Incidental Mutation 'IGL03027:Arhgef1'
| ID |
408224 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24602337-24626019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24623157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 423
(I423K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047873]
[ENSMUST00000098683]
[ENSMUST00000117419]
[ENSMUST00000117796]
[ENSMUST00000132751]
[ENSMUST00000206508]
[ENSMUST00000205295]
[ENSMUST00000206705]
|
| AlphaFold |
Q61210 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047873
AA Change: I663K
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: I663K
| 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: I722K
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: I722K
| 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: I663K
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: I663K
| 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: I719K
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: I719K
| 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: I423K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940
AA Change: I423K
| 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 |
possibly damaging
Transcript: ENSMUST00000206508
AA Change: I662K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145783
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206705
|
| Coding Region Coverage |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
A |
T |
17: 43,607,605 (GRCm39) |
Y108F |
probably damaging |
Het |
| Afap1 |
T |
C |
5: 36,119,094 (GRCm39) |
I243T |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,216,025 (GRCm39) |
D320G |
probably damaging |
Het |
| Casp9 |
A |
G |
4: 141,539,584 (GRCm39) |
E410G |
probably benign |
Het |
| Ccdc39 |
A |
C |
3: 33,884,267 (GRCm39) |
H358Q |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,249,742 (GRCm39) |
|
probably null |
Het |
| Clip1 |
A |
T |
5: 123,759,919 (GRCm39) |
M935K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,548,833 (GRCm39) |
Y2171H |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,996 (GRCm39) |
N417I |
possibly damaging |
Het |
| Dock3 |
G |
A |
9: 106,870,677 (GRCm39) |
P579L |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,866,164 (GRCm39) |
M1209V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,958,450 (GRCm39) |
T334A |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,225,106 (GRCm39) |
I1171F |
possibly damaging |
Het |
| Eya1 |
G |
T |
1: 14,241,190 (GRCm39) |
H576N |
probably damaging |
Het |
| Fam117a |
A |
G |
11: 95,268,399 (GRCm39) |
T267A |
probably benign |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,205,980 (GRCm39) |
H291R |
probably damaging |
Het |
| Gm7145 |
T |
C |
1: 117,895,417 (GRCm39) |
S27P |
probably benign |
Het |
| Gpt |
C |
T |
15: 76,582,289 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
| Hif1a |
C |
T |
12: 73,987,251 (GRCm39) |
P448L |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,684,290 (GRCm39) |
V427I |
probably benign |
Het |
| Ipo8 |
C |
A |
6: 148,678,737 (GRCm39) |
V954L |
probably benign |
Het |
| Kdm5a |
G |
T |
6: 120,351,951 (GRCm39) |
|
probably null |
Het |
| Klhl36 |
T |
A |
8: 120,603,229 (GRCm39) |
S495T |
probably benign |
Het |
| Lpar5 |
T |
A |
6: 125,059,203 (GRCm39) |
L308Q |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,367,897 (GRCm39) |
D205A |
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,063,057 (GRCm39) |
I83T |
probably benign |
Het |
| Mapk8ip2 |
A |
T |
15: 89,342,310 (GRCm39) |
D507V |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,355,501 (GRCm39) |
|
probably benign |
Het |
| Myef2 |
T |
A |
2: 124,930,954 (GRCm39) |
H539L |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,007 (GRCm39) |
E972G |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,359,524 (GRCm39) |
Y571H |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,538,207 (GRCm39) |
N478I |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,780 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,130,627 (GRCm39) |
Q89L |
probably benign |
Het |
| Ppard |
C |
A |
17: 28,518,765 (GRCm39) |
T422K |
possibly damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,796,830 (GRCm39) |
Y904* |
probably null |
Het |
| Ptx4 |
T |
A |
17: 25,344,022 (GRCm39) |
I424K |
possibly damaging |
Het |
| Rab19 |
A |
G |
6: 39,360,927 (GRCm39) |
D25G |
probably damaging |
Het |
| Rbl2 |
T |
A |
8: 91,805,534 (GRCm39) |
I197N |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,997,814 (GRCm39) |
D273G |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,313,601 (GRCm39) |
R1920C |
probably benign |
Het |
| Sec23b |
A |
T |
2: 144,429,465 (GRCm39) |
N731I |
possibly damaging |
Het |
| Serpinb9d |
G |
A |
13: 33,386,698 (GRCm39) |
W255* |
probably null |
Het |
| Sim2 |
G |
A |
16: 93,910,351 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,920,167 (GRCm39) |
|
probably null |
Het |
| Tmem176b |
C |
T |
6: 48,812,573 (GRCm39) |
A131T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,348,494 (GRCm39) |
V332D |
probably damaging |
Het |
| Trgc1 |
G |
T |
13: 19,398,563 (GRCm39) |
G97* |
probably null |
Het |
| Tuba3b |
T |
A |
6: 145,565,117 (GRCm39) |
L195Q |
probably damaging |
Het |
| Ubc |
A |
T |
5: 125,464,565 (GRCm39) |
V254D |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,465,734 (GRCm39) |
P239T |
probably damaging |
Het |
| Vars1 |
G |
T |
17: 35,232,663 (GRCm39) |
M862I |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,777 (GRCm39) |
|
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,188,824 (GRCm39) |
A720V |
probably damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,519,820 (GRCm39) |
R314Q |
probably 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 |
|
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 |
|
R9676:Arhgef1
|
UTSW |
7 |
24,625,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation