Mutagenetix > Incidental Mutation

Incidental Mutation 'R7264:Serinc2'

564800

Institutional Source

Beutler Lab

Gene Symbol

Serinc2

Ensembl Gene

ENSMUSG00000023232

Gene Name

serine incorporator 2

Synonyms

Tde2l, 2310004K20Rik, FKSG84, TDE2

MMRRC Submission

045354-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7264 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130147289-130172993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130152052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 271 (V271I)

Ref Sequence

ENSEMBL: ENSMUSP00000112535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105996] [ENSMUST00000120126] [ENSMUST00000122374] [ENSMUST00000146478]

AlphaFold

Q8K0E7

Predicted Effect

probably benign
Transcript: ENSMUST00000105996
AA Change: V326I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101618
Gene: ENSMUSG00000023232
AA Change: V326I

Domain	Start	End	E-Value	Type
Pfam:Serinc	15	449	4.1e-162	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120126
AA Change: V335I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113044
Gene: ENSMUSG00000023232
AA Change: V335I

Domain	Start	End	E-Value	Type
Pfam:Serinc	25	457	1.4e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122374
AA Change: V271I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112535
Gene: ENSMUSG00000023232
AA Change: V271I

Domain	Start	End	E-Value	Type
Pfam:Serinc	1	394	2.9e-148	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146478

SMART Domains

Protein: ENSMUSP00000115198
Gene: ENSMUSG00000023232

Domain	Start	End	E-Value	Type
Pfam:Serinc	1	148	1.9e-56	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora3	C	A	3: 105,812,141 (GRCm39)	T9K	probably benign	Het
Ankib1	T	A	5: 3,805,739 (GRCm39)	N176I	probably damaging	Het
Ankle2	G	A	5: 110,385,689 (GRCm39)	G346D	probably damaging	Het
Anks1b	T	A	10: 90,348,732 (GRCm39)	M800K	probably benign	Het
Arhgef16	C	T	4: 154,365,387 (GRCm39)	G576D	probably damaging	Het
C2cd2	C	A	16: 97,677,419 (GRCm39)		probably null	Het
Cacna1c	T	C	6: 118,579,156 (GRCm39)	N1847S		Het
Camta1	A	G	4: 151,537,856 (GRCm39)	I108T	probably damaging	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Cep192	A	G	18: 67,953,426 (GRCm39)	Y481C	probably damaging	Het
Cep250	A	G	2: 155,821,071 (GRCm39)	E887G	probably damaging	Het
Clcn1	C	A	6: 42,275,772 (GRCm39)	A298D	probably damaging	Het
Col11a1	A	G	3: 113,979,248 (GRCm39)	N1305S	unknown	Het
Depdc5	T	C	5: 33,125,089 (GRCm39)	V1155A	probably benign	Het
Dnah1	A	T	14: 30,991,851 (GRCm39)	D3050E	probably benign	Het
Dnah7a	T	C	1: 53,557,973 (GRCm39)	D2147G	probably benign	Het
Fbxl4	T	C	4: 22,386,145 (GRCm39)	Y251H	possibly damaging	Het
Gm19410	A	G	8: 36,252,920 (GRCm39)	M622V	probably benign	Het
Gm3402	T	A	5: 146,451,472 (GRCm39)	M110K	probably damaging	Het
Gm8257	T	A	14: 44,893,817 (GRCm39)	E82D	probably damaging	Het
Gne	T	A	4: 44,042,175 (GRCm39)	I498F	probably damaging	Het
Grep1	A	G	17: 23,931,308 (GRCm39)	S200P	not run	Het
Gstcd	C	T	3: 132,790,540 (GRCm39)	V76I	probably benign	Het
Hgs	G	T	11: 120,365,139 (GRCm39)	V176L	probably benign	Het
Hrob	T	A	11: 102,146,422 (GRCm39)	C233S	probably benign	Het
Igbp1b	T	C	6: 138,635,108 (GRCm39)	N112S	possibly damaging	Het
Itga11	A	T	9: 62,653,190 (GRCm39)	T355S	probably benign	Het
Lama1	A	T	17: 68,050,292 (GRCm39)	H301L		Het
Lhx9	T	C	1: 138,760,489 (GRCm39)	D296G	probably damaging	Het
Lrp1	C	T	10: 127,427,962 (GRCm39)	G537D	probably damaging	Het
Mroh2b	A	G	15: 4,950,844 (GRCm39)	I581V	possibly damaging	Het
Mrps36	A	G	13: 100,875,707 (GRCm39)	S36P	probably benign	Het
Or52z13	T	A	7: 103,246,955 (GRCm39)	I144N	probably damaging	Het
Plcb4	A	T	2: 135,807,000 (GRCm39)	N547I	probably benign	Het
Plch2	T	A	4: 155,083,424 (GRCm39)	M505L	probably damaging	Het
Prg4	T	A	1: 150,329,818 (GRCm39)	N154Y	not run	Het
Rev1	A	T	1: 38,124,682 (GRCm39)	V420D	probably damaging	Het
Rin3	A	G	12: 102,356,374 (GRCm39)	I972V	probably benign	Het
Rtel1	T	C	2: 180,993,654 (GRCm39)	L775P	not run	Het
Scarf2	G	T	16: 17,621,154 (GRCm39)	C274F	possibly damaging	Het
Slpi	C	A	2: 164,198,322 (GRCm39)		probably benign	Het
Spopfm1	C	T	3: 94,173,045 (GRCm39)	H14Y	possibly damaging	Het
Stxbp6	T	C	12: 44,948,782 (GRCm39)	D109G	probably damaging	Het
Tmem74	G	A	15: 43,730,864 (GRCm39)	L60F	probably benign	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trrap	T	C	5: 144,751,333 (GRCm39)	S1610P	probably benign	Het
Ttc33	C	T	15: 5,246,718 (GRCm39)	Q175*	probably null	Het
Usp34	A	G	11: 23,283,566 (GRCm39)	T106A	probably benign	Het
Vmn1r204	A	G	13: 22,741,167 (GRCm39)	D266G	probably benign	Het
Wdfy3	C	A	5: 102,003,389 (GRCm39)	A2905S	probably benign	Het
Wfs1	A	G	5: 37,125,190 (GRCm39)	L567P	probably damaging	Het
Zfp42	T	C	8: 43,749,312 (GRCm39)	E63G	probably damaging	Het
Zfp957	A	G	14: 79,451,080 (GRCm39)	F240L	probably damaging	Het
Zgrf1	A	T	3: 127,357,218 (GRCm39)	M815L	probably benign	Het

Other mutations in Serinc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Serinc2	APN	4	130,158,201 (GRCm39)	missense	possibly damaging	0.88
IGL02031:Serinc2	APN	4	130,158,237 (GRCm39)	nonsense	probably null
IGL02551:Serinc2	APN	4	130,154,567 (GRCm39)	missense	probably benign	0.01
R1455:Serinc2	UTSW	4	130,158,133 (GRCm39)	missense	probably damaging	0.96
R1520:Serinc2	UTSW	4	130,154,543 (GRCm39)	missense	probably benign	0.00
R2059:Serinc2	UTSW	4	130,154,578 (GRCm39)	missense	probably damaging	1.00
R2869:Serinc2	UTSW	4	130,159,005 (GRCm39)	missense	probably damaging	1.00
R2869:Serinc2	UTSW	4	130,159,005 (GRCm39)	missense	probably damaging	1.00
R3160:Serinc2	UTSW	4	130,154,528 (GRCm39)	missense	probably benign
R3162:Serinc2	UTSW	4	130,154,528 (GRCm39)	missense	probably benign
R4497:Serinc2	UTSW	4	130,147,847 (GRCm39)	missense	possibly damaging	0.67
R4735:Serinc2	UTSW	4	130,157,438 (GRCm39)	missense	probably benign	0.13
R4987:Serinc2	UTSW	4	130,156,820 (GRCm39)	splice site	probably null
R5569:Serinc2	UTSW	4	130,172,272 (GRCm39)	missense	probably benign	0.17
R5681:Serinc2	UTSW	4	130,158,869 (GRCm39)	missense	probably damaging	1.00
R5946:Serinc2	UTSW	4	130,149,314 (GRCm39)	missense	possibly damaging	0.91
R6556:Serinc2	UTSW	4	130,152,064 (GRCm39)	missense	probably damaging	1.00
R6898:Serinc2	UTSW	4	130,149,235 (GRCm39)	missense	probably benign	0.13
R7526:Serinc2	UTSW	4	130,152,583 (GRCm39)	missense	probably benign	0.03
R7835:Serinc2	UTSW	4	130,169,280 (GRCm39)	missense	unknown
R8744:Serinc2	UTSW	4	130,158,988 (GRCm39)	start gained	probably benign
R8819:Serinc2	UTSW	4	130,149,172 (GRCm39)	missense	probably damaging	1.00
R8820:Serinc2	UTSW	4	130,149,172 (GRCm39)	missense	probably damaging	1.00
R9335:Serinc2	UTSW	4	130,158,220 (GRCm39)	missense	probably benign	0.01
R9419:Serinc2	UTSW	4	130,149,315 (GRCm39)	missense	probably damaging	0.99
R9542:Serinc2	UTSW	4	130,152,516 (GRCm39)	nonsense	probably null
R9688:Serinc2	UTSW	4	130,158,133 (GRCm39)	missense	probably damaging	0.96
Z1176:Serinc2	UTSW	4	130,147,788 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCGTCTGGTCCATAGCATTG -3'
(R):5'- TCAAAGTTCCCTGACTCGTAG -3'

Sequencing Primer
(F):5'- TGAAGATCTGAGTTCAATCCCCGG -3'
(R):5'- TGACTCGTAGATCCAGTCAGC -3'

Posted On

2019-06-26