Incidental Mutation 'R9553:Arhgef1'
| ID |
720608 |
| 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 # |
R9553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24602337-24626019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24619115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 452
(E452G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047873]
[ENSMUST00000098683]
[ENSMUST00000117419]
[ENSMUST00000117796]
[ENSMUST00000132751]
[ENSMUST00000205295]
[ENSMUST00000206508]
|
| AlphaFold |
Q61210 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047873
AA Change: E393G
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: E393G
| 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: E452G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: E452G
| 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 |
possibly damaging
Transcript: ENSMUST00000117419
AA Change: E393G
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: E393G
| 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: E449G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: E449G
| 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: E153G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940
AA Change: E153G
| 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: E392G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
C |
T |
7: 43,900,334 (GRCm39) |
R80W |
probably damaging |
Het |
| Ankdd1b |
G |
T |
13: 96,591,294 (GRCm39) |
N68K |
possibly damaging |
Het |
| Cbx8 |
T |
G |
11: 118,930,964 (GRCm39) |
E45D |
probably damaging |
Het |
| Ceacam15 |
T |
C |
7: 16,407,316 (GRCm39) |
Y67C |
probably damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,723,926 (GRCm39) |
Y570C |
probably damaging |
Het |
| Cnga4 |
A |
G |
7: 105,054,977 (GRCm39) |
Y187C |
probably damaging |
Het |
| Cntrob |
T |
C |
11: 69,205,679 (GRCm39) |
N385S |
probably benign |
Het |
| Coro7 |
A |
G |
16: 4,486,624 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,264,956 (GRCm39) |
Y2150C |
probably damaging |
Het |
| E2f8 |
A |
G |
7: 48,528,394 (GRCm39) |
S25P |
probably damaging |
Het |
| Eif1ad7 |
A |
G |
12: 88,238,476 (GRCm39) |
Y95H |
probably damaging |
Het |
| Eif3d |
T |
C |
15: 77,843,837 (GRCm39) |
E503G |
probably damaging |
Het |
| Elp6 |
T |
A |
9: 110,144,965 (GRCm39) |
V157D |
probably damaging |
Het |
| Entpd3 |
T |
C |
9: 120,387,546 (GRCm39) |
Y248H |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,844,561 (GRCm39) |
E561G |
unknown |
Het |
| Fbxl13 |
C |
T |
5: 21,728,151 (GRCm39) |
G519S |
probably damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,309,228 (GRCm39) |
S422A |
probably damaging |
Het |
| Flg2 |
G |
A |
3: 93,121,901 (GRCm39) |
C1357Y |
unknown |
Het |
| Fpr3 |
T |
A |
17: 18,191,612 (GRCm39) |
N294K |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,525,048 (GRCm39) |
Q312R |
possibly damaging |
Het |
| Glg1 |
C |
T |
8: 111,926,770 (GRCm39) |
E182K |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,087 (GRCm39) |
D374G |
probably damaging |
Het |
| Ifrd2 |
C |
T |
9: 107,468,285 (GRCm39) |
T251I |
possibly damaging |
Het |
| Igkv4-91 |
C |
T |
6: 68,745,632 (GRCm39) |
G89R |
possibly damaging |
Het |
| Kcnk1 |
C |
A |
8: 126,756,322 (GRCm39) |
Y281* |
probably null |
Het |
| Kcp |
G |
T |
6: 29,485,100 (GRCm39) |
F1217L |
probably null |
Het |
| Lama3 |
G |
A |
18: 12,563,019 (GRCm39) |
G514D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,008,800 (GRCm39) |
L34P |
probably damaging |
Het |
| Mak |
T |
A |
13: 41,183,595 (GRCm39) |
T562S |
probably benign |
Het |
| Nfatc4 |
A |
G |
14: 56,070,259 (GRCm39) |
E879G |
probably damaging |
Het |
| Or5w14 |
A |
T |
2: 87,541,992 (GRCm39) |
V86E |
probably benign |
Het |
| Pcdhb19 |
C |
T |
18: 37,631,848 (GRCm39) |
R548C |
probably damaging |
Het |
| Peli2 |
A |
G |
14: 48,488,150 (GRCm39) |
I165V |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,753,977 (GRCm39) |
M148L |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,637,014 (GRCm39) |
G172R |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,928,310 (GRCm39) |
V537A |
probably damaging |
Het |
| Rnf135 |
T |
A |
11: 80,074,758 (GRCm39) |
S6T |
probably benign |
Het |
| Sirpb1a |
C |
T |
3: 15,476,320 (GRCm39) |
C226Y |
probably damaging |
Het |
| Speg |
A |
C |
1: 75,394,645 (GRCm39) |
I1785L |
probably benign |
Het |
| Spry4 |
T |
C |
18: 38,723,070 (GRCm39) |
N231S |
probably damaging |
Het |
| Tchh |
C |
T |
3: 93,355,125 (GRCm39) |
Q1522* |
probably null |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Trav7d-3 |
G |
T |
14: 52,981,820 (GRCm39) |
|
probably benign |
Het |
| Vmn2r49 |
A |
C |
7: 9,720,849 (GRCm39) |
V214G |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,743 (GRCm39) |
Y32H |
probably benign |
Het |
| Vwf |
A |
C |
6: 125,577,662 (GRCm39) |
D501A |
|
Het |
| Zfp428 |
A |
G |
7: 24,214,866 (GRCm39) |
T161A |
possibly damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
R9676:Arhgef1
|
UTSW |
7 |
24,625,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTGCAGTCTAGAGACCTG -3'
(R):5'- TGTTCCACAGCCTATGCACC -3'
Sequencing Primer
(F):5'- TGCAGTCTAGAGACCTGGGGAG -3'
(R):5'- CCCAGCTGCTTCTGTTGGAAAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation