Incidental Mutation 'R3018:Serinc5'
| ID |
257696 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3018 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
92747646-92848455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92825189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 206
(M206T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049488]
|
| AlphaFold |
Q8BHJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049488
AA Change: M206T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000047547
Gene: ENSMUSG00000021703
AA Change: M206T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
12 |
458 |
6.8e-155 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224250
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,676,853 (GRCm39) |
V126A |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Dnm3 |
T |
A |
1: 162,149,328 (GRCm39) |
K206* |
probably null |
Het |
| Grxcr1 |
C |
T |
5: 68,267,860 (GRCm39) |
S203F |
probably damaging |
Het |
| Matn3 |
A |
T |
12: 9,013,578 (GRCm39) |
D420V |
probably benign |
Het |
| Mlf2 |
G |
T |
6: 124,909,467 (GRCm39) |
M48I |
probably benign |
Het |
| Moxd2 |
T |
A |
6: 40,855,820 (GRCm39) |
T590S |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,070,410 (GRCm39) |
D451G |
possibly damaging |
Het |
| Neurod4 |
T |
C |
10: 130,106,824 (GRCm39) |
E150G |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,100,867 (GRCm39) |
E219V |
probably benign |
Het |
| Rad51ap1 |
T |
C |
6: 126,916,485 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
A |
11: 114,559,761 (GRCm39) |
F11L |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Tnk1 |
C |
T |
11: 69,745,737 (GRCm39) |
|
probably benign |
Het |
| Trim41 |
G |
T |
11: 48,698,521 (GRCm39) |
R482S |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
G |
A |
4: 34,808,814 (GRCm39) |
T1410I |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGGCTCTGTGGTTCCAG -3'
(R):5'- GGCTTCTAAAGAAACCTACTGGG -3'
Sequencing Primer
(F):5'- TCCAGGGTCTCTGCTGG -3'
(R):5'- CTGGGTTTGTTAAAATTCACAAAGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation