Incidental Mutation 'R4912:Arhgef12'
| ID |
379637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef12
|
| Ensembl Gene |
ENSMUSG00000059495 |
| Gene Name |
Rho guanine nucleotide exchange factor 12 |
| Synonyms |
2310014B11Rik, LARG |
| MMRRC Submission |
042514-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R4912 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 42904361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 706
(R706*)
|
| 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: R705*
|
| SMART Domains |
Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: R705*
| 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: R706*
|
| SMART Domains |
Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: R706*
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.9%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,505 (GRCm39) |
D52G |
possibly damaging |
Het |
| Acaa1a |
C |
A |
9: 119,171,827 (GRCm39) |
R102S |
probably damaging |
Het |
| Best3 |
A |
G |
10: 116,844,886 (GRCm39) |
Y347C |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,872,900 (GRCm39) |
D386E |
probably damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,144 (GRCm39) |
T66S |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,760,858 (GRCm39) |
D2201V |
possibly damaging |
Het |
| Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
| Dffb |
T |
A |
4: 154,049,864 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
A |
C |
14: 87,244,635 (GRCm39) |
C217W |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,927,924 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
T |
C |
1: 44,196,217 (GRCm39) |
I70T |
probably damaging |
Het |
| Fryl |
AGTGTGT |
AGTGT |
5: 73,226,125 (GRCm39) |
|
probably null |
Het |
| Fsd1 |
C |
T |
17: 56,298,241 (GRCm39) |
P189S |
possibly damaging |
Het |
| Gm42669 |
A |
G |
5: 107,656,683 (GRCm39) |
K982R |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,533,445 (GRCm39) |
I373T |
possibly damaging |
Het |
| Gm7356 |
A |
G |
17: 14,221,498 (GRCm39) |
L177P |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,767,153 (GRCm39) |
D93N |
probably damaging |
Het |
| Hbq1b |
T |
A |
11: 32,237,014 (GRCm39) |
M1K |
probably null |
Het |
| Hps3 |
C |
A |
3: 20,068,337 (GRCm39) |
L572F |
probably damaging |
Het |
| Ighj2 |
T |
A |
12: 113,393,100 (GRCm39) |
|
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,945,207 (GRCm39) |
M490T |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,796,597 (GRCm39) |
K404* |
probably null |
Het |
| Lgr4 |
A |
T |
2: 109,836,847 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
G |
T |
7: 27,005,541 (GRCm39) |
C1533* |
probably null |
Het |
| Mapre2 |
A |
G |
18: 23,965,990 (GRCm39) |
N25S |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,559,087 (GRCm39) |
I43K |
probably benign |
Het |
| Mon1b |
T |
A |
8: 114,368,585 (GRCm39) |
Y495* |
probably null |
Het |
| Mrfap1 |
A |
G |
5: 36,954,089 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
A |
G |
4: 155,925,361 (GRCm39) |
|
probably null |
Het |
| Myoz1 |
A |
T |
14: 20,699,606 (GRCm39) |
L244Q |
probably damaging |
Het |
| Ndfip2 |
C |
T |
14: 105,496,120 (GRCm39) |
R5W |
probably benign |
Het |
| Nek11 |
T |
C |
9: 105,164,857 (GRCm39) |
D423G |
probably benign |
Het |
| Nin |
A |
T |
12: 70,090,837 (GRCm39) |
D859E |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 90,994,511 (GRCm39) |
A1729V |
probably benign |
Het |
| Olfm3 |
A |
G |
3: 114,895,589 (GRCm39) |
E157G |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,856,166 (GRCm39) |
H244L |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,429 (GRCm39) |
S800P |
probably benign |
Het |
| Reln |
A |
G |
5: 22,130,191 (GRCm39) |
S2707P |
probably benign |
Het |
| Resf1 |
C |
G |
6: 149,230,887 (GRCm39) |
S1311C |
probably damaging |
Het |
| Rexo4 |
G |
A |
2: 26,852,404 (GRCm39) |
T200M |
possibly damaging |
Het |
| Saxo2 |
T |
A |
7: 82,283,743 (GRCm39) |
I372L |
probably benign |
Het |
| Scgb2b2 |
T |
A |
7: 31,003,056 (GRCm39) |
D50E |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,443,452 (GRCm39) |
L914P |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,199,413 (GRCm39) |
D656V |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,300,171 (GRCm39) |
D1192G |
probably damaging |
Het |
| Tdrd6 |
A |
C |
17: 43,935,218 (GRCm39) |
D1943E |
probably benign |
Het |
| Tmem163 |
G |
A |
1: 127,419,362 (GRCm39) |
T281M |
probably damaging |
Het |
| Tmod3 |
A |
G |
9: 75,439,730 (GRCm39) |
V35A |
probably damaging |
Het |
| Ttc39c |
A |
T |
18: 12,867,951 (GRCm39) |
Q448L |
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,935,455 (GRCm39) |
S937T |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,481,304 (GRCm39) |
D1711V |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Utp20 |
G |
T |
10: 88,607,822 (GRCm39) |
Q1596K |
probably benign |
Het |
| Vmn1r28 |
A |
T |
6: 58,242,525 (GRCm39) |
I123F |
possibly damaging |
Het |
| Vmn1r73 |
T |
A |
7: 11,490,596 (GRCm39) |
V138E |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,363 (GRCm39) |
D347G |
probably damaging |
Het |
| Vmn2r3 |
T |
G |
3: 64,166,618 (GRCm39) |
T838P |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,082,896 (GRCm39) |
D1268G |
probably damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,739 (GRCm39) |
H443Q |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,079,663 (GRCm39) |
V374A |
probably damaging |
Het |
| Zfp831 |
G |
T |
2: 174,486,417 (GRCm39) |
G364V |
probably damaging |
Het |
| Zfp94 |
A |
G |
7: 24,003,166 (GRCm39) |
V86A |
probably benign |
Het |
| Zkscan16 |
A |
C |
4: 58,946,506 (GRCm39) |
N127T |
possibly 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 |
|
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'- TTCTGCCACCCTAAAACAGTAGAG -3'
(R):5'- CTAGCCTATTGAAATAGAATGTGGC -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCAGGAGG -3'
(R):5'- GGCTATGATTTAGGAAAAAGTTTTGG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation