Mutagenetix > Incidental Mutation

Incidental Mutation 'R1181:Serinc3'

101540

Institutional Source

Beutler Lab

Gene Symbol

Serinc3

Ensembl Gene

ENSMUSG00000017707

Gene Name

serine incorporator 3

Synonyms

DIFF33, TMS-1, Tde1, AIGP1

MMRRC Submission

039253-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163466577-163487767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163467446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 445 (K445R)

Ref Sequence

ENSEMBL: ENSMUSP00000017851 (fasta)

Gene Model

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

AlphaFold

Q9QZI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000017851
AA Change: K445R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017851
Gene: ENSMUSG00000017707
AA Change: K445R

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

Meta Mutation Damage Score

0.7522

Coding Region Coverage

1x: 99.3%
3x: 97.9%
10x: 93.9%
20x: 84.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	A	19: 4,922,638 (GRCm39)	Q64L	probably benign	Het
Ankrd12	T	C	17: 66,349,569 (GRCm39)	N88S	probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Bnipl	C	A	3: 95,152,960 (GRCm39)		probably null	Het
Bod1	T	C	11: 31,616,943 (GRCm39)		probably benign	Het
Cbarp	G	T	10: 79,971,328 (GRCm39)	H166N	probably damaging	Het
Cdr2l	T	A	11: 115,285,005 (GRCm39)	I447N	probably damaging	Het
Cped1	T	G	6: 22,215,561 (GRCm39)	I698M	probably damaging	Het
Ecm1	G	A	3: 95,642,662 (GRCm39)	H404Y	possibly damaging	Het
Ehbp1	C	T	11: 22,012,831 (GRCm39)	V902I	probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fastk	C	T	5: 24,646,729 (GRCm39)		probably null	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgf	G	C	5: 16,823,923 (GRCm39)	G707R	probably damaging	Het
Klhl5	T	C	5: 65,320,228 (GRCm39)	M594T	probably damaging	Het
Kyat3	A	C	3: 142,443,531 (GRCm39)		probably null	Het
Mettl14	C	T	3: 123,167,651 (GRCm39)	G236S	probably damaging	Het
Nob1	G	A	8: 108,148,122 (GRCm39)	P107S	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2a56	T	A	6: 42,932,492 (GRCm39)	L20Q	probably benign	Het
Or52e7	T	A	7: 104,685,021 (GRCm39)	N205K	probably damaging	Het
Or52n4b	C	A	7: 108,144,509 (GRCm39)	T257N	probably benign	Het
Or5b109	C	A	19: 13,212,195 (GRCm39)	H194N	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or6c65	A	G	10: 129,604,033 (GRCm39)	I223V	probably benign	Het
Pald1	A	G	10: 61,183,366 (GRCm39)		probably benign	Het
Pds5a	A	T	5: 65,784,545 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slfn8	T	C	11: 82,907,571 (GRCm39)	E324G	probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Tas2r121	A	T	6: 132,677,132 (GRCm39)	I280N	probably damaging	Het
Tbc1d7	T	C	13: 43,306,615 (GRCm39)	I242M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tnni3k	A	T	3: 154,581,150 (GRCm39)	H600Q	probably damaging	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Tulp3	A	T	6: 128,302,915 (GRCm39)	H301Q	possibly damaging	Het
Ubqln5	T	A	7: 103,777,948 (GRCm39)	Q292L	probably damaging	Het
Zfp454	T	C	11: 50,764,413 (GRCm39)	K229E	probably damaging	Het

Other mutations in Serinc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Serinc3	APN	2	163,469,921 (GRCm39)	missense	probably damaging	1.00
IGL01152:Serinc3	APN	2	163,478,831 (GRCm39)	missense	probably damaging	0.99
IGL02879:Serinc3	APN	2	163,474,172 (GRCm39)	splice site	probably benign
IGL02945:Serinc3	APN	2	163,472,836 (GRCm39)	splice site	probably benign
R0783:Serinc3	UTSW	2	163,478,923 (GRCm39)	missense	possibly damaging	0.95
R1848:Serinc3	UTSW	2	163,487,409 (GRCm39)	unclassified	probably benign
R4254:Serinc3	UTSW	2	163,478,888 (GRCm39)	missense	probably benign
R6225:Serinc3	UTSW	2	163,469,799 (GRCm39)	missense	probably damaging	1.00
R6271:Serinc3	UTSW	2	163,472,896 (GRCm39)	missense	probably benign	0.15
R6860:Serinc3	UTSW	2	163,476,366 (GRCm39)	missense	probably benign
R6986:Serinc3	UTSW	2	163,469,891 (GRCm39)	missense	probably benign	0.00
R7060:Serinc3	UTSW	2	163,478,879 (GRCm39)	missense	probably benign	0.01
R7618:Serinc3	UTSW	2	163,472,889 (GRCm39)	missense	possibly damaging	0.88
R9223:Serinc3	UTSW	2	163,478,812 (GRCm39)	missense	probably benign	0.26
R9274:Serinc3	UTSW	2	163,468,371 (GRCm39)	missense	probably damaging	1.00
R9766:Serinc3	UTSW	2	163,471,095 (GRCm39)	missense	probably damaging	1.00
T0970:Serinc3	UTSW	2	163,469,835 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGCATCAAGCATTACTCAATCTTGCC -3'
(R):5'- AGTAGCTTCTCAGCTCCGTACTAGAAC -3'

Sequencing Primer
(F):5'- GCAAAGCGTTCACTTAATAGTCTCG -3'
(R):5'- GCTCCGTACTAGAACAGTACTAGG -3'

Posted On

2014-01-15