Incidental Mutation 'R6943:Arhgef1'
| ID |
540652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef1
|
| Ensembl Gene |
ENSMUSG00000040940 |
| Gene Name |
Rho guanine nucleotide exchange factor 1 |
| Synonyms |
Lbcl2, Lsc |
| MMRRC Submission |
045057-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.389)
|
| Stock # |
R6943 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24602337-24626019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24623156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 423
(I423V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047873]
[ENSMUST00000098683]
[ENSMUST00000117419]
[ENSMUST00000117796]
[ENSMUST00000132751]
[ENSMUST00000205295]
[ENSMUST00000206508]
[ENSMUST00000206705]
|
| AlphaFold |
Q61210 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047873
AA Change: I663V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: I663V
| 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 benign
Transcript: ENSMUST00000098683
AA Change: I722V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: I722V
| 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
AA Change: I663V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: I663V
| 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 benign
Transcript: ENSMUST00000117796
AA Change: I719V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: I719V
| 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 |
probably benign
Transcript: ENSMUST00000132751
AA Change: I423V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940
AA Change: I423V
| 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: ENSMUST00000205295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206508
AA Change: I662V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206705
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.2%
|
| 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 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,583,362 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,408,280 (GRCm39) |
L2389P |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,812,860 (GRCm39) |
M222V |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,985,016 (GRCm39) |
G3013C |
unknown |
Het |
| Camsap2 |
T |
C |
1: 136,232,187 (GRCm39) |
H136R |
probably damaging |
Het |
| Ccar1 |
A |
G |
10: 62,582,715 (GRCm39) |
V1047A |
unknown |
Het |
| Ccdc80 |
A |
G |
16: 44,915,445 (GRCm39) |
E67G |
probably benign |
Het |
| Ces3b |
G |
T |
8: 105,819,710 (GRCm39) |
G511V |
probably damaging |
Het |
| Cops6 |
T |
A |
5: 138,161,790 (GRCm39) |
H224Q |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,235,866 (GRCm39) |
D331V |
probably damaging |
Het |
| Dusp29 |
T |
C |
14: 21,727,135 (GRCm39) |
D171G |
probably damaging |
Het |
| Echs1 |
G |
A |
7: 139,688,007 (GRCm39) |
T266I |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,130,406 (GRCm39) |
C1017Y |
probably damaging |
Het |
| Epb41l5 |
C |
T |
1: 119,536,859 (GRCm39) |
R344Q |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,791,477 (GRCm39) |
V913I |
probably benign |
Het |
| Foxd4 |
A |
G |
19: 24,877,240 (GRCm39) |
F320S |
probably damaging |
Het |
| Frmpd4 |
C |
T |
X: 166,387,579 (GRCm39) |
R133K |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,233,917 (GRCm39) |
Y258C |
probably damaging |
Het |
| Gphn |
C |
G |
12: 78,538,955 (GRCm39) |
S200R |
possibly damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| H2-Q7 |
T |
G |
17: 35,658,560 (GRCm39) |
M66R |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,004,058 (GRCm39) |
C219S |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 93,942,261 (GRCm39) |
M90K |
possibly damaging |
Het |
| Itga8 |
C |
A |
2: 12,160,182 (GRCm39) |
|
probably null |
Het |
| Klrk1 |
T |
A |
6: 129,598,203 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kmo |
T |
A |
1: 175,485,941 (GRCm39) |
F385I |
probably benign |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc3c |
A |
G |
11: 98,490,075 (GRCm39) |
D144G |
probably damaging |
Het |
| Lyzl4 |
C |
T |
9: 121,412,047 (GRCm39) |
W123* |
probably null |
Het |
| Map3k1 |
A |
G |
13: 111,909,246 (GRCm39) |
S77P |
probably benign |
Het |
| Mark1 |
T |
C |
1: 184,630,984 (GRCm39) |
T709A |
probably damaging |
Het |
| Nbr1 |
A |
T |
11: 101,468,777 (GRCm39) |
I878F |
probably damaging |
Het |
| Nedd1 |
A |
T |
10: 92,547,168 (GRCm39) |
H118Q |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,678,770 (GRCm39) |
G873S |
probably damaging |
Het |
| Ngly1 |
T |
G |
14: 16,283,467 (GRCm38) |
N415K |
probably damaging |
Het |
| Nol6 |
C |
A |
4: 41,118,962 (GRCm39) |
R677L |
probably damaging |
Het |
| Nop9 |
T |
C |
14: 55,990,270 (GRCm39) |
V471A |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,802,577 (GRCm39) |
N1333D |
probably benign |
Het |
| Nsun2 |
G |
A |
13: 69,778,152 (GRCm39) |
G478R |
probably damaging |
Het |
| Or10x4 |
T |
A |
1: 174,219,407 (GRCm39) |
Y257* |
probably null |
Het |
| Or1ad8 |
T |
A |
11: 50,898,153 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5m9b |
T |
C |
2: 85,905,264 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8g34 |
A |
T |
9: 39,373,159 (GRCm39) |
Y144F |
probably benign |
Het |
| Pcp4l1 |
T |
C |
1: 171,002,022 (GRCm39) |
E46G |
possibly damaging |
Het |
| Plek2 |
T |
C |
12: 78,936,083 (GRCm39) |
|
probably null |
Het |
| Rbl1 |
T |
G |
2: 157,030,206 (GRCm39) |
I434L |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,581,834 (GRCm39) |
V4777A |
possibly damaging |
Het |
| Sgk1 |
T |
C |
10: 21,758,593 (GRCm39) |
F19S |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,532,677 (GRCm39) |
A2978V |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,033,940 (GRCm39) |
T7711A |
probably benign |
Het |
| Taf10 |
G |
A |
7: 105,393,383 (GRCm39) |
T48I |
probably benign |
Het |
| Tgfbi |
T |
G |
13: 56,784,989 (GRCm39) |
S649A |
possibly damaging |
Het |
| Thbs3 |
T |
C |
3: 89,132,171 (GRCm39) |
V749A |
probably benign |
Het |
| Tmem241 |
G |
T |
18: 12,180,641 (GRCm39) |
H218N |
possibly damaging |
Het |
| Tmem266 |
C |
T |
9: 55,284,851 (GRCm39) |
|
probably benign |
Het |
| Tnc |
T |
C |
4: 63,900,982 (GRCm39) |
I1586M |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,164,442 (GRCm39) |
C2676* |
probably null |
Het |
| Unc13a |
A |
T |
8: 72,105,021 (GRCm39) |
I747N |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,073,097 (GRCm39) |
|
probably benign |
Het |
| Vmn1r184 |
C |
T |
7: 25,966,563 (GRCm39) |
T103I |
possibly damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,474 (GRCm39) |
V35A |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,448,835 (GRCm39) |
H603R |
possibly damaging |
Het |
| Zfp105 |
A |
G |
9: 122,754,303 (GRCm39) |
D44G |
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,735,152 (GRCm39) |
H103R |
probably damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,795 (GRCm39) |
F947L |
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 |
|
|
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 |
|
|
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'- ATGGTGACCTCTGACCTCAC -3'
(R):5'- ATAGGACAAGTGCGCTCAG -3'
Sequencing Primer
(F):5'- ACTCCCTGGTCCTTGGCTG -3'
(R):5'- AAGTGCGCTCAGATGACCTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation