Incidental Mutation 'R3856:Arhgef1'
| ID |
276159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef1
|
| Ensembl Gene |
ENSMUSG00000040940 |
| Gene Name |
Rho guanine nucleotide exchange factor 1 |
| Synonyms |
Lbcl2, Lsc |
| MMRRC Submission |
040902-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.389)
|
| Stock # |
R3856 (G1)
|
| Quality Score |
195 |
|
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: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
C |
14: 103,292,882 (GRCm39) |
S469P |
possibly damaging |
Het |
| Adgrf5 |
A |
T |
17: 43,757,927 (GRCm39) |
N787I |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,723,493 (GRCm39) |
T945A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,293,093 (GRCm39) |
I863N |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,548,019 (GRCm39) |
I891T |
probably benign |
Het |
| Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,599 (GRCm39) |
T587A |
probably damaging |
Het |
| Atxn7l3 |
T |
C |
11: 102,184,729 (GRCm39) |
D128G |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,611,427 (GRCm39) |
Y457C |
probably damaging |
Het |
| Ccdc60 |
A |
C |
5: 116,310,514 (GRCm39) |
C183G |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
| Cnst |
C |
T |
1: 179,407,279 (GRCm39) |
P109S |
probably benign |
Het |
| Crtc2 |
G |
T |
3: 90,169,877 (GRCm39) |
L509F |
probably damaging |
Het |
| Ctsr |
A |
T |
13: 61,309,750 (GRCm39) |
I153N |
possibly damaging |
Het |
| Dffa |
A |
T |
4: 149,188,708 (GRCm39) |
M1L |
possibly damaging |
Het |
| Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
| Eef2k |
T |
A |
7: 120,498,594 (GRCm39) |
C91* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,782,283 (GRCm39) |
D1336G |
probably damaging |
Het |
| F12 |
G |
A |
13: 55,569,035 (GRCm39) |
|
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fbxo40 |
A |
T |
16: 36,789,445 (GRCm39) |
L555Q |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,283,698 (GRCm39) |
S840P |
probably damaging |
Het |
| Gadd45a |
C |
T |
6: 67,013,989 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
T |
C |
8: 57,985,658 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Gpr171 |
T |
C |
3: 59,005,506 (GRCm39) |
T90A |
probably damaging |
Het |
| Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
| H2-M10.6 |
T |
A |
17: 37,123,396 (GRCm39) |
I30N |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Hspa4l |
C |
A |
3: 40,739,821 (GRCm39) |
H698Q |
probably benign |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Kdm4a |
C |
T |
4: 118,010,428 (GRCm39) |
R605H |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,119,867 (GRCm39) |
V207E |
probably damaging |
Het |
| Pbp2 |
A |
G |
6: 135,287,143 (GRCm39) |
L68P |
probably benign |
Het |
| Pcnx3 |
G |
T |
19: 5,728,995 (GRCm39) |
T547K |
probably benign |
Het |
| Ppp1r12a |
T |
C |
10: 108,089,362 (GRCm39) |
|
probably benign |
Het |
| Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
| Pudp |
T |
C |
18: 50,701,124 (GRCm39) |
N203S |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,015,717 (GRCm39) |
T737M |
probably damaging |
Het |
| Scn2b |
A |
G |
9: 45,036,759 (GRCm39) |
N89S |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
| Slc13a4 |
C |
A |
6: 35,248,539 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
A |
C |
5: 89,380,698 (GRCm39) |
S1015R |
probably benign |
Het |
| Slc8a1 |
T |
C |
17: 81,955,803 (GRCm39) |
T412A |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,014,075 (GRCm39) |
D2116V |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,727,120 (GRCm39) |
F396L |
probably benign |
Het |
| Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,439 (GRCm39) |
F133I |
possibly damaging |
Het |
| Zfp735 |
T |
C |
11: 73,602,282 (GRCm39) |
S409P |
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 |
|
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'- GCAACCTCAGACACCGGAT -3'
Sequencing Primer
(F):5'- CCTGTTGGCTGTCCCTGG -3'
(R):5'- ACACCGGATGTCTATTTCTTTGAGAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation