Mutagenetix > Incidental Mutation

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

Tde2l, 2310004K20Rik, FKSG84, TDE2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

130147289-130172993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130154567 bp (GRCm39)

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]

AlphaFold

Q8K0E7

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: 158,796,618 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,975,068 (GRCm39)	I109V	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Adamts18	C	A	8: 114,425,704 (GRCm39)	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,666,926 (GRCm39)	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,370,802 (GRCm39)	T694A	probably damaging	Het
Adgra2	G	A	8: 27,609,250 (GRCm39)	V609I	probably benign	Het
Agbl3	A	G	6: 34,800,006 (GRCm39)	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,505,822 (GRCm39)	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,554,599 (GRCm39)	I245N	probably damaging	Het
Aqp9	A	G	9: 71,039,922 (GRCm39)	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,579,553 (GRCm39)	E465G	probably damaging	Het
Btrc	G	T	19: 45,411,573 (GRCm39)	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,121,539 (GRCm39)	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,102,912 (GRCm39)	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686 (GRCm39)	S25P	probably benign	Het
Dnajc6	T	A	4: 101,496,550 (GRCm39)	W838R	probably damaging	Het
Fam78a	T	A	2: 31,959,568 (GRCm39)	T181S	probably damaging	Het
Fat1	A	G	8: 45,504,435 (GRCm39)	T4600A	probably damaging	Het
Fbxo31	A	T	8: 122,293,083 (GRCm39)	Y101N	probably damaging	Het
Glmp	A	G	3: 88,232,389 (GRCm39)	M1V	probably null	Het
Gsdmc	T	A	15: 63,673,782 (GRCm39)	T168S	probably benign	Het
Has1	C	T	17: 18,068,560 (GRCm39)	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,344,823 (GRCm39)	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,369,103 (GRCm39)	M292I	probably benign	Het
Kmo	A	T	1: 175,465,485 (GRCm39)	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,961,414 (GRCm39)	T608I	possibly damaging	Het
Mical2	A	T	7: 111,923,197 (GRCm39)	N635I	probably benign	Het
Nags	T	C	11: 102,038,767 (GRCm39)	S403P	probably damaging	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Ncan	A	T	8: 70,555,112 (GRCm39)	N1018K	probably damaging	Het
Notch3	T	A	17: 32,373,705 (GRCm39)		probably benign	Het
Nup93	C	T	8: 94,954,461 (GRCm39)	Q53*	probably null	Het
Pdk2	T	A	11: 94,919,412 (GRCm39)	M288L	probably benign	Het
Pkd1	A	G	17: 24,792,789 (GRCm39)	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,239,692 (GRCm39)	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,183,294 (GRCm39)	D511V	possibly damaging	Het
Plin2	C	A	4: 86,576,929 (GRCm39)	M265I	probably benign	Het
Ppp6c	A	T	2: 39,096,669 (GRCm39)	F78I	probably damaging	Het
Prop1	A	T	11: 50,841,773 (GRCm39)	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,988,828 (GRCm39)	E222D	probably damaging	Het
Rtkn	A	T	6: 83,128,905 (GRCm39)	I454F	probably damaging	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,266,493 (GRCm39)	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,240,136 (GRCm39)		probably benign	Het
Spg7	G	A	8: 123,803,717 (GRCm39)	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916 (GRCm39)	D40G	probably benign	Het
Tmcc2	A	G	1: 132,285,317 (GRCm39)	L683P	probably damaging	Het
Triobp	T	C	15: 78,857,689 (GRCm39)	S1097P	probably benign	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Ttll6	T	C	11: 96,045,526 (GRCm39)	I581T	probably benign	Het
Usp29	A	G	7: 6,966,352 (GRCm39)		probably null	Het
Vgll4	A	G	6: 114,839,254 (GRCm39)	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,003,100 (GRCm39)	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,437,930 (GRCm39)	T185A	probably benign	Het
Vwce	A	G	19: 10,622,400 (GRCm39)	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462 (GRCm39)	E2194G	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
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

2015-04-16