Incidental Mutation 'R3024:Arhgef37'
ID |
265786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef37
|
Ensembl Gene |
ENSMUSG00000045094 |
Gene Name |
Rho guanine nucleotide exchange factor 37 |
Synonyms |
4933429F08Rik |
MMRRC Submission |
040540-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R3024 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
61624728-61669665 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61634959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 461
(E461G)
|
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: E461G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130560 Gene: ENSMUSG00000045094 AA Change: E461G
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bfsp1 |
A |
T |
2: 143,687,879 (GRCm39) |
V182D |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
Chil6 |
T |
C |
3: 106,296,086 (GRCm39) |
D383G |
probably damaging |
Het |
Itpr2 |
G |
A |
6: 146,081,808 (GRCm39) |
A175V |
probably benign |
Het |
Kcnh7 |
G |
T |
2: 62,595,007 (GRCm39) |
R688S |
probably damaging |
Het |
Krt6a |
A |
T |
15: 101,599,724 (GRCm39) |
C463S |
probably benign |
Het |
Ksr2 |
T |
A |
5: 117,693,125 (GRCm39) |
I191N |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,833,272 (GRCm39) |
V1698A |
probably benign |
Het |
Or12d13 |
A |
T |
17: 37,647,918 (GRCm39) |
D68E |
probably damaging |
Het |
Or4c127 |
A |
T |
2: 89,833,584 (GRCm39) |
N278I |
probably damaging |
Het |
Pappa2 |
C |
T |
1: 158,763,795 (GRCm39) |
R572Q |
probably benign |
Het |
Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
Phf20 |
A |
G |
2: 156,129,787 (GRCm39) |
H453R |
probably damaging |
Het |
Prex1 |
G |
T |
2: 166,430,956 (GRCm39) |
H615Q |
probably benign |
Het |
Slc25a54 |
T |
A |
3: 108,987,982 (GRCm39) |
I41N |
probably damaging |
Het |
Slc35f5 |
A |
G |
1: 125,496,335 (GRCm39) |
S157G |
probably benign |
Het |
Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
Trim41 |
T |
C |
11: 48,698,985 (GRCm39) |
K420E |
possibly damaging |
Het |
Tsnaxip1 |
A |
G |
8: 106,568,375 (GRCm39) |
Y353C |
probably damaging |
Het |
Vmn1r238 |
T |
C |
18: 3,123,305 (GRCm39) |
I36M |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,147,883 (GRCm39) |
V149D |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 40,966,355 (GRCm39) |
E815K |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGGAAGCTTCAGCACACTG -3'
(R):5'- CTTCCCCTATGGAGAGATGTTTTC -3'
Sequencing Primer
(F):5'- TTGTGCAGGAGAGCGGC -3'
(R):5'- CCCCTATGGAGAGATGTTTTCTTAAC -3'
|
Posted On |
2015-02-05 |