Incidental Mutation 'R1395:Arhgef12'
ID |
162811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef12
|
Ensembl Gene |
ENSMUSG00000059495 |
Gene Name |
Rho guanine nucleotide exchange factor 12 |
Synonyms |
2310014B11Rik, LARG |
MMRRC Submission |
039457-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
R1395 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42917166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 391
(H391R)
|
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: H390R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072547 Gene: ENSMUSG00000059495 AA Change: H390R
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: H391R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126598 Gene: ENSMUSG00000059495 AA Change: H391R
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 |
0.6261 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
Validation Efficiency |
99% (70/71) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
A |
G |
5: 113,249,362 (GRCm39) |
Y122H |
probably damaging |
Het |
A330070K13Rik |
A |
G |
5: 130,407,982 (GRCm39) |
|
probably benign |
Het |
Abcc2 |
A |
G |
19: 43,822,379 (GRCm39) |
R1406G |
probably benign |
Het |
Adgrv1 |
G |
T |
13: 81,534,907 (GRCm39) |
T5786K |
probably benign |
Het |
Ankrd27 |
T |
C |
7: 35,315,294 (GRCm39) |
F481S |
possibly damaging |
Het |
Arhgap11a |
C |
T |
2: 113,663,467 (GRCm39) |
V939I |
probably benign |
Het |
Arhgap12 |
T |
C |
18: 6,037,058 (GRCm39) |
N561S |
probably benign |
Het |
Asb3 |
T |
C |
11: 31,051,032 (GRCm39) |
|
probably benign |
Het |
C2cd5 |
T |
C |
6: 143,007,464 (GRCm39) |
|
probably benign |
Het |
Ccdc85a |
T |
C |
11: 28,533,412 (GRCm39) |
K44R |
possibly damaging |
Het |
Cep128 |
C |
T |
12: 91,233,754 (GRCm39) |
R438Q |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,991,992 (GRCm39) |
T1957A |
probably damaging |
Het |
Col20a1 |
T |
A |
2: 180,640,400 (GRCm39) |
V519E |
probably damaging |
Het |
Cylc2 |
A |
G |
4: 51,228,366 (GRCm39) |
K146E |
possibly damaging |
Het |
Drgx |
C |
T |
14: 32,330,326 (GRCm39) |
P148S |
probably benign |
Het |
Dst |
T |
C |
1: 34,204,236 (GRCm39) |
|
probably null |
Het |
Eef1a1 |
C |
T |
9: 78,386,300 (GRCm39) |
V402I |
probably benign |
Het |
Esyt3 |
T |
C |
9: 99,198,835 (GRCm39) |
|
probably benign |
Het |
Extl3 |
A |
G |
14: 65,314,945 (GRCm39) |
V79A |
possibly damaging |
Het |
Fat3 |
C |
T |
9: 16,158,212 (GRCm39) |
V1133I |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,792,804 (GRCm39) |
H936R |
probably damaging |
Het |
Fdxacb1 |
TAGAC |
T |
9: 50,683,796 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
Gm44511 |
G |
A |
6: 128,797,293 (GRCm39) |
S32L |
possibly damaging |
Het |
Gm8374 |
G |
T |
14: 18,537,058 (GRCm39) |
N55K |
probably benign |
Het |
Gria1 |
T |
A |
11: 57,174,392 (GRCm39) |
I558N |
probably damaging |
Het |
Gse1 |
G |
T |
8: 121,301,738 (GRCm39) |
|
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,466,576 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
C |
9: 66,346,463 (GRCm39) |
I1943T |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,442,582 (GRCm39) |
|
probably benign |
Het |
Ift81 |
G |
T |
5: 122,706,986 (GRCm39) |
D485E |
probably benign |
Het |
Lactb |
T |
C |
9: 66,878,661 (GRCm39) |
|
probably benign |
Het |
Map1a |
C |
T |
2: 121,134,406 (GRCm39) |
H1741Y |
probably benign |
Het |
Map1lc3b |
T |
C |
8: 122,323,459 (GRCm39) |
Y110H |
probably benign |
Het |
Mlh1 |
T |
C |
9: 111,076,445 (GRCm39) |
D304G |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,802,714 (GRCm39) |
D386G |
probably damaging |
Het |
Ncoa4 |
T |
A |
14: 31,894,798 (GRCm39) |
|
probably null |
Het |
Neto1 |
T |
C |
18: 86,416,144 (GRCm39) |
|
probably benign |
Het |
Nf1 |
T |
C |
11: 79,426,809 (GRCm39) |
V1741A |
possibly damaging |
Het |
Nkain2 |
C |
A |
10: 32,766,185 (GRCm39) |
|
probably benign |
Het |
Obsl1 |
T |
C |
1: 75,469,309 (GRCm39) |
S109G |
probably damaging |
Het |
Or51ah3 |
T |
C |
7: 103,210,326 (GRCm39) |
L214P |
possibly damaging |
Het |
Or51f23 |
G |
A |
7: 102,453,414 (GRCm39) |
C243Y |
possibly damaging |
Het |
Or6z6 |
T |
A |
7: 6,491,361 (GRCm39) |
T171S |
probably damaging |
Het |
Or9s13 |
T |
A |
1: 92,548,267 (GRCm39) |
I213N |
probably benign |
Het |
Phlpp1 |
T |
C |
1: 106,278,348 (GRCm39) |
V920A |
possibly damaging |
Het |
Psen1 |
G |
A |
12: 83,771,346 (GRCm39) |
G209R |
probably damaging |
Het |
Ralgapa2 |
T |
G |
2: 146,230,420 (GRCm39) |
K963N |
probably damaging |
Het |
Rdh12 |
A |
G |
12: 79,255,839 (GRCm39) |
T9A |
probably benign |
Het |
Rgma |
G |
T |
7: 73,067,542 (GRCm39) |
A360S |
probably benign |
Het |
Sag |
G |
A |
1: 87,756,163 (GRCm39) |
V257I |
probably benign |
Het |
Scaf1 |
T |
C |
7: 44,657,721 (GRCm39) |
E386G |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,143,630 (GRCm39) |
E1055G |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Spata31e5 |
T |
C |
1: 28,815,890 (GRCm39) |
E714G |
possibly damaging |
Het |
Spata46 |
A |
G |
1: 170,139,573 (GRCm39) |
T191A |
probably benign |
Het |
Tgm2 |
T |
A |
2: 157,966,172 (GRCm39) |
H494L |
probably benign |
Het |
Tub |
C |
T |
7: 108,620,161 (GRCm39) |
R102* |
probably null |
Het |
Ugt3a1 |
T |
G |
15: 9,306,378 (GRCm39) |
L176V |
possibly damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,442,014 (GRCm39) |
I140L |
probably benign |
Het |
Wdr44 |
T |
G |
X: 23,662,298 (GRCm39) |
C645G |
probably damaging |
Het |
Wdr87-ps |
T |
A |
7: 29,230,812 (GRCm39) |
|
noncoding transcript |
Het |
Zfp322a |
C |
T |
13: 23,540,945 (GRCm39) |
V266I |
probably benign |
Het |
Zfp663 |
T |
C |
2: 165,194,492 (GRCm39) |
R576G |
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 |
|
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'- TGATGAAACTCCAGGAAGACACGC -3'
(R):5'- GGACATTCCAGACGGAACCCATTAC -3'
Sequencing Primer
(F):5'- TCTGAATAGAGATAACAGAGCTGTC -3'
(R):5'- cagacggaacccattacaGAAG -3'
|
Posted On |
2014-03-17 |