Incidental Mutation 'R7707:Arhgef1'
ID |
594343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef1
|
Ensembl Gene |
ENSMUSG00000040940 |
Gene Name |
Rho guanine nucleotide exchange factor 1 |
Synonyms |
Lbcl2, Lsc |
MMRRC Submission |
067893-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.389)
|
Stock # |
R7707 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
24602337-24626019 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24616306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 317
(D317N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047873]
[ENSMUST00000098683]
[ENSMUST00000117419]
[ENSMUST00000117796]
[ENSMUST00000132751]
[ENSMUST00000151121]
[ENSMUST00000205295]
[ENSMUST00000206011]
[ENSMUST00000206508]
[ENSMUST00000206906]
|
AlphaFold |
Q61210 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047873
AA Change: D318N
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000046469 Gene: ENSMUSG00000040940 AA Change: D318N
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:RGS-like
|
40 |
230 |
1.3e-72 |
PFAM |
low complexity region
|
380 |
400 |
N/A |
INTRINSIC |
RhoGEF
|
419 |
603 |
1.87e-63 |
SMART |
PH
|
647 |
761 |
4.68e-5 |
SMART |
low complexity region
|
845 |
864 |
N/A |
INTRINSIC |
coiled coil region
|
867 |
890 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098683
AA Change: D317N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096280 Gene: ENSMUSG00000040940 AA Change: D317N
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:RGS-like
|
40 |
230 |
2.2e-78 |
PFAM |
PDB:3ODW|B
|
238 |
384 |
2e-57 |
PDB |
low complexity region
|
396 |
412 |
N/A |
INTRINSIC |
low complexity region
|
439 |
459 |
N/A |
INTRINSIC |
RhoGEF
|
478 |
662 |
1.87e-63 |
SMART |
PH
|
706 |
820 |
4.68e-5 |
SMART |
low complexity region
|
904 |
923 |
N/A |
INTRINSIC |
coiled coil region
|
926 |
949 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117419
AA Change: D318N
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113366 Gene: ENSMUSG00000040940 AA Change: D318N
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:RGS-like
|
40 |
230 |
1.3e-72 |
PFAM |
low complexity region
|
380 |
400 |
N/A |
INTRINSIC |
RhoGEF
|
419 |
603 |
1.87e-63 |
SMART |
PH
|
647 |
761 |
4.68e-5 |
SMART |
low complexity region
|
845 |
864 |
N/A |
INTRINSIC |
coiled coil region
|
867 |
890 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117796
AA Change: D318N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113771 Gene: ENSMUSG00000040940 AA Change: D318N
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:RGS-like
|
40 |
230 |
7.3e-73 |
PFAM |
low complexity region
|
393 |
409 |
N/A |
INTRINSIC |
low complexity region
|
436 |
456 |
N/A |
INTRINSIC |
RhoGEF
|
475 |
659 |
1.87e-63 |
SMART |
PH
|
703 |
817 |
4.68e-5 |
SMART |
low complexity region
|
901 |
920 |
N/A |
INTRINSIC |
coiled coil region
|
923 |
946 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000132751
|
SMART Domains |
Protein: ENSMUSP00000117008 Gene: ENSMUSG00000040940
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
70 |
89 |
N/A |
INTRINSIC |
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
low complexity region
|
140 |
160 |
N/A |
INTRINSIC |
RhoGEF
|
179 |
363 |
1.87e-63 |
SMART |
PH
|
407 |
521 |
4.68e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151121
|
SMART Domains |
Protein: ENSMUSP00000114388 Gene: ENSMUSG00000040940
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
Pfam:RGS-like
|
40 |
101 |
5.3e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205295
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206011
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206508
AA Change: D317N
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206906
|
Meta Mutation Damage Score |
0.0674 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (72/73) |
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 that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in impaired humeral immunity, reduced numbers of marginal zone B (MZB) cells, decreased basal T cell proliferation, and reduced basal motility of lymphocytes but enhanced migration of MZB cells after serum activation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
A |
5: 113,285,852 (GRCm39) |
M1L |
probably benign |
Het |
Ap1s3 |
T |
C |
1: 79,591,964 (GRCm39) |
K129E |
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,126,530 (GRCm39) |
V357I |
possibly damaging |
Het |
Aplp1 |
A |
T |
7: 30,142,523 (GRCm39) |
C140S |
probably damaging |
Het |
Asb4 |
A |
G |
6: 5,430,968 (GRCm39) |
H401R |
probably benign |
Het |
Bpi |
A |
T |
2: 158,103,093 (GRCm39) |
E79D |
probably benign |
Het |
Cant1 |
C |
T |
11: 118,301,724 (GRCm39) |
V198M |
possibly damaging |
Het |
Casp9 |
C |
T |
4: 141,532,778 (GRCm39) |
R225C |
probably benign |
Het |
Ccdc88b |
C |
A |
19: 6,834,837 (GRCm39) |
R82L |
probably benign |
Het |
Cfap251 |
A |
T |
5: 123,391,950 (GRCm39) |
E28V |
probably benign |
Het |
Chrm4 |
A |
G |
2: 91,757,699 (GRCm39) |
T36A |
probably benign |
Het |
Cntln |
A |
T |
4: 84,802,853 (GRCm39) |
D51V |
probably damaging |
Het |
Commd8 |
A |
T |
5: 72,320,081 (GRCm39) |
F120Y |
probably damaging |
Het |
Cpne6 |
A |
C |
14: 55,753,771 (GRCm39) |
T410P |
probably damaging |
Het |
Ctnnb1 |
A |
T |
9: 120,781,931 (GRCm39) |
I315F |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 66,009,784 (GRCm39) |
V701A |
probably damaging |
Het |
Efcab9 |
A |
G |
11: 32,472,851 (GRCm39) |
Y199H |
possibly damaging |
Het |
Endou |
T |
A |
15: 97,610,983 (GRCm39) |
|
probably null |
Het |
Fhip1a |
A |
G |
3: 85,583,560 (GRCm39) |
V412A |
probably benign |
Het |
Foxc2 |
C |
T |
8: 121,844,641 (GRCm39) |
P430S |
probably benign |
Het |
Gas2l3 |
T |
A |
10: 89,250,220 (GRCm39) |
K299N |
probably damaging |
Het |
Gm10375 |
G |
A |
14: 43,842,332 (GRCm39) |
Q133* |
probably null |
Het |
Gorab |
T |
C |
1: 163,220,009 (GRCm39) |
D211G |
probably damaging |
Het |
Grin3b |
T |
A |
10: 79,811,735 (GRCm39) |
S747T |
possibly damaging |
Het |
Gucd1 |
C |
A |
10: 75,347,120 (GRCm39) |
|
probably benign |
Het |
Gucy2d |
T |
C |
7: 98,100,876 (GRCm39) |
F400L |
possibly damaging |
Het |
Hivep3 |
G |
A |
4: 119,591,156 (GRCm39) |
V55M |
|
Het |
Igsf3 |
A |
G |
3: 101,367,238 (GRCm39) |
N1157S |
probably benign |
Het |
Irak3 |
A |
T |
10: 119,982,489 (GRCm39) |
D324E |
probably damaging |
Het |
Jup |
G |
T |
11: 100,273,878 (GRCm39) |
A221D |
possibly damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Lgr4 |
A |
G |
2: 109,827,936 (GRCm39) |
|
probably null |
Het |
Lrrc34 |
T |
C |
3: 30,679,041 (GRCm39) |
D352G |
probably benign |
Het |
Metrn |
C |
A |
17: 26,014,384 (GRCm39) |
A175S |
probably benign |
Het |
Nr2c1 |
T |
A |
10: 94,024,027 (GRCm39) |
S411T |
probably benign |
Het |
Or4c11 |
A |
G |
2: 88,695,153 (GRCm39) |
D68G |
possibly damaging |
Het |
Or5h22 |
T |
A |
16: 58,894,634 (GRCm39) |
I270F |
possibly damaging |
Het |
Orc3 |
T |
A |
4: 34,598,691 (GRCm39) |
K172* |
probably null |
Het |
Oxnad1 |
A |
G |
14: 31,823,965 (GRCm39) |
|
probably null |
Het |
Pcdh7 |
A |
G |
5: 57,877,672 (GRCm39) |
N409S |
probably damaging |
Het |
Pcdha11 |
A |
T |
18: 37,144,845 (GRCm39) |
N312I |
probably benign |
Het |
Pds5a |
G |
T |
5: 65,767,476 (GRCm39) |
P121Q |
unknown |
Het |
Phc1 |
A |
G |
6: 122,300,739 (GRCm39) |
I380T |
unknown |
Het |
Phldb3 |
C |
A |
7: 24,326,022 (GRCm39) |
H535N |
possibly damaging |
Het |
Proser3 |
T |
C |
7: 30,239,216 (GRCm39) |
Q600R |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,002,295 (GRCm39) |
M1462V |
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,726,586 (GRCm39) |
T243A |
probably damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,824,077 (GRCm39) |
D268Y |
probably null |
Het |
Rapgef5 |
A |
C |
12: 117,679,079 (GRCm39) |
Y419S |
probably damaging |
Het |
Rbm24 |
C |
A |
13: 46,582,605 (GRCm39) |
Q175K |
possibly damaging |
Het |
Robo4 |
A |
T |
9: 37,324,418 (GRCm39) |
D982V |
probably damaging |
Het |
Sbf2 |
T |
C |
7: 109,929,920 (GRCm39) |
|
probably null |
Het |
Serping1 |
A |
T |
2: 84,604,043 (GRCm39) |
|
probably null |
Het |
Shank1 |
C |
T |
7: 43,993,725 (GRCm39) |
S798F |
unknown |
Het |
Slc15a5 |
A |
T |
6: 138,056,745 (GRCm39) |
M57K |
probably damaging |
Het |
Slc35g1 |
T |
A |
19: 38,391,571 (GRCm39) |
C284* |
probably null |
Het |
Src |
G |
A |
2: 157,306,578 (GRCm39) |
D194N |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,616,726 (GRCm39) |
T84A |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,438,461 (GRCm39) |
T1510S |
probably benign |
Het |
Taar1 |
A |
T |
10: 23,797,135 (GRCm39) |
I278F |
possibly damaging |
Het |
Taf1a |
T |
C |
1: 183,185,583 (GRCm39) |
Y281H |
possibly damaging |
Het |
Thbs3 |
A |
T |
3: 89,132,207 (GRCm39) |
Y798F |
possibly damaging |
Het |
Tnpo1 |
T |
C |
13: 99,027,295 (GRCm39) |
T7A |
probably benign |
Het |
Traf7 |
A |
T |
17: 24,729,683 (GRCm39) |
|
probably null |
Het |
Trbv19 |
G |
A |
6: 41,155,547 (GRCm39) |
V9I |
possibly damaging |
Het |
Trim17 |
C |
T |
11: 58,856,110 (GRCm39) |
Q56* |
probably null |
Het |
Ttn |
G |
T |
2: 76,732,406 (GRCm39) |
A4643E |
unknown |
Het |
Ugt2b36 |
A |
G |
5: 87,229,367 (GRCm39) |
|
probably null |
Het |
Uso1 |
A |
G |
5: 92,349,795 (GRCm39) |
*960W |
probably null |
Het |
Usp2 |
G |
T |
9: 43,984,757 (GRCm39) |
|
probably null |
Het |
Wdr20rt |
A |
G |
12: 65,272,981 (GRCm39) |
D148G |
probably damaging |
Het |
Wif1 |
T |
C |
10: 120,919,864 (GRCm39) |
F204L |
probably damaging |
Het |
Wwp1 |
T |
C |
4: 19,627,645 (GRCm39) |
D750G |
probably benign |
Het |
Zfp1006 |
A |
T |
8: 129,945,660 (GRCm39) |
C388* |
probably null |
Het |
Zmynd12 |
A |
T |
4: 119,302,063 (GRCm39) |
D234V |
probably damaging |
Het |
|
Other mutations in Arhgef1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Arhgef1
|
APN |
7 |
24,607,784 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL00901:Arhgef1
|
APN |
7 |
24,612,118 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01139:Arhgef1
|
APN |
7 |
24,625,376 (GRCm39) |
unclassified |
probably benign |
|
IGL01479:Arhgef1
|
APN |
7 |
24,612,028 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01935:Arhgef1
|
APN |
7 |
24,621,307 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01944:Arhgef1
|
APN |
7 |
24,625,208 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02032:Arhgef1
|
APN |
7 |
24,622,796 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02059:Arhgef1
|
APN |
7 |
24,611,977 (GRCm39) |
splice site |
probably benign |
|
IGL02202:Arhgef1
|
APN |
7 |
24,612,854 (GRCm39) |
nonsense |
probably null |
|
IGL02324:Arhgef1
|
APN |
7 |
24,623,240 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02328:Arhgef1
|
APN |
7 |
24,623,240 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03027:Arhgef1
|
APN |
7 |
24,623,157 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03227:Arhgef1
|
APN |
7 |
24,622,276 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03404:Arhgef1
|
APN |
7 |
24,616,268 (GRCm39) |
missense |
probably benign |
0.07 |
BB009:Arhgef1
|
UTSW |
7 |
24,619,135 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Arhgef1
|
UTSW |
7 |
24,619,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Arhgef1
|
UTSW |
7 |
24,612,030 (GRCm39) |
nonsense |
probably null |
|
R0277:Arhgef1
|
UTSW |
7 |
24,623,224 (GRCm39) |
unclassified |
probably benign |
|
R0336:Arhgef1
|
UTSW |
7 |
24,621,382 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0494:Arhgef1
|
UTSW |
7 |
24,618,785 (GRCm39) |
intron |
probably benign |
|
R0668:Arhgef1
|
UTSW |
7 |
24,607,345 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1520:Arhgef1
|
UTSW |
7 |
24,619,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R1531:Arhgef1
|
UTSW |
7 |
24,624,423 (GRCm39) |
missense |
probably damaging |
0.99 |
R1656:Arhgef1
|
UTSW |
7 |
24,613,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R2979:Arhgef1
|
UTSW |
7 |
24,607,176 (GRCm39) |
missense |
unknown |
|
R3855:Arhgef1
|
UTSW |
7 |
24,618,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R3856:Arhgef1
|
UTSW |
7 |
24,618,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Arhgef1
|
UTSW |
7 |
24,625,271 (GRCm39) |
missense |
probably damaging |
0.96 |
R4081:Arhgef1
|
UTSW |
7 |
24,625,271 (GRCm39) |
missense |
probably damaging |
0.96 |
R4583:Arhgef1
|
UTSW |
7 |
24,611,996 (GRCm39) |
missense |
probably benign |
0.09 |
R4750:Arhgef1
|
UTSW |
7 |
24,618,001 (GRCm39) |
intron |
probably benign |
|
R4914:Arhgef1
|
UTSW |
7 |
24,623,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R5255:Arhgef1
|
UTSW |
7 |
24,624,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R5275:Arhgef1
|
UTSW |
7 |
24,618,777 (GRCm39) |
critical splice donor site |
probably null |
|
R5295:Arhgef1
|
UTSW |
7 |
24,618,777 (GRCm39) |
critical splice donor site |
probably null |
|
R5430:Arhgef1
|
UTSW |
7 |
24,611,732 (GRCm39) |
splice site |
probably null |
|
R5604:Arhgef1
|
UTSW |
7 |
24,612,210 (GRCm39) |
missense |
probably benign |
0.09 |
R6150:Arhgef1
|
UTSW |
7 |
24,618,782 (GRCm39) |
splice site |
probably null |
|
R6151:Arhgef1
|
UTSW |
7 |
24,617,367 (GRCm39) |
missense |
probably benign |
0.00 |
R6788:Arhgef1
|
UTSW |
7 |
24,619,205 (GRCm39) |
splice site |
probably null |
|
R6943:Arhgef1
|
UTSW |
7 |
24,623,156 (GRCm39) |
missense |
probably benign |
0.01 |
R6988:Arhgef1
|
UTSW |
7 |
24,616,348 (GRCm39) |
missense |
probably benign |
0.04 |
R7422:Arhgef1
|
UTSW |
7 |
24,615,461 (GRCm39) |
missense |
probably benign |
0.00 |
R7701:Arhgef1
|
UTSW |
7 |
24,612,003 (GRCm39) |
missense |
probably benign |
0.01 |
R7706:Arhgef1
|
UTSW |
7 |
24,616,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R7708:Arhgef1
|
UTSW |
7 |
24,616,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R7932:Arhgef1
|
UTSW |
7 |
24,619,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R7967:Arhgef1
|
UTSW |
7 |
24,616,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R7970:Arhgef1
|
UTSW |
7 |
24,616,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R7995:Arhgef1
|
UTSW |
7 |
24,618,641 (GRCm39) |
missense |
probably damaging |
0.99 |
R8029:Arhgef1
|
UTSW |
7 |
24,619,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R8132:Arhgef1
|
UTSW |
7 |
24,619,174 (GRCm39) |
nonsense |
probably null |
|
R8132:Arhgef1
|
UTSW |
7 |
24,607,087 (GRCm39) |
intron |
probably benign |
|
R8168:Arhgef1
|
UTSW |
7 |
24,624,831 (GRCm39) |
missense |
probably benign |
0.06 |
R8964:Arhgef1
|
UTSW |
7 |
24,622,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R9114:Arhgef1
|
UTSW |
7 |
24,607,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R9553:Arhgef1
|
UTSW |
7 |
24,619,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R9676:Arhgef1
|
UTSW |
7 |
24,625,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGAGCACAGTGTCATAGTTC -3'
(R):5'- TCAGAGCCCAAAGGGTAAAC -3'
Sequencing Primer
(F):5'- AGAGCACAGTGTCATAGTTCTCCTG -3'
(R):5'- AGCGGGCAATTACTACCCCTG -3'
|
Posted On |
2019-11-12 |