Incidental Mutation 'R9676:Arhgef1'
ID |
728341 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef1
|
Ensembl Gene |
ENSMUSG00000040940 |
Gene Name |
Rho guanine nucleotide exchange factor 1 |
Synonyms |
Lbcl2, Lsc |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.389)
|
Stock # |
R9676 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24602337-24626019 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24625501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 961
(G961E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096280
(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: G902E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000046469 Gene: ENSMUSG00000040940 AA Change: G902E
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: G961E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000096280 Gene: ENSMUSG00000040940 AA Change: G961E
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: G902E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000113366 Gene: ENSMUSG00000040940 AA Change: G902E
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: G958E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113771 Gene: ENSMUSG00000040940 AA Change: G958E
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 |
silent
Transcript: ENSMUST00000132751
|
SMART Domains |
Protein: ENSMUSP00000117008 Gene: ENSMUSG00000040940
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: G901E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206705
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,207,905 (GRCm39) |
S534P |
possibly damaging |
Het |
Abcb1a |
A |
T |
5: 8,714,548 (GRCm39) |
K23I |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,769,122 (GRCm39) |
D644G |
probably benign |
Het |
Ciart |
A |
G |
3: 95,786,214 (GRCm39) |
V287A |
probably benign |
Het |
Cldn10 |
G |
T |
14: 119,025,677 (GRCm39) |
V37L |
probably damaging |
Het |
Clec16a |
C |
A |
16: 10,559,823 (GRCm39) |
T1032K |
probably benign |
Het |
Crhbp |
A |
T |
13: 95,578,711 (GRCm39) |
Y144N |
probably damaging |
Het |
Ddn |
A |
T |
15: 98,703,252 (GRCm39) |
I680N |
possibly damaging |
Het |
Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
Dock4 |
CCGGTG |
CCGGTGACGGTG |
12: 40,894,401 (GRCm39) |
|
probably benign |
Het |
Dock4 |
GGTGCC |
GGTGCCTGTGCC |
12: 40,894,397 (GRCm39) |
|
probably benign |
Het |
Dock4 |
TGCCGG |
TGCCGGGGCCGG |
12: 40,894,387 (GRCm39) |
|
probably benign |
Het |
Dock7 |
T |
C |
4: 98,904,922 (GRCm39) |
Y651C |
probably damaging |
Het |
Ecel1 |
A |
T |
1: 87,079,743 (GRCm39) |
F457I |
probably damaging |
Het |
Eif4h |
G |
A |
5: 134,668,242 (GRCm39) |
|
probably benign |
Het |
Focad |
T |
C |
4: 88,273,682 (GRCm39) |
V1073A |
unknown |
Het |
Gm9195 |
G |
A |
14: 72,709,667 (GRCm39) |
P482S |
unknown |
Het |
Ifi206 |
G |
A |
1: 173,308,718 (GRCm39) |
T426I |
|
Het |
Irag2 |
T |
G |
6: 145,120,338 (GRCm39) |
W518G |
probably damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lpar3 |
T |
C |
3: 145,990,434 (GRCm39) |
C251R |
probably damaging |
Het |
Lrrn4cl |
A |
G |
19: 8,829,496 (GRCm39) |
D158G |
probably benign |
Het |
Myo5b |
T |
A |
18: 74,892,231 (GRCm39) |
N1632K |
probably benign |
Het |
Neb |
T |
C |
2: 52,060,558 (GRCm39) |
K6275E |
possibly damaging |
Het |
Niban2 |
G |
A |
2: 32,802,581 (GRCm39) |
V191I |
probably benign |
Het |
Or1j10 |
A |
G |
2: 36,266,848 (GRCm39) |
E20G |
probably benign |
Het |
Or2t47 |
T |
A |
11: 58,442,253 (GRCm39) |
M271L |
probably benign |
Het |
Or4a70 |
A |
T |
2: 89,323,780 (GRCm39) |
M292K |
probably damaging |
Het |
Phactr3 |
G |
T |
2: 177,925,837 (GRCm39) |
E371* |
probably null |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Plagl1 |
T |
C |
10: 13,003,955 (GRCm39) |
Y408H |
unknown |
Het |
Pole |
A |
G |
5: 110,443,431 (GRCm39) |
Q385R |
probably benign |
Het |
Rps15a |
A |
T |
7: 117,714,361 (GRCm39) |
V35D |
probably benign |
Het |
Sh3rf2 |
C |
T |
18: 42,282,860 (GRCm39) |
P505S |
probably benign |
Het |
Srrm4 |
T |
C |
5: 116,584,781 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
G |
T |
7: 96,544,638 (GRCm39) |
R2255L |
probably damaging |
Het |
Ttc29 |
A |
G |
8: 79,060,384 (GRCm39) |
T435A |
probably benign |
Het |
Vmn2r79 |
T |
C |
7: 86,686,452 (GRCm39) |
V611A |
probably damaging |
Het |
Zfp568 |
T |
C |
7: 29,721,823 (GRCm39) |
V256A |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,330,959 (GRCm39) |
K420R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTAAGCACTGAGGAAGAC -3'
(R):5'- CTTCATGAAAGGCCTGAGGG -3'
Sequencing Primer
(F):5'- CAGTGCACACCCAGGAGATTG -3'
(R):5'- GCCTGAGGGTAACAGACAC -3'
|
Posted On |
2022-10-06 |