Mutagenetix > Incidental Mutation

Incidental Mutation 'R0783:Serinc3'

76711

Institutional Source

Beutler Lab

Gene Symbol

Serinc3

Ensembl Gene

ENSMUSG00000017707

Gene Name

serine incorporator 3

Synonyms

AIGP1, DIFF33, TMS-1, Tde1

MMRRC Submission

038963-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163623272-163645131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163637003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 68 (I68T)

Ref Sequence

ENSEMBL: ENSMUSP00000017851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017851]

AlphaFold

Q9QZI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017851
AA Change: I68T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000017851
Gene: ENSMUSG00000017707
AA Change: I68T

Domain	Start	End	E-Value	Type
Pfam:Serinc	16	470	9e-168	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129854

Meta Mutation Damage Score

0.4218

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,294,157	G1277R	probably damaging	Het
Abi3bp	A	G	16: 56,595,238		probably null	Het
Acsm2	G	A	7: 119,573,117	G61D	probably damaging	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Bbs9	T	C	9: 22,567,714	L151S	possibly damaging	Het
Camk2g	T	A	14: 20,744,636	T173S	possibly damaging	Het
Eif3b	T	C	5: 140,419,837		probably benign	Het
Eif3i	A	C	4: 129,592,076	F319V	possibly damaging	Het
Eprs	T	C	1: 185,398,458	L672P	probably damaging	Het
Fras1	C	T	5: 96,768,430	A3441V	probably damaging	Het
Gigyf2	T	A	1: 87,407,161	M79K	probably damaging	Het
Grrp1	G	A	4: 134,252,057	R37C	probably damaging	Het
Hdac1	T	C	4: 129,518,109	N331S	probably benign	Het
Hmcn1	C	T	1: 150,650,073	G3300S	probably damaging	Het
Iars2	T	C	1: 185,320,874	E400G	probably damaging	Het
Irx2	T	C	13: 72,632,650		probably null	Het
Itih4	G	A	14: 30,895,423	E567K	possibly damaging	Het
Klhl5	T	A	5: 65,156,253		probably benign	Het
Klk8	G	A	7: 43,802,197	G204E	probably damaging	Het
Loxhd1	T	C	18: 77,429,984	F1843L	possibly damaging	Het
Mllt6	T	C	11: 97,665,745	V87A	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nhlrc3	A	T	3: 53,462,449	S34T	probably benign	Het
Olfr1099	A	G	2: 86,958,562	C299R	probably benign	Het
Olfr1224-ps1	A	T	2: 89,156,891	C95S	probably benign	Het
Olfr1494	T	C	19: 13,749,676	L190P	probably damaging	Het
Olfr193	A	T	16: 59,110,169	L147*	probably null	Het
Olfr549	A	G	7: 102,554,439	I52V	probably benign	Het
Olfr593	T	C	7: 103,212,670	F259S	probably damaging	Het
Pcnx4	T	C	12: 72,575,478	W1074R	probably damaging	Het
Pcsk9	T	C	4: 106,450,117	T310A	probably benign	Het
Pfas	A	G	11: 69,000,521	L250P	probably damaging	Het
Plk5	T	A	10: 80,361,130	D352E	probably benign	Het
Ryr3	A	G	2: 112,756,327		probably benign	Het
Sez6l2	A	G	7: 126,967,145	T810A	possibly damaging	Het
Tmprss7	G	A	16: 45,667,606	Q487*	probably null	Het
Tnf	A	G	17: 35,201,674	I56T	probably damaging	Het
Ttbk2	A	T	2: 120,739,977	S1163T	possibly damaging	Het
Ttn	G	A	2: 76,743,530	T23927I	probably damaging	Het
Urb1	G	A	16: 90,810,297	A15V	possibly damaging	Het
Zfp128	C	T	7: 12,890,272	P189L	probably damaging	Het
Zfr	T	C	15: 12,162,182	V806A	probably damaging	Het

Other mutations in Serinc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Serinc3	APN	2	163628001	missense	probably damaging	1.00
IGL01152:Serinc3	APN	2	163636911	missense	probably damaging	0.99
IGL02879:Serinc3	APN	2	163632252	splice site	probably benign
IGL02945:Serinc3	APN	2	163630916	splice site	probably benign
R1181:Serinc3	UTSW	2	163625526	missense	probably damaging	1.00
R1848:Serinc3	UTSW	2	163645489	unclassified	probably benign
R4254:Serinc3	UTSW	2	163636968	missense	probably benign
R6225:Serinc3	UTSW	2	163627879	missense	probably damaging	1.00
R6271:Serinc3	UTSW	2	163630976	missense	probably benign	0.15
R6860:Serinc3	UTSW	2	163634446	missense	probably benign
R6986:Serinc3	UTSW	2	163627971	missense	probably benign	0.00
R7060:Serinc3	UTSW	2	163636959	missense	probably benign	0.01
R7618:Serinc3	UTSW	2	163630969	missense	possibly damaging	0.88
R9223:Serinc3	UTSW	2	163636892	missense	probably benign	0.26
R9274:Serinc3	UTSW	2	163626451	missense	probably damaging	1.00
R9766:Serinc3	UTSW	2	163629175	missense	probably damaging	1.00
T0970:Serinc3	UTSW	2	163627915	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGCTGAGGGAGAGGAACCACA -3'
(R):5'- AGGAAGGCTGGTGGCCCAA -3'

Sequencing Primer
(F):5'- GACAATCTCACATACCCGTTG -3'
(R):5'- gtcatcttacttcagcctccc -3'

Posted On

2013-10-16