Mutagenetix > Incidental Mutation

Incidental Mutation 'R0944:Serinc5'

82021

Institutional Source

Beutler Lab

Gene Symbol

Serinc5

Ensembl Gene

ENSMUSG00000021703

Gene Name

serine incorporator 5

Synonyms

AIGP3, TPO1, A130038L21Rik

MMRRC Submission

039083-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R0944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92747646-92848455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92797613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 39 (Y39H)

Ref Sequence

ENSEMBL: ENSMUSP00000047547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049488]

AlphaFold

Q8BHJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000049488
AA Change: Y39H

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

SMART Domains

Protein: ENSMUSP00000047547
Gene: ENSMUSG00000021703
AA Change: Y39H

Domain	Start	End	E-Value	Type
Pfam:Serinc	12	458	6.8e-155	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224250

Meta Mutation Damage Score

0.8412

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	G	A	12: 107,455,268 (GRCm39)	R118K	unknown	Het
Abcc6	T	A	7: 45,664,929 (GRCm39)	I301F	possibly damaging	Het
Akap9	C	A	5: 4,114,742 (GRCm39)		probably null	Het
Alg6	A	G	4: 99,650,297 (GRCm39)	I506V	probably benign	Het
B3gat1	C	T	9: 26,668,237 (GRCm39)	R276C	probably damaging	Het
Camk1	A	G	6: 113,315,352 (GRCm39)	Y105H	probably damaging	Het
Ccdc81	T	C	7: 89,515,777 (GRCm39)	N634S	probably damaging	Het
Clcn1	C	A	6: 42,290,075 (GRCm39)	Q837K	probably benign	Het
Clec16a	A	G	16: 10,506,510 (GRCm39)		probably benign	Het
Col22a1	T	C	15: 71,753,511 (GRCm39)	I130V	probably benign	Het
Coro2b	T	C	9: 62,335,263 (GRCm39)	S308G	probably benign	Het
Cpxm1	A	G	2: 130,239,423 (GRCm39)	W2R	probably damaging	Het
Csmd3	T	C	15: 47,475,227 (GRCm39)	N3364S	probably damaging	Het
Dgkq	A	G	5: 108,804,331 (GRCm39)	V131A	probably damaging	Het
Dnai1	A	G	4: 41,629,997 (GRCm39)	S469G	probably benign	Het
Efcab3	T	G	11: 104,601,556 (GRCm39)		probably null	Het
Eml4	G	A	17: 83,785,489 (GRCm39)	E885K	probably benign	Het
Etfa	A	T	9: 55,396,122 (GRCm39)	I148N	probably damaging	Het
Gpbar1	A	G	1: 74,318,681 (GRCm39)	D308G	probably benign	Het
Gprin3	T	C	6: 59,330,900 (GRCm39)	E469G	possibly damaging	Het
Igkv1-115	T	C	6: 68,138,667 (GRCm39)	V90A	probably damaging	Het
Ints2	A	G	11: 86,135,289 (GRCm39)	V375A	possibly damaging	Het
Mindy3	T	C	2: 12,400,993 (GRCm39)	M242V	possibly damaging	Het
Or11m3	A	G	15: 98,395,565 (GRCm39)	I71V	probably benign	Het
Or1n1b	T	C	2: 36,780,698 (GRCm39)	H54R	probably damaging	Het
Or5t9	A	C	2: 86,659,281 (GRCm39)	I62L	probably benign	Het
P3h1	G	A	4: 119,095,956 (GRCm39)	E355K	probably benign	Het
Paxbp1	T	C	16: 90,820,315 (GRCm39)	T703A	probably benign	Het
Pcdh15	A	T	10: 74,046,302 (GRCm39)	Y193F	probably damaging	Het
Pdxdc1	A	G	16: 13,656,233 (GRCm39)	V613A	probably damaging	Het
Plekha5	T	C	6: 140,515,922 (GRCm39)		probably benign	Het
Pmel	A	T	10: 128,551,126 (GRCm39)	Q123L	possibly damaging	Het
Prl6a1	T	C	13: 27,502,149 (GRCm39)		probably benign	Het
Rcan1	T	C	16: 92,190,379 (GRCm39)	T187A	probably damaging	Het
Rp1l1	A	G	14: 64,269,681 (GRCm39)	S1756G	probably benign	Het
Runx2	A	T	17: 44,919,123 (GRCm39)	M405K	probably damaging	Het
Sgsm1	G	A	5: 113,413,740 (GRCm39)	T676I	probably benign	Het
Slc6a15	G	C	10: 103,245,657 (GRCm39)	V547L	probably benign	Het
Slk	T	C	19: 47,597,432 (GRCm39)	I80T	probably damaging	Het
Spice1	A	G	16: 44,205,124 (GRCm39)	N810S	probably benign	Het
Spred2	A	G	11: 19,951,104 (GRCm39)		probably benign	Het
Tbc1d4	C	G	14: 101,716,656 (GRCm39)		probably benign	Het
Tdrd7	G	A	4: 46,029,762 (GRCm39)	V1032M	probably benign	Het
Tlr11	A	G	14: 50,599,793 (GRCm39)	N593S	probably benign	Het
Trpa1	T	C	1: 14,982,585 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp25	T	C	16: 76,878,335 (GRCm39)		probably benign	Het
Vmn2r97	T	A	17: 19,167,665 (GRCm39)	S640T	probably benign	Het
Zc3h6	A	G	2: 128,848,736 (GRCm39)	Y321C	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het

Other mutations in Serinc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Serinc5	APN	13	92,842,779 (GRCm39)	missense	probably damaging	0.96
IGL01954:Serinc5	APN	13	92,819,441 (GRCm39)	missense	probably damaging	1.00
IGL02248:Serinc5	APN	13	92,842,648 (GRCm39)	missense	probably damaging	1.00
IGL03259:Serinc5	APN	13	92,827,500 (GRCm39)	missense	probably damaging	1.00
R0352:Serinc5	UTSW	13	92,844,497 (GRCm39)	splice site	probably null
R0600:Serinc5	UTSW	13	92,844,565 (GRCm39)	missense	probably damaging	1.00
R0646:Serinc5	UTSW	13	92,825,245 (GRCm39)	missense	possibly damaging	0.82
R0972:Serinc5	UTSW	13	92,825,128 (GRCm39)	missense	probably benign	0.18
R1163:Serinc5	UTSW	13	92,819,285 (GRCm39)	missense	probably damaging	1.00
R1459:Serinc5	UTSW	13	92,797,695 (GRCm39)	critical splice donor site	probably null
R1703:Serinc5	UTSW	13	92,825,305 (GRCm39)	missense	probably damaging	0.99
R1866:Serinc5	UTSW	13	92,842,771 (GRCm39)	missense	probably damaging	0.99
R1887:Serinc5	UTSW	13	92,838,214 (GRCm39)	missense	possibly damaging	0.70
R3018:Serinc5	UTSW	13	92,825,189 (GRCm39)	missense	probably benign	0.01
R4863:Serinc5	UTSW	13	92,827,488 (GRCm39)	missense	probably damaging	1.00
R5694:Serinc5	UTSW	13	92,825,302 (GRCm39)	missense	probably benign	0.00
R5715:Serinc5	UTSW	13	92,842,710 (GRCm39)	missense	probably damaging	1.00
R5979:Serinc5	UTSW	13	92,797,644 (GRCm39)	missense	probably benign	0.01
R6228:Serinc5	UTSW	13	92,844,616 (GRCm39)	missense	probably damaging	1.00
R6270:Serinc5	UTSW	13	92,825,170 (GRCm39)	missense	probably damaging	0.97
R6592:Serinc5	UTSW	13	92,844,634 (GRCm39)	missense	possibly damaging	0.88
R6622:Serinc5	UTSW	13	92,825,194 (GRCm39)	missense	probably benign	0.05
R6787:Serinc5	UTSW	13	92,842,740 (GRCm39)	missense	possibly damaging	0.60
R7730:Serinc5	UTSW	13	92,821,698 (GRCm39)	missense	probably damaging	1.00
R7773:Serinc5	UTSW	13	92,797,592 (GRCm39)	missense	probably damaging	1.00
R7961:Serinc5	UTSW	13	92,797,699 (GRCm39)	splice site	probably null
R8009:Serinc5	UTSW	13	92,797,699 (GRCm39)	splice site	probably null
R8819:Serinc5	UTSW	13	92,844,544 (GRCm39)	missense	probably benign	0.02
R8820:Serinc5	UTSW	13	92,844,544 (GRCm39)	missense	probably benign	0.02
R9116:Serinc5	UTSW	13	92,797,514 (GRCm39)	splice site	probably benign
R9460:Serinc5	UTSW	13	92,844,619 (GRCm39)	missense	probably benign	0.03
R9460:Serinc5	UTSW	13	92,844,607 (GRCm39)	missense	possibly damaging	0.94
X0018:Serinc5	UTSW	13	92,797,583 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTGCCCACCCGTCAAATTCCAGTG -3'
(R):5'- TTGGCCTGAAAGCAGTGGACAAGC -3'

Sequencing Primer
(F):5'- CAAATTCCAGTGGTTTTAGAGGCTC -3'
(R):5'- tgaggagatgtagatggagtgg -3'

Posted On

2013-11-08