Incidental Mutation 'R4479:Gm3159'
| ID |
331409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm3159
|
| Ensembl Gene |
ENSMUSG00000095056 |
| Gene Name |
predicted gene 3159 |
| Synonyms |
|
| MMRRC Submission |
041736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4479 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
18063745-18072184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4398584 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 92
(Y92H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164038]
[ENSMUST00000167245]
[ENSMUST00000177764]
|
| AlphaFold |
K7N760 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164038
AA Change: Y92H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126043
Gene: ENSMUSG00000095056
AA Change: Y92H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
46 |
129 |
1.3e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167245
AA Change: Y92H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133201
Gene: ENSMUSG00000095056
AA Change: Y92H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
48 |
128 |
5.1e-21 |
PFAM |
|
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177764
AA Change: Y92H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137464
Gene: ENSMUSG00000095056
AA Change: Y92H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
46 |
129 |
5.6e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,301,326 (GRCm39) |
R66H |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,885,754 (GRCm39) |
E150G |
probably damaging |
Het |
| Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,175,573 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dusp15 |
A |
G |
2: 152,786,102 (GRCm39) |
L135P |
probably damaging |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,515,127 (GRCm39) |
V10L |
probably benign |
Het |
| F830104G03Rik |
A |
G |
3: 56,797,634 (GRCm39) |
S98P |
unknown |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Ighv1-22 |
G |
T |
12: 114,710,283 (GRCm39) |
A15E |
possibly damaging |
Het |
| Ints4 |
T |
C |
7: 97,134,178 (GRCm39) |
S37P |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,015 (GRCm39) |
T1067I |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,181,362 (GRCm39) |
|
probably null |
Het |
| Or10v1 |
A |
G |
19: 11,873,922 (GRCm39) |
Y179C |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,514 (GRCm39) |
I80T |
possibly damaging |
Het |
| Or5ac24 |
G |
A |
16: 59,165,230 (GRCm39) |
T278I |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Psma3 |
T |
C |
12: 71,031,555 (GRCm39) |
|
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,372,412 (GRCm39) |
|
probably benign |
Het |
| Tas2r115 |
T |
C |
6: 132,714,495 (GRCm39) |
D152G |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,315 (GRCm39) |
L308Q |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,985,236 (GRCm39) |
A15T |
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,747,233 (GRCm39) |
R820C |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,147,984 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm3159 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02960:Gm3159
|
APN |
14 |
4,400,552 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1398:Gm3159
|
UTSW |
14 |
4,398,586 (GRCm38) |
nonsense |
probably null |
|
|
R4477:Gm3159
|
UTSW |
14 |
4,398,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4480:Gm3159
|
UTSW |
14 |
4,398,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5677:Gm3159
|
UTSW |
14 |
4,398,582 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6957:Gm3159
|
UTSW |
14 |
4,398,530 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7366:Gm3159
|
UTSW |
14 |
4,398,525 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7514:Gm3159
|
UTSW |
14 |
4,399,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7796:Gm3159
|
UTSW |
14 |
4,400,560 (GRCm38) |
makesense |
probably null |
|
|
R7799:Gm3159
|
UTSW |
14 |
4,397,585 (GRCm38) |
unclassified |
probably benign |
|
|
R8486:Gm3159
|
UTSW |
14 |
4,400,520 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8493:Gm3159
|
UTSW |
14 |
4,398,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9345:Gm3159
|
UTSW |
14 |
4,398,488 (GRCm38) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGCCATCAAGTATGCAAAC -3'
(R):5'- AGATTGCAAGCATCCCAGGG -3'
Sequencing Primer
(F):5'- GGCCATCAAGTATGCAAACTCATTTG -3'
(R):5'- TGCAAGCATCCCAGGGTCAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation