Incidental Mutation 'IGL03236:Arhgef37'
| ID |
414067 |
| 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 # |
IGL03236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61624728-61669665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61656897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 56
(I56N)
|
| 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: I56N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130560
Gene: ENSMUSG00000045094
AA Change: I56N
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,246,486 (GRCm39) |
T11A |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,545,450 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
G |
T |
1: 58,349,156 (GRCm39) |
E641* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,338,671 (GRCm39) |
D30E |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,115,887 (GRCm39) |
I181V |
probably benign |
Het |
| Dnai2 |
A |
G |
11: 114,648,075 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,755,300 (GRCm39) |
|
probably benign |
Het |
| Epb41l4a |
G |
A |
18: 33,943,272 (GRCm39) |
S541L |
probably damaging |
Het |
| Ibsp |
A |
C |
5: 104,453,871 (GRCm39) |
N70H |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,657,848 (GRCm39) |
E35G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,415,949 (GRCm39) |
V1623A |
probably damaging |
Het |
| Kpna7 |
A |
T |
5: 144,922,504 (GRCm39) |
V499E |
unknown |
Het |
| Krtap4-16 |
C |
A |
11: 99,741,962 (GRCm39) |
R146L |
unknown |
Het |
| Map2k5 |
T |
A |
9: 63,193,674 (GRCm39) |
|
probably benign |
Het |
| Mfn2 |
A |
G |
4: 147,966,562 (GRCm39) |
F543S |
probably damaging |
Het |
| Mical3 |
A |
G |
6: 120,946,345 (GRCm39) |
L1052P |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,536,134 (GRCm39) |
N272S |
probably damaging |
Het |
| Ndel1 |
A |
G |
11: 68,732,976 (GRCm39) |
Y87H |
probably benign |
Het |
| Ndnf |
G |
A |
6: 65,673,156 (GRCm39) |
V45M |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,444 (GRCm39) |
I281T |
probably benign |
Het |
| Ntm |
A |
G |
9: 29,020,802 (GRCm39) |
V139A |
probably benign |
Het |
| Or5ac23 |
A |
C |
16: 59,149,200 (GRCm39) |
V224G |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,445,222 (GRCm39) |
V3698G |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,188,226 (GRCm39) |
Y773C |
probably damaging |
Het |
| Prkaca |
T |
A |
8: 84,717,074 (GRCm39) |
F138Y |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,616,877 (GRCm39) |
T1312A |
probably benign |
Het |
| Slc47a2 |
T |
C |
11: 61,204,505 (GRCm39) |
E282G |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,698,425 (GRCm39) |
T1117I |
possibly damaging |
Het |
| Utp6 |
A |
G |
11: 79,851,567 (GRCm39) |
|
probably benign |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,990 (GRCm39) |
K14N |
probably damaging |
Het |
| Vmn1r71 |
A |
T |
7: 10,482,211 (GRCm39) |
V93E |
probably benign |
Het |
| Zfp768 |
G |
A |
7: 126,943,142 (GRCm39) |
L329F |
possibly 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 |
|
IGL00801:Arhgef37
|
APN |
18 |
61,632,905 (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 |
|
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 |
2016-08-02 |
Incidental Mutation