Incidental Mutation 'IGL00801:Arhgef37'
ID |
9036 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgef37
|
Ensembl Gene |
ENSMUSG00000045094 |
Gene Name |
Rho guanine nucleotide exchange factor 37 |
Synonyms |
4933429F08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
IGL00801
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
61624728-61669665 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61632905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 511
(Y511H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171629]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171629
AA Change: Y511H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130560 Gene: ENSMUSG00000045094 AA Change: Y511H
Domain | Start | End | E-Value | Type |
RhoGEF
|
34 |
212 |
2.62e-35 |
SMART |
Pfam:BAR
|
311 |
444 |
5.6e-10 |
PFAM |
SH3
|
509 |
568 |
8.06e-1 |
SMART |
SH3
|
606 |
665 |
2.56e-14 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
T |
C |
12: 72,928,160 (GRCm39) |
T524A |
possibly damaging |
Het |
Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
Atxn3 |
A |
G |
12: 101,892,767 (GRCm39) |
S316P |
possibly damaging |
Het |
B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
Ccn1 |
T |
A |
3: 145,354,365 (GRCm39) |
D182V |
probably damaging |
Het |
Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
Gabra5 |
C |
A |
7: 57,138,736 (GRCm39) |
W104L |
probably damaging |
Het |
Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
Hnf1b |
C |
T |
11: 83,746,750 (GRCm39) |
A122V |
probably damaging |
Het |
Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
Nudt5 |
T |
C |
2: 5,871,168 (GRCm39) |
F166S |
probably damaging |
Het |
Ociad1 |
T |
A |
5: 73,461,909 (GRCm39) |
Y87N |
probably damaging |
Het |
Qtrt2 |
T |
C |
16: 43,701,552 (GRCm39) |
K3E |
probably damaging |
Het |
Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
Tmem198b |
A |
C |
10: 128,639,014 (GRCm39) |
L43R |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
Other mutations in Arhgef37 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00485:Arhgef37
|
APN |
18 |
61,656,942 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01146:Arhgef37
|
APN |
18 |
61,651,081 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02052:Arhgef37
|
APN |
18 |
61,632,839 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02489:Arhgef37
|
APN |
18 |
61,639,540 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03236:Arhgef37
|
APN |
18 |
61,656,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R0715:Arhgef37
|
UTSW |
18 |
61,641,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R0746:Arhgef37
|
UTSW |
18 |
61,651,064 (GRCm39) |
critical splice donor site |
probably null |
|
R1843:Arhgef37
|
UTSW |
18 |
61,651,121 (GRCm39) |
missense |
probably damaging |
0.99 |
R1934:Arhgef37
|
UTSW |
18 |
61,657,014 (GRCm39) |
missense |
probably benign |
0.00 |
R1980:Arhgef37
|
UTSW |
18 |
61,641,767 (GRCm39) |
missense |
probably damaging |
0.98 |
R2012:Arhgef37
|
UTSW |
18 |
61,637,427 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2237:Arhgef37
|
UTSW |
18 |
61,637,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R3024:Arhgef37
|
UTSW |
18 |
61,634,959 (GRCm39) |
missense |
probably damaging |
0.96 |
R4864:Arhgef37
|
UTSW |
18 |
61,627,996 (GRCm39) |
missense |
probably benign |
|
R4876:Arhgef37
|
UTSW |
18 |
61,631,310 (GRCm39) |
nonsense |
probably null |
|
R5024:Arhgef37
|
UTSW |
18 |
61,639,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R5050:Arhgef37
|
UTSW |
18 |
61,637,402 (GRCm39) |
missense |
probably benign |
0.43 |
R5512:Arhgef37
|
UTSW |
18 |
61,632,845 (GRCm39) |
nonsense |
probably null |
|
R5611:Arhgef37
|
UTSW |
18 |
61,640,334 (GRCm39) |
missense |
probably benign |
0.03 |
R6051:Arhgef37
|
UTSW |
18 |
61,640,345 (GRCm39) |
missense |
probably damaging |
0.97 |
R6488:Arhgef37
|
UTSW |
18 |
61,651,123 (GRCm39) |
missense |
probably benign |
0.43 |
R6612:Arhgef37
|
UTSW |
18 |
61,627,952 (GRCm39) |
missense |
probably benign |
|
R7117:Arhgef37
|
UTSW |
18 |
61,637,481 (GRCm39) |
missense |
probably benign |
0.00 |
R7351:Arhgef37
|
UTSW |
18 |
61,631,286 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7426:Arhgef37
|
UTSW |
18 |
61,637,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R7571:Arhgef37
|
UTSW |
18 |
61,637,403 (GRCm39) |
missense |
probably damaging |
0.97 |
R7992:Arhgef37
|
UTSW |
18 |
61,638,827 (GRCm39) |
missense |
probably benign |
0.03 |
R8493:Arhgef37
|
UTSW |
18 |
61,640,277 (GRCm39) |
missense |
probably benign |
0.03 |
R8936:Arhgef37
|
UTSW |
18 |
61,656,948 (GRCm39) |
missense |
probably damaging |
0.98 |
R9000:Arhgef37
|
UTSW |
18 |
61,637,333 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9053:Arhgef37
|
UTSW |
18 |
61,641,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R9298:Arhgef37
|
UTSW |
18 |
61,651,072 (GRCm39) |
missense |
probably damaging |
0.98 |
R9490:Arhgef37
|
UTSW |
18 |
61,641,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R9559:Arhgef37
|
UTSW |
18 |
61,640,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2012-12-06 |