Incidental Mutation 'R4497:Serinc2'
ID |
331018 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serinc2
|
Ensembl Gene |
ENSMUSG00000023232 |
Gene Name |
serine incorporator 2 |
Synonyms |
Tde2l, 2310004K20Rik, FKSG84, TDE2 |
MMRRC Submission |
041750-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R4497 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
130147289-130172993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 130147847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 410
(T410N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101618
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105996]
[ENSMUST00000120126]
[ENSMUST00000122374]
|
AlphaFold |
Q8K0E7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105996
AA Change: T410N
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101618 Gene: ENSMUSG00000023232 AA Change: T410N
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
15 |
449 |
4.1e-162 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120126
AA Change: T419N
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113044 Gene: ENSMUSG00000023232 AA Change: T419N
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
25 |
457 |
1.4e-158 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122374
AA Change: T355N
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000112535 Gene: ENSMUSG00000023232 AA Change: T355N
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
1 |
394 |
2.9e-148 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
Adat1 |
T |
C |
8: 112,705,994 (GRCm39) |
S371G |
probably benign |
Het |
Aoc3 |
T |
G |
11: 101,222,871 (GRCm39) |
I369R |
possibly damaging |
Het |
Apobr |
A |
T |
7: 126,186,694 (GRCm39) |
|
probably null |
Het |
Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
Astn2 |
A |
G |
4: 66,037,300 (GRCm39) |
|
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,248,741 (GRCm39) |
D60G |
probably damaging |
Het |
Cacnb4 |
T |
A |
2: 52,367,783 (GRCm39) |
D62V |
probably damaging |
Het |
Cbx8 |
C |
A |
11: 118,931,618 (GRCm39) |
R20L |
probably damaging |
Het |
Ccdc92 |
G |
A |
5: 124,913,337 (GRCm39) |
T64M |
probably benign |
Het |
Cps1 |
G |
T |
1: 67,244,358 (GRCm39) |
S1135I |
probably null |
Het |
Eml2 |
G |
A |
7: 18,913,275 (GRCm39) |
R91H |
probably damaging |
Het |
Fbxl3 |
G |
A |
14: 103,320,313 (GRCm39) |
P426L |
probably damaging |
Het |
Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
Gabrb2 |
T |
C |
11: 42,488,521 (GRCm39) |
I329T |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,898,156 (GRCm39) |
D745E |
possibly damaging |
Het |
Itprid2 |
T |
A |
2: 79,488,164 (GRCm39) |
V749E |
probably damaging |
Het |
Lacc1 |
T |
A |
14: 77,271,470 (GRCm39) |
N239I |
probably damaging |
Het |
Lamb2 |
T |
A |
9: 108,363,997 (GRCm39) |
C1008S |
probably damaging |
Het |
Man2b1 |
G |
A |
8: 85,817,565 (GRCm39) |
V349I |
probably benign |
Het |
Mib1 |
A |
G |
18: 10,811,985 (GRCm39) |
T961A |
possibly damaging |
Het |
Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
Or13c7b |
A |
G |
4: 43,821,175 (GRCm39) |
F62S |
probably damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,122 (GRCm39) |
C115S |
probably benign |
Het |
Pgr |
A |
G |
9: 8,958,420 (GRCm39) |
E809G |
probably damaging |
Het |
Ppp1r3g |
T |
A |
13: 36,153,603 (GRCm39) |
V341E |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,518,517 (GRCm39) |
S1091T |
probably benign |
Het |
Rab44 |
G |
A |
17: 29,358,871 (GRCm39) |
R353K |
probably benign |
Het |
Reck |
G |
A |
4: 43,891,001 (GRCm39) |
M46I |
probably benign |
Het |
Rorb |
G |
T |
19: 18,954,992 (GRCm39) |
S208Y |
possibly damaging |
Het |
Slc23a2 |
G |
A |
2: 131,898,702 (GRCm39) |
R612* |
probably null |
Het |
Slx4 |
T |
C |
16: 3,812,773 (GRCm39) |
E145G |
probably damaging |
Het |
Spag16 |
A |
G |
1: 70,532,989 (GRCm39) |
D556G |
probably damaging |
Het |
Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
Tmf1 |
A |
T |
6: 97,149,293 (GRCm39) |
F485I |
probably benign |
Het |
Trmo |
C |
T |
4: 46,382,140 (GRCm39) |
V326M |
probably damaging |
Het |
Tssk5 |
T |
C |
15: 76,256,411 (GRCm39) |
D336G |
probably damaging |
Het |
Ttyh2 |
A |
T |
11: 114,601,789 (GRCm39) |
Q471L |
possibly damaging |
Het |
Wdr33 |
A |
C |
18: 32,026,132 (GRCm39) |
Q944H |
unknown |
Het |
Wdr55 |
G |
A |
18: 36,893,448 (GRCm39) |
V37M |
possibly damaging |
Het |
Zbtb18 |
A |
T |
1: 177,274,687 (GRCm39) |
S7C |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,464,680 (GRCm39) |
V1638M |
possibly damaging |
Het |
Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly 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 |
|
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 |
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'- AATGGAGAATCCTGACTTGAGCG -3'
(R):5'- TAGGTCAGGTGTCTCCAGTG -3'
Sequencing Primer
(F):5'- AATCCTGACTTGAGCGGGTCC -3'
(R):5'- CAGGTGTCTCCAGTGTGAAGC -3'
|
Posted On |
2015-07-21 |