Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02551:Serinc2'

298095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serinc2

Ensembl Gene

ENSMUSG00000023232

Gene Name

serine incorporator 2

Synonyms

FKSG84, 2310004K20Rik, TDE2, Tde2l

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

130253495-130279205 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130260774 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 226 (I226V)

Ref Sequence

ENSEMBL: ENSMUSP00000113044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105996] [ENSMUST00000120126] [ENSMUST00000122374] [ENSMUST00000146478] [ENSMUST00000154846]

Predicted Effect

probably benign
Transcript: ENSMUST00000105996
AA Change: I217V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101618
Gene: ENSMUSG00000023232
AA Change: I217V

Domain	Start	End	E-Value	Type
Pfam:Serinc	15	449	4.1e-162	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120126
AA Change: I226V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113044
Gene: ENSMUSG00000023232
AA Change: I226V

Domain	Start	End	E-Value	Type
Pfam:Serinc	25	457	1.4e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122374
AA Change: I162V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112535
Gene: ENSMUSG00000023232
AA Change: I162V

Domain	Start	End	E-Value	Type
Pfam:Serinc	1	394	2.9e-148	PFAM

Predicted Effect

probably benign
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,969,048		noncoding transcript	Het
Abca8a	T	C	11: 110,084,242	I109V	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Adamts18	C	A	8: 113,699,072	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,870,038	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,543,233	T694A	probably damaging	Het
Adgra2	G	A	8: 27,119,222	V609I	probably benign	Het
Agbl3	A	G	6: 34,823,071	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,372,751	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,418,091	I245N	probably damaging	Het
Aqp9	A	G	9: 71,132,640	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,930,346	E465G	probably damaging	Het
Btrc	G	T	19: 45,423,134	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,133,100	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,152,912	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686	S25P	probably benign	Het
Dnajc6	T	A	4: 101,639,353	W838R	probably damaging	Het
Fam78a	T	A	2: 32,069,556	T181S	probably damaging	Het
Fat1	A	G	8: 45,051,398	T4600A	probably damaging	Het
Fbxo31	A	T	8: 121,566,344	Y101N	probably damaging	Het
Glmp	A	G	3: 88,325,082	M1V	probably null	Het
Gsdmc	T	A	15: 63,801,933	T168S	probably benign	Het
Has1	C	T	17: 17,848,298	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,454,811	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,484,902	M292I	probably benign	Het
Kmo	A	T	1: 175,637,919	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,813,548	T608I	possibly damaging	Het
Mical2	A	T	7: 112,323,990	N635I	probably benign	Het
Nags	T	C	11: 102,147,941	S403P	probably damaging	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Ncan	A	T	8: 70,102,462	N1018K	probably damaging	Het
Notch3	T	A	17: 32,154,731		probably benign	Het
Nup93	C	T	8: 94,227,833	Q53*	probably null	Het
Pdk2	T	A	11: 95,028,586	M288L	probably benign	Het
Pkd1	A	G	17: 24,573,815	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,403,870	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,299,094	D511V	possibly damaging	Het
Plin2	C	A	4: 86,658,692	M265I	probably benign	Het
Ppp6c	A	T	2: 39,206,657	F78I	probably damaging	Het
Prop1	A	T	11: 50,950,946	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,831,484	E222D	probably damaging	Het
Rtkn	A	T	6: 83,151,924	I454F	probably damaging	Het
Sh3bp1	T	A	15: 78,904,338	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,424,573	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,404,275		probably benign	Het
Spg7	G	A	8: 123,076,978	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916	D40G	probably benign	Het
Tmcc2	A	G	1: 132,357,579	L683P	probably damaging	Het
Triobp	T	C	15: 78,973,489	S1097P	probably benign	Het
Tspan9	T	C	6: 127,965,763	D167G	probably null	Het
Ttll6	T	C	11: 96,154,700	I581T	probably benign	Het
Usp29	A	G	7: 6,963,353		probably null	Het
Vgll4	A	G	6: 114,862,293	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,026,141	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,788,506	T185A	probably benign	Het
Vwce	A	G	19: 10,645,036	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462	E2194G	possibly damaging	Het

Other mutations in Serinc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Serinc2	APN	4	130264408	missense	possibly damaging	0.88
IGL02031:Serinc2	APN	4	130264444	nonsense	probably null
R1455:Serinc2	UTSW	4	130264340	missense	probably damaging	0.96
R1520:Serinc2	UTSW	4	130260750	missense	probably benign	0.00
R2059:Serinc2	UTSW	4	130260785	missense	probably damaging	1.00
R2869:Serinc2	UTSW	4	130265212	missense	probably damaging	1.00
R2869:Serinc2	UTSW	4	130265212	missense	probably damaging	1.00
R3160:Serinc2	UTSW	4	130260735	missense	probably benign
R3162:Serinc2	UTSW	4	130260735	missense	probably benign
R4497:Serinc2	UTSW	4	130254054	missense	possibly damaging	0.67
R4735:Serinc2	UTSW	4	130263645	missense	probably benign	0.13
R4987:Serinc2	UTSW	4	130263027	splice site	probably null
R5569:Serinc2	UTSW	4	130278479	missense	probably benign	0.17
R5681:Serinc2	UTSW	4	130265076	missense	probably damaging	1.00
R5946:Serinc2	UTSW	4	130255521	missense	possibly damaging	0.91
R6556:Serinc2	UTSW	4	130258271	missense	probably damaging	1.00
R6898:Serinc2	UTSW	4	130255442	missense	probably benign	0.13
R7264:Serinc2	UTSW	4	130258259	missense	probably benign	0.00
R7526:Serinc2	UTSW	4	130258790	missense	probably benign	0.03
R7835:Serinc2	UTSW	4	130275487	missense	unknown
Z1176:Serinc2	UTSW	4	130253995	missense	probably damaging	1.00

Posted On

2015-04-16