Incidental Mutation 'BB019:Arhgef1'
ID |
643060 |
Institutional Source |
Beutler Lab
|
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 # |
BB019
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24602337-24626019 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24619135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 459
(L459F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047873]
[ENSMUST00000098683]
[ENSMUST00000117419]
[ENSMUST00000117796]
[ENSMUST00000132751]
[ENSMUST00000205295]
[ENSMUST00000206508]
|
AlphaFold |
Q61210 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047873
AA Change: L400F
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000046469 Gene: ENSMUSG00000040940 AA Change: L400F
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: L459F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096280 Gene: ENSMUSG00000040940 AA Change: L459F
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 damaging
Transcript: ENSMUST00000117419
AA Change: L400F
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113366 Gene: ENSMUSG00000040940 AA Change: L400F
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: L456F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113771 Gene: ENSMUSG00000040940 AA Change: L456F
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: L160F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117008 Gene: ENSMUSG00000040940 AA Change: L160F
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 damaging
Transcript: ENSMUST00000206508
AA Change: L399F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
A |
G |
2: 155,415,100 (GRCm39) |
R666G |
unknown |
Het |
Adam21 |
T |
A |
12: 81,606,938 (GRCm39) |
N275Y |
probably damaging |
Het |
Arhgap24 |
A |
T |
5: 102,993,835 (GRCm39) |
|
probably benign |
Het |
Bbx |
A |
T |
16: 50,030,806 (GRCm39) |
|
probably null |
Het |
Blk |
C |
T |
14: 63,611,008 (GRCm39) |
G445S |
possibly damaging |
Het |
Brca1 |
T |
C |
11: 101,430,843 (GRCm39) |
E33G |
possibly damaging |
Het |
Cacna1s |
T |
G |
1: 136,012,097 (GRCm39) |
L513R |
probably damaging |
Het |
Cnn3 |
T |
A |
3: 121,245,078 (GRCm39) |
M98K |
probably benign |
Het |
Cttnbp2 |
T |
A |
6: 18,427,532 (GRCm39) |
L716F |
probably damaging |
Het |
Dlgap1 |
A |
T |
17: 70,823,233 (GRCm39) |
R73W |
probably damaging |
Het |
Dnajc4 |
A |
G |
19: 6,965,638 (GRCm39) |
L182P |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,217,998 (GRCm39) |
M1191V |
probably benign |
Het |
Fam13a |
C |
T |
6: 58,960,873 (GRCm39) |
|
probably null |
Het |
Fbn2 |
C |
T |
18: 58,153,555 (GRCm39) |
G2569E |
possibly damaging |
Het |
Fes |
T |
C |
7: 80,029,620 (GRCm39) |
I623V |
probably damaging |
Het |
Fyco1 |
A |
C |
9: 123,658,055 (GRCm39) |
L707R |
possibly damaging |
Het |
Gadd45b |
T |
A |
10: 80,766,169 (GRCm39) |
V7E |
possibly damaging |
Het |
Gm19410 |
T |
A |
8: 36,262,753 (GRCm39) |
C897S |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,151,299 (GRCm39) |
L31P |
probably damaging |
Het |
Hoxa4 |
T |
G |
6: 52,167,397 (GRCm39) |
K261N |
probably damaging |
Het |
Hrh4 |
T |
A |
18: 13,148,869 (GRCm39) |
L77* |
probably null |
Het |
Igf1r |
A |
T |
7: 67,861,802 (GRCm39) |
I1121F |
possibly damaging |
Het |
Igkv16-104 |
A |
T |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
Itk |
A |
T |
11: 46,231,519 (GRCm39) |
W346R |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,369,184 (GRCm39) |
S1144P |
probably damaging |
Het |
Krt86 |
A |
T |
15: 101,374,473 (GRCm39) |
S289C |
probably damaging |
Het |
Lonrf1 |
T |
C |
8: 36,690,070 (GRCm39) |
I663V |
probably benign |
Het |
Lrp2 |
T |
G |
2: 69,256,371 (GRCm39) |
I4590L |
probably benign |
Het |
Lrrc8d |
C |
T |
5: 105,960,891 (GRCm39) |
R434C |
probably damaging |
Het |
Maneal |
T |
C |
4: 124,755,638 (GRCm39) |
Y108C |
probably damaging |
Het |
Myh8 |
G |
A |
11: 67,185,430 (GRCm39) |
V894I |
probably benign |
Het |
Ncam2 |
T |
G |
16: 81,412,708 (GRCm39) |
L732R |
probably damaging |
Het |
Nsun4 |
A |
T |
4: 115,901,997 (GRCm39) |
D156E |
probably damaging |
Het |
Or10z1 |
T |
C |
1: 174,078,260 (GRCm39) |
I78V |
probably benign |
Het |
Or1e23 |
A |
C |
11: 73,407,983 (GRCm39) |
L14R |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,146 (GRCm39) |
I33L |
probably benign |
Het |
Or5b106 |
A |
T |
19: 13,123,345 (GRCm39) |
M226K |
probably benign |
Het |
Or5v1b |
T |
C |
17: 37,841,075 (GRCm39) |
I69T |
probably benign |
Het |
Or6c66 |
C |
A |
10: 129,461,094 (GRCm39) |
V279F |
probably damaging |
Het |
P2rx7 |
G |
A |
5: 122,782,245 (GRCm39) |
V37I |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,481,359 (GRCm39) |
R235G |
probably benign |
Het |
Pcdhga1 |
T |
C |
18: 37,796,513 (GRCm39) |
S506P |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,845,435 (GRCm39) |
|
probably null |
Het |
Plch1 |
A |
G |
3: 63,609,402 (GRCm39) |
V935A |
probably benign |
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Prpf8 |
A |
G |
11: 75,383,423 (GRCm39) |
D607G |
possibly damaging |
Het |
Ptdss1 |
T |
C |
13: 67,114,496 (GRCm39) |
W215R |
probably damaging |
Het |
Ptpn9 |
C |
A |
9: 56,943,900 (GRCm39) |
P258Q |
possibly damaging |
Het |
Rfpl4b |
A |
G |
10: 38,697,346 (GRCm39) |
V85A |
possibly damaging |
Het |
Sacs |
C |
A |
14: 61,442,327 (GRCm39) |
Q1458K |
probably damaging |
Het |
Scfd2 |
A |
T |
5: 74,692,211 (GRCm39) |
S24T |
probably benign |
Het |
Siae |
A |
G |
9: 37,544,980 (GRCm39) |
D325G |
probably benign |
Het |
Slc22a23 |
C |
A |
13: 34,366,960 (GRCm39) |
A683S |
probably damaging |
Het |
Slc44a3 |
A |
T |
3: 121,306,009 (GRCm39) |
I244N |
possibly damaging |
Het |
Srrm2 |
T |
A |
17: 24,037,501 (GRCm39) |
S1382T |
probably benign |
Het |
Tfap2c |
A |
G |
2: 172,393,706 (GRCm39) |
Y207C |
probably damaging |
Het |
Timd5 |
C |
A |
11: 46,426,366 (GRCm39) |
P158T |
probably benign |
Het |
Tnc |
T |
C |
4: 63,926,857 (GRCm39) |
I890V |
probably benign |
Het |
Trim30a |
A |
T |
7: 104,078,545 (GRCm39) |
I177N |
probably benign |
Het |
Tshz2 |
T |
A |
2: 169,728,251 (GRCm39) |
M949K |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,555,530 (GRCm39) |
T30492P |
probably damaging |
Het |
Ubb |
C |
T |
11: 62,443,611 (GRCm39) |
Q214* |
probably null |
Het |
Ulk2 |
A |
G |
11: 61,698,916 (GRCm39) |
S423P |
probably benign |
Het |
Vmn1r237 |
C |
A |
17: 21,534,725 (GRCm39) |
D149E |
probably benign |
Het |
Zbtb24 |
A |
G |
10: 41,327,504 (GRCm39) |
D130G |
probably benign |
Het |
Zfp689 |
C |
A |
7: 127,043,523 (GRCm39) |
G369V |
probably damaging |
Het |
Zg16 |
A |
G |
7: 126,649,577 (GRCm39) |
F128S |
probably damaging |
Het |
Zmym1 |
T |
G |
4: 126,944,578 (GRCm39) |
N203T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGCGTCAAATGTCAAGGC -3'
(R):5'- ACTTGGCTTACTCACACTGGG -3'
Sequencing Primer
(F):5'- GCCACAGAGGGCTTGTAAC -3'
(R):5'- GGGTCTGTTCCACAGCCTATG -3'
|
Posted On |
2020-08-01 |