N |
probably benign |
Het |
Ankrd1 |
G |
A |
19: 36,096,713 (GRCm39) |
A38V |
probably benign |
Het |
Ankrd34b |
A |
G |
13: 92,576,268 (GRCm39) |
E500G |
probably damaging |
Het |
B3galt2 |
A |
T |
1: 143,523,072 (GRCm39) |
N403Y |
possibly damaging |
Het |
Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
C4b |
G |
A |
17: 34,953,193 (GRCm39) |
|
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,324,693 (GRCm39) |
|
probably null |
Het |
Cdh3 |
T |
C |
8: 107,237,857 (GRCm39) |
V17A |
probably benign |
Het |
Cog7 |
A |
T |
7: 121,550,387 (GRCm39) |
L379Q |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,837,336 (GRCm39) |
N1044S |
possibly damaging |
Het |
Cyp4b1 |
C |
T |
4: 115,493,071 (GRCm39) |
D258N |
probably damaging |
Het |
Ddx39a |
T |
C |
8: 84,447,179 (GRCm39) |
V113A |
probably benign |
Het |
Dennd4b |
A |
T |
3: 90,179,671 (GRCm39) |
H643L |
probably damaging |
Het |
Dpy19l3 |
T |
C |
7: 35,413,640 (GRCm39) |
T334A |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,669,882 (GRCm39) |
L632S |
probably damaging |
Het |
Dtx4 |
G |
A |
19: 12,463,846 (GRCm39) |
T312I |
probably damaging |
Het |
Dusp18 |
C |
T |
11: 3,847,243 (GRCm39) |
R78C |
probably benign |
Het |
Fes |
A |
C |
7: 80,033,643 (GRCm39) |
F203V |
probably benign |
Het |
Fhad1 |
C |
A |
4: 141,656,957 (GRCm39) |
|
probably benign |
Het |
Gjb2 |
T |
C |
14: 57,337,526 (GRCm39) |
|
silent |
Het |
Gm5828 |
T |
C |
1: 16,838,579 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma |
A |
C |
11: 98,557,080 (GRCm39) |
E65A |
probably damaging |
Het |
Hck |
T |
A |
2: 152,976,140 (GRCm39) |
|
probably null |
Het |
Henmt1 |
A |
T |
3: 108,861,118 (GRCm39) |
H47L |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,005,099 (GRCm39) |
F566L |
probably damaging |
Het |
Hnrnpl |
T |
C |
7: 28,513,617 (GRCm39) |
|
probably benign |
Het |
Igsf3 |
T |
C |
3: 101,342,917 (GRCm39) |
I518T |
probably damaging |
Het |
Ireb2 |
T |
C |
9: 54,793,193 (GRCm39) |
F223L |
probably benign |
Het |
Isoc2a |
T |
C |
7: 4,894,331 (GRCm39) |
|
probably null |
Het |
Krt73 |
T |
A |
15: 101,709,208 (GRCm39) |
R200W |
probably damaging |
Het |
Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,429,811 (GRCm39) |
F420L |
probably damaging |
Het |
Mep1b |
T |
C |
18: 21,228,164 (GRCm39) |
|
probably benign |
Het |
Mex3a |
G |
T |
3: 88,443,562 (GRCm39) |
A213S |
probably benign |
Het |
Mmp13 |
T |
C |
9: 7,276,558 (GRCm39) |
F218L |
probably damaging |
Het |
Ncf1 |
G |
T |
5: 134,255,991 (GRCm39) |
|
probably benign |
Het |
Notch2 |
A |
G |
3: 98,053,433 (GRCm39) |
D2032G |
probably damaging |
Het |
Or10h28 |
T |
C |
17: 33,488,471 (GRCm39) |
S258P |
probably damaging |
Het |
Or5p1 |
A |
G |
7: 107,916,202 (GRCm39) |
I34V |
probably benign |
Het |
Or9i1b |
A |
C |
19: 13,896,614 (GRCm39) |
I77L |
probably damaging |
Het |
Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
Pex5 |
A |
T |
6: 124,375,448 (GRCm39) |
W525R |
probably damaging |
Het |
Plcb4 |
T |
A |
2: 135,818,131 (GRCm39) |
I799N |
probably damaging |
Het |
Poldip3 |
G |
A |
15: 83,012,144 (GRCm39) |
L372F |
probably damaging |
Het |
Polg2 |
C |
A |
11: 106,668,352 (GRCm39) |
V174L |
probably benign |
Het |
Prrt4 |
C |
G |
6: 29,170,670 (GRCm39) |
G594A |
probably damaging |
Het |
Prss1 |
A |
G |
6: 41,440,522 (GRCm39) |
D199G |
probably damaging |
Het |
Rbms2 |
T |
A |
10: 127,973,823 (GRCm39) |
Q207L |
probably benign |
Het |
Retreg2 |
A |
G |
1: 75,123,074 (GRCm39) |
D334G |
possibly damaging |
Het |
Slc6a15 |
T |
G |
10: 103,253,929 (GRCm39) |
C622G |
probably benign |
Het |
Spdya |
T |
A |
17: 71,865,635 (GRCm39) |
D84E |
probably damaging |
Het |
Stat3 |
A |
T |
11: 100,785,982 (GRCm39) |
S432T |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,695,088 (GRCm39) |
V123E |
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,565,651 (GRCm39) |
|
probably benign |
Het |
Tnrc6c |
A |
C |
11: 117,643,811 (GRCm39) |
N1481H |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,701,389 (GRCm39) |
S234P |
probably damaging |
Het |
Tor1aip2 |
A |
T |
1: 155,935,294 (GRCm39) |
T10S |
probably benign |
Het |
Tpsab1 |
T |
A |
17: 25,562,418 (GRCm39) |
H303L |
probably benign |
Het |
Traf3 |
T |
A |
12: 111,228,010 (GRCm39) |
V407D |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,259,417 (GRCm39) |
D1035E |
probably benign |
Het |
Ttc38 |
T |
C |
15: 85,737,920 (GRCm39) |
V402A |
possibly damaging |
Het |
Ube4b |
C |
T |
4: 149,439,914 (GRCm39) |
R646H |
possibly damaging |
Het |
Usp8 |
C |
A |
2: 126,597,009 (GRCm39) |
|
probably benign |
Het |
Zdbf2 |
A |
T |
1: 63,347,233 (GRCm39) |
I1871F |
probably benign |
Het |
Zfp345 |
T |
A |
2: 150,314,475 (GRCm39) |
Q354L |
probably benign |
Het |
Zfp462 |
C |
A |
4: 55,023,402 (GRCm39) |
|
probably benign |
Het |
Zfp81 |
G |
A |
17: 33,554,095 (GRCm39) |
H240Y |
possibly damaging |
Het |
Zfp830 |
A |
G |
11: 82,655,994 (GRCm39) |
D266G |
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 |
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 |
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'- CAAAGCGCAGCAATTCGCTGAC -3'
(R):5'- CACAGTTTGACCCTGCAACATTGG -3'
Sequencing Primer
(F):5'- GGGCCACTCAGAATTCAGTTATC -3'
(R):5'- TGATTGAGCAGCCACATACTG -3'
|
Posted On |
2013-04-16 |