Mutagenetix > Incidental Mutation

Incidental Mutation 'R4254:Serinc3'

321730

Institutional Source

Beutler Lab

Gene Symbol

Serinc3

Ensembl Gene

ENSMUSG00000017707

Gene Name

serine incorporator 3

Synonyms

DIFF33, TMS-1, Tde1, AIGP1

MMRRC Submission

041067-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163466577-163487767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 163478888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 80 (M80L)

Ref Sequence

ENSEMBL: ENSMUSP00000017851 (fasta)

Gene Model

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

AlphaFold

Q9QZI9

Predicted Effect

probably benign
Transcript: ENSMUST00000017851
AA Change: M80L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000017851
Gene: ENSMUSG00000017707
AA Change: M80L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129854

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	G	8: 95,732,530 (GRCm39)		probably null	Het
Adgrg2	T	G	X: 159,265,404 (GRCm39)	S551R	possibly damaging	Het
Anapc2	T	C	2: 25,163,357 (GRCm39)	V198A	probably benign	Het
Asxl3	T	C	18: 22,657,423 (GRCm39)	I1811T	possibly damaging	Het
Atp5mc3	A	C	2: 73,740,319 (GRCm39)		probably benign	Het
Ccdc27	A	C	4: 154,123,976 (GRCm39)	S186A	unknown	Het
Ccdc28a	A	G	10: 18,100,683 (GRCm39)	L48P	probably damaging	Het
Cdh19	C	T	1: 110,852,760 (GRCm39)	A392T	probably damaging	Het
Cfap65	T	C	1: 74,942,517 (GRCm39)	D1679G	probably benign	Het
Copa	C	T	1: 171,929,811 (GRCm39)	R293C	probably damaging	Het
Depdc1a	A	G	3: 159,204,124 (GRCm39)	R58G	probably damaging	Het
Dnah5	T	A	15: 28,438,248 (GRCm39)	S3960T	probably benign	Het
Dsg4	A	T	18: 20,604,595 (GRCm39)	T1021S	probably benign	Het
Hrh1	T	A	6: 114,456,962 (GRCm39)	M81K	probably damaging	Het
Ipo11	G	A	13: 107,029,017 (GRCm39)	T312I	probably benign	Het
Itgb2l	T	C	16: 96,231,777 (GRCm39)	N330D	probably benign	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kcnb1	A	G	2: 166,947,651 (GRCm39)	I399T	probably damaging	Het
Muc13	G	A	16: 33,636,221 (GRCm39)	M568I	probably benign	Het
Nlrp1a	A	C	11: 71,013,854 (GRCm39)	Y465*	probably null	Het
Nwd2	G	A	5: 63,963,889 (GRCm39)	V1158I	possibly damaging	Het
Or2h1b	A	G	17: 37,462,530 (GRCm39)	I111T	possibly damaging	Het
Or5d14	C	T	2: 87,880,123 (GRCm39)	V282I	possibly damaging	Het
Or8b101	T	A	9: 38,020,546 (GRCm39)	L183H	probably damaging	Het
Ptprr	T	A	10: 115,998,348 (GRCm39)		probably null	Het
Rasd2	G	A	8: 75,948,538 (GRCm39)	E155K	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sf1	T	C	19: 6,421,677 (GRCm39)	V140A	probably damaging	Het
Slc15a2	A	T	16: 36,574,852 (GRCm39)	V519E	probably benign	Het
Slc16a10	A	G	10: 39,952,997 (GRCm39)	Y166H	probably damaging	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Smim29	A	T	17: 27,784,696 (GRCm39)		probably null	Het
Tmbim1	C	A	1: 74,333,090 (GRCm39)	V92F	probably damaging	Het
Vsig4	C	A	X: 95,334,107 (GRCm39)	R134L	probably benign	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
R1181:Serinc3	UTSW	2	163,467,446 (GRCm39)	missense	probably damaging	1.00
R1848:Serinc3	UTSW	2	163,487,409 (GRCm39)	unclassified	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'- CAATGGCATATTATCTGCTGAGGGAG -3'
(R):5'- TTGTAGTCAGTTGGAAGTCAAAGAG -3'

Sequencing Primer
(F):5'- TATTATCTGCTGAGGGAGAGGAACC -3'
(R):5'- TCAGTTGGAAGTCAAAGAGAAAAATC -3'

Posted On

2015-06-20