Incidental Mutation 'R9114:Arhgef1'
| ID |
692411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef1
|
| Ensembl Gene |
ENSMUSG00000040940 |
| Gene Name |
Rho guanine nucleotide exchange factor 1 |
| Synonyms |
Lbcl2, Lsc |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
R9114 (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 A
at 24607304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 17
(L17Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047873]
[ENSMUST00000098683]
[ENSMUST00000117419]
[ENSMUST00000117796]
[ENSMUST00000151121]
[ENSMUST00000205295]
[ENSMUST00000206011]
[ENSMUST00000206028]
[ENSMUST00000206508]
[ENSMUST00000206906]
|
| AlphaFold |
Q61210 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047873
AA Change: L17Q
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: L17Q
| 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: L17Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: L17Q
| 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: L17Q
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: L17Q
| 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: L17Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: L17Q
| 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: ENSMUST00000151121
AA Change: L17Q
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114388
Gene: ENSMUSG00000040940
AA Change: L17Q
| 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 damaging
Transcript: ENSMUST00000205295
AA Change: L17Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206011
AA Change: L17Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206028
AA Change: W27R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206508
AA Change: L17Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206906
AA Change: L17Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,788,702 (GRCm39) |
L1027* |
probably null |
Het |
| Actl11 |
T |
A |
9: 107,808,509 (GRCm39) |
M944K |
possibly damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,906,427 (GRCm39) |
K491E |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,561,164 (GRCm39) |
D150E |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,242 (GRCm39) |
S169P |
|
Het |
| C4b |
A |
T |
17: 34,948,404 (GRCm39) |
F1610I |
probably damaging |
Het |
| Chtf8 |
C |
A |
8: 107,612,481 (GRCm39) |
A153S |
probably benign |
Het |
| Ciapin1 |
C |
T |
8: 95,558,400 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,429,395 (GRCm39) |
E171G |
possibly damaging |
Het |
| Crybb3 |
T |
C |
5: 113,225,407 (GRCm39) |
N155S |
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,317,683 (GRCm39) |
M773K |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,489,267 (GRCm39) |
V260D |
probably damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,307,321 (GRCm39) |
N2216Y |
|
Het |
| Epn2 |
T |
C |
11: 61,437,446 (GRCm39) |
E42G |
probably damaging |
Het |
| Esrrg |
C |
A |
1: 187,878,605 (GRCm39) |
P229T |
probably benign |
Het |
| Esrrg |
C |
A |
1: 187,878,606 (GRCm39) |
P229Q |
possibly damaging |
Het |
| Ethe1 |
G |
T |
7: 24,305,643 (GRCm39) |
R130L |
probably benign |
Het |
| Fgl2 |
G |
A |
5: 21,580,363 (GRCm39) |
C235Y |
probably damaging |
Het |
| Fmnl1 |
C |
T |
11: 103,087,327 (GRCm39) |
T890M |
unknown |
Het |
| Fsip2 |
C |
G |
2: 82,807,301 (GRCm39) |
P1207A |
probably benign |
Het |
| Gc |
C |
T |
5: 89,593,165 (GRCm39) |
D85N |
possibly damaging |
Het |
| Gfi1 |
G |
A |
5: 107,869,370 (GRCm39) |
R287W |
probably damaging |
Het |
| Gm3629 |
T |
C |
14: 17,834,566 (GRCm39) |
|
probably null |
Het |
| Hapln3 |
A |
G |
7: 78,771,712 (GRCm39) |
F59S |
probably benign |
Het |
| Il24 |
G |
A |
1: 130,813,483 (GRCm39) |
T38I |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,276,583 (GRCm39) |
D382G |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,382,887 (GRCm39) |
Y739* |
probably null |
Het |
| Kif2b |
T |
A |
11: 91,466,538 (GRCm39) |
I582F |
possibly damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,288,783 (GRCm39) |
Y31C |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,128,669 (GRCm39) |
E3009K |
|
Het |
| Mad2l1bp |
G |
A |
17: 46,458,958 (GRCm39) |
R191C |
probably damaging |
Het |
| Mark1 |
A |
C |
1: 184,644,261 (GRCm39) |
S468A |
probably damaging |
Het |
| Mknk2 |
T |
A |
10: 80,504,823 (GRCm39) |
N236Y |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,287,983 (GRCm39) |
C251* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,552,252 (GRCm39) |
D313G |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,099,599 (GRCm39) |
D4750E |
probably benign |
Het |
| Nlrp6 |
T |
C |
7: 140,506,332 (GRCm39) |
S758P |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or13a28 |
A |
C |
7: 140,218,282 (GRCm39) |
I223L |
probably benign |
Het |
| Or51b4 |
T |
C |
7: 103,530,569 (GRCm39) |
T294A |
possibly damaging |
Het |
| Or8b3b |
A |
G |
9: 38,583,892 (GRCm39) |
F283L |
probably benign |
Het |
| Oxtr |
A |
G |
6: 112,466,481 (GRCm39) |
V93A |
probably damaging |
Het |
| Pbx3 |
C |
A |
2: 34,103,271 (GRCm39) |
D234Y |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,459,826 (GRCm39) |
T554S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,015,955 (GRCm39) |
Y151N |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,591,307 (GRCm39) |
E234G |
possibly damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,789 (GRCm39) |
V373A |
probably benign |
Het |
| Ppp1r12c |
T |
C |
7: 4,485,792 (GRCm39) |
K685E |
possibly damaging |
Het |
| Rnf34 |
T |
A |
5: 122,999,957 (GRCm39) |
V71D |
probably damaging |
Het |
| Rpap2 |
T |
G |
5: 107,746,156 (GRCm39) |
H11Q |
possibly damaging |
Het |
| Skint2 |
A |
G |
4: 112,496,834 (GRCm39) |
T247A |
probably benign |
Het |
| Stat5b |
T |
A |
11: 100,692,350 (GRCm39) |
N145Y |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,856,017 (GRCm39) |
L91P |
probably damaging |
Het |
| Syt1 |
A |
G |
10: 108,340,376 (GRCm39) |
I314T |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,572,502 (GRCm39) |
N355K |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,890,973 (GRCm39) |
M1636I |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,162,843 (GRCm39) |
A34D |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,719,665 (GRCm39) |
I1001T |
probably benign |
Het |
| Vdr |
T |
C |
15: 97,765,136 (GRCm39) |
D201G |
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,564,307 (GRCm39) |
I160L |
probably benign |
Het |
| Wdr81 |
C |
A |
11: 75,335,250 (GRCm39) |
R1772L |
probably damaging |
Het |
| Zfp457 |
T |
C |
13: 67,442,068 (GRCm39) |
D169G |
probably benign |
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 |
|
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 |
|
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'- ATCTGTGAGTAACTGCCCAGC -3'
(R):5'- ATGGGTGGGACTACTGTAGAC -3'
Sequencing Primer
(F):5'- AGTAACTGCCCAGCCTCGG -3'
(R):5'- CTGTAGACAGTTACACATGGGGTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation