Incidental Mutation 'R1722:Arhgef12'
ID |
191557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef12
|
Ensembl Gene |
ENSMUSG00000059495 |
Gene Name |
Rho guanine nucleotide exchange factor 12 |
Synonyms |
2310014B11Rik, LARG |
MMRRC Submission |
039754-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
R1722 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 42932013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 106
(*106W)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072767]
[ENSMUST00000165665]
|
AlphaFold |
Q8R4H2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072767
AA Change: D158G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072547 Gene: ENSMUSG00000059495 AA Change: D158G
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: D158G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126598 Gene: ENSMUSG00000059495 AA Change: D158G
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 null
Transcript: ENSMUST00000213566
AA Change: *106W
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215898
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217502
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
A |
T |
2: 103,824,273 (GRCm39) |
|
probably null |
Het |
Adss1 |
A |
T |
12: 112,602,915 (GRCm39) |
I346F |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,988,019 (GRCm39) |
L3101H |
probably damaging |
Het |
Aldh3b3 |
A |
G |
19: 4,014,871 (GRCm39) |
I123V |
possibly damaging |
Het |
Angptl1 |
C |
T |
1: 156,684,655 (GRCm39) |
P275S |
possibly damaging |
Het |
Apoa5 |
C |
T |
9: 46,181,847 (GRCm39) |
Q308* |
probably null |
Het |
Atp2c1 |
A |
G |
9: 105,316,599 (GRCm39) |
Y485H |
probably benign |
Het |
Atp6v1b1 |
C |
T |
6: 83,720,074 (GRCm39) |
T3I |
possibly damaging |
Het |
Btbd7 |
A |
T |
12: 102,778,913 (GRCm39) |
I451N |
possibly damaging |
Het |
Clasp1 |
T |
G |
1: 118,518,194 (GRCm39) |
L1080R |
probably damaging |
Het |
Clec4f |
A |
G |
6: 83,623,915 (GRCm39) |
V408A |
probably benign |
Het |
Clint1 |
T |
A |
11: 45,797,233 (GRCm39) |
M438K |
possibly damaging |
Het |
Cuzd1 |
A |
T |
7: 130,913,373 (GRCm39) |
Y415N |
probably damaging |
Het |
Ddias |
A |
G |
7: 92,509,250 (GRCm39) |
F222L |
possibly damaging |
Het |
Efcab7 |
A |
T |
4: 99,757,815 (GRCm39) |
T321S |
probably benign |
Het |
Elp3 |
A |
T |
14: 65,788,846 (GRCm39) |
D393E |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,181,124 (GRCm39) |
|
probably null |
Het |
Fcgr3 |
T |
C |
1: 170,881,688 (GRCm39) |
R146G |
possibly damaging |
Het |
Fkrp |
G |
A |
7: 16,544,719 (GRCm39) |
A381V |
probably benign |
Het |
Gatad2b |
T |
G |
3: 90,262,986 (GRCm39) |
I476S |
probably damaging |
Het |
Gm1527 |
C |
T |
3: 28,975,783 (GRCm39) |
H557Y |
probably benign |
Het |
Gm2431 |
A |
T |
7: 141,811,599 (GRCm39) |
C102S |
unknown |
Het |
Hoxd13 |
A |
G |
2: 74,500,389 (GRCm39) |
N310S |
probably benign |
Het |
Il9 |
T |
A |
13: 56,627,208 (GRCm39) |
T135S |
probably benign |
Het |
Ints4 |
A |
C |
7: 97,162,786 (GRCm39) |
N476T |
probably benign |
Het |
Kcnq4 |
A |
C |
4: 120,559,624 (GRCm39) |
D525E |
probably benign |
Het |
Kncn |
A |
T |
4: 115,743,096 (GRCm39) |
Y57F |
probably damaging |
Het |
Lpl |
TGG |
TG |
8: 69,349,254 (GRCm39) |
|
probably null |
Het |
Lrrfip2 |
A |
G |
9: 111,028,829 (GRCm39) |
T351A |
probably damaging |
Het |
Madd |
T |
C |
2: 90,997,982 (GRCm39) |
E682G |
probably benign |
Het |
Marchf7 |
A |
C |
2: 60,064,526 (GRCm39) |
R267S |
probably damaging |
Het |
Mmp16 |
T |
A |
4: 18,051,767 (GRCm39) |
L252Q |
probably damaging |
Het |
Mri1 |
A |
T |
8: 84,980,554 (GRCm39) |
V296D |
possibly damaging |
Het |
Myo3a |
A |
G |
2: 22,404,638 (GRCm39) |
T665A |
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,964,225 (GRCm39) |
V758A |
probably benign |
Het |
Nbea |
T |
C |
3: 55,573,116 (GRCm39) |
D2489G |
probably damaging |
Het |
Neb |
T |
C |
2: 52,146,757 (GRCm39) |
T2836A |
probably damaging |
Het |
Nedd4l |
T |
A |
18: 65,291,010 (GRCm39) |
V203E |
probably damaging |
Het |
Nkpd1 |
C |
A |
7: 19,257,846 (GRCm39) |
Q392K |
possibly damaging |
Het |
Nploc4 |
G |
T |
11: 120,273,395 (GRCm39) |
A576E |
probably benign |
Het |
Nxph1 |
T |
A |
6: 9,247,516 (GRCm39) |
N162K |
probably damaging |
Het |
Or3a1 |
T |
C |
11: 74,225,271 (GRCm39) |
Y262C |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,682,805 (GRCm39) |
T315S |
probably benign |
Het |
Pabpc2 |
T |
G |
18: 39,908,169 (GRCm39) |
I478S |
probably benign |
Het |
Pde7b |
G |
T |
10: 20,311,990 (GRCm39) |
H190Q |
probably damaging |
Het |
Plekha2 |
A |
T |
8: 25,532,976 (GRCm39) |
S332T |
probably benign |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rasl11a |
A |
T |
5: 146,782,052 (GRCm39) |
H9L |
probably benign |
Het |
Rer1 |
A |
T |
4: 155,159,458 (GRCm39) |
F177I |
probably damaging |
Het |
Rinl |
T |
C |
7: 28,491,669 (GRCm39) |
L74P |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,991,655 (GRCm39) |
V78A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,703,508 (GRCm39) |
|
probably null |
Het |
Tenm2 |
A |
C |
11: 35,898,930 (GRCm39) |
Y2743D |
probably damaging |
Het |
Tmem101 |
T |
C |
11: 102,045,519 (GRCm39) |
Y110C |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,295,148 (GRCm39) |
N658S |
probably benign |
Het |
Ucp1 |
A |
T |
8: 84,017,317 (GRCm39) |
T36S |
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,258,067 (GRCm39) |
I382T |
probably damaging |
Het |
Zfp142 |
C |
T |
1: 74,608,935 (GRCm39) |
R1620Q |
probably damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
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 |
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'- ATGCCTGAGCATCTACTACAACGC -3'
(R):5'- GCTAGAGTGAGGTGAGCATTTGGAC -3'
Sequencing Primer
(F):5'- ACTACAACGCTCTGATCTTACC -3'
(R):5'- aggcaggagcatcacaag -3'
|
Posted On |
2014-05-14 |