Incidental Mutation 'R6537:Gm43302'
ID |
520471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm43302
|
Ensembl Gene |
ENSMUSG00000079362 |
Gene Name |
predicted gene 43302 |
Synonyms |
|
MMRRC Submission |
044663-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R6537 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105362773-105441561 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105438861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 9
(I9T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050011]
[ENSMUST00000196520]
[ENSMUST00000200045]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050011
AA Change: I9T
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062528 Gene: ENSMUSG00000079362 AA Change: I9T
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 |
possibly damaging
Transcript: ENSMUST00000196520
AA Change: I9T
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142518 Gene: ENSMUSG00000104713 AA Change: I9T
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 |
possibly damaging
Transcript: ENSMUST00000200045
AA Change: I9T
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142994 Gene: ENSMUSG00000104713 AA Change: I9T
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
62 |
7.4e-19 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (30/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc4 |
T |
C |
5: 53,000,898 (GRCm39) |
S224P |
probably damaging |
Het |
Col6a4 |
G |
A |
9: 105,945,153 (GRCm39) |
T987M |
possibly damaging |
Het |
Cort |
C |
T |
4: 149,211,081 (GRCm39) |
G8E |
probably benign |
Het |
Ctdp1 |
G |
T |
18: 80,492,766 (GRCm39) |
D576E |
probably benign |
Het |
Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
Cwc15 |
A |
G |
9: 14,413,284 (GRCm39) |
D22G |
probably damaging |
Het |
Dnmt3l |
G |
A |
10: 77,887,898 (GRCm39) |
G136R |
probably null |
Het |
Fxyd6 |
A |
G |
9: 45,302,092 (GRCm39) |
I37V |
possibly damaging |
Het |
Gm10604 |
A |
C |
4: 11,980,221 (GRCm39) |
S28A |
unknown |
Het |
Hmcn2 |
T |
C |
2: 31,305,280 (GRCm39) |
V3151A |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,435,573 (GRCm39) |
T282A |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,457,458 (GRCm39) |
E782G |
probably benign |
Het |
Lrrc3b |
T |
C |
14: 15,357,946 (GRCm38) |
Y220C |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,386,518 (GRCm39) |
S1033N |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,994,481 (GRCm39) |
T452A |
probably benign |
Het |
Nrn1l |
G |
T |
8: 106,621,350 (GRCm39) |
R99L |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,215,519 (GRCm39) |
I1142N |
probably damaging |
Het |
Pcsk1 |
T |
C |
13: 75,280,358 (GRCm39) |
F728L |
probably damaging |
Het |
Ptcd3 |
T |
C |
6: 71,874,094 (GRCm39) |
|
probably null |
Het |
Siglecf |
C |
T |
7: 43,005,423 (GRCm39) |
T461I |
probably benign |
Het |
Slc7a8 |
C |
T |
14: 54,972,576 (GRCm39) |
A282T |
probably benign |
Het |
Srcap |
T |
C |
7: 127,141,392 (GRCm39) |
V1724A |
probably damaging |
Het |
Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
Tek |
A |
G |
4: 94,725,561 (GRCm39) |
Q609R |
probably benign |
Het |
Trim45 |
C |
T |
3: 100,832,712 (GRCm39) |
A315V |
probably benign |
Het |
Ttbk1 |
C |
T |
17: 46,781,236 (GRCm39) |
V446M |
probably damaging |
Het |
Wrap53 |
T |
C |
11: 69,454,694 (GRCm39) |
D225G |
possibly damaging |
Het |
Znhit6 |
A |
G |
3: 145,300,374 (GRCm39) |
I193V |
probably benign |
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 |
R0764:Gm43302
|
UTSW |
5 |
105,428,355 (GRCm39) |
missense |
probably benign |
|
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 |
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'- CAAACCTTTGGCTGGTAGGC -3'
(R):5'- AAGAGAAGCAGGCCCTCTGTAC -3'
Sequencing Primer
(F):5'- CAGCATGCCACTCACCGTG -3'
(R):5'- ACTGCAGATTCGAGGTTACATGC -3'
|
Posted On |
2018-06-06 |