Mutagenetix > Incidental Mutation

Incidental Mutation 'R8742:Serinc1'

663299

Institutional Source

Beutler Lab

Gene Symbol

Serinc1

Ensembl Gene

ENSMUSG00000019877

Gene Name

serine incorporator 1

Synonyms

Tde2, TMS-2, 1500011D18Rik, Tde1l

MMRRC Submission

068587-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R8742 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57391870-57408573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57395895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 298 (N298K)

Ref Sequence

ENSEMBL: ENSMUSP00000020027 (fasta)

Gene Model

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

AlphaFold

Q9QZI8

Predicted Effect

probably benign
Transcript: ENSMUST00000020027
AA Change: N298K

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020027
Gene: ENSMUSG00000019877
AA Change: N298K

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

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.0842

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

100% (55/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,265,835 (GRCm39)	I893V	probably benign	Het
Adhfe1	A	G	1: 9,630,401 (GRCm39)	I317V	probably benign	Het
Adnp2	A	G	18: 80,171,556 (GRCm39)	V951A	probably damaging	Het
Ankrd35	T	A	3: 96,586,502 (GRCm39)	H59Q	probably damaging	Het
Atg16l1	C	T	1: 87,694,620 (GRCm39)	T161I	probably damaging	Het
Axl	A	G	7: 25,463,861 (GRCm39)	V591A	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cdcp3	A	G	7: 130,783,741 (GRCm39)	I45V	unknown	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfh	A	T	1: 140,029,390 (GRCm39)	F986L	probably damaging	Het
Cfh	G	T	1: 140,064,469 (GRCm39)	T393K	probably damaging	Het
Clic1	A	G	17: 35,274,356 (GRCm39)	N179S	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dst	T	A	1: 34,251,425 (GRCm39)	D2159E	probably benign	Het
Epn3	T	G	11: 94,386,921 (GRCm39)	T150P	probably damaging	Het
Fgr	T	C	4: 132,724,828 (GRCm39)	Y310H	probably damaging	Het
Filip1l	A	G	16: 57,391,593 (GRCm39)	Y727C	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gdf10	A	T	14: 33,654,426 (GRCm39)	H311L	probably benign	Het
Gphn	C	T	12: 78,659,766 (GRCm39)	R423C	probably damaging	Het
Gpr132	T	C	12: 112,819,517 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,744,143 (GRCm39)	T406K	probably benign	Het
Hpf1	T	C	8: 61,346,748 (GRCm39)	V21A	probably benign	Het
Ifitm6	A	G	7: 140,596,008 (GRCm39)	I75T	probably benign	Het
Itgax	A	T	7: 127,743,795 (GRCm39)	H852L	probably benign	Het
Klhl3	T	C	13: 58,159,021 (GRCm39)	Y546C	probably damaging	Het
Lbr	A	G	1: 181,644,571 (GRCm39)	L578P	possibly damaging	Het
Ltbp1	A	G	17: 75,617,217 (GRCm39)	Y734C	probably damaging	Het
Mapre2	C	A	18: 24,016,688 (GRCm39)	H281N	probably benign	Het
Mcm4	T	C	16: 15,443,430 (GRCm39)	D831G	possibly damaging	Het
Mlf1	G	A	3: 67,305,119 (GRCm39)	A207T	probably damaging	Het
Mslnl	A	T	17: 25,964,047 (GRCm39)	I459F	probably damaging	Het
Mtnr1a	A	G	8: 45,540,720 (GRCm39)	D227G	probably benign	Het
Ncapg	T	A	5: 45,851,216 (GRCm39)	L803Q	probably damaging	Het
Nr3c2	T	G	8: 77,635,210 (GRCm39)	S104A	probably damaging	Het
Or4k52	A	G	2: 111,610,910 (GRCm39)	I82V	probably benign	Het
Pard3	C	T	8: 128,050,592 (GRCm39)	A218V	possibly damaging	Het
Poteg	A	T	8: 27,984,957 (GRCm39)	N439Y	possibly damaging	Het
Pramel34	T	A	5: 93,785,935 (GRCm39)	D115V	probably damaging	Het
Ret	A	T	6: 118,155,484 (GRCm39)	L404Q	probably damaging	Het
Ripk4	A	T	16: 97,556,272 (GRCm39)	V157D	probably damaging	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,121 (GRCm39)		probably benign	Het
Sh3pxd2a	G	A	19: 47,275,073 (GRCm39)	S230L	probably benign	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Skint11	T	C	4: 114,051,922 (GRCm39)	I90T	probably damaging	Het
Slc36a4	A	G	9: 15,632,039 (GRCm39)	T72A	probably damaging	Het
Slc38a9	T	A	13: 112,865,818 (GRCm39)	I505K	probably damaging	Het
Sprr3	C	T	3: 92,364,307 (GRCm39)	R179H	possibly damaging	Het
Syne1	A	T	10: 5,058,661 (GRCm39)	I7284N	probably benign	Het
Timeless	A	T	10: 128,083,107 (GRCm39)	T648S	probably benign	Het
Trim44	A	G	2: 102,230,521 (GRCm39)	M170T	possibly damaging	Het
Trpm7	A	G	2: 126,667,469 (GRCm39)	F815L	probably damaging	Het
Uimc1	A	G	13: 55,240,971 (GRCm39)	L39S	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,263 (GRCm39)	T723A	probably benign	Het
Vps11	A	G	9: 44,267,070 (GRCm39)		probably benign	Het
Zp3r	A	T	1: 130,511,230 (GRCm39)	C383S	probably damaging	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
IGL02666:Serinc1	APN	10	57,400,089 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGCATGAAGAAATTCGTAG -3'
(R):5'- CCTTGGCTCTGAGATAAGATTGG -3'

Sequencing Primer
(F):5'- CTGCATGAAGAAATTCGTAGAGAAAG -3'
(R):5'- GCTCTGAGATAAGATTGGAAAGAAAG -3'

Posted On

2021-03-08