Incidental Mutation 'R8029:Arhgef1'
| ID |
617824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef1
|
| Ensembl Gene |
ENSMUSG00000040940 |
| Gene Name |
Rho guanine nucleotide exchange factor 1 |
| Synonyms |
Lbcl2, Lsc |
| MMRRC Submission |
067468-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
R8029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24602337-24626019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24619163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 468
(L468P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047873]
[ENSMUST00000098683]
[ENSMUST00000117419]
[ENSMUST00000117796]
[ENSMUST00000132751]
[ENSMUST00000205295]
[ENSMUST00000206508]
|
| AlphaFold |
Q61210 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047873
AA Change: L409P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: L409P
| 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: L468P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: L468P
| 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 damaging
Transcript: ENSMUST00000117419
AA Change: L409P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: L409P
| 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: L465P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: L465P
| 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 damaging
Transcript: ENSMUST00000132751
AA Change: L169P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940
AA Change: L169P
| 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 damaging
Transcript: ENSMUST00000206508
AA Change: L408P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
G |
2: 58,186,129 (GRCm39) |
I118T |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,522,934 (GRCm39) |
D36G |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,802,996 (GRCm39) |
L559Q |
probably damaging |
Het |
| Asb3 |
A |
T |
11: 31,051,180 (GRCm39) |
R506* |
probably null |
Het |
| Aspm |
A |
G |
1: 139,399,370 (GRCm39) |
H1045R |
probably benign |
Het |
| Cacna1g |
G |
T |
11: 94,300,564 (GRCm39) |
R2099S |
probably benign |
Het |
| Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
| Cd34 |
A |
C |
1: 194,640,860 (GRCm39) |
M242L |
probably benign |
Het |
| Cdh24 |
T |
A |
14: 54,876,856 (GRCm39) |
N49I |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,561,482 (GRCm39) |
N192S |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,312,519 (GRCm39) |
I331V |
possibly damaging |
Het |
| Disp1 |
A |
G |
1: 182,870,852 (GRCm39) |
S523P |
probably damaging |
Het |
| Dlgap5 |
T |
C |
14: 47,653,897 (GRCm39) |
H44R |
probably benign |
Het |
| Dnajc30 |
G |
T |
5: 135,093,186 (GRCm39) |
A28S |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Exd1 |
A |
T |
2: 119,359,204 (GRCm39) |
H226Q |
probably damaging |
Het |
| Gata6 |
T |
A |
18: 11,054,944 (GRCm39) |
V291E |
possibly damaging |
Het |
| Get3 |
T |
C |
8: 85,746,456 (GRCm39) |
M131V |
probably benign |
Het |
| Gfi1b |
A |
T |
2: 28,503,687 (GRCm39) |
|
probably null |
Het |
| Grk3 |
T |
A |
5: 113,109,508 (GRCm39) |
I150L |
probably benign |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,817,278 (GRCm39) |
F17S |
probably benign |
Het |
| Ighg1 |
T |
C |
12: 113,292,765 (GRCm39) |
K268R |
|
Het |
| Lama1 |
G |
T |
17: 68,124,589 (GRCm39) |
R2883M |
|
Het |
| Lpar3 |
T |
C |
3: 145,946,718 (GRCm39) |
M132T |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,338,685 (GRCm39) |
T4351A |
possibly damaging |
Het |
| Marchf6 |
A |
G |
15: 31,496,148 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
C |
A |
8: 120,274,544 (GRCm39) |
|
probably benign |
Het |
| Mctp1 |
T |
C |
13: 77,178,005 (GRCm39) |
Y931H |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,504 (GRCm39) |
|
probably null |
Het |
| Myh1 |
G |
T |
11: 67,102,066 (GRCm39) |
|
probably null |
Het |
| Mylk2 |
T |
C |
2: 152,762,219 (GRCm39) |
S497P |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,214,255 (GRCm39) |
D470G |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,121,383 (GRCm39) |
P722S |
possibly damaging |
Het |
| Nphp1 |
T |
C |
2: 127,583,036 (GRCm39) |
T626A |
probably benign |
Het |
| Nudt9 |
C |
T |
5: 104,198,477 (GRCm39) |
|
probably benign |
Het |
| Oplah |
T |
C |
15: 76,189,896 (GRCm39) |
Y143C |
probably benign |
Het |
| Or10a3m |
T |
A |
7: 108,313,037 (GRCm39) |
F159Y |
possibly damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,376 (GRCm39) |
T71A |
probably benign |
Het |
| Or7e178 |
A |
G |
9: 20,225,643 (GRCm39) |
F191S |
possibly damaging |
Het |
| Or7g20 |
T |
C |
9: 18,947,090 (GRCm39) |
S224P |
probably damaging |
Het |
| Osbpl1a |
T |
G |
18: 13,047,578 (GRCm39) |
E125D |
probably benign |
Het |
| P2ry1 |
C |
A |
3: 60,910,943 (GRCm39) |
N27K |
possibly damaging |
Het |
| Palld |
A |
T |
8: 62,330,346 (GRCm39) |
I177N |
probably damaging |
Het |
| Plcl1 |
A |
T |
1: 55,735,237 (GRCm39) |
I193L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,889,940 (GRCm39) |
L53* |
probably null |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,518 (GRCm39) |
E531G |
possibly damaging |
Het |
| Prex1 |
C |
A |
2: 166,417,523 (GRCm39) |
Q1361H |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,006,197 (GRCm39) |
E795G |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,711,992 (GRCm39) |
V295I |
probably damaging |
Het |
| Rnaseh2b |
T |
C |
14: 62,590,997 (GRCm39) |
V116A |
possibly damaging |
Het |
| Rnf43 |
T |
A |
11: 87,622,720 (GRCm39) |
L480H |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,108,598 (GRCm39) |
T1601A |
not run |
Het |
| Setd1a |
C |
G |
7: 127,385,386 (GRCm39) |
Q698E |
probably benign |
Het |
| Sh3gl3 |
T |
C |
7: 81,920,091 (GRCm39) |
Y100H |
probably benign |
Het |
| Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
| Snx13 |
A |
C |
12: 35,169,885 (GRCm39) |
H610P |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,191 (GRCm39) |
H543R |
possibly damaging |
Het |
| Spdl1 |
T |
C |
11: 34,713,419 (GRCm39) |
R217G |
probably benign |
Het |
| Spop |
G |
A |
11: 95,365,193 (GRCm39) |
E113K |
probably benign |
Het |
| Sult2a3 |
G |
A |
7: 13,855,553 (GRCm39) |
P101L |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,254,600 (GRCm39) |
H348Y |
probably damaging |
Het |
| Tmie |
T |
C |
9: 110,696,555 (GRCm39) |
T109A |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,381,551 (GRCm39) |
V140A |
possibly damaging |
Het |
| Ube2m |
A |
G |
7: 12,770,524 (GRCm39) |
L58P |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,576,040 (GRCm39) |
S839P |
possibly damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,744 (GRCm39) |
D221V |
probably benign |
Het |
| Vps41 |
C |
T |
13: 19,007,955 (GRCm39) |
Q263* |
probably null |
Het |
| Zfand3 |
A |
T |
17: 30,354,407 (GRCm39) |
T75S |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,629,520 (GRCm39) |
C202R |
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 |
|
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 |
|
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'- TCAAATGTCAAGGCCACAGAG -3'
(R):5'- CAGTGGCACTTGGCTTACTC -3'
Sequencing Primer
(F):5'- GCCACAGAGGGCTTGTAAC -3'
(R):5'- ACTTGGCTTACTCACACTGGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation