Incidental Mutation 'R3855:Arhgef1'
ID |
276109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef1
|
Ensembl Gene |
ENSMUSG00000040940 |
Gene Name |
Rho guanine nucleotide exchange factor 1 |
Synonyms |
Lbcl2, Lsc |
MMRRC Submission |
040901-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.389)
|
Stock # |
R3855 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
24602337-24626019 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24618697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 107
(G107S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047873]
[ENSMUST00000098683]
[ENSMUST00000117419]
[ENSMUST00000117796]
[ENSMUST00000132751]
[ENSMUST00000205295]
[ENSMUST00000206508]
|
AlphaFold |
Q61210 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047873
|
SMART Domains |
Protein: ENSMUSP00000046469 Gene: ENSMUSG00000040940
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: G406S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096280 Gene: ENSMUSG00000040940 AA Change: G406S
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 |
probably benign
Transcript: ENSMUST00000117419
|
SMART Domains |
Protein: ENSMUSP00000113366 Gene: ENSMUSG00000040940
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 |
possibly damaging
Transcript: ENSMUST00000117796
AA Change: G403S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113771 Gene: ENSMUSG00000040940 AA Change: G403S
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 |
noncoding transcript
Transcript: ENSMUST00000126484
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129928
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132751
AA Change: G107S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117008 Gene: ENSMUSG00000040940 AA Change: G107S
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 |
noncoding transcript
Transcript: ENSMUST00000145783
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205295
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144714
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132786
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206508
|
Meta Mutation Damage Score |
0.1513 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.3%
|
Validation Efficiency |
98% (45/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
A |
T |
4: 63,291,705 (GRCm39) |
S1144R |
probably damaging |
Het |
Apbb1ip |
T |
C |
2: 22,765,187 (GRCm39) |
S623P |
unknown |
Het |
Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
Ccnq |
T |
C |
11: 78,642,013 (GRCm39) |
N159S |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
Cog2 |
T |
C |
8: 125,256,742 (GRCm39) |
|
probably null |
Het |
Dennd4c |
G |
A |
4: 86,698,084 (GRCm39) |
V191M |
probably damaging |
Het |
Dthd1 |
T |
A |
5: 62,984,472 (GRCm39) |
H392Q |
probably benign |
Het |
Dthd1 |
T |
C |
5: 63,045,366 (GRCm39) |
V710A |
probably benign |
Het |
Galnt7 |
T |
C |
8: 57,985,658 (GRCm39) |
|
probably benign |
Het |
Gm4868 |
A |
G |
5: 125,925,609 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
T |
C |
11: 97,232,260 (GRCm39) |
E648G |
probably damaging |
Het |
Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
Itgb3bp |
T |
C |
4: 99,686,957 (GRCm39) |
E76G |
possibly damaging |
Het |
Khk |
A |
G |
5: 31,084,401 (GRCm39) |
D82G |
probably benign |
Het |
Kif17 |
A |
G |
4: 138,018,821 (GRCm39) |
S533G |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,741,796 (GRCm39) |
|
probably benign |
Het |
Kmt5c |
T |
C |
7: 4,749,255 (GRCm39) |
F104S |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Mdh1 |
C |
T |
11: 21,509,281 (GRCm39) |
V234I |
probably benign |
Het |
Nbas |
T |
A |
12: 13,329,415 (GRCm39) |
I120N |
possibly damaging |
Het |
Nfia |
A |
G |
4: 97,951,259 (GRCm39) |
H362R |
probably damaging |
Het |
Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
Nme5 |
A |
G |
18: 34,702,884 (GRCm39) |
S135P |
possibly damaging |
Het |
Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
Nufip2 |
T |
C |
11: 77,583,715 (GRCm39) |
V543A |
probably damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,835 (GRCm39) |
I204F |
possibly damaging |
Het |
Or2y10 |
A |
G |
11: 49,454,918 (GRCm39) |
T57A |
probably damaging |
Het |
Otog |
T |
C |
7: 45,923,184 (GRCm39) |
S1020P |
possibly damaging |
Het |
Pear1 |
T |
C |
3: 87,659,228 (GRCm39) |
H814R |
possibly damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,915,047 (GRCm39) |
|
probably null |
Het |
Pla2g4a |
T |
A |
1: 149,705,928 (GRCm39) |
I711F |
possibly damaging |
Het |
Ppig |
G |
A |
2: 69,579,719 (GRCm39) |
V418I |
unknown |
Het |
Prg4 |
T |
C |
1: 150,327,751 (GRCm39) |
Y234C |
probably damaging |
Het |
Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
Sepsecs |
G |
A |
5: 52,821,616 (GRCm39) |
R74C |
probably damaging |
Het |
Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
Sox11 |
C |
A |
12: 27,391,501 (GRCm39) |
G303C |
probably damaging |
Het |
Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
probably benign |
Het |
Xylt1 |
T |
G |
7: 117,192,777 (GRCm39) |
L361R |
probably damaging |
Het |
Zfp512 |
A |
G |
5: 31,637,593 (GRCm39) |
R505G |
possibly 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 |
|
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 |
R7707: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'- GATCTCCCCTGTTGGCTGTC -3'
(R):5'- AGCAACCTCAGACACCGGAT -3'
Sequencing Primer
(F):5'- CCTGTTGGCTGTCCCTGG -3'
(R):5'- ACACCGGATGTCTATTTCTTTGAGAG -3'
|
Posted On |
2015-04-06 |