Incidental Mutation 'IGL00913:Serinc2'
ID |
27229 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serinc2
|
Ensembl Gene |
ENSMUSG00000023232 |
Gene Name |
serine incorporator 2 |
Synonyms |
Tde2l, 2310004K20Rik, FKSG84, TDE2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
IGL00913
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
130147289-130172993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 130158201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 82
(L82Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101618
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105996]
[ENSMUST00000120126]
[ENSMUST00000122374]
[ENSMUST00000146478]
[ENSMUST00000154846]
|
AlphaFold |
Q8K0E7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105996
AA Change: L82Q
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101618 Gene: ENSMUSG00000023232 AA Change: L82Q
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
15 |
449 |
4.1e-162 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120126
AA Change: L91Q
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113044 Gene: ENSMUSG00000023232 AA Change: L91Q
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
25 |
457 |
1.4e-158 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122374
AA Change: L27Q
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112535 Gene: ENSMUSG00000023232 AA Change: L27Q
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
1 |
394 |
2.9e-148 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146478
AA Change: L27Q
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115198 Gene: ENSMUSG00000023232 AA Change: L27Q
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
1 |
148 |
1.9e-56 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154846
AA Change: L27Q
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116586 Gene: ENSMUSG00000023232 AA Change: L27Q
Domain | Start | End | E-Value | Type |
Pfam:Serinc
|
1 |
82 |
3.3e-26 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
A |
G |
17: 42,977,793 (GRCm39) |
S517P |
possibly damaging |
Het |
Arl4c |
T |
C |
1: 88,629,106 (GRCm39) |
D94G |
probably damaging |
Het |
Bag5 |
T |
C |
12: 111,677,766 (GRCm39) |
E19G |
probably damaging |
Het |
Carf |
T |
A |
1: 60,187,114 (GRCm39) |
D537E |
probably benign |
Het |
Cd177 |
C |
A |
7: 24,455,620 (GRCm39) |
D301Y |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,121,301 (GRCm39) |
V1799I |
probably benign |
Het |
Cyp4x1 |
T |
A |
4: 114,970,060 (GRCm39) |
I356F |
probably benign |
Het |
F5 |
A |
T |
1: 164,032,465 (GRCm39) |
H1804L |
probably damaging |
Het |
Fras1 |
G |
T |
5: 96,842,935 (GRCm39) |
G1718C |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,269,933 (GRCm39) |
|
probably benign |
Het |
Hs3st5 |
A |
G |
10: 36,708,846 (GRCm39) |
D127G |
probably damaging |
Het |
Inpp5a |
A |
G |
7: 139,096,637 (GRCm39) |
D154G |
probably benign |
Het |
Kif16b |
T |
A |
2: 142,545,927 (GRCm39) |
R1134* |
probably null |
Het |
Lrrc66 |
C |
T |
5: 73,765,499 (GRCm39) |
A515T |
possibly damaging |
Het |
Map3k10 |
C |
T |
7: 27,362,640 (GRCm39) |
|
probably benign |
Het |
Mideas |
T |
A |
12: 84,219,632 (GRCm39) |
I441L |
probably benign |
Het |
Mrpl12 |
G |
A |
11: 120,376,202 (GRCm39) |
D71N |
possibly damaging |
Het |
Nfix |
A |
T |
8: 85,453,106 (GRCm39) |
V316E |
probably damaging |
Het |
Nop2 |
A |
G |
6: 125,116,784 (GRCm39) |
Y346C |
probably damaging |
Het |
Nrbp1 |
A |
G |
5: 31,408,403 (GRCm39) |
E513G |
possibly damaging |
Het |
Ogfrl1 |
T |
C |
1: 23,409,171 (GRCm39) |
I352V |
probably benign |
Het |
Or7a35 |
A |
G |
10: 78,854,085 (GRCm39) |
T310A |
probably benign |
Het |
Or8b48 |
T |
A |
9: 38,492,672 (GRCm39) |
V33E |
probably damaging |
Het |
Oxr1 |
G |
A |
15: 41,683,539 (GRCm39) |
V15I |
possibly damaging |
Het |
Pik3r6 |
T |
G |
11: 68,442,147 (GRCm39) |
F697C |
probably damaging |
Het |
Ptk2 |
A |
G |
15: 73,167,238 (GRCm39) |
|
probably benign |
Het |
Rnft2 |
G |
A |
5: 118,339,280 (GRCm39) |
T380M |
probably damaging |
Het |
Scel |
A |
G |
14: 103,819,245 (GRCm39) |
N346S |
probably benign |
Het |
Sema4a |
T |
A |
3: 88,357,117 (GRCm39) |
T153S |
probably damaging |
Het |
Sin3a |
A |
G |
9: 57,005,402 (GRCm39) |
T392A |
probably benign |
Het |
Slc25a38 |
T |
A |
9: 119,949,373 (GRCm39) |
Y108* |
probably null |
Het |
Tmc8 |
G |
A |
11: 117,677,330 (GRCm39) |
G317R |
probably damaging |
Het |
Trpc3 |
A |
G |
3: 36,694,788 (GRCm39) |
V722A |
possibly damaging |
Het |
Unc93a2 |
A |
T |
17: 7,637,138 (GRCm39) |
V130D |
probably damaging |
Het |
|
Other mutations in Serinc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-04-17 |