Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02666:Serinc1'

302719

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serinc1

Ensembl Gene

ENSMUSG00000019877

Gene Name

serine incorporator 1

Synonyms

Tde2, TMS-2, 1500011D18Rik, Tde1l

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

IGL02666

Quality Score

Status

Chromosome

Chromosomal Location

57391870-57408573 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 57400089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020027] [ENSMUST00000169122] [ENSMUST00000170062]

AlphaFold

Q9QZI8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020027
AA Change: M186K

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020027
Gene: ENSMUSG00000019877
AA Change: M186K

Domain	Start	End	E-Value	Type
Pfam:Serinc	16	451	9.5e-178	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166997

Predicted Effect

probably null
Transcript: ENSMUST00000169122

SMART Domains

Protein: ENSMUSP00000126561
Gene: ENSMUSG00000019877

Domain	Start	End	E-Value	Type
Pfam:Serinc	15	152	1.9e-50	PFAM
Pfam:Serinc	149	220	6.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170062

SMART Domains

Protein: ENSMUSP00000127041
Gene: ENSMUSG00000019877

Domain	Start	End	E-Value	Type
Pfam:Serinc	15	113	9.1e-31	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male homozygous mutant mice exhibited signs of growth retardation including decreased mean body weight and length total tissue mass and lean body mass. No other notable phenotype was observed for the homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230109A22Rik	T	C	15: 25,138,944 (GRCm39)		noncoding transcript	Het
Abca15	G	A	7: 119,934,431 (GRCm39)	V136M	probably damaging	Het
Abhd3	A	G	18: 10,645,148 (GRCm39)	I382T	probably benign	Het
Cux1	C	A	5: 136,304,169 (GRCm39)	E1336*	probably null	Het
Cyb5r3	T	C	15: 83,044,554 (GRCm39)	I155V	probably damaging	Het
Ddx24	T	C	12: 103,390,314 (GRCm39)	T226A	possibly damaging	Het
Dld	T	C	12: 31,382,408 (GRCm39)	N465S	probably null	Het
Dnmbp	A	G	19: 43,842,566 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,818,111 (GRCm39)	H1580R	probably benign	Het
Drd3	C	A	16: 43,637,319 (GRCm39)		probably benign	Het
Gabrb2	G	T	11: 42,420,322 (GRCm39)		probably null	Het
Gbp9	T	C	5: 105,242,141 (GRCm39)		probably null	Het
Inhba	A	T	13: 16,201,664 (GRCm39)	I409F	possibly damaging	Het
Iqgap2	T	C	13: 95,764,564 (GRCm39)	N1560S	probably damaging	Het
Itsn1	A	G	16: 91,617,606 (GRCm39)		probably benign	Het
Kat6b	T	C	14: 21,678,938 (GRCm39)	F434L	probably damaging	Het
Klra1	A	G	6: 130,341,278 (GRCm39)	C232R	probably damaging	Het
Krt18	T	A	15: 101,938,302 (GRCm39)	I175N	probably damaging	Het
Lck	A	G	4: 129,450,212 (GRCm39)	V178A	probably damaging	Het
Mroh4	C	A	15: 74,481,624 (GRCm39)	G737V	probably benign	Het
Mug2	A	C	6: 122,058,285 (GRCm39)	L1282F	probably damaging	Het
Myo9a	A	G	9: 59,832,187 (GRCm39)	N2572S	probably benign	Het
Nup88	G	T	11: 70,834,695 (GRCm39)		probably benign	Het
Nxph3	G	T	11: 95,401,834 (GRCm39)	H193Q	possibly damaging	Het
Or5b97	G	T	19: 12,878,221 (GRCm39)	H308N	probably benign	Het
Orm2	A	G	4: 63,283,970 (GRCm39)	T198A	possibly damaging	Het
Pom121	T	C	5: 135,415,686 (GRCm39)	I397V	unknown	Het
Prex1	C	A	2: 166,414,909 (GRCm39)	E1313D	probably benign	Het
Prkg2	T	A	5: 99,145,378 (GRCm39)		probably benign	Het
Prl2a1	A	T	13: 27,990,310 (GRCm39)	K86N	possibly damaging	Het
Ptpro	G	A	6: 137,355,057 (GRCm39)	S188N	probably damaging	Het
Ptprz1	A	T	6: 23,001,209 (GRCm39)	I1100F	probably benign	Het
Ryr1	C	A	7: 28,719,188 (GRCm39)	M4406I	unknown	Het
Sdf4	T	A	4: 156,093,281 (GRCm39)	Y204*	probably null	Het
Slc39a5	C	T	10: 128,234,324 (GRCm39)	R193H	probably damaging	Het
Smad9	A	G	3: 54,689,888 (GRCm39)	K36R	probably damaging	Het
Spam1	T	A	6: 24,796,123 (GRCm39)	L25I	possibly damaging	Het
Stab2	A	T	10: 86,686,766 (GRCm39)	S809R	possibly damaging	Het
Szt2	G	A	4: 118,231,252 (GRCm39)	R35C	probably damaging	Het
Tcaf2	C	A	6: 42,606,058 (GRCm39)		probably benign	Het
Tfap2d	A	C	1: 19,174,979 (GRCm39)	D144A	probably benign	Het
Tmprss11d	A	T	5: 86,479,052 (GRCm39)	V117D	probably damaging	Het
Tnxb	A	G	17: 34,903,913 (GRCm39)	D1141G	probably benign	Het
Traf6	A	T	2: 101,527,512 (GRCm39)	T421S	possibly damaging	Het
Txndc16	G	A	14: 45,448,607 (GRCm39)		probably benign	Het
Utp25	G	A	1: 192,789,904 (GRCm39)	Q752*	probably null	Het
Vmn1r73	C	A	7: 11,490,865 (GRCm39)	P228T	probably damaging	Het
Vmn2r4	A	G	3: 64,296,433 (GRCm39)	I784T	probably benign	Het
Zfp420	A	G	7: 29,573,795 (GRCm39)	D5G	probably benign	Het

Other mutations in Serinc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02267:Serinc1	APN	10	57,399,204 (GRCm39)	missense	probably damaging	1.00
IGL02600:Serinc1	APN	10	57,399,127 (GRCm39)	missense	probably benign	0.23
IGL02829:Serinc1	APN	10	57,400,061 (GRCm39)	nonsense	probably null
IGL03109:Serinc1	APN	10	57,399,165 (GRCm39)	missense	probably benign	0.22
Olive	UTSW	10	57,393,306 (GRCm39)	missense	probably damaging	1.00
ANU74:Serinc1	UTSW	10	57,395,938 (GRCm39)	missense	probably benign	0.00
R0254:Serinc1	UTSW	10	57,399,304 (GRCm39)	missense	probably damaging	0.99
R0453:Serinc1	UTSW	10	57,393,306 (GRCm39)	missense	probably damaging	1.00
R0845:Serinc1	UTSW	10	57,401,479 (GRCm39)	missense	probably benign	0.39
R1912:Serinc1	UTSW	10	57,401,547 (GRCm39)	missense	probably benign	0.05
R1913:Serinc1	UTSW	10	57,395,561 (GRCm39)	missense	probably benign	0.01
R4820:Serinc1	UTSW	10	57,401,466 (GRCm39)	missense	possibly damaging	0.89
R4947:Serinc1	UTSW	10	57,399,141 (GRCm39)	missense	probably damaging	0.99
R5299:Serinc1	UTSW	10	57,399,147 (GRCm39)	missense	probably damaging	0.99
R5562:Serinc1	UTSW	10	57,400,147 (GRCm39)	nonsense	probably null
R5589:Serinc1	UTSW	10	57,399,262 (GRCm39)	missense	probably benign	0.01
R7182:Serinc1	UTSW	10	57,400,457 (GRCm39)	missense	probably benign	0.00
R7723:Serinc1	UTSW	10	57,403,918 (GRCm39)	missense	probably benign	0.08
R8742:Serinc1	UTSW	10	57,395,895 (GRCm39)	missense	probably benign	0.31
R8885:Serinc1	UTSW	10	57,395,864 (GRCm39)	missense	probably benign	0.00
R8912:Serinc1	UTSW	10	57,400,075 (GRCm39)	missense	probably benign	0.10
R9126:Serinc1	UTSW	10	57,395,577 (GRCm39)	missense	probably benign
Z1177:Serinc1	UTSW	10	57,399,106 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16