Incidental Mutation 'IGL02829:Serinc1'
| ID |
361332 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serinc1
|
| Ensembl Gene |
ENSMUSG00000019877 |
| Gene Name |
serine incorporator 1 |
| Synonyms |
Tde2, TMS-2, 1500011D18Rik, Tde1l |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.678)
|
| Stock # |
IGL02829
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
57391870-57408573 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 57400061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 158
(Y158*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020027]
[ENSMUST00000169122]
[ENSMUST00000170062]
|
| AlphaFold |
Q9QZI8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020027
AA Change: Y195*
|
| SMART Domains |
Protein: ENSMUSP00000020027
Gene: ENSMUSG00000019877
AA Change: Y195*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
16 |
451 |
9.5e-178 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166997
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169122
AA Change: Y158*
|
| SMART Domains |
Protein: ENSMUSP00000126561
Gene: ENSMUSG00000019877
AA Change: Y158*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
15 |
152 |
1.9e-50 |
PFAM |
|
Pfam:Serinc
|
149 |
220 |
6.6e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170062
|
| SMART Domains |
Protein: ENSMUSP00000127041
Gene: ENSMUSG00000019877
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
15 |
113 |
9.1e-31 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male homozygous mutant mice exhibited signs of growth retardation including decreased mean body weight and length total tissue mass and lean body mass. No other notable phenotype was observed for the homozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,490,780 (GRCm39) |
T303A |
probably damaging |
Het |
| Bet1 |
T |
A |
6: 4,086,795 (GRCm39) |
M1L |
probably benign |
Het |
| Bicc1 |
A |
C |
10: 70,794,710 (GRCm39) |
V149G |
probably damaging |
Het |
| Braf |
C |
A |
6: 39,604,662 (GRCm39) |
L655F |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,925,881 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,956,389 (GRCm39) |
K290E |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,811,506 (GRCm39) |
I671K |
unknown |
Het |
| D130052B06Rik |
A |
C |
11: 33,573,864 (GRCm39) |
T154P |
probably benign |
Het |
| Dglucy |
A |
C |
12: 100,837,663 (GRCm39) |
H602P |
probably damaging |
Het |
| Fbxo34 |
A |
G |
14: 47,767,146 (GRCm39) |
I220V |
probably benign |
Het |
| Gm42878 |
A |
G |
5: 121,675,266 (GRCm39) |
V101A |
probably damaging |
Het |
| Gsdmc4 |
A |
G |
15: 63,764,497 (GRCm39) |
L381P |
probably benign |
Het |
| Ifi208 |
C |
A |
1: 173,510,406 (GRCm39) |
P187H |
probably damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,382,000 (GRCm39) |
C2473S |
unknown |
Het |
| Miip |
T |
A |
4: 147,947,518 (GRCm39) |
N214I |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,227,533 (GRCm39) |
T589A |
possibly damaging |
Het |
| Mtss1 |
A |
G |
15: 58,930,277 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
C |
10: 63,028,365 (GRCm39) |
R233G |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,273 (GRCm39) |
C417S |
probably benign |
Het |
| Or13f5 |
C |
T |
4: 52,826,027 (GRCm39) |
P210L |
probably damaging |
Het |
| Or4c111 |
A |
C |
2: 88,844,021 (GRCm39) |
L129W |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,599 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,955 (GRCm39) |
Y515H |
probably damaging |
Het |
| Pla2g2e |
T |
A |
4: 138,607,747 (GRCm39) |
Y42* |
probably null |
Het |
| Polh |
A |
T |
17: 46,483,828 (GRCm39) |
L479Q |
possibly damaging |
Het |
| Prr36 |
T |
A |
8: 4,265,278 (GRCm39) |
R157S |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,891,014 (GRCm39) |
C51S |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,701,236 (GRCm39) |
D1911G |
probably damaging |
Het |
| Scgb1b27 |
A |
T |
7: 33,721,173 (GRCm39) |
|
probably null |
Het |
| Sema4g |
G |
A |
19: 44,981,188 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Slc15a2 |
C |
A |
16: 36,577,555 (GRCm39) |
G435C |
possibly damaging |
Het |
| Tbc1d17 |
C |
A |
7: 44,498,296 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,544,205 (GRCm39) |
Q2074* |
probably null |
Het |
| Tns3 |
A |
G |
11: 8,469,564 (GRCm39) |
C244R |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,026,172 (GRCm39) |
|
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,879 (GRCm39) |
Q338L |
possibly damaging |
Het |
| Wdr70 |
C |
T |
15: 8,006,463 (GRCm39) |
D363N |
possibly damaging |
Het |
| Yipf7 |
A |
T |
5: 69,698,434 (GRCm39) |
S24R |
probably benign |
Het |
|
| Other mutations in Serinc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02267:Serinc1
|
APN |
10 |
57,399,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02600:Serinc1
|
APN |
10 |
57,399,127 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02666:Serinc1
|
APN |
10 |
57,400,089 (GRCm39) |
splice site |
probably null |
|
|
IGL03109:Serinc1
|
APN |
10 |
57,399,165 (GRCm39) |
missense |
probably benign |
0.22 |
|
Olive
|
UTSW |
10 |
57,393,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU74:Serinc1
|
UTSW |
10 |
57,395,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0254:Serinc1
|
UTSW |
10 |
57,399,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0453:Serinc1
|
UTSW |
10 |
57,393,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Serinc1
|
UTSW |
10 |
57,401,479 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1912:Serinc1
|
UTSW |
10 |
57,401,547 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1913:Serinc1
|
UTSW |
10 |
57,395,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4820:Serinc1
|
UTSW |
10 |
57,401,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4947:Serinc1
|
UTSW |
10 |
57,399,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5299:Serinc1
|
UTSW |
10 |
57,399,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5562:Serinc1
|
UTSW |
10 |
57,400,147 (GRCm39) |
nonsense |
probably null |
|
|
R5589:Serinc1
|
UTSW |
10 |
57,399,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7182:Serinc1
|
UTSW |
10 |
57,400,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7723:Serinc1
|
UTSW |
10 |
57,403,918 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8742:Serinc1
|
UTSW |
10 |
57,395,895 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8885:Serinc1
|
UTSW |
10 |
57,395,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8912:Serinc1
|
UTSW |
10 |
57,400,075 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9126:Serinc1
|
UTSW |
10 |
57,395,577 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Serinc1
|
UTSW |
10 |
57,399,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-12-18 |
Incidental Mutation