Incidental Mutation 'R0764:Gm43302'
ID |
72545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm43302
|
Ensembl Gene |
ENSMUSG00000079362 |
Gene Name |
predicted gene 43302 |
Synonyms |
|
MMRRC Submission |
038944-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R0764 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105362773-105441561 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105428355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 130
(I130F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050011]
[ENSMUST00000196520]
[ENSMUST00000200045]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050011
AA Change: I130F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000062528 Gene: ENSMUSG00000079362 AA Change: I130F
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
279 |
7.6e-118 |
PFAM |
Pfam:GBP_C
|
281 |
575 |
2.1e-117 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196520
AA Change: I130F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142518 Gene: ENSMUSG00000104713 AA Change: I130F
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
279 |
2.8e-124 |
PFAM |
Pfam:GBP_C
|
281 |
575 |
2.1e-117 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199944
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200045
|
SMART Domains |
Protein: ENSMUSP00000142994 Gene: ENSMUSG00000104713
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
62 |
7.4e-19 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.1%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,950,772 (GRCm39) |
Y898N |
probably damaging |
Het |
Acp4 |
T |
C |
7: 43,901,738 (GRCm39) |
|
probably benign |
Het |
Adipor2 |
T |
C |
6: 119,334,215 (GRCm39) |
I332V |
probably benign |
Het |
Ago3 |
T |
A |
4: 126,248,885 (GRCm39) |
K555N |
possibly damaging |
Het |
Angpt4 |
A |
G |
2: 151,753,204 (GRCm39) |
|
probably benign |
Het |
Ano5 |
G |
T |
7: 51,187,590 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
C |
T |
13: 94,616,387 (GRCm39) |
|
probably benign |
Het |
Cbl |
A |
T |
9: 44,075,449 (GRCm39) |
C399S |
probably damaging |
Het |
Cdkl2 |
C |
A |
5: 92,168,136 (GRCm39) |
V353L |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,705,017 (GRCm39) |
Y500C |
probably damaging |
Het |
Cep162 |
A |
G |
9: 87,083,798 (GRCm39) |
S1242P |
probably damaging |
Het |
Crhr1 |
C |
T |
11: 104,050,152 (GRCm39) |
R66W |
probably damaging |
Het |
Ddx49 |
T |
C |
8: 70,749,907 (GRCm39) |
E170G |
probably benign |
Het |
Fam193a |
T |
C |
5: 34,600,685 (GRCm39) |
F305L |
probably damaging |
Het |
Fam76a |
C |
T |
4: 132,638,010 (GRCm39) |
G198R |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,424,832 (GRCm39) |
I745N |
possibly damaging |
Het |
Ina |
T |
A |
19: 47,012,087 (GRCm39) |
*502K |
probably null |
Het |
Kdm1b |
A |
T |
13: 47,222,079 (GRCm39) |
D506V |
possibly damaging |
Het |
Lrrk2 |
A |
G |
15: 91,659,249 (GRCm39) |
|
probably null |
Het |
Ly6g2 |
T |
A |
15: 75,092,572 (GRCm39) |
F97Y |
probably benign |
Het |
Naip5 |
A |
T |
13: 100,353,613 (GRCm39) |
D1215E |
probably benign |
Het |
Neb |
A |
G |
2: 52,106,879 (GRCm39) |
|
probably benign |
Het |
Nectin2 |
T |
A |
7: 19,483,096 (GRCm39) |
|
probably null |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or2aj5 |
G |
T |
16: 19,425,182 (GRCm39) |
P79T |
probably damaging |
Het |
Or4a71 |
A |
G |
2: 89,358,340 (GRCm39) |
V138A |
probably benign |
Het |
Osbp |
A |
G |
19: 11,961,520 (GRCm39) |
|
probably benign |
Het |
Otog |
A |
G |
7: 45,949,918 (GRCm39) |
D2460G |
probably benign |
Het |
Pcgf1 |
T |
C |
6: 83,056,150 (GRCm39) |
C2R |
probably damaging |
Het |
Per2 |
C |
T |
1: 91,357,142 (GRCm39) |
V674M |
probably damaging |
Het |
Pias3 |
C |
T |
3: 96,608,611 (GRCm39) |
P218S |
probably damaging |
Het |
Plod3 |
C |
T |
5: 137,018,437 (GRCm39) |
|
probably benign |
Het |
Purb |
C |
T |
11: 6,425,661 (GRCm39) |
V76M |
probably damaging |
Het |
Ranbp1 |
C |
A |
16: 18,058,022 (GRCm39) |
E181* |
probably null |
Het |
Rit2 |
T |
C |
18: 31,286,754 (GRCm39) |
|
probably benign |
Het |
Rnf103 |
C |
A |
6: 71,486,566 (GRCm39) |
T399K |
probably damaging |
Het |
Slc22a13 |
T |
C |
9: 119,037,746 (GRCm39) |
|
probably null |
Het |
Slc35f4 |
T |
A |
14: 49,543,796 (GRCm39) |
|
probably benign |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tnfrsf17 |
C |
T |
16: 11,133,063 (GRCm39) |
T47M |
possibly damaging |
Het |
Tram1 |
A |
G |
1: 13,649,933 (GRCm39) |
I97T |
probably damaging |
Het |
Ttc38 |
T |
C |
15: 85,730,604 (GRCm39) |
|
probably benign |
Het |
Zfp113 |
T |
A |
5: 138,143,506 (GRCm39) |
Q248L |
probably damaging |
Het |
|
Other mutations in Gm43302 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0033:Gm43302
|
UTSW |
5 |
105,424,710 (GRCm39) |
missense |
probably benign |
0.12 |
R0066:Gm43302
|
UTSW |
5 |
105,438,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R1400:Gm43302
|
UTSW |
5 |
105,422,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R1421:Gm43302
|
UTSW |
5 |
105,365,215 (GRCm39) |
missense |
probably benign |
|
R1539:Gm43302
|
UTSW |
5 |
105,422,635 (GRCm39) |
missense |
probably benign |
0.02 |
R1774:Gm43302
|
UTSW |
5 |
105,423,660 (GRCm39) |
missense |
probably benign |
0.01 |
R1842:Gm43302
|
UTSW |
5 |
105,425,602 (GRCm39) |
missense |
probably benign |
0.01 |
R2011:Gm43302
|
UTSW |
5 |
105,438,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R2131:Gm43302
|
UTSW |
5 |
105,422,610 (GRCm39) |
missense |
probably damaging |
0.99 |
R2174:Gm43302
|
UTSW |
5 |
105,422,216 (GRCm39) |
missense |
probably benign |
0.12 |
R3687:Gm43302
|
UTSW |
5 |
105,428,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R5322:Gm43302
|
UTSW |
5 |
105,365,347 (GRCm39) |
missense |
probably benign |
0.00 |
R5396:Gm43302
|
UTSW |
5 |
105,427,955 (GRCm39) |
nonsense |
probably null |
|
R5668:Gm43302
|
UTSW |
5 |
105,423,678 (GRCm39) |
missense |
probably benign |
|
R5723:Gm43302
|
UTSW |
5 |
105,365,352 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6073:Gm43302
|
UTSW |
5 |
105,438,825 (GRCm39) |
missense |
probably damaging |
0.96 |
R6159:Gm43302
|
UTSW |
5 |
105,436,894 (GRCm39) |
missense |
probably benign |
0.11 |
R6225:Gm43302
|
UTSW |
5 |
105,425,605 (GRCm39) |
nonsense |
probably null |
|
R6483:Gm43302
|
UTSW |
5 |
105,423,726 (GRCm39) |
missense |
probably benign |
0.01 |
R6537:Gm43302
|
UTSW |
5 |
105,438,861 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6678:Gm43302
|
UTSW |
5 |
105,438,820 (GRCm39) |
missense |
probably benign |
0.14 |
R6889:Gm43302
|
UTSW |
5 |
105,428,004 (GRCm39) |
missense |
probably benign |
0.00 |
R7163:Gm43302
|
UTSW |
5 |
105,441,493 (GRCm39) |
splice site |
probably null |
|
R7790:Gm43302
|
UTSW |
5 |
105,425,691 (GRCm39) |
missense |
probably benign |
0.03 |
R7893:Gm43302
|
UTSW |
5 |
105,436,891 (GRCm39) |
nonsense |
probably null |
|
R8047:Gm43302
|
UTSW |
5 |
105,422,623 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8350:Gm43302
|
UTSW |
5 |
105,422,573 (GRCm39) |
critical splice donor site |
probably null |
|
R8450:Gm43302
|
UTSW |
5 |
105,422,573 (GRCm39) |
critical splice donor site |
probably null |
|
R8495:Gm43302
|
UTSW |
5 |
105,424,570 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8728:Gm43302
|
UTSW |
5 |
105,438,793 (GRCm39) |
missense |
probably benign |
0.30 |
R8856:Gm43302
|
UTSW |
5 |
105,438,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R8956:Gm43302
|
UTSW |
5 |
105,425,602 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9009:Gm43302
|
UTSW |
5 |
105,427,974 (GRCm39) |
missense |
probably benign |
0.01 |
RF014:Gm43302
|
UTSW |
5 |
105,422,623 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Gm43302
|
UTSW |
5 |
105,424,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAGGCACTCAGCAAATGAC -3'
(R):5'- ACCTGGAGTAATAAGGCCACAGGAC -3'
Sequencing Primer
(F):5'- TGACATAACTGGCACTTGGC -3'
(R):5'- GACCAGCCCAAGTCCCTTC -3'
|
Posted On |
2013-09-30 |