Mutagenetix > Incidental Mutation

Incidental Mutation 'R4947:Serinc1'

383513

Institutional Source

Beutler Lab

Gene Symbol

Serinc1

Ensembl Gene

ENSMUSG00000019877

Gene Name

serine incorporator 1

Synonyms

Tde2, TMS-2, 1500011D18Rik, Tde1l

MMRRC Submission

042544-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R4947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57391870-57408573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57399141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 254 (E254G)

Ref Sequence

ENSEMBL: ENSMUSP00000020027 (fasta)

Gene Model

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

AlphaFold

Q9QZI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020027
AA Change: E254G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020027
Gene: ENSMUSG00000019877
AA Change: E254G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166997

Predicted Effect

probably damaging
Transcript: ENSMUST00000169122
AA Change: E217G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126561
Gene: ENSMUSG00000019877
AA Change: E217G

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

0.7995

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.4%

Validation Efficiency

100% (88/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,959,343 (GRCm39)	H119L	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Adamtsl1	A	T	4: 85,683,037 (GRCm39)	Q36L	possibly damaging	Het
Bcl2a1a	G	A	9: 88,839,335 (GRCm39)	E78K	probably damaging	Het
Cdk5rap2	A	G	4: 70,146,829 (GRCm39)		probably null	Het
Copg1	C	A	6: 87,880,455 (GRCm39)		probably benign	Het
Crb2	C	T	2: 37,685,343 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,142,127 (GRCm39)	Y83C	probably damaging	Het
Ctbp2	C	A	7: 132,601,012 (GRCm39)	G584C	probably damaging	Het
Cyp11b2	T	C	15: 74,723,419 (GRCm39)	N415S	possibly damaging	Het
D630003M21Rik	T	A	2: 158,028,116 (GRCm39)	T1095S	unknown	Het
D630045J12Rik	C	T	6: 38,125,478 (GRCm39)	R1512H	probably damaging	Het
Dnah5	T	A	15: 28,272,518 (GRCm39)	V1078E	probably benign	Het
Donson	A	T	16: 91,479,439 (GRCm39)	D366E	probably damaging	Het
Evpl	T	C	11: 116,114,201 (GRCm39)	E1163G	possibly damaging	Het
Fcgbp	A	G	7: 27,789,237 (GRCm39)	K601R	probably benign	Het
Fez1	A	C	9: 36,780,171 (GRCm39)	I323L	probably damaging	Het
Flacc1	T	A	1: 58,715,698 (GRCm39)	T173S	probably benign	Het
Fmnl2	T	G	2: 52,963,722 (GRCm39)	S285A	probably benign	Het
Frem1	A	G	4: 82,884,371 (GRCm39)	S1194P	probably damaging	Het
Gm10754	A	T	10: 97,518,010 (GRCm39)		probably benign	Het
Gm14226	A	T	2: 154,866,879 (GRCm39)	T279S	probably benign	Het
Gm16332	G	A	1: 139,793,730 (GRCm39)		noncoding transcript	Het
Gm21718	T	A	14: 51,553,416 (GRCm39)		noncoding transcript	Het
Gm9871	A	G	6: 101,773,734 (GRCm39)		noncoding transcript	Het
Grm1	A	G	10: 10,658,377 (GRCm39)	F371S	probably damaging	Het
Gtdc1	T	C	2: 44,481,968 (GRCm39)	I128V	probably null	Het
H2-Q3	T	A	17: 35,578,708 (GRCm39)		noncoding transcript	Het
Ibtk	T	C	9: 85,592,465 (GRCm39)	T998A	probably benign	Het
Ifi204	A	G	1: 173,583,316 (GRCm39)	S301P	probably damaging	Het
Kcnn1	C	A	8: 71,297,073 (GRCm39)	A545S	probably benign	Het
Keap1	T	G	9: 21,148,849 (GRCm39)	S53R	probably benign	Het
Lat	A	G	7: 125,967,110 (GRCm39)	V138A	probably benign	Het
Lrpprc	A	T	17: 85,078,966 (GRCm39)	N249K	probably benign	Het
Lrrc40	A	G	3: 157,769,472 (GRCm39)	I557V	probably benign	Het
Maml3	A	G	3: 51,763,960 (GRCm39)	F335L	probably benign	Het
Mcmbp	A	T	7: 128,314,420 (GRCm39)	D265E	probably damaging	Het
Me3	A	G	7: 89,282,222 (GRCm39)	H35R	probably benign	Het
Mif4gd	C	A	11: 115,500,463 (GRCm39)	V32L	probably benign	Het
Mlana	T	C	19: 29,677,551 (GRCm39)	S18P	probably damaging	Het
Mpnd	T	A	17: 56,317,268 (GRCm39)		probably benign	Het
Ms4a4b	T	C	19: 11,432,101 (GRCm39)	V74A	probably benign	Het
Mta2	T	C	19: 8,923,655 (GRCm39)	F133L	possibly damaging	Het
Myo5a	A	G	9: 75,030,330 (GRCm39)	M150V	probably damaging	Het
Nbr1	T	C	11: 101,465,903 (GRCm39)	V487A	probably benign	Het
Nos3	G	A	5: 24,582,853 (GRCm39)	C660Y	probably damaging	Het
Ocln	T	C	13: 100,676,223 (GRCm39)	D90G	probably damaging	Het
Or12d17	T	C	17: 37,777,634 (GRCm39)	V179A	probably damaging	Het
Or1e1c	C	T	11: 73,266,243 (GRCm39)	R223*	probably null	Het
Or52n5	A	G	7: 104,587,949 (GRCm39)	D72G	possibly damaging	Het
Or5h18	A	G	16: 58,847,808 (GRCm39)	L154P	probably damaging	Het
Pcdh7	A	G	5: 57,879,258 (GRCm39)	K938E	probably damaging	Het
Pcgf3	T	C	5: 108,635,827 (GRCm39)	F166L	probably benign	Het
Pid1	A	T	1: 84,015,981 (GRCm39)	V128E	possibly damaging	Het
Polr3a	A	C	14: 24,532,532 (GRCm39)	D187E	probably benign	Het
Prokr2	T	C	2: 132,215,573 (GRCm39)	D135G	probably damaging	Het
Rnf141	T	C	7: 110,424,527 (GRCm39)	T14A	possibly damaging	Het
Silc1	A	T	12: 27,210,227 (GRCm39)		noncoding transcript	Het
Skint11	T	C	4: 114,048,707 (GRCm39)	F11L	possibly damaging	Het
Slc22a28	T	C	19: 8,108,816 (GRCm39)	T109A	probably benign	Het
Sntg1	C	A	1: 8,853,022 (GRCm39)	V43L	probably damaging	Het
Sp140l2	G	A	1: 85,090,203 (GRCm39)	A124V	probably damaging	Het
Strn	T	C	17: 78,969,208 (GRCm39)	D398G	probably damaging	Het
Tacc2	A	T	7: 130,227,629 (GRCm39)	E1438V	probably damaging	Het
Tas2r139	A	G	6: 42,118,500 (GRCm39)	T211A	possibly damaging	Het
Tbkbp1	T	C	11: 97,029,770 (GRCm39)		probably benign	Het
Thbs3	T	C	3: 89,133,738 (GRCm39)	Y897H	probably damaging	Het
Timm50	G	T	7: 28,009,469 (GRCm39)		probably benign	Het
Tmem132a	T	C	19: 10,844,298 (GRCm39)	Q100R	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Unc93b1	C	A	19: 3,985,871 (GRCm39)	T90K	probably benign	Het
Upk3bl	T	C	5: 136,086,099 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,821,860 (GRCm39)	H179Q	probably benign	Het
Vmn2r57	A	T	7: 41,049,919 (GRCm39)	F610Y	probably damaging	Het
Vmn2r80	T	G	10: 79,030,532 (GRCm39)	L786R	probably damaging	Het
Zc3h14	A	G	12: 98,726,083 (GRCm39)	T323A	probably benign	Het
Zfp532	T	C	18: 65,758,137 (GRCm39)	I690T	possibly damaging	Het
Zfp729b	T	C	13: 67,744,791 (GRCm39)	N47S	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
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
R8742:Serinc1	UTSW	10	57,395,895 (GRCm39)	missense	probably benign	0.31
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'- CCTCTCTACTAGTGATGAAGTAACTTC -3'
(R):5'- AACCAGGTACCATGCTGAATC -3'

Sequencing Primer
(F):5'- TCATCTCTTAAAACGACAAGTTCTG -3'
(R):5'- AATTCCATTGTATTTCTTTCACAGCC -3'

Posted On

2016-04-27