Incidental Mutation 'IGL03259:Serinc5'
| ID |
414756 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serinc5
|
| Ensembl Gene |
ENSMUSG00000021703 |
| Gene Name |
serine incorporator 5 |
| Synonyms |
AIGP3, TPO1, A130038L21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
IGL03259
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
92747646-92848455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92827500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 272
(V272D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049488]
|
| AlphaFold |
Q8BHJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049488
AA Change: V272D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047547
Gene: ENSMUSG00000021703
AA Change: V272D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
12 |
458 |
6.8e-155 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224250
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
T |
C |
5: 67,781,349 (GRCm39) |
|
probably null |
Het |
| Btbd3 |
T |
C |
2: 138,121,680 (GRCm39) |
M121T |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,953,483 (GRCm39) |
N500I |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,663,841 (GRCm39) |
L534P |
probably damaging |
Het |
| Cyp2d11 |
C |
T |
15: 82,274,221 (GRCm39) |
V387M |
probably damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,094,077 (GRCm39) |
I443T |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,098,985 (GRCm39) |
D1305V |
probably damaging |
Het |
| Hps5 |
G |
T |
7: 46,412,526 (GRCm39) |
P1021Q |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,980,156 (GRCm39) |
D637G |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,407,705 (GRCm39) |
D1233G |
probably damaging |
Het |
| Lad1 |
A |
T |
1: 135,755,394 (GRCm39) |
R223S |
probably benign |
Het |
| Ms4a13 |
A |
G |
19: 11,161,210 (GRCm39) |
S110P |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,652,576 (GRCm39) |
D387E |
possibly damaging |
Het |
| Or1m1 |
A |
G |
9: 18,666,811 (GRCm39) |
V40A |
probably benign |
Het |
| Or7a41 |
C |
A |
10: 78,871,234 (GRCm39) |
Y201* |
probably null |
Het |
| Or8k3b |
G |
T |
2: 86,520,894 (GRCm39) |
Q142K |
probably benign |
Het |
| Pcgf5 |
T |
A |
19: 36,433,059 (GRCm39) |
D234E |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,480,388 (GRCm39) |
H1973L |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,167,251 (GRCm39) |
F226L |
probably damaging |
Het |
| Pgp |
A |
G |
17: 24,690,022 (GRCm39) |
K180R |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,938,788 (GRCm39) |
K404* |
probably null |
Het |
| Slc4a5 |
A |
G |
6: 83,247,979 (GRCm39) |
H395R |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,176,530 (GRCm39) |
V40D |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,035,853 (GRCm39) |
I3713M |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,086 (GRCm39) |
L48* |
probably null |
Het |
| Vwa7 |
A |
G |
17: 35,239,002 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serinc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Serinc5
|
APN |
13 |
92,842,779 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01954:Serinc5
|
APN |
13 |
92,819,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02248:Serinc5
|
APN |
13 |
92,842,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0352:Serinc5
|
UTSW |
13 |
92,844,497 (GRCm39) |
splice site |
probably null |
|
|
R0600:Serinc5
|
UTSW |
13 |
92,844,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Serinc5
|
UTSW |
13 |
92,825,245 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0944:Serinc5
|
UTSW |
13 |
92,797,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0972:Serinc5
|
UTSW |
13 |
92,825,128 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1163:Serinc5
|
UTSW |
13 |
92,819,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Serinc5
|
UTSW |
13 |
92,797,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1703:Serinc5
|
UTSW |
13 |
92,825,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1866:Serinc5
|
UTSW |
13 |
92,842,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1887:Serinc5
|
UTSW |
13 |
92,838,214 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3018:Serinc5
|
UTSW |
13 |
92,825,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4863:Serinc5
|
UTSW |
13 |
92,827,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Serinc5
|
UTSW |
13 |
92,825,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5715:Serinc5
|
UTSW |
13 |
92,842,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Serinc5
|
UTSW |
13 |
92,797,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6228:Serinc5
|
UTSW |
13 |
92,844,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Serinc5
|
UTSW |
13 |
92,825,170 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6592:Serinc5
|
UTSW |
13 |
92,844,634 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6622:Serinc5
|
UTSW |
13 |
92,825,194 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6787:Serinc5
|
UTSW |
13 |
92,842,740 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7730:Serinc5
|
UTSW |
13 |
92,821,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7773:Serinc5
|
UTSW |
13 |
92,797,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Serinc5
|
UTSW |
13 |
92,797,699 (GRCm39) |
splice site |
probably null |
|
|
R8009:Serinc5
|
UTSW |
13 |
92,797,699 (GRCm39) |
splice site |
probably null |
|
|
R8819:Serinc5
|
UTSW |
13 |
92,844,544 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8820:Serinc5
|
UTSW |
13 |
92,844,544 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9116:Serinc5
|
UTSW |
13 |
92,797,514 (GRCm39) |
splice site |
probably benign |
|
|
R9460:Serinc5
|
UTSW |
13 |
92,844,619 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9460:Serinc5
|
UTSW |
13 |
92,844,607 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0018:Serinc5
|
UTSW |
13 |
92,797,583 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation