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: 0.083)
|
| 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 |
Incidental Mutation