Incidental Mutation 'IGL01146:Arhgef37'
| ID |
53208 |
| 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: 0.127)
|
| Stock # |
IGL01146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61624728-61669665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61651081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 148
(I148N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171629]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171629
AA Change: I148N
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130560
Gene: ENSMUSG00000045094
AA Change: I148N
| 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 |
|---|
| 1810009J06Rik |
T |
C |
6: 40,943,217 (GRCm39) |
I54T |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,403,957 (GRCm39) |
V701A |
possibly damaging |
Het |
| Adam6a |
A |
T |
12: 113,507,840 (GRCm39) |
Y71F |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,901 (GRCm39) |
S282P |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,403,220 (GRCm39) |
Q257L |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,271,770 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,700,144 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,797,749 (GRCm39) |
E274G |
probably damaging |
Het |
| Cdc34b |
G |
T |
11: 94,633,420 (GRCm39) |
D207Y |
probably benign |
Het |
| Chst5 |
C |
T |
8: 112,617,314 (GRCm39) |
C102Y |
probably damaging |
Het |
| Cnbd2 |
T |
A |
2: 156,154,534 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,612,591 (GRCm39) |
|
probably null |
Het |
| Dnm1l |
T |
C |
16: 16,132,189 (GRCm39) |
D549G |
probably benign |
Het |
| Gm4847 |
T |
A |
1: 166,462,521 (GRCm39) |
D323V |
probably damaging |
Het |
| Gm9843 |
G |
A |
16: 76,200,255 (GRCm39) |
|
noncoding transcript |
Het |
| Gopc |
A |
G |
10: 52,234,963 (GRCm39) |
V120A |
probably benign |
Het |
| Kmt2c |
T |
G |
5: 25,513,510 (GRCm39) |
M3095L |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,783,615 (GRCm39) |
E629G |
possibly damaging |
Het |
| Pde4b |
T |
A |
4: 102,112,460 (GRCm39) |
S12T |
possibly damaging |
Het |
| Phf2 |
A |
T |
13: 48,973,083 (GRCm39) |
L391Q |
unknown |
Het |
| Phf8-ps |
A |
G |
17: 33,284,357 (GRCm39) |
L815S |
possibly damaging |
Het |
| Plekha7 |
G |
A |
7: 115,756,708 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
A |
5: 21,945,476 (GRCm39) |
|
probably benign |
Het |
| Poc1a |
T |
C |
9: 106,182,503 (GRCm39) |
Y285H |
probably benign |
Het |
| Polr1e |
T |
C |
4: 45,031,369 (GRCm39) |
L387S |
probably damaging |
Het |
| Prr9 |
A |
T |
3: 92,030,504 (GRCm39) |
C45* |
probably null |
Het |
| Rnf157 |
T |
C |
11: 116,240,912 (GRCm39) |
H393R |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,808,496 (GRCm39) |
F554L |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,576,275 (GRCm39) |
S861P |
probably damaging |
Het |
| Sh3tc2 |
G |
T |
18: 62,122,582 (GRCm39) |
D448Y |
probably damaging |
Het |
| Smg6 |
T |
G |
11: 74,821,254 (GRCm39) |
Y508* |
probably null |
Het |
| Sult6b2 |
C |
T |
6: 142,750,034 (GRCm39) |
G28D |
probably benign |
Het |
| Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
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 |
|
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 |
2013-06-21 |
Incidental Mutation