Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Serinc1'

34576

Institutional Source

Beutler Lab

Gene Symbol

Serinc1

Ensembl Gene

ENSMUSG00000019877

Gene Name

serine incorporator 1

Synonyms

Tde2, TMS-2, Tde1l, 1500011D18Rik

MMRRC Submission

038485-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.597) question?

Stock #

R0254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57515774-57532530 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57523208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 200 (S200P)

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: S200P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020027
Gene: ENSMUSG00000019877
AA Change: S200P

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: S163P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126561
Gene: ENSMUSG00000019877
AA Change: S163P

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

0.2853

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,404	M252L	probably benign	Het
Abca6	A	G	11: 110,236,789	V314A	probably benign	Het
Abcb1b	A	T	5: 8,827,409	E656D	probably benign	Het
Abhd4	T	C	14: 54,263,234	I160T	probably benign	Het
Aco2	T	C	15: 81,889,356	V32A	probably damaging	Het
Actl6b	A	G	5: 137,554,144		probably benign	Het
Akap13	T	C	7: 75,736,604		probably benign	Het
Alpk3	A	T	7: 81,076,974	T136S	probably benign	Het
Ap1g1	G	T	8: 109,803,117	M56I	probably benign	Het
Arid2	C	T	15: 96,370,571	T855I	probably damaging	Het
Asprv1	T	C	6: 86,629,095	F308L	probably damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,812,110	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,981,512		probably benign	Het
Blk	C	A	14: 63,380,804	A218S	probably benign	Het
C4b	T	A	17: 34,734,776	T953S	probably benign	Het
Cdadc1	T	C	14: 59,575,907		probably benign	Het
Cdca2	C	A	14: 67,677,178	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,778,308	V83L	probably damaging	Het
Cep290	A	T	10: 100,514,574	I677F	probably benign	Het
Clip1	A	T	5: 123,617,332		probably benign	Het
Col11a2	G	T	17: 34,064,803		probably benign	Het
Coro1c	A	T	5: 113,845,252	V405D	probably benign	Het
Crebrf	A	G	17: 26,739,594	T13A	probably benign	Het
Cspg4	A	G	9: 56,897,410	E1835G	probably damaging	Het
Cubn	T	C	2: 13,424,694	N1332S	probably benign	Het
Cubn	T	C	2: 13,440,514	T1014A	possibly damaging	Het
Cubn	A	T	2: 13,476,035		probably null	Het
Efnb1	T	C	X: 99,137,028		probably benign	Het
Elf2	G	T	3: 51,308,190	P33Q	probably damaging	Het
Fap	C	T	2: 62,503,402	G633D	probably damaging	Het
Gm10288	T	C	3: 146,838,920		noncoding transcript	Het
Gm14139	G	A	2: 150,191,864	R35K	possibly damaging	Het
Gm7714	A	T	5: 88,282,371	H42L	possibly damaging	Het
Got2	T	C	8: 95,869,538	N318S	probably benign	Het
Guk1	A	T	11: 59,186,028	F76L	probably damaging	Het
H2-K1	A	T	17: 33,996,665		probably benign	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,298,239	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,652,268		probably null	Het
Hsd11b2	T	A	8: 105,523,067	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,658,203	M81K	probably damaging	Het
Kif11	A	G	19: 37,411,509	T815A	probably benign	Het
Kit	G	A	5: 75,620,921	V337I	probably benign	Het
Klf11	T	C	12: 24,653,583	S6P	probably damaging	Het
Klk13	T	C	7: 43,723,821	V193A	probably benign	Het
Krt73	T	A	15: 101,799,889		probably benign	Het
L1td1	T	A	4: 98,737,182	L538*	probably null	Het
Macf1	A	G	4: 123,432,779	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,884,016	I900T	probably damaging	Het
Med16	A	T	10: 79,900,200	N371K	possibly damaging	Het
Mepce	A	C	5: 137,785,436	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,347,866	P1249R	probably benign	Het
Mx2	A	T	16: 97,556,095	I463L	probably benign	Het
Naaa	A	T	5: 92,265,135	N73K	probably damaging	Het
Nags	T	A	11: 102,147,945	L404Q	probably damaging	Het
Neb	A	G	2: 52,243,390	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,472,985	E120G	probably damaging	Het
Olfr1276	A	C	2: 111,257,121	N2T	probably benign	Het
Olfr561	C	A	7: 102,774,869	S115*	probably null	Het
Olfr615	T	A	7: 103,560,622	Y48*	probably null	Het
Olfr643	T	C	7: 104,059,521	H27R	probably benign	Het
Olfr736	T	C	14: 50,393,079	S108P	probably damaging	Het
Pcnt	A	G	10: 76,392,580	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,167,935	V243I	probably damaging	Het
Polr2a	T	C	11: 69,743,671	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,324,224		probably benign	Het
Prmt8	C	A	6: 127,711,808	V200L	probably damaging	Het
Prpf8	T	A	11: 75,506,362	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,728,150	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,563,148	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,262,847	T1330I	probably damaging	Het
Reep3	G	T	10: 67,021,796	T172N	probably benign	Het
Rfwd3	A	G	8: 111,294,023	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,552	I121V	probably damaging	Het
Robo1	T	A	16: 72,664,170	F11I	probably benign	Het
Rsrc2	A	G	5: 123,740,847		probably benign	Het
Rubcn	A	G	16: 32,847,946	V117A	probably benign	Het
Scamp1	T	G	13: 94,210,580	N192T	probably benign	Het
Scn8a	T	A	15: 101,018,364	I1218N	probably damaging	Het
Serpinb9f	T	A	13: 33,334,591	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,997,245		probably null	Het
Slc5a4b	T	C	10: 76,070,628	M386V	possibly damaging	Het
Smarca5	A	G	8: 80,704,700	F963L	probably benign	Het
Smchd1	A	T	17: 71,411,891	F828I	probably benign	Het
Stab2	G	T	10: 86,897,960	Q1333K	probably benign	Het
Svop	T	C	5: 114,038,539	S349G	probably benign	Het
Tdrd1	G	A	19: 56,842,566	S271N	probably benign	Het
Tec	T	C	5: 72,763,556		probably benign	Het
Tec	G	A	5: 72,783,738	P159S	probably benign	Het
Tfip11	G	A	5: 112,335,655	M645I	probably benign	Het
Thap12	A	T	7: 98,715,281	T219S	probably benign	Het
Tmem87a	C	T	2: 120,375,507	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,343,745	Y227H	probably damaging	Het
Urah	G	A	7: 140,837,689	V114I	probably benign	Het
Wnt5a	G	A	14: 28,522,854	E353K	probably damaging	Het
Zfp101	A	T	17: 33,380,978	H601Q	possibly damaging	Het

Other mutations in Serinc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02267:Serinc1	APN	10	57523108	missense	probably damaging	1.00
IGL02600:Serinc1	APN	10	57523031	missense	probably benign	0.23
IGL02666:Serinc1	APN	10	57523993	splice site	probably null
IGL02829:Serinc1	APN	10	57523965	nonsense	probably null
IGL03109:Serinc1	APN	10	57523069	missense	probably benign	0.22
Olive	UTSW	10	57517210	missense	probably damaging	1.00
ANU74:Serinc1	UTSW	10	57519842	missense	probably benign	0.00
R0453:Serinc1	UTSW	10	57517210	missense	probably damaging	1.00
R0845:Serinc1	UTSW	10	57525383	missense	probably benign	0.39
R1912:Serinc1	UTSW	10	57525451	missense	probably benign	0.05
R1913:Serinc1	UTSW	10	57519465	missense	probably benign	0.01
R4820:Serinc1	UTSW	10	57525370	missense	possibly damaging	0.89
R4947:Serinc1	UTSW	10	57523045	missense	probably damaging	0.99
R5299:Serinc1	UTSW	10	57523051	missense	probably damaging	0.99
R5562:Serinc1	UTSW	10	57524051	nonsense	probably null
R5589:Serinc1	UTSW	10	57523166	missense	probably benign	0.01
R7182:Serinc1	UTSW	10	57524361	missense	probably benign	0.00
R7723:Serinc1	UTSW	10	57527822	missense	probably benign	0.08
R8742:Serinc1	UTSW	10	57519799	missense	probably benign	0.31
R8885:Serinc1	UTSW	10	57519768	missense	probably benign	0.00
R8912:Serinc1	UTSW	10	57523979	missense	probably benign	0.10
R9126:Serinc1	UTSW	10	57519481	missense	probably benign
Z1177:Serinc1	UTSW	10	57523010	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GATTCCTGGATCTTGGGCAGAATGG -3'
(R):5'- GTAATTGGTCAGCAGCAATACGCAG -3'

Sequencing Primer
(F):5'- TCTTGGGCAGAATGGACATTAC -3'
(R):5'- AGCTCAAACAAGAACTTTGGAAC -3'

Posted On

2013-05-09