Incidental Mutation 'R4987:Serinc2'
| ID |
453138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serinc2
|
| Ensembl Gene |
ENSMUSG00000023232 |
| Gene Name |
serine incorporator 2 |
| Synonyms |
Tde2l, 2310004K20Rik, FKSG84, TDE2 |
| MMRRC Submission |
042581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4987 (G1)
|
| Quality Score |
23 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
130147289-130172993 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 130156820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105996]
[ENSMUST00000105996]
[ENSMUST00000120126]
[ENSMUST00000120126]
[ENSMUST00000122374]
[ENSMUST00000122374]
[ENSMUST00000146478]
[ENSMUST00000146478]
[ENSMUST00000154846]
|
| AlphaFold |
Q8K0E7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105996
|
| SMART Domains |
Protein: ENSMUSP00000101618
Gene: ENSMUSG00000023232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
15 |
449 |
4.1e-162 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105996
|
| SMART Domains |
Protein: ENSMUSP00000101618
Gene: ENSMUSG00000023232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
15 |
449 |
4.1e-162 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120126
|
| SMART Domains |
Protein: ENSMUSP00000113044
Gene: ENSMUSG00000023232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
25 |
457 |
1.4e-158 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120126
|
| SMART Domains |
Protein: ENSMUSP00000113044
Gene: ENSMUSG00000023232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
25 |
457 |
1.4e-158 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122374
|
| SMART Domains |
Protein: ENSMUSP00000112535
Gene: ENSMUSG00000023232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
1 |
394 |
2.9e-148 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122374
|
| SMART Domains |
Protein: ENSMUSP00000112535
Gene: ENSMUSG00000023232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
1 |
394 |
2.9e-148 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146478
|
| SMART Domains |
Protein: ENSMUSP00000115198
Gene: ENSMUSG00000023232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
1 |
148 |
1.9e-56 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146478
|
| SMART Domains |
Protein: ENSMUSP00000115198
Gene: ENSMUSG00000023232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
1 |
148 |
1.9e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154846
|
| SMART Domains |
Protein: ENSMUSP00000116586
Gene: ENSMUSG00000023232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
1 |
82 |
3.3e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.9489 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.3%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,030,725 (GRCm39) |
S249P |
probably benign |
Het |
| Adcy4 |
A |
G |
14: 56,010,934 (GRCm39) |
V661A |
probably benign |
Het |
| Ahdc1 |
T |
G |
4: 132,791,631 (GRCm39) |
H957Q |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,042,440 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,587,952 (GRCm39) |
N57I |
probably damaging |
Het |
| Brms1l |
T |
A |
12: 55,912,800 (GRCm39) |
D264E |
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,030,783 (GRCm39) |
N309Y |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,651,938 (GRCm39) |
T285A |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,454,635 (GRCm39) |
V227A |
probably benign |
Het |
| Dennd1c |
G |
T |
17: 57,380,852 (GRCm39) |
T200K |
probably damaging |
Het |
| Dpysl3 |
C |
A |
18: 43,461,492 (GRCm39) |
M566I |
probably benign |
Het |
| Dscam |
A |
T |
16: 96,498,721 (GRCm39) |
D985E |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,542,894 (GRCm39) |
M68T |
probably benign |
Het |
| Gm26996 |
A |
G |
6: 130,567,959 (GRCm39) |
|
unknown |
Het |
| Gm9991 |
A |
T |
1: 90,603,138 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmc |
T |
A |
14: 56,468,997 (GRCm39) |
I241L |
probably damaging |
Het |
| Hibadh |
A |
T |
6: 52,599,880 (GRCm39) |
S105R |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,384,890 (GRCm39) |
I402T |
probably benign |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,396 (GRCm39) |
D76G |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,496,329 (GRCm39) |
S249G |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,637,222 (GRCm39) |
|
probably null |
Het |
| Mfap4 |
A |
G |
11: 61,376,908 (GRCm39) |
I46V |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,064,598 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 68,986,775 (GRCm39) |
M107V |
probably benign |
Het |
| Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
| Or8k33 |
A |
C |
2: 86,383,579 (GRCm39) |
D296E |
probably null |
Het |
| Pcdha12 |
T |
A |
18: 37,154,604 (GRCm39) |
V441E |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,118 (GRCm39) |
|
probably benign |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,637 (GRCm39) |
S175P |
probably damaging |
Het |
| Ppme1 |
T |
C |
7: 99,994,278 (GRCm39) |
D145G |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,724,630 (GRCm39) |
V793A |
probably damaging |
Het |
| Rlbp1 |
A |
T |
7: 79,029,879 (GRCm39) |
V118E |
probably damaging |
Het |
| Slc25a32 |
A |
G |
15: 38,963,414 (GRCm39) |
C136R |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,757,590 (GRCm39) |
D48G |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,794,047 (GRCm39) |
L46I |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,700,737 (GRCm39) |
|
probably benign |
Het |
| Zp3 |
T |
A |
5: 136,016,359 (GRCm39) |
C320* |
probably null |
Het |
|
| Other mutations in Serinc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Serinc2
|
APN |
4 |
130,158,201 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02031:Serinc2
|
APN |
4 |
130,158,237 (GRCm39) |
nonsense |
probably null |
|
|
IGL02551:Serinc2
|
APN |
4 |
130,154,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1455:Serinc2
|
UTSW |
4 |
130,158,133 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1520:Serinc2
|
UTSW |
4 |
130,154,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2059:Serinc2
|
UTSW |
4 |
130,154,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Serinc2
|
UTSW |
4 |
130,159,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Serinc2
|
UTSW |
4 |
130,159,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Serinc2
|
UTSW |
4 |
130,154,528 (GRCm39) |
missense |
probably benign |
|
|
R3162:Serinc2
|
UTSW |
4 |
130,154,528 (GRCm39) |
missense |
probably benign |
|
|
R4497:Serinc2
|
UTSW |
4 |
130,147,847 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4735:Serinc2
|
UTSW |
4 |
130,157,438 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5569:Serinc2
|
UTSW |
4 |
130,172,272 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5681:Serinc2
|
UTSW |
4 |
130,158,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Serinc2
|
UTSW |
4 |
130,149,314 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6556:Serinc2
|
UTSW |
4 |
130,152,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6898:Serinc2
|
UTSW |
4 |
130,149,235 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7264:Serinc2
|
UTSW |
4 |
130,152,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7526:Serinc2
|
UTSW |
4 |
130,152,583 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7835:Serinc2
|
UTSW |
4 |
130,169,280 (GRCm39) |
missense |
unknown |
|
|
R8744:Serinc2
|
UTSW |
4 |
130,158,988 (GRCm39) |
start gained |
probably benign |
|
|
R8819:Serinc2
|
UTSW |
4 |
130,149,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8820:Serinc2
|
UTSW |
4 |
130,149,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9335:Serinc2
|
UTSW |
4 |
130,158,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9419:Serinc2
|
UTSW |
4 |
130,149,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9542:Serinc2
|
UTSW |
4 |
130,152,516 (GRCm39) |
nonsense |
probably null |
|
|
R9688:Serinc2
|
UTSW |
4 |
130,158,133 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Serinc2
|
UTSW |
4 |
130,147,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGAGCCTGGCCCATTCC -3'
(R):5'- TGACTGAAGCTATGCTGGGAAC -3'
Sequencing Primer
(F):5'- GGCCCATTCCCTGCTGTG -3'
(R):5'- TGCTGTCCCCATAGCCG -3'
|
| Posted On |
2017-01-30 |
Incidental Mutation