Incidental Mutation 'IGL01954:Serinc5'
| ID |
181365 |
| 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: 0.137)
|
| Stock # |
IGL01954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
92747646-92848455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92819441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 125
(N125S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049488]
|
| AlphaFold |
Q8BHJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049488
AA Change: N125S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047547
Gene: ENSMUSG00000021703
AA Change: N125S
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,396,741 (GRCm39) |
D330E |
probably damaging |
Het |
| Acsm3 |
T |
C |
7: 119,374,306 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
A |
6: 118,535,966 (GRCm39) |
Y156F |
possibly damaging |
Het |
| Bcr |
G |
A |
10: 75,011,173 (GRCm39) |
|
probably null |
Het |
| Cpn2 |
C |
T |
16: 30,079,138 (GRCm39) |
A188T |
probably benign |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,242 (GRCm39) |
|
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,500,637 (GRCm39) |
R303S |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,971,388 (GRCm39) |
D59G |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,944,460 (GRCm39) |
W91R |
probably damaging |
Het |
| Gpr149 |
T |
C |
3: 62,438,348 (GRCm39) |
N603S |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,187,123 (GRCm39) |
I1099T |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,253 (GRCm39) |
V21D |
probably benign |
Het |
| Klhl18 |
T |
C |
9: 110,257,934 (GRCm39) |
Y432C |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,963,295 (GRCm39) |
D1289G |
probably benign |
Het |
| Mab21l4 |
T |
A |
1: 93,079,794 (GRCm39) |
D432V |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,165,507 (GRCm39) |
T466A |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,048,439 (GRCm39) |
E1704G |
possibly damaging |
Het |
| Mettl25 |
C |
T |
10: 105,659,068 (GRCm39) |
C405Y |
probably damaging |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Ndc1 |
T |
A |
4: 107,253,001 (GRCm39) |
I590N |
probably damaging |
Het |
| Npnt |
G |
T |
3: 132,615,724 (GRCm39) |
N137K |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,645,300 (GRCm39) |
R309* |
probably null |
Het |
| Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
| Or11i1 |
A |
G |
3: 106,729,311 (GRCm39) |
I188T |
possibly damaging |
Het |
| Or5v1 |
C |
A |
17: 37,809,540 (GRCm39) |
|
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,794 (GRCm39) |
V263F |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,734,355 (GRCm39) |
|
probably null |
Het |
| Ppp2r3c |
A |
G |
12: 55,339,353 (GRCm39) |
L170P |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,210,235 (GRCm39) |
D558E |
possibly damaging |
Het |
| Rasal2 |
A |
G |
1: 157,005,269 (GRCm39) |
S227P |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 157,003,686 (GRCm39) |
D324E |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,467,416 (GRCm39) |
Y418C |
probably damaging |
Het |
| Rhag |
T |
C |
17: 41,139,341 (GRCm39) |
F92S |
possibly damaging |
Het |
| Scel |
T |
C |
14: 103,840,678 (GRCm39) |
|
probably benign |
Het |
| Sgpl1 |
A |
T |
10: 60,936,672 (GRCm39) |
M561K |
probably benign |
Het |
| Sostdc1 |
T |
C |
12: 36,367,121 (GRCm39) |
V99A |
probably damaging |
Het |
| Them6 |
A |
G |
15: 74,593,538 (GRCm39) |
Y132C |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
A |
T |
6: 124,169,207 (GRCm39) |
F641Y |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,876,580 (GRCm39) |
Y3384C |
probably damaging |
Het |
| Zbtb32 |
G |
T |
7: 30,289,353 (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 |
|
IGL02248:Serinc5
|
APN |
13 |
92,842,648 (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 |
2014-05-07 |
Incidental Mutation