Incidental Mutation 'R0336:Arhgef1'
| ID |
34116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef1
|
| Ensembl Gene |
ENSMUSG00000040940 |
| Gene Name |
Rho guanine nucleotide exchange factor 1 |
| Synonyms |
Lbcl2, Lsc |
| MMRRC Submission |
038545-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.389)
|
| Stock # |
R0336 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24602337-24626019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24621382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 510
(F510I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047873]
[ENSMUST00000098683]
[ENSMUST00000117419]
[ENSMUST00000117796]
[ENSMUST00000132751]
[ENSMUST00000206508]
[ENSMUST00000205295]
|
| AlphaFold |
Q61210 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047873
AA Change: F451I
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: F451I
| 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: ENSMUST00000098683
AA Change: F510I
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: F510I
| 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: F451I
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: F451I
| 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: F507I
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: F507I
| 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 benign
Transcript: ENSMUST00000132751
AA Change: F211I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940
AA Change: F211I
| 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: ENSMUST00000206508
AA Change: F450I
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145783
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205295
|
| Meta Mutation Damage Score |
0.2035 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| Validation Efficiency |
98% (62/63) |
| 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 |
|---|
| Abca13 |
A |
G |
11: 9,248,481 (GRCm39) |
I2743V |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,939,913 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,458,998 (GRCm39) |
I427V |
probably benign |
Het |
| B3glct |
A |
G |
5: 149,670,057 (GRCm39) |
D342G |
probably damaging |
Het |
| Bcl2a1c |
G |
T |
9: 114,159,353 (GRCm39) |
V44F |
probably damaging |
Het |
| Brca1 |
A |
G |
11: 101,414,819 (GRCm39) |
V1105A |
probably benign |
Het |
| Ccn5 |
C |
A |
2: 163,674,242 (GRCm39) |
A214D |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,749,349 (GRCm39) |
H272R |
probably benign |
Het |
| Coa8 |
T |
C |
12: 111,700,092 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
A |
C |
11: 113,553,076 (GRCm39) |
H365P |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,609,627 (GRCm39) |
L293Q |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,894,570 (GRCm39) |
L1493P |
probably damaging |
Het |
| Ctsh |
A |
G |
9: 89,957,791 (GRCm39) |
Y290C |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Defb39 |
G |
T |
8: 19,102,985 (GRCm39) |
H37N |
possibly damaging |
Het |
| Epha3 |
A |
G |
16: 63,387,011 (GRCm39) |
I875T |
probably damaging |
Het |
| Fbrsl1 |
A |
G |
5: 110,595,817 (GRCm39) |
S73P |
probably damaging |
Het |
| Fga |
T |
C |
3: 82,938,164 (GRCm39) |
S180P |
probably damaging |
Het |
| Fndc1 |
C |
T |
17: 7,983,939 (GRCm39) |
R1329Q |
unknown |
Het |
| Fyn |
C |
A |
10: 39,402,897 (GRCm39) |
T223K |
possibly damaging |
Het |
| Galnt6 |
A |
T |
15: 100,597,087 (GRCm39) |
S360T |
probably damaging |
Het |
| Grsf1 |
C |
A |
5: 88,811,012 (GRCm39) |
V336F |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,457,467 (GRCm39) |
Y720N |
probably benign |
Het |
| Hivep3 |
G |
A |
4: 119,961,044 (GRCm39) |
E1700K |
probably damaging |
Het |
| Ifna6 |
T |
C |
4: 88,746,178 (GRCm39) |
S176P |
probably damaging |
Het |
| Lilrb4b |
T |
A |
10: 51,357,389 (GRCm39) |
L75Q |
probably benign |
Het |
| Lrig3 |
C |
T |
10: 125,802,574 (GRCm39) |
T77I |
probably benign |
Het |
| Mpped1 |
C |
T |
15: 83,720,483 (GRCm39) |
P135L |
probably damaging |
Het |
| Mss51 |
T |
A |
14: 20,533,254 (GRCm39) |
I406F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,155,040 (GRCm39) |
N956D |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,498 (GRCm39) |
I148M |
possibly damaging |
Het |
| Podxl2 |
G |
A |
6: 88,826,577 (GRCm39) |
T243I |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,627,719 (GRCm39) |
R1396Q |
possibly damaging |
Het |
| Pramel51 |
T |
C |
12: 88,144,961 (GRCm39) |
I122V |
probably benign |
Het |
| Pygm |
C |
T |
19: 6,438,788 (GRCm39) |
R205W |
probably damaging |
Het |
| Rfx3 |
A |
G |
19: 27,783,662 (GRCm39) |
M428T |
probably benign |
Het |
| Ric1 |
A |
T |
19: 29,565,193 (GRCm39) |
T647S |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,806,234 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,152,350 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,935,892 (GRCm39) |
I41K |
probably damaging |
Het |
| St8sia4 |
T |
A |
1: 95,581,283 (GRCm39) |
D153V |
probably benign |
Het |
| Stk33 |
T |
C |
7: 108,930,681 (GRCm39) |
N226S |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,708,391 (GRCm39) |
|
probably null |
Het |
| Tlr6 |
G |
T |
5: 65,111,289 (GRCm39) |
N539K |
probably benign |
Het |
| Tmem129 |
G |
T |
5: 33,812,946 (GRCm39) |
P134Q |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,678,211 (GRCm39) |
I145V |
probably benign |
Het |
| Trap1 |
A |
C |
16: 3,862,490 (GRCm39) |
V596G |
probably damaging |
Het |
| Tspan2 |
A |
G |
3: 102,642,343 (GRCm39) |
I11V |
probably null |
Het |
| Ttc23 |
A |
T |
7: 67,312,231 (GRCm39) |
H46L |
probably benign |
Het |
| Txnip |
T |
A |
3: 96,467,295 (GRCm39) |
D292E |
probably benign |
Het |
| Vmn1r121 |
T |
A |
7: 20,832,387 (GRCm39) |
I18F |
possibly damaging |
Het |
| Vmn1r61 |
G |
A |
7: 5,614,066 (GRCm39) |
H83Y |
probably benign |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,248 (GRCm39) |
S174P |
probably benign |
Het |
| Vmn2r79 |
A |
C |
7: 86,651,287 (GRCm39) |
T229P |
probably benign |
Het |
| Vps13b |
T |
G |
15: 35,455,279 (GRCm39) |
Y729* |
probably null |
Het |
| Xdh |
C |
T |
17: 74,229,458 (GRCm39) |
V332M |
possibly damaging |
Het |
| Xkr5 |
C |
A |
8: 18,990,652 (GRCm39) |
R205L |
possibly damaging |
Het |
| Zc3h4 |
T |
C |
7: 16,169,103 (GRCm39) |
S1071P |
unknown |
Het |
| Zc3h6 |
A |
G |
2: 128,857,332 (GRCm39) |
H617R |
possibly damaging |
Het |
| Zfp597 |
A |
G |
16: 3,684,243 (GRCm39) |
V171A |
probably benign |
Het |
| Zfp709 |
T |
C |
8: 72,644,449 (GRCm39) |
F626S |
probably damaging |
Het |
| Zfp944 |
C |
A |
17: 22,558,009 (GRCm39) |
D413Y |
probably damaging |
Het |
| Zfp979 |
A |
C |
4: 147,697,592 (GRCm39) |
S372R |
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 |
|
|
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 |
|
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'- ACTCCTAAGTGCCTACATAAGGCGG -3'
(R):5'- AGACTGAAATGCCTGGTTTAGGTTGC -3'
Sequencing Primer
(F):5'- acaacagtggcaaaatgacag -3'
(R):5'- AATGTGTGGTCCCCAGGAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation