Incidental Mutation 'IGL02600:Serinc1'
| ID |
300029 |
| 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 # |
IGL02600
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
57391870-57408573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57399127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 259
(S259P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020027]
[ENSMUST00000169122]
[ENSMUST00000170062]
|
| AlphaFold |
Q9QZI8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020027
AA Change: S259P
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020027
Gene: ENSMUSG00000019877
AA Change: S259P
| 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 benign
Transcript: ENSMUST00000169122
|
| SMART Domains |
Protein: ENSMUSP00000126561
Gene: ENSMUSG00000019877
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,200,264 (GRCm39) |
I483L |
probably benign |
Het |
| Bmpr1b |
A |
C |
3: 141,546,488 (GRCm39) |
M466R |
probably damaging |
Het |
| Casp8ap2 |
G |
A |
4: 32,630,246 (GRCm39) |
D42N |
probably null |
Het |
| Crebbp |
T |
A |
16: 3,972,882 (GRCm39) |
T271S |
probably benign |
Het |
| Ddx27 |
A |
G |
2: 166,868,124 (GRCm39) |
H319R |
probably damaging |
Het |
| Dync2i2 |
T |
A |
2: 29,923,314 (GRCm39) |
D263V |
possibly damaging |
Het |
| Gckr |
A |
G |
5: 31,462,374 (GRCm39) |
M236V |
probably benign |
Het |
| Gm28044 |
A |
C |
13: 67,469,025 (GRCm39) |
|
probably benign |
Het |
| Gmnc |
T |
A |
16: 26,781,641 (GRCm39) |
|
probably benign |
Het |
| Gpx3 |
C |
A |
11: 54,800,433 (GRCm39) |
D210E |
possibly damaging |
Het |
| Lpin2 |
A |
G |
17: 71,545,693 (GRCm39) |
N513S |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,974,227 (GRCm39) |
R170C |
probably damaging |
Het |
| Nrxn3 |
G |
T |
12: 89,478,682 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,101,449 (GRCm39) |
I373V |
probably benign |
Het |
| Or13a21 |
T |
C |
7: 139,998,862 (GRCm39) |
T275A |
probably benign |
Het |
| Or6b6 |
A |
G |
7: 106,570,756 (GRCm39) |
I265T |
possibly damaging |
Het |
| Padi3 |
A |
G |
4: 140,525,467 (GRCm39) |
V172A |
probably benign |
Het |
| Pdzd2 |
C |
A |
15: 12,411,105 (GRCm39) |
G554W |
probably damaging |
Het |
| Plekhg6 |
G |
A |
6: 125,347,563 (GRCm39) |
R464* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slfn4 |
T |
A |
11: 83,077,832 (GRCm39) |
S207T |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 86,790,123 (GRCm39) |
G548R |
probably damaging |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,052 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
A |
2: 76,570,509 (GRCm39) |
P26795S |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,817,829 (GRCm39) |
M661V |
probably benign |
Het |
| Ybey |
G |
A |
10: 76,300,165 (GRCm39) |
|
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,194,196 (GRCm39) |
D715G |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,394,623 (GRCm39) |
|
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 |
|
IGL02666:Serinc1
|
APN |
10 |
57,400,089 (GRCm39) |
splice site |
probably null |
|
|
IGL02829:Serinc1
|
APN |
10 |
57,400,061 (GRCm39) |
nonsense |
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 |
2015-04-16 |
Incidental Mutation