Incidental Mutation 'R2215:Arhgef12'
| ID |
241096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef12
|
| Ensembl Gene |
ENSMUSG00000059495 |
| Gene Name |
Rho guanine nucleotide exchange factor 12 |
| Synonyms |
2310014B11Rik, LARG |
| MMRRC Submission |
040217-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R2215 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
42875138-43017069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42917167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 391
(H391N)
|
| 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: H390N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: H390N
| 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: H391N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: H391N
| 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 |
|
| Meta Mutation Damage Score |
0.5356 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (68/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,254,619 (GRCm39) |
S1899T |
probably damaging |
Het |
| Accs |
G |
T |
2: 93,672,243 (GRCm39) |
N208K |
probably benign |
Het |
| Actn4 |
C |
A |
7: 28,618,178 (GRCm39) |
V22L |
possibly damaging |
Het |
| Adam21 |
A |
G |
12: 81,607,064 (GRCm39) |
S233P |
probably damaging |
Het |
| Adrm1b |
G |
A |
3: 92,335,730 (GRCm39) |
A324V |
probably damaging |
Het |
| Agmat |
C |
T |
4: 141,476,899 (GRCm39) |
R102C |
probably benign |
Het |
| Akap8l |
T |
C |
17: 32,540,569 (GRCm39) |
E608G |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,834,519 (GRCm39) |
I788V |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,187,529 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Baz1a |
G |
A |
12: 55,022,154 (GRCm39) |
R43* |
probably null |
Het |
| Bcas3 |
T |
C |
11: 85,692,769 (GRCm39) |
S862P |
probably damaging |
Het |
| Blm |
A |
T |
7: 80,149,595 (GRCm39) |
H671Q |
possibly damaging |
Het |
| Bmp8a |
C |
T |
4: 123,218,911 (GRCm39) |
V166I |
probably benign |
Het |
| Cep120 |
G |
T |
18: 53,860,707 (GRCm39) |
P241Q |
probably damaging |
Het |
| Col14a1 |
G |
A |
15: 55,244,238 (GRCm39) |
G437E |
unknown |
Het |
| Cyp2a5 |
T |
C |
7: 26,539,900 (GRCm39) |
L3S |
probably damaging |
Het |
| D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,405,917 (GRCm39) |
|
probably null |
Het |
| Ddx20 |
A |
T |
3: 105,587,656 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,177,476 (GRCm39) |
S185G |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,841,421 (GRCm39) |
|
probably benign |
Het |
| Fam117b |
T |
A |
1: 60,008,219 (GRCm39) |
I351K |
probably damaging |
Het |
| Fbxo31 |
T |
C |
8: 122,293,050 (GRCm39) |
I112V |
probably benign |
Het |
| Galntl5 |
A |
T |
5: 25,403,476 (GRCm39) |
N149I |
probably damaging |
Het |
| Gja8 |
A |
T |
3: 96,827,218 (GRCm39) |
F148Y |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,993,252 (GRCm39) |
L531Q |
possibly damaging |
Het |
| Gprin1 |
G |
A |
13: 54,888,046 (GRCm39) |
T76M |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,546,787 (GRCm39) |
C113* |
probably null |
Het |
| Igf1r |
T |
A |
7: 67,814,982 (GRCm39) |
D294E |
probably benign |
Het |
| Kdm6b |
G |
A |
11: 69,295,870 (GRCm39) |
P799L |
unknown |
Het |
| Lat |
A |
T |
7: 125,967,137 (GRCm39) |
V139E |
probably damaging |
Het |
| Lrrc34 |
G |
A |
3: 30,697,678 (GRCm39) |
R51C |
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,322 (GRCm39) |
S978P |
probably benign |
Het |
| Masp1 |
T |
A |
16: 23,271,271 (GRCm39) |
D659V |
possibly damaging |
Het |
| Mcam |
A |
T |
9: 44,051,250 (GRCm39) |
R415* |
probably null |
Het |
| Mtmr10 |
A |
G |
7: 63,987,403 (GRCm39) |
T648A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,082,563 (GRCm39) |
W1378R |
probably benign |
Het |
| Nipsnap2 |
A |
G |
5: 129,816,649 (GRCm39) |
E64G |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,270,381 (GRCm39) |
M81V |
probably benign |
Het |
| Or52n4b |
T |
C |
7: 108,144,095 (GRCm39) |
L119P |
probably damaging |
Het |
| Or6c3 |
A |
T |
10: 129,309,289 (GRCm39) |
I243F |
probably damaging |
Het |
| Or9s27 |
G |
A |
1: 92,516,708 (GRCm39) |
V219I |
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,127 (GRCm39) |
S602A |
probably damaging |
Het |
| Peg10 |
A |
T |
6: 4,756,918 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
A |
T |
3: 28,132,542 (GRCm39) |
I577F |
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,267,811 (GRCm39) |
I720N |
probably damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,182,005 (GRCm39) |
|
probably null |
Het |
| Retreg3 |
G |
T |
11: 101,010,459 (GRCm39) |
Y49* |
probably null |
Het |
| Rrp36 |
T |
C |
17: 46,983,746 (GRCm39) |
E22G |
possibly damaging |
Het |
| Sec14l2 |
C |
A |
11: 4,059,169 (GRCm39) |
A167S |
probably damaging |
Het |
| Sema5b |
A |
G |
16: 35,480,585 (GRCm39) |
T751A |
probably damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,066,907 (GRCm39) |
|
probably benign |
Het |
| Smox |
T |
C |
2: 131,362,190 (GRCm39) |
|
probably null |
Het |
| Spats2l |
A |
T |
1: 57,985,575 (GRCm39) |
T543S |
possibly damaging |
Het |
| Sppl2a |
G |
T |
2: 126,769,754 (GRCm39) |
T34K |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,138,602 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,192,362 (GRCm39) |
I691F |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,923,114 (GRCm39) |
Y2566H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,570,853 (GRCm39) |
E26680G |
probably damaging |
Het |
| Txlna |
T |
C |
4: 129,533,111 (GRCm39) |
E139G |
possibly damaging |
Het |
| Ubap2 |
T |
C |
4: 41,196,483 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,809,661 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
C |
1: 74,483,685 (GRCm39) |
F844V |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,429,150 (GRCm39) |
D204G |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,684 (GRCm39) |
I291T |
probably benign |
Het |
| Zfp229 |
T |
G |
17: 21,965,258 (GRCm39) |
V496G |
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 |
|
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'- CCGAGTCTCCTTGGAGTTTG -3'
(R):5'- CAATGGGAAATTCTGCTGGC -3'
Sequencing Primer
(F):5'- GTCTGCTTATACAGGTCTGAATAGAG -3'
(R):5'- CTGTGTTCAGTTGGCCTCACAAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation