Incidental Mutation 'R5176:Arhgef12'
| ID |
399297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef12
|
| Ensembl Gene |
ENSMUSG00000059495 |
| Gene Name |
Rho guanine nucleotide exchange factor 12 |
| Synonyms |
2310014B11Rik, LARG |
| MMRRC Submission |
042756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R5176 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42931982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 168
(H168Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072767]
[ENSMUST00000165665]
|
| AlphaFold |
Q8R4H2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072767
AA Change: H168Q
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: H168Q
| 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: H168Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: H168Q
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217502
|
| Meta Mutation Damage Score |
0.0606 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (69/70) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
C |
A |
10: 79,834,123 (GRCm39) |
H116Q |
probably benign |
Het |
| Akap12 |
G |
T |
10: 4,303,947 (GRCm39) |
E252D |
probably benign |
Het |
| Apobr |
A |
G |
7: 126,184,188 (GRCm39) |
D2G |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,357 (GRCm39) |
|
probably null |
Het |
| Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,525,143 (GRCm39) |
Y1679N |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,951,296 (GRCm39) |
A42T |
probably benign |
Het |
| Cds1 |
G |
T |
5: 101,929,286 (GRCm39) |
D55Y |
possibly damaging |
Het |
| Cep135 |
C |
A |
5: 76,784,873 (GRCm39) |
D989E |
probably benign |
Het |
| Cpsf6 |
C |
A |
10: 117,197,189 (GRCm39) |
|
probably benign |
Het |
| Ctif |
C |
T |
18: 75,770,290 (GRCm39) |
V32M |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dao |
T |
C |
5: 114,158,070 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
A |
9: 86,403,868 (GRCm39) |
N1689K |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,536,931 (GRCm39) |
Y14C |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,777,290 (GRCm39) |
R365C |
probably damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,770,598 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,359,613 (GRCm39) |
N51S |
probably damaging |
Het |
| Fkbp15 |
G |
T |
4: 62,230,560 (GRCm39) |
L718I |
possibly damaging |
Het |
| Gabbr2 |
C |
A |
4: 46,681,208 (GRCm39) |
V118F |
probably damaging |
Het |
| Gm13991 |
T |
A |
2: 116,358,508 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M9 |
T |
C |
17: 36,952,523 (GRCm39) |
I174M |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,421 (GRCm39) |
M364V |
probably benign |
Het |
| Insr |
T |
A |
8: 3,208,742 (GRCm39) |
M1240L |
probably benign |
Het |
| Ints15 |
G |
T |
5: 143,300,830 (GRCm39) |
S7* |
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Mad2l1bp |
T |
A |
17: 46,463,738 (GRCm39) |
E95D |
probably benign |
Het |
| Marchf9 |
T |
C |
10: 126,895,319 (GRCm39) |
D102G |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,776,374 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h4 |
T |
A |
10: 89,334,117 (GRCm39) |
Y91F |
probably benign |
Het |
| Nr5a2 |
A |
T |
1: 136,876,540 (GRCm39) |
M1K |
probably null |
Het |
| Oprd1 |
T |
C |
4: 131,841,104 (GRCm39) |
T285A |
probably benign |
Het |
| Optc |
T |
C |
1: 133,829,822 (GRCm39) |
N196S |
probably benign |
Het |
| Or51f5 |
T |
A |
7: 102,424,513 (GRCm39) |
S261T |
probably damaging |
Het |
| Or5g29 |
A |
C |
2: 85,421,779 (GRCm39) |
K298N |
possibly damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,656 (GRCm39) |
Y132F |
probably damaging |
Het |
| Panx2 |
G |
T |
15: 88,944,431 (GRCm39) |
R52L |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,389 (GRCm39) |
F211L |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 56,006,995 (GRCm39) |
T41S |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,111,880 (GRCm39) |
L37S |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,393,864 (GRCm39) |
T870A |
probably damaging |
Het |
| Rabep2 |
C |
A |
7: 126,033,465 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
A |
C |
5: 3,645,444 (GRCm39) |
V80G |
probably damaging |
Het |
| Rhou |
G |
T |
8: 124,380,848 (GRCm39) |
C55F |
possibly damaging |
Het |
| Rnaseh2c |
A |
G |
19: 5,652,070 (GRCm39) |
D45G |
probably benign |
Het |
| Rusc1 |
A |
G |
3: 88,996,389 (GRCm39) |
S109P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,588,012 (GRCm39) |
D2643G |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,458,358 (GRCm39) |
M244K |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,810,703 (GRCm39) |
E471G |
probably benign |
Het |
| Sipa1 |
A |
G |
19: 5,709,406 (GRCm39) |
S310P |
probably damaging |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,203,587 (GRCm39) |
E1680G |
unknown |
Het |
| Steap3 |
C |
T |
1: 120,171,497 (GRCm39) |
|
probably null |
Het |
| Tmeff2 |
T |
A |
1: 51,110,700 (GRCm39) |
C171* |
probably null |
Het |
| Tmem138 |
A |
T |
19: 10,552,634 (GRCm39) |
M33K |
probably benign |
Het |
| Trappc11 |
C |
A |
8: 47,963,998 (GRCm39) |
V601L |
possibly damaging |
Het |
| Ttll4 |
C |
A |
1: 74,718,445 (GRCm39) |
H99N |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,143,022 (GRCm39) |
K168* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,106,913 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
A |
G |
11: 23,245,977 (GRCm39) |
D1029G |
probably damaging |
Het |
| Zfp719 |
G |
T |
7: 43,240,549 (GRCm39) |
K712N |
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 |
|
|
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'- CTGTGGATTGGACACTGTTTTATAC -3'
(R):5'- GGTACAGTCCTCACTACCACAG -3'
Sequencing Primer
(F):5'- GGACACTGTTTTATACATGACAGG -3'
(R):5'- GTCCTCACTACCACAGATAAAGAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation