Incidental Mutation 'T0970:Serinc3'
ID |
67255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serinc3
|
Ensembl Gene |
ENSMUSG00000017707 |
Gene Name |
serine incorporator 3 |
Synonyms |
DIFF33, TMS-1, Tde1, AIGP1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
T0970 (G3)
of strain
713
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
163466577-163487767 bp(-) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
TATCATC to TATC
at 163469835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017851]
|
AlphaFold |
Q9QZI9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017851
|
SMART Domains |
Protein: ENSMUSP00000017851 Gene: ENSMUSG00000017707
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
16 |
470 |
9e-168 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
100% (25/25) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
A |
T |
10: 88,817,052 (GRCm39) |
L591* |
probably null |
Het |
Aqp4 |
A |
G |
18: 15,532,940 (GRCm39) |
L51P |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,632,354 (GRCm39) |
C403S |
probably damaging |
Het |
Cfap74 |
G |
T |
4: 155,547,574 (GRCm39) |
|
probably null |
Het |
Glis3 |
G |
A |
19: 28,508,332 (GRCm39) |
R551W |
probably damaging |
Het |
Gm11232 |
T |
A |
4: 71,674,740 (GRCm39) |
Y254F |
possibly damaging |
Het |
Map3k14 |
G |
T |
11: 103,115,124 (GRCm39) |
C837* |
probably null |
Het |
Mrc2 |
A |
C |
11: 105,238,453 (GRCm39) |
E1200A |
probably benign |
Het |
Nfix |
T |
C |
8: 85,453,112 (GRCm39) |
N314S |
possibly damaging |
Het |
Nphp4 |
T |
C |
4: 152,640,836 (GRCm39) |
S1068P |
probably damaging |
Het |
Nup98 |
A |
C |
7: 101,835,959 (GRCm39) |
|
probably benign |
Het |
Or13p8 |
A |
G |
4: 118,583,464 (GRCm39) |
R7G |
probably benign |
Het |
Pcdhac2 |
T |
C |
18: 37,278,388 (GRCm39) |
V456A |
possibly damaging |
Het |
Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
Prss38 |
A |
G |
11: 59,263,974 (GRCm39) |
V246A |
possibly damaging |
Het |
Rnf26 |
C |
G |
9: 44,023,369 (GRCm39) |
R172P |
probably damaging |
Het |
Septin4 |
A |
T |
11: 87,458,558 (GRCm39) |
T311S |
probably damaging |
Het |
Spire1 |
C |
A |
18: 67,634,133 (GRCm39) |
|
probably null |
Het |
Tex2 |
T |
A |
11: 106,437,772 (GRCm39) |
I633F |
unknown |
Het |
Tle2 |
A |
G |
10: 81,416,119 (GRCm39) |
D108G |
possibly damaging |
Het |
Txnrd2 |
T |
C |
16: 18,260,523 (GRCm39) |
V185A |
probably damaging |
Het |
Unc45b |
C |
A |
11: 82,813,714 (GRCm39) |
H374N |
probably benign |
Het |
Wtap |
T |
C |
17: 13,188,277 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Serinc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00569:Serinc3
|
APN |
2 |
163,469,921 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01152:Serinc3
|
APN |
2 |
163,478,831 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02879:Serinc3
|
APN |
2 |
163,474,172 (GRCm39) |
splice site |
probably benign |
|
IGL02945:Serinc3
|
APN |
2 |
163,472,836 (GRCm39) |
splice site |
probably benign |
|
R0783:Serinc3
|
UTSW |
2 |
163,478,923 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1181:Serinc3
|
UTSW |
2 |
163,467,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Serinc3
|
UTSW |
2 |
163,487,409 (GRCm39) |
unclassified |
probably benign |
|
R4254:Serinc3
|
UTSW |
2 |
163,478,888 (GRCm39) |
missense |
probably benign |
|
R6225:Serinc3
|
UTSW |
2 |
163,469,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R6271:Serinc3
|
UTSW |
2 |
163,472,896 (GRCm39) |
missense |
probably benign |
0.15 |
R6860:Serinc3
|
UTSW |
2 |
163,476,366 (GRCm39) |
missense |
probably benign |
|
R6986:Serinc3
|
UTSW |
2 |
163,469,891 (GRCm39) |
missense |
probably benign |
0.00 |
R7060:Serinc3
|
UTSW |
2 |
163,478,879 (GRCm39) |
missense |
probably benign |
0.01 |
R7618:Serinc3
|
UTSW |
2 |
163,472,889 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9223:Serinc3
|
UTSW |
2 |
163,478,812 (GRCm39) |
missense |
probably benign |
0.26 |
R9274:Serinc3
|
UTSW |
2 |
163,468,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R9766:Serinc3
|
UTSW |
2 |
163,471,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCATACAGAGCTGGACTGGCA -3'
(R):5'- GGTGTGTGGACAAGCCCTCTGAT -3'
Sequencing Primer
(F):5'- tgaggtagaggcaggcag -3'
(R):5'- TGGACAAGCCCTCTGATTTATG -3'
|
Posted On |
2013-09-03 |