Incidental Mutation 'R9760:Arhgef12'
| ID |
732955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef12
|
| Ensembl Gene |
ENSMUSG00000059495 |
| Gene Name |
Rho guanine nucleotide exchange factor 12 |
| Synonyms |
2310014B11Rik, LARG |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R9760 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42903318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 745
(D745E)
|
| 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: D744E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: D744E
| 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: D745E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: D745E
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.7%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
C |
16: 8,399,794 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
G |
A |
1: 171,086,334 (GRCm39) |
D709N |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,818,473 (GRCm39) |
K883E |
probably benign |
Het |
| Cfdp1 |
T |
C |
8: 112,495,415 (GRCm39) |
I268V |
probably benign |
Het |
| Cgnl1 |
G |
T |
9: 71,552,853 (GRCm39) |
S1037* |
probably null |
Het |
| Clca3b |
T |
C |
3: 144,552,610 (GRCm39) |
N142S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,659,253 (GRCm39) |
I564N |
probably damaging |
Het |
| Coq4 |
G |
T |
2: 29,678,482 (GRCm39) |
R36L |
probably benign |
Het |
| Dact3 |
G |
A |
7: 16,620,131 (GRCm39) |
S542N |
unknown |
Het |
| Dcaf1 |
A |
G |
9: 106,751,466 (GRCm39) |
D1480G |
unknown |
Het |
| Dcdc2a |
C |
T |
13: 25,389,443 (GRCm39) |
T457I |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,411,196 (GRCm39) |
V572A |
probably damaging |
Het |
| Ddx54 |
C |
T |
5: 120,761,672 (GRCm39) |
R483C |
probably benign |
Het |
| Dennd5b |
G |
A |
6: 148,969,997 (GRCm39) |
S152F |
probably benign |
Het |
| Efcab14 |
C |
T |
4: 115,616,072 (GRCm39) |
H252Y |
probably benign |
Het |
| Efhb |
A |
T |
17: 53,770,298 (GRCm39) |
F4I |
probably damaging |
Het |
| Esrrg |
A |
G |
1: 187,775,569 (GRCm39) |
D32G |
probably benign |
Het |
| Far2 |
C |
A |
6: 148,060,448 (GRCm39) |
A267E |
probably damaging |
Het |
| Fhip2b |
A |
C |
14: 70,827,621 (GRCm39) |
V158G |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,929,846 (GRCm38) |
I1992T |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,944,527 (GRCm39) |
S169G |
|
Het |
| Galnt10 |
G |
A |
11: 57,656,514 (GRCm39) |
V233I |
probably benign |
Het |
| Gbf1 |
C |
A |
19: 46,244,137 (GRCm39) |
N210K |
probably benign |
Het |
| Gbp3 |
T |
G |
3: 142,276,283 (GRCm39) |
S460A |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,806,168 (GRCm39) |
H341L |
probably benign |
Het |
| Gm5592 |
A |
T |
7: 40,939,234 (GRCm39) |
I839F |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,267,310 (GRCm39) |
D467G |
probably damaging |
Het |
| Grin3a |
A |
T |
4: 49,714,213 (GRCm39) |
M844K |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,019,020 (GRCm39) |
D368G |
probably benign |
Het |
| Herc2 |
G |
C |
7: 55,813,659 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,184,572 (GRCm39) |
Q302R |
possibly damaging |
Het |
| Ins2 |
T |
A |
7: 142,233,185 (GRCm39) |
H29L |
probably damaging |
Het |
| Ipo13 |
T |
A |
4: 117,762,778 (GRCm39) |
Y275F |
probably benign |
Het |
| Kcnj15 |
T |
A |
16: 95,096,483 (GRCm39) |
M35K |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,076,421 (GRCm39) |
V321M |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,029,375 (GRCm39) |
Y332* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,581,283 (GRCm39) |
Q237R |
probably benign |
Het |
| Micall1 |
G |
A |
15: 79,005,032 (GRCm39) |
C168Y |
unknown |
Het |
| Muc5ac |
A |
G |
7: 141,360,985 (GRCm39) |
K1432R |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,662 (GRCm39) |
S510P |
probably benign |
Het |
| Nub1 |
T |
C |
5: 24,897,965 (GRCm39) |
L117P |
possibly damaging |
Het |
| Or10al3 |
T |
C |
17: 38,012,434 (GRCm39) |
L291P |
probably damaging |
Het |
| Or5af1 |
A |
G |
11: 58,722,852 (GRCm39) |
R291G |
probably damaging |
Het |
| Or8g24 |
A |
T |
9: 38,989,271 (GRCm39) |
F257I |
possibly damaging |
Het |
| Pkdrej |
T |
C |
15: 85,705,268 (GRCm39) |
K223E |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,657,044 (GRCm39) |
Y4046* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,394,257 (GRCm39) |
N1767D |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| R3hdm2 |
G |
T |
10: 127,280,182 (GRCm39) |
M18I |
unknown |
Het |
| Rab35 |
C |
A |
5: 115,778,224 (GRCm39) |
D63E |
probably damaging |
Het |
| Ribc2 |
T |
A |
15: 85,027,568 (GRCm39) |
Y350N |
probably benign |
Het |
| Sec63 |
A |
G |
10: 42,704,944 (GRCm39) |
I733V |
probably benign |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Slc38a4 |
T |
C |
15: 96,896,332 (GRCm39) |
K512E |
probably damaging |
Het |
| Stk35 |
G |
A |
2: 129,642,605 (GRCm39) |
V49I |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,576,911 (GRCm39) |
E1055G |
probably damaging |
Het |
| Tas2r140 |
A |
G |
6: 40,469,036 (GRCm39) |
I289V |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,101 (GRCm39) |
V541A |
probably benign |
Het |
| Tll2 |
C |
T |
19: 41,119,084 (GRCm39) |
V215M |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,687,874 (GRCm39) |
N98K |
probably benign |
Het |
| Trav9n-4 |
C |
A |
14: 53,532,290 (GRCm39) |
A48E |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,880,499 (GRCm39) |
S476T |
|
Het |
| Vmn1r192 |
A |
G |
13: 22,372,010 (GRCm39) |
F70S |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,680,026 (GRCm39) |
V76A |
probably damaging |
Het |
| Zfp229 |
A |
T |
17: 21,965,275 (GRCm39) |
T502S |
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 |
|
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 |
|
|
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'- TCTGGTAAATCTCCATCTATACAGCC -3'
(R):5'- TGAATGCCCAGGTGAGAAGC -3'
Sequencing Primer
(F):5'- TCCATCTATACAGCCAACAACAATTG -3'
(R):5'- CCCAGGTGAGAAGCCAGAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation