Mutagenetix > Incidental Mutation

Incidental Mutation 'R8816:Slc35c2'

672719

Institutional Source

Beutler Lab

Gene Symbol

Slc35c2

Ensembl Gene

ENSMUSG00000017664

Gene Name

solute carrier family 35, member C2

Synonyms

CGI-15, D2Wsu58e, Ovcov1

MMRRC Submission

068726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8816 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165118474-165129789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165119378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 321 (S321P)

Ref Sequence

ENSEMBL: ENSMUSP00000017808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017808] [ENSMUST00000109298] [ENSMUST00000109299] [ENSMUST00000109300] [ENSMUST00000129210] [ENSMUST00000129336] [ENSMUST00000131409] [ENSMUST00000132270] [ENSMUST00000133961] [ENSMUST00000145301] [ENSMUST00000155289] [ENSMUST00000156134]

AlphaFold

Q8VCX2

Predicted Effect

probably benign
Transcript: ENSMUST00000017808
AA Change: S321P

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000017808
Gene: ENSMUSG00000017664
AA Change: S321P

Domain	Start	End	E-Value	Type
Pfam:UAA	15	320	3.5e-10	PFAM
Pfam:TPT	165	315	6.9e-37	PFAM
low complexity region	339	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109298
AA Change: S321P

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104921
Gene: ENSMUSG00000017664
AA Change: S321P

Domain	Start	End	E-Value	Type
Pfam:UAA	15	320	3.5e-10	PFAM
Pfam:TPT	165	315	6.9e-37	PFAM
low complexity region	339	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109299
AA Change: S321P

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104922
Gene: ENSMUSG00000017664
AA Change: S321P

Domain	Start	End	E-Value	Type
Pfam:UAA	15	320	3.5e-10	PFAM
Pfam:TPT	165	315	6.9e-37	PFAM
low complexity region	339	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109300
AA Change: S321P

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104923
Gene: ENSMUSG00000017664
AA Change: S321P

Domain	Start	End	E-Value	Type
Pfam:TPT	15	314	2.7e-27	PFAM
Pfam:EamA	164	315	1.6e-8	PFAM
low complexity region	339	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129210

SMART Domains

Protein: ENSMUSP00000118605
Gene: ENSMUSG00000017664

Domain	Start	End	E-Value	Type
Pfam:UAA	15	162	1.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129336

SMART Domains

Protein: ENSMUSP00000123299
Gene: ENSMUSG00000017664

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131409

SMART Domains

Protein: ENSMUSP00000120036
Gene: ENSMUSG00000017664

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132270

SMART Domains

Protein: ENSMUSP00000125708
Gene: ENSMUSG00000017664

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133961

SMART Domains

Protein: ENSMUSP00000118227
Gene: ENSMUSG00000017664

Domain	Start	End	E-Value	Type
Pfam:UAA	15	188	9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145301

SMART Domains

Protein: ENSMUSP00000123757
Gene: ENSMUSG00000017664

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155289

SMART Domains

Protein: ENSMUSP00000119071
Gene: ENSMUSG00000017664

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	41	63	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC
Pfam:TPT	144	199	1.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156134

SMART Domains

Protein: ENSMUSP00000116288
Gene: ENSMUSG00000017664

Domain	Start	End	E-Value	Type
Pfam:UAA	15	188	9e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,127,513 (GRCm39)	H348L	probably benign	Het
Alpk1	A	T	3: 127,478,024 (GRCm39)	Y74*	probably null	Het
Ass1	T	C	2: 31,383,189 (GRCm39)		probably benign	Het
Atp8b4	C	T	2: 126,214,084 (GRCm39)		probably benign	Het
Atrn	C	A	2: 130,748,798 (GRCm39)	N106K	probably damaging	Het
Atrn	T	C	2: 130,846,494 (GRCm39)	V1256A	probably damaging	Het
Bicdl1	T	A	5: 115,862,804 (GRCm39)	Q150H	probably damaging	Het
Bltp3b	T	C	10: 89,626,597 (GRCm39)		probably benign	Het
Cdhr4	T	C	9: 107,872,791 (GRCm39)	V280A	possibly damaging	Het
Cfap54	C	T	10: 92,714,454 (GRCm39)	V2642I	unknown	Het
Chd2	T	C	7: 73,140,245 (GRCm39)	H661R	probably damaging	Het
Cntnap2	A	G	6: 46,833,076 (GRCm39)	D763G	possibly damaging	Het
Csnk1g2	T	C	10: 80,474,093 (GRCm39)	C160R	probably damaging	Het
Cyb5r4	T	C	9: 86,904,286 (GRCm39)	S19P	probably benign	Het
Cyp4a30b	G	A	4: 115,309,834 (GRCm39)	V12M	probably benign	Het
Dpp6	C	T	5: 27,930,711 (GRCm39)	P848S	probably benign	Het
Dzip1	T	C	14: 119,159,785 (GRCm39)	Y141C	probably benign	Het
Eif2b3	C	A	4: 116,928,052 (GRCm39)	Q424K	probably benign	Het
Fbxw14	G	A	9: 109,105,305 (GRCm39)	R287*	probably null	Het
Fcgbp	T	G	7: 27,784,412 (GRCm39)	S157R	probably benign	Het
Fmnl2	T	G	2: 53,004,214 (GRCm39)	V642G	unknown	Het
Gpr119	C	T	X: 47,762,276 (GRCm39)	R287Q	possibly damaging	Het
Grm7	C	T	6: 111,230,966 (GRCm39)	T463I	possibly damaging	Het
Haus4	G	A	14: 54,779,710 (GRCm39)	R305C	probably benign	Het
Htr1f	A	G	16: 64,746,537 (GRCm39)	S252P	probably benign	Het
Ino80b	T	C	6: 83,098,861 (GRCm39)	Q359R	probably damaging	Het
Itgad	C	A	7: 127,797,542 (GRCm39)	Y924*	probably null	Het
Itpr2	A	G	6: 146,142,710 (GRCm39)	Y1703H	probably damaging	Het
Kif5c	T	A	2: 49,584,799 (GRCm39)	V174E	probably damaging	Het
Kifc2	A	G	15: 76,548,371 (GRCm39)	E405G	probably damaging	Het
Klk1b3	T	C	7: 43,851,668 (GRCm39)	V242A	possibly damaging	Het
Kndc1	T	C	7: 139,517,909 (GRCm39)	F1615S	probably damaging	Het
Lmtk2	T	A	5: 144,112,793 (GRCm39)	L1171*	probably null	Het
Myh10	A	G	11: 68,693,778 (GRCm39)	E1530G	probably damaging	Het
Nav3	T	A	10: 109,699,721 (GRCm39)	S258C	possibly damaging	Het
Nudcd3	C	T	11: 6,100,587 (GRCm39)	G186S	probably damaging	Het
Or9s15	T	A	1: 92,524,768 (GRCm39)	C176S	probably damaging	Het
Otog	C	T	7: 45,950,905 (GRCm39)	S374F	possibly damaging	Het
P2ry2	T	A	7: 100,647,763 (GRCm39)	I181F	possibly damaging	Het
Pde11a	T	C	2: 76,121,577 (GRCm39)	I335V	probably benign	Het
Phyhip	A	C	14: 70,704,375 (GRCm39)	D198A	probably damaging	Het
Pik3r5	A	T	11: 68,385,060 (GRCm39)	Y655F	probably damaging	Het
Rab6a	T	C	7: 100,279,145 (GRCm39)	I95T	possibly damaging	Het
Sgsm1	T	C	5: 113,435,097 (GRCm39)	E99G	probably damaging	Het
Skint10	A	T	4: 112,603,892 (GRCm39)	F98L	probably benign	Het
Smyd1	T	A	6: 71,192,868 (GRCm39)	E447V	probably damaging	Het
Smyd4	T	C	11: 75,281,232 (GRCm39)	V235A	probably benign	Het
Sod2	A	G	17: 13,227,253 (GRCm39)	Y69C	probably benign	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tfap2b	A	G	1: 19,284,337 (GRCm39)	S82G	probably benign	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Tln2	A	G	9: 67,128,799 (GRCm39)	I1430T	probably damaging	Het
Trio	G	T	15: 27,741,357 (GRCm39)	N2680K	probably damaging	Het
Trmt10c	A	T	16: 55,854,522 (GRCm39)	V371D	probably damaging	Het
Trpm3	T	C	19: 22,965,580 (GRCm39)	S1692P	probably damaging	Het
Usb1	G	T	8: 96,071,984 (GRCm39)	C228F	probably benign	Het
Veph1	G	T	3: 66,065,646 (GRCm39)	H474N	probably benign	Het
Wls	A	G	3: 159,639,928 (GRCm39)	T520A	possibly damaging	Het
Ywhae	T	C	11: 75,623,878 (GRCm39)	Y9H	probably damaging	Het
Zranb3	C	T	1: 127,964,347 (GRCm39)	V127M	possibly damaging	Het

Other mutations in Slc35c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02232:Slc35c2	APN	2	165,124,801 (GRCm39)	missense	probably damaging	1.00
IGL02680:Slc35c2	APN	2	165,124,055 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Slc35c2	UTSW	2	165,119,452 (GRCm39)	missense	probably benign	0.27
R0239:Slc35c2	UTSW	2	165,122,757 (GRCm39)	missense	probably damaging	1.00
R0239:Slc35c2	UTSW	2	165,122,757 (GRCm39)	missense	probably damaging	1.00
R0399:Slc35c2	UTSW	2	165,122,815 (GRCm39)	nonsense	probably null
R0496:Slc35c2	UTSW	2	165,122,735 (GRCm39)	missense	probably damaging	1.00
R0627:Slc35c2	UTSW	2	165,124,056 (GRCm39)	missense	possibly damaging	0.91
R0631:Slc35c2	UTSW	2	165,122,849 (GRCm39)	missense	probably damaging	1.00
R1865:Slc35c2	UTSW	2	165,120,303 (GRCm39)	missense	probably benign	0.03
R2137:Slc35c2	UTSW	2	165,123,299 (GRCm39)	missense	probably damaging	1.00
R6237:Slc35c2	UTSW	2	165,122,617 (GRCm39)	missense	probably damaging	1.00
R6873:Slc35c2	UTSW	2	165,124,729 (GRCm39)	missense	possibly damaging	0.85
R7962:Slc35c2	UTSW	2	165,119,462 (GRCm39)	missense	probably damaging	1.00
R9154:Slc35c2	UTSW	2	165,122,797 (GRCm39)	missense	probably benign
X0060:Slc35c2	UTSW	2	165,119,461 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACGTCACAGTTACTGACCTAG -3'
(R):5'- AGTAACAACAGGTCTGCAGG -3'

Sequencing Primer
(F):5'- ACTGACCTAGTAAACTTCTCTGGGG -3'
(R):5'- CTTTGGCCTCAGTGTACACAGAG -3'

Posted On

2021-04-30