Incidental Mutation 'R6898:Serinc2'
ID |
538445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serinc2
|
Ensembl Gene |
ENSMUSG00000023232 |
Gene Name |
serine incorporator 2 |
Synonyms |
Tde2l, 2310004K20Rik, FKSG84, TDE2 |
MMRRC Submission |
044992-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R6898 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
130147289-130172993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 130149235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 322
(D322E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105996]
[ENSMUST00000120126]
[ENSMUST00000122374]
|
AlphaFold |
Q8K0E7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105996
AA Change: D377E
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000101618 Gene: ENSMUSG00000023232 AA Change: D377E
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
15 |
449 |
4.1e-162 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120126
AA Change: D386E
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113044 Gene: ENSMUSG00000023232 AA Change: D386E
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
25 |
457 |
1.4e-158 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122374
AA Change: D322E
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000112535 Gene: ENSMUSG00000023232 AA Change: D322E
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
1 |
394 |
2.9e-148 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd7 |
G |
T |
6: 18,868,100 (GRCm39) |
|
probably null |
Het |
Aoc1l2 |
A |
T |
6: 48,907,975 (GRCm39) |
Y325F |
probably damaging |
Het |
Aplnr |
A |
T |
2: 84,970,155 (GRCm39) |
|
probably benign |
Het |
Capns2 |
T |
C |
8: 93,628,605 (GRCm39) |
S165P |
probably damaging |
Het |
Col25a1 |
T |
C |
3: 130,378,377 (GRCm39) |
|
probably null |
Het |
Crocc2 |
T |
C |
1: 93,143,304 (GRCm39) |
V1302A |
probably benign |
Het |
Cul9 |
C |
A |
17: 46,821,952 (GRCm39) |
R1841M |
possibly damaging |
Het |
Dnhd1 |
T |
C |
7: 105,336,584 (GRCm39) |
L1213P |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,631,100 (GRCm39) |
I305K |
probably benign |
Het |
Dsp |
A |
G |
13: 38,376,193 (GRCm39) |
E1326G |
possibly damaging |
Het |
Eif4a3l1 |
T |
A |
6: 136,305,617 (GRCm39) |
V26E |
probably benign |
Het |
Emc9 |
A |
G |
14: 55,822,367 (GRCm39) |
|
probably null |
Het |
Eppk1 |
A |
C |
15: 75,996,126 (GRCm39) |
S252A |
probably benign |
Het |
Fn1 |
T |
A |
1: 71,639,572 (GRCm39) |
T1830S |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,179,485 (GRCm39) |
M2974K |
probably damaging |
Het |
Gdpd3 |
C |
A |
7: 126,370,201 (GRCm39) |
S250* |
probably null |
Het |
Gnl3 |
A |
T |
14: 30,735,136 (GRCm39) |
S485R |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Hsd17b3 |
T |
C |
13: 64,207,339 (GRCm39) |
Y234C |
probably benign |
Het |
Lima1 |
T |
C |
15: 99,679,148 (GRCm39) |
H271R |
possibly damaging |
Het |
Nfu1 |
G |
A |
6: 86,994,034 (GRCm39) |
|
probably null |
Het |
Noto |
A |
G |
6: 85,404,942 (GRCm39) |
E97G |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 109,779,534 (GRCm39) |
K348E |
probably damaging |
Het |
Or2y13 |
G |
A |
11: 49,414,536 (GRCm39) |
|
probably benign |
Het |
Or4a70 |
C |
T |
2: 89,324,594 (GRCm39) |
G21R |
possibly damaging |
Het |
Osmr |
C |
A |
15: 6,845,364 (GRCm39) |
V801F |
probably damaging |
Het |
Papln |
A |
G |
12: 83,824,234 (GRCm39) |
E554G |
probably benign |
Het |
Pitrm1 |
T |
C |
13: 6,605,495 (GRCm39) |
L175P |
probably damaging |
Het |
Pramel22 |
A |
T |
4: 143,382,053 (GRCm39) |
N214K |
probably damaging |
Het |
Pramel7 |
T |
C |
2: 87,320,070 (GRCm39) |
T408A |
probably damaging |
Het |
Setx |
T |
C |
2: 29,038,120 (GRCm39) |
V1535A |
probably benign |
Het |
Sgce |
A |
T |
6: 4,689,666 (GRCm39) |
V389E |
probably damaging |
Het |
Snx11 |
G |
A |
11: 96,659,888 (GRCm39) |
T267I |
probably benign |
Het |
Spata6l |
T |
G |
19: 28,921,688 (GRCm39) |
Q146P |
probably benign |
Het |
Specc1 |
G |
A |
11: 62,009,162 (GRCm39) |
S306N |
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
St7 |
T |
A |
6: 17,854,945 (GRCm39) |
V294D |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,880,920 (GRCm39) |
R624Q |
probably benign |
Het |
Tcf21 |
T |
C |
10: 22,695,403 (GRCm39) |
I134V |
probably benign |
Het |
Tgfb2 |
T |
A |
1: 186,364,697 (GRCm39) |
I266F |
probably damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,300,365 (GRCm39) |
I209M |
possibly damaging |
Het |
Tmcc3 |
A |
G |
10: 94,387,034 (GRCm39) |
|
probably null |
Het |
Toe1 |
A |
G |
4: 116,664,671 (GRCm39) |
S16P |
probably damaging |
Het |
Vps16 |
T |
C |
2: 130,279,601 (GRCm39) |
V38A |
possibly damaging |
Het |
Wnk2 |
G |
T |
13: 49,224,557 (GRCm39) |
D1001E |
probably damaging |
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 |
R4987:Serinc2
|
UTSW |
4 |
130,156,820 (GRCm39) |
splice site |
probably null |
|
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 |
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'- CAGAACACCCATGAGTAGCTGG -3'
(R):5'- CAAGCCCATGCAGTACTGTG -3'
Sequencing Primer
(F):5'- CCCATGAGTAGCTGGGGGAAAC -3'
(R):5'- CAGTACTGTGATGGTTTCCAGACAC -3'
|
Posted On |
2018-11-06 |