Incidental Mutation 'IGL02248:Serinc5'
| ID |
286266 |
| 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 # |
IGL02248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
92747646-92848455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92842648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 366
(D366G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049488]
|
| AlphaFold |
Q8BHJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049488
AA Change: D366G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047547
Gene: ENSMUSG00000021703
AA Change: D366G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
12 |
458 |
6.8e-155 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224458
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
A |
T |
4: 153,516,568 (GRCm39) |
S258T |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,590,065 (GRCm39) |
|
probably benign |
Het |
| B4galnt4 |
T |
C |
7: 140,647,721 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,023,439 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
T |
C |
11: 49,071,625 (GRCm39) |
D66G |
probably benign |
Het |
| Casp1 |
T |
A |
9: 5,299,452 (GRCm39) |
H60Q |
probably benign |
Het |
| Clec4n |
T |
G |
6: 123,207,527 (GRCm39) |
S30R |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,671,297 (GRCm39) |
L1021P |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,810,940 (GRCm39) |
N22D |
possibly damaging |
Het |
| Frrs1l |
T |
A |
4: 56,968,272 (GRCm39) |
N167Y |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,813,116 (GRCm39) |
I3145K |
possibly damaging |
Het |
| Gcc1 |
G |
T |
6: 28,418,513 (GRCm39) |
R607S |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,012,107 (GRCm39) |
I113K |
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,758,387 (GRCm39) |
|
probably benign |
Het |
| Igkv4-69 |
T |
A |
6: 69,261,305 (GRCm39) |
|
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,221 (GRCm39) |
C45F |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,313,152 (GRCm39) |
Y2483C |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,078,895 (GRCm39) |
L273S |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,670,814 (GRCm39) |
L476Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,499,109 (GRCm39) |
I390V |
probably benign |
Het |
| Notch4 |
A |
T |
17: 34,806,172 (GRCm39) |
D1756V |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,188 (GRCm39) |
|
probably null |
Het |
| Or14c41 |
T |
A |
7: 86,235,312 (GRCm39) |
Y276* |
probably null |
Het |
| Or8k38 |
A |
T |
2: 86,488,061 (GRCm39) |
V247E |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,115,990 (GRCm39) |
Y3006C |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,330,342 (GRCm39) |
L503Q |
probably damaging |
Het |
| Slain1 |
A |
G |
14: 103,923,213 (GRCm39) |
D102G |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,757,291 (GRCm39) |
I469F |
possibly damaging |
Het |
| Tomm70a |
T |
A |
16: 56,958,465 (GRCm39) |
S273T |
probably benign |
Het |
| Trak1 |
G |
T |
9: 121,275,860 (GRCm39) |
V281L |
probably damaging |
Het |
| Trib2 |
T |
C |
12: 15,843,967 (GRCm39) |
N225S |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,703 (GRCm39) |
K685N |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,418 (GRCm39) |
H142Q |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,303 (GRCm39) |
I1037V |
possibly damaging |
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 |
|
IGL03259:Serinc5
|
APN |
13 |
92,827,500 (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 |
2015-04-16 |
Incidental Mutation