Incidental Mutation 'R9733:Arhgef12'
ID |
731557 |
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: 0.931)
|
Stock # |
R9733 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 42901294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 836
(L836*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072767]
[ENSMUST00000165665]
|
AlphaFold |
Q8R4H2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000072767
AA Change: L835*
|
SMART Domains |
Protein: ENSMUSP00000072547 Gene: ENSMUSG00000059495 AA Change: L835*
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 null
Transcript: ENSMUST00000165665
AA Change: L836*
|
SMART Domains |
Protein: ENSMUSP00000126598 Gene: ENSMUSG00000059495 AA Change: L836*
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: 99.3%
- 20x: 98.3%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610042L04Rik |
C |
T |
14: 15,712,825 (GRCm39) |
|
probably benign |
Het |
4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
Adam34l |
T |
C |
8: 44,079,186 (GRCm39) |
N346S |
possibly damaging |
Het |
Alpi |
C |
T |
1: 87,028,516 (GRCm39) |
A125T |
probably benign |
Het |
Alppl2 |
T |
A |
1: 87,014,957 (GRCm39) |
H468L |
probably damaging |
Het |
Arv1 |
T |
C |
8: 125,458,658 (GRCm39) |
Y261H |
probably damaging |
Het |
Atf6 |
C |
T |
1: 170,662,402 (GRCm39) |
S286N |
probably benign |
Het |
Atl3 |
G |
A |
19: 7,509,705 (GRCm39) |
G478R |
probably damaging |
Het |
Avil |
C |
T |
10: 126,843,711 (GRCm39) |
R184C |
probably damaging |
Het |
Bcl6b |
A |
G |
11: 70,119,323 (GRCm39) |
I131T |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,102,732 (GRCm39) |
M1437K |
|
Het |
Catsper3 |
T |
C |
13: 55,946,752 (GRCm39) |
S150P |
probably damaging |
Het |
Cd7 |
A |
G |
11: 120,928,637 (GRCm39) |
S132P |
probably benign |
Het |
Cfh |
T |
C |
1: 140,016,533 (GRCm39) |
D1142G |
probably damaging |
Het |
Clca4b |
T |
G |
3: 144,621,272 (GRCm39) |
K601Q |
probably benign |
Het |
Cp |
A |
G |
3: 20,033,126 (GRCm39) |
H651R |
probably damaging |
Het |
Cyp2s1 |
T |
A |
7: 25,507,529 (GRCm39) |
T307S |
probably damaging |
Het |
Dcaf11 |
A |
G |
14: 55,803,170 (GRCm39) |
D328G |
probably damaging |
Het |
Eapp |
A |
T |
12: 54,739,741 (GRCm39) |
S25R |
probably damaging |
Het |
Ebag9 |
T |
A |
15: 44,491,033 (GRCm39) |
|
probably null |
Het |
Exog |
G |
A |
9: 119,291,586 (GRCm39) |
E288K |
possibly damaging |
Het |
Fads2 |
A |
T |
19: 10,047,940 (GRCm39) |
Y265N |
probably damaging |
Het |
Fam234b |
T |
A |
6: 135,194,008 (GRCm39) |
S220R |
possibly damaging |
Het |
Fcgbp |
T |
A |
7: 27,803,012 (GRCm39) |
C1539S |
probably damaging |
Het |
Fcsk |
T |
C |
8: 111,615,563 (GRCm39) |
T589A |
probably benign |
Het |
Fv1 |
C |
T |
4: 147,954,621 (GRCm39) |
R396W |
probably damaging |
Het |
Fv1 |
T |
C |
4: 147,954,654 (GRCm39) |
F407L |
probably benign |
Het |
Glp2r |
T |
C |
11: 67,648,367 (GRCm39) |
T112A |
probably benign |
Het |
Hydin |
T |
C |
8: 111,262,011 (GRCm39) |
I2704T |
probably benign |
Het |
Ighm |
T |
A |
12: 113,386,097 (GRCm39) |
E84D |
probably benign |
Het |
Ikzf5 |
A |
G |
7: 130,994,012 (GRCm39) |
V205A |
probably benign |
Het |
Kcnt1 |
G |
T |
2: 25,797,351 (GRCm39) |
V844L |
probably benign |
Het |
Kif2a |
A |
C |
13: 107,106,304 (GRCm39) |
S528R |
probably damaging |
Het |
Klhl29 |
G |
A |
12: 5,190,641 (GRCm39) |
T118M |
probably damaging |
Het |
Krt4 |
C |
A |
15: 101,827,564 (GRCm39) |
G492C |
unknown |
Het |
Lama1 |
T |
A |
17: 68,116,940 (GRCm39) |
I2441N |
|
Het |
Lin7a |
T |
C |
10: 107,247,905 (GRCm39) |
V192A |
possibly damaging |
Het |
Marchf8 |
T |
A |
6: 116,378,990 (GRCm39) |
V308D |
probably damaging |
Het |
Mgat5b |
T |
C |
11: 116,838,074 (GRCm39) |
S238P |
possibly damaging |
Het |
Mrps25 |
A |
G |
6: 92,155,715 (GRCm39) |
S73P |
probably damaging |
Het |
Muc6 |
G |
T |
7: 141,216,310 (GRCm39) |
P2788T |
unknown |
Het |
Ncf1 |
T |
C |
5: 134,250,899 (GRCm39) |
T347A |
probably benign |
Het |
Ndufaf4 |
T |
C |
4: 24,903,177 (GRCm39) |
M122T |
probably benign |
Het |
Nfil3 |
C |
T |
13: 53,121,591 (GRCm39) |
A438T |
probably damaging |
Het |
Noc2l |
T |
G |
4: 156,328,022 (GRCm39) |
I504S |
probably damaging |
Het |
Nphs1 |
T |
C |
7: 30,166,955 (GRCm39) |
C735R |
probably damaging |
Het |
Or10g6 |
A |
T |
9: 39,934,171 (GRCm39) |
S161C |
probably benign |
Het |
Or2y10 |
T |
C |
11: 49,454,961 (GRCm39) |
L71P |
probably damaging |
Het |
Or5d38 |
C |
A |
2: 87,955,000 (GRCm39) |
V110L |
probably damaging |
Het |
Or6b9 |
A |
C |
7: 106,555,846 (GRCm39) |
L99R |
possibly damaging |
Het |
Pcdhac1 |
A |
G |
18: 37,225,506 (GRCm39) |
H773R |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,237,314 (GRCm39) |
V1324A |
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,158,034 (GRCm39) |
Y568C |
probably damaging |
Het |
Pdlim1 |
A |
T |
19: 40,219,040 (GRCm39) |
M197K |
probably damaging |
Het |
Plekho1 |
C |
T |
3: 95,903,091 (GRCm39) |
G7S |
probably benign |
Het |
Pramel17 |
A |
G |
4: 101,692,965 (GRCm39) |
V345A |
possibly damaging |
Het |
Prl7d1 |
A |
C |
13: 27,898,339 (GRCm39) |
S57A |
probably benign |
Het |
Prpf3 |
A |
G |
3: 95,741,512 (GRCm39) |
V548A |
possibly damaging |
Het |
Prss56 |
C |
T |
1: 87,111,219 (GRCm39) |
P2L |
possibly damaging |
Het |
Ric1 |
A |
G |
19: 29,580,030 (GRCm39) |
D1277G |
possibly damaging |
Het |
Rnf19b |
T |
A |
4: 128,977,812 (GRCm39) |
D676E |
probably damaging |
Het |
Rph3a |
T |
A |
5: 121,100,521 (GRCm39) |
T126S |
probably benign |
Het |
Sh3gl3 |
T |
C |
7: 81,917,562 (GRCm39) |
|
probably null |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Slc35f2 |
T |
C |
9: 53,708,385 (GRCm39) |
V126A |
probably benign |
Het |
Snrnp200 |
A |
T |
2: 127,068,240 (GRCm39) |
Q860L |
probably damaging |
Het |
Srbd1 |
T |
C |
17: 86,422,711 (GRCm39) |
N435S |
probably damaging |
Het |
Tab2 |
A |
G |
10: 7,795,214 (GRCm39) |
S349P |
possibly damaging |
Het |
Tie1 |
A |
T |
4: 118,330,183 (GRCm39) |
W1040R |
probably null |
Het |
Tnni3k |
A |
T |
3: 154,562,244 (GRCm39) |
Y678N |
probably damaging |
Het |
Trav12-3 |
T |
C |
14: 53,859,474 (GRCm39) |
V40A |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,576,379 (GRCm39) |
S24838L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,725,660 (GRCm39) |
W6158R |
unknown |
Het |
Vegfa |
T |
C |
17: 46,335,401 (GRCm39) |
S298G |
probably damaging |
Het |
Zer1 |
T |
C |
2: 29,997,643 (GRCm39) |
K421R |
probably benign |
Het |
Zfp959 |
C |
A |
17: 56,204,866 (GRCm39) |
T301N |
probably benign |
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 |
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'- AGCCCATATGTATATAAAAGGCCAC -3'
(R):5'- CCCATGGAATGAGTCTAAATAAAGC -3'
Sequencing Primer
(F):5'- GGCCACTTGTATACAAAAAGTAAGAC -3'
(R):5'- AAAGCAACATTCTGTACCTCCTTTTC -3'
|
Posted On |
2022-11-14 |