Incidental Mutation 'R4603:Arhgef12'
ID |
345792 |
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: 0.931)
|
Stock # |
R4603 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42921489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 329
(G329R)
|
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: G329R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000072547 Gene: ENSMUSG00000059495 AA Change: G329R
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: G329R
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000126598 Gene: ENSMUSG00000059495 AA Change: G329R
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: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
A |
G |
2: 127,029,019 (GRCm39) |
V60A |
probably damaging |
Het |
AAdacl4fm3 |
A |
G |
4: 144,429,798 (GRCm39) |
V397A |
probably benign |
Het |
Afg3l1 |
A |
G |
8: 124,228,674 (GRCm39) |
T747A |
probably benign |
Het |
Aldh4a1 |
T |
C |
4: 139,370,740 (GRCm39) |
S408P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,825,665 (GRCm39) |
T445A |
probably benign |
Het |
Antxrl |
A |
G |
14: 33,797,792 (GRCm39) |
E589G |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
AY358078 |
T |
A |
14: 52,063,532 (GRCm39) |
C393S |
possibly damaging |
Het |
Bpnt2 |
T |
C |
4: 4,767,878 (GRCm39) |
I299M |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,459,630 (GRCm39) |
C302S |
possibly damaging |
Het |
Ccdc169 |
T |
A |
3: 55,058,226 (GRCm39) |
M4K |
probably benign |
Het |
Ccdc66 |
T |
C |
14: 27,222,377 (GRCm39) |
N122S |
probably damaging |
Het |
Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
Cdc73 |
T |
C |
1: 143,553,595 (GRCm39) |
|
probably null |
Het |
Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
Cse1l |
T |
C |
2: 166,786,452 (GRCm39) |
V604A |
probably benign |
Het |
Cxcr1 |
G |
C |
1: 74,231,896 (GRCm39) |
T42S |
probably benign |
Het |
Dhx9 |
TCC |
TC |
1: 153,342,797 (GRCm39) |
|
probably null |
Het |
Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
Erp27 |
A |
G |
6: 136,896,947 (GRCm39) |
V85A |
probably damaging |
Het |
Fam3d |
T |
A |
14: 8,358,429 (GRCm38) |
S57C |
probably damaging |
Het |
Fgf8 |
T |
G |
19: 45,726,592 (GRCm39) |
I137L |
probably benign |
Het |
Fgfrl1 |
T |
A |
5: 108,851,401 (GRCm39) |
V106D |
probably damaging |
Het |
Gaa |
T |
C |
11: 119,169,784 (GRCm39) |
W613R |
probably damaging |
Het |
Gabarap |
A |
G |
11: 69,885,287 (GRCm39) |
N66S |
probably benign |
Het |
Gp1bb |
A |
T |
16: 18,439,893 (GRCm39) |
L67Q |
probably damaging |
Het |
Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
Gstt1 |
T |
C |
10: 75,629,969 (GRCm39) |
Y48C |
probably damaging |
Het |
Iqcg |
C |
T |
16: 32,861,134 (GRCm39) |
R194K |
probably null |
Het |
Iqcg |
C |
G |
16: 32,861,133 (GRCm39) |
|
probably null |
Het |
Kcnj3 |
C |
T |
2: 55,336,991 (GRCm39) |
R286* |
probably null |
Het |
Klhl38 |
T |
A |
15: 58,186,616 (GRCm39) |
I38F |
possibly damaging |
Het |
Kmo |
C |
A |
1: 175,479,208 (GRCm39) |
P248Q |
probably benign |
Het |
Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
Mcpt9 |
C |
T |
14: 56,266,049 (GRCm39) |
V60M |
probably damaging |
Het |
Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
Mprip |
T |
C |
11: 59,622,399 (GRCm39) |
V162A |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Myocd |
T |
C |
11: 65,078,571 (GRCm39) |
D408G |
possibly damaging |
Het |
Myt1l |
A |
G |
12: 29,892,539 (GRCm39) |
T59A |
probably benign |
Het |
Ndufb7 |
A |
G |
8: 84,293,494 (GRCm39) |
E16G |
probably damaging |
Het |
Ndufs7 |
T |
A |
10: 80,092,501 (GRCm39) |
Y203* |
probably null |
Het |
Nploc4 |
C |
T |
11: 120,276,613 (GRCm39) |
V478I |
probably benign |
Het |
Nrap |
A |
G |
19: 56,323,456 (GRCm39) |
|
probably null |
Het |
Or5e1 |
A |
T |
7: 108,354,834 (GRCm39) |
Y257F |
probably damaging |
Het |
Or6c207 |
G |
A |
10: 129,104,274 (GRCm39) |
A306V |
probably benign |
Het |
Pald1 |
T |
C |
10: 61,184,395 (GRCm39) |
T241A |
probably benign |
Het |
Pdss2 |
T |
C |
10: 43,248,197 (GRCm39) |
S234P |
probably damaging |
Het |
Pias2 |
T |
A |
18: 77,217,803 (GRCm39) |
V335E |
probably damaging |
Het |
Ppip5k2 |
C |
A |
1: 97,682,861 (GRCm39) |
K187N |
probably damaging |
Het |
Ppp3cb |
T |
C |
14: 20,570,714 (GRCm39) |
N339S |
possibly damaging |
Het |
Ppp4r1 |
T |
G |
17: 66,120,459 (GRCm39) |
C181G |
probably damaging |
Het |
Pramel27 |
T |
A |
4: 143,579,451 (GRCm39) |
H345Q |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,628,688 (GRCm39) |
E3478K |
probably damaging |
Het |
Prpf4b |
T |
C |
13: 35,072,147 (GRCm39) |
|
probably benign |
Het |
Psme3 |
T |
A |
11: 101,208,435 (GRCm39) |
|
probably null |
Het |
Ptpre |
C |
A |
7: 135,269,372 (GRCm39) |
Y284* |
probably null |
Het |
Scnn1a |
A |
G |
6: 125,299,123 (GRCm39) |
I94V |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Shc2 |
T |
C |
10: 79,459,690 (GRCm39) |
D418G |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,075,389 (GRCm39) |
D661E |
probably damaging |
Het |
Slc35e2 |
T |
C |
4: 155,702,106 (GRCm39) |
F290S |
probably benign |
Het |
Sorcs1 |
A |
G |
19: 50,301,402 (GRCm39) |
|
probably null |
Het |
Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
Tmem270 |
C |
A |
5: 134,930,482 (GRCm39) |
E260* |
probably null |
Het |
Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
Trim46 |
A |
G |
3: 89,150,958 (GRCm39) |
F188S |
probably benign |
Het |
Trim7 |
T |
A |
11: 48,728,355 (GRCm39) |
M1K |
probably null |
Het |
Txnip |
A |
G |
3: 96,465,604 (GRCm39) |
E18G |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,414,633 (GRCm39) |
N2859D |
probably damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,477,647 (GRCm39) |
I255F |
probably benign |
Het |
Xkr5 |
T |
A |
8: 18,983,733 (GRCm39) |
N603I |
possibly damaging |
Het |
Zfp512 |
C |
T |
5: 31,637,570 (GRCm39) |
A497V |
probably benign |
Het |
Zfp518b |
T |
C |
5: 38,830,970 (GRCm39) |
N345S |
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 |
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'- CTCCCAGACAGCATGTGAGATC -3'
(R):5'- TCAGTGTGATGTGGAGAAGC -3'
Sequencing Primer
(F):5'- GACAGCATGTGAGATCCTCCTAG -3'
(R):5'- CAGGTGACACCACTTAGGATATG -3'
|
Posted On |
2015-09-25 |