Mutagenetix > Incidental Mutation

Incidental Mutation 'R2137:Slc35c2'

235862

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

040140-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2137 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165118474-165129789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165123299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 113 (Y113H)

Ref Sequence

ENSEMBL: ENSMUSP00000116288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017808] [ENSMUST00000109298] [ENSMUST00000109299] [ENSMUST00000109300] [ENSMUST00000129210] [ENSMUST00000129336] [ENSMUST00000133961] [ENSMUST00000156134] [ENSMUST00000155289] [ENSMUST00000145301] [ENSMUST00000132270] [ENSMUST00000131409] [ENSMUST00000130393]

AlphaFold

Q8VCX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000017808
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017808
Gene: ENSMUSG00000017664
AA Change: Y113H

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 damaging
Transcript: ENSMUST00000109298
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104921
Gene: ENSMUSG00000017664
AA Change: Y113H

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 damaging
Transcript: ENSMUST00000109299
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104922
Gene: ENSMUSG00000017664
AA Change: Y113H

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 damaging
Transcript: ENSMUST00000109300
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104923
Gene: ENSMUSG00000017664
AA Change: Y113H

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

noncoding transcript
Transcript: ENSMUST00000125550

Predicted Effect

probably damaging
Transcript: ENSMUST00000129210
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118605
Gene: ENSMUSG00000017664
AA Change: Y113H

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 damaging
Transcript: ENSMUST00000133961
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118227
Gene: ENSMUSG00000017664
AA Change: Y113H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156134
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116288
Gene: ENSMUSG00000017664
AA Change: Y113H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155289
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119071
Gene: ENSMUSG00000017664
AA Change: Y113H

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: ENSMUST00000145301

SMART Domains

Protein: ENSMUSP00000123757
Gene: ENSMUSG00000017664

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154608

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

noncoding transcript
Transcript: ENSMUST00000147247

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: ENSMUST00000130393

SMART Domains

Protein: ENSMUSP00000123450
Gene: ENSMUSG00000017664

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

Meta Mutation Damage Score

0.8156

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	C	T	10: 81,482,143 (GRCm39)	T88I	probably damaging	Het
Atm	A	T	9: 53,364,675 (GRCm39)	V49D	probably damaging	Het
Bub1b	G	T	2: 118,467,199 (GRCm39)	E841*	probably null	Het
Cdh20	A	T	1: 110,027,836 (GRCm39)	N527I	probably damaging	Het
Cdh22	G	A	2: 164,958,314 (GRCm39)		probably benign	Het
Cog1	T	C	11: 113,550,127 (GRCm39)	L262P	probably damaging	Het
Col22a1	T	C	15: 71,878,797 (GRCm39)	H120R	possibly damaging	Het
Col4a2	T	C	8: 11,483,749 (GRCm39)	S890P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Evpl	T	C	11: 116,112,665 (GRCm39)	E1675G	probably damaging	Het
Faiml	G	A	9: 99,114,545 (GRCm39)	P115S	probably benign	Het
Fgg	A	T	3: 82,915,745 (GRCm39)	D62V	possibly damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Galntl6	C	T	8: 58,988,939 (GRCm39)		probably null	Het
Glyr1	T	C	16: 4,836,346 (GRCm39)	Y501C	probably benign	Het
Gm9847	G	T	12: 14,545,082 (GRCm39)		noncoding transcript	Het
Gria4	T	G	9: 4,427,026 (GRCm39)		probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Il6st	C	A	13: 112,639,392 (GRCm39)	H606N	possibly damaging	Het
Itprid1	A	G	6: 55,866,174 (GRCm39)	Q189R	probably damaging	Het
Kctd10	A	G	5: 114,505,389 (GRCm39)	F202L	probably damaging	Het
Kif17	T	A	4: 137,989,978 (GRCm39)	D55E	probably damaging	Het
Klf1	C	T	8: 85,629,775 (GRCm39)	A200V	possibly damaging	Het
Klhl32	A	T	4: 24,629,275 (GRCm39)	Y497*	probably null	Het
Kng2	G	T	16: 22,816,076 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,577,611 (GRCm39)	V245A	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mss51	T	C	14: 20,537,591 (GRCm39)	I47V	probably benign	Het
Myoz2	G	A	3: 122,827,861 (GRCm39)	T19M	probably benign	Het
Nampt	T	A	12: 32,880,309 (GRCm39)	N67K	probably benign	Het
Ncor2	A	T	5: 125,107,776 (GRCm39)	I1607K	probably damaging	Het
Nudt4	T	C	10: 95,399,600 (GRCm39)	Q7R	probably damaging	Het
Or5b119	A	G	19: 13,457,173 (GRCm39)	Y130H	probably damaging	Het
Or5b121	T	A	19: 13,507,802 (GRCm39)	I255N	probably damaging	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Pgm2	A	T	5: 64,273,709 (GRCm39)	M565L	probably benign	Het
Phactr1	T	G	13: 43,288,651 (GRCm39)	F639V	possibly damaging	Het
Plod3	C	A	5: 137,017,571 (GRCm39)	R165S	probably damaging	Het
Polr2b	T	A	5: 77,468,193 (GRCm39)	N164K	probably benign	Het
Rcbtb2	G	A	14: 73,399,491 (GRCm39)	G52S	probably damaging	Het
Rfc1	A	G	5: 65,468,382 (GRCm39)		probably null	Het
Rheb	A	G	5: 25,012,601 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Ripor2	G	A	13: 24,905,817 (GRCm39)		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scg3	A	T	9: 75,584,092 (GRCm39)	D136E	probably damaging	Het
Slc10a4	C	T	5: 73,164,923 (GRCm39)	L172F	probably damaging	Het
Slc47a1	T	A	11: 61,235,318 (GRCm39)	D505V	probably benign	Het
Snap29	C	A	16: 17,246,113 (GRCm39)	D244E	possibly damaging	Het
Taar1	T	C	10: 23,797,168 (GRCm39)	F289L	probably benign	Het
Thbs2	T	A	17: 14,893,568 (GRCm39)	N871Y	probably damaging	Het
Tmem108	T	A	9: 103,377,162 (GRCm39)	T96S	possibly damaging	Het
Tnk2	G	T	16: 32,489,620 (GRCm39)		probably null	Het
Trak1	T	A	9: 121,302,028 (GRCm39)	M928K	possibly damaging	Het
Tuba3b	A	G	6: 145,564,559 (GRCm39)	I110V	probably benign	Het
Tyk2	A	G	9: 21,022,281 (GRCm39)		probably benign	Het
Ugt1a9	T	A	1: 87,998,759 (GRCm39)	C70S	probably benign	Het
Vmn2r10	A	T	5: 109,151,410 (GRCm39)	I68K	possibly damaging	Het
Wfs1	T	C	5: 37,124,845 (GRCm39)	E682G	probably damaging	Het
Zfp213	T	C	17: 23,778,481 (GRCm39)		probably null	Het
Zfp809	T	C	9: 22,146,434 (GRCm39)	V41A	probably benign	Het
Zfp831	A	G	2: 174,547,539 (GRCm39)	K1574R	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
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
R8816:Slc35c2	UTSW	2	165,119,378 (GRCm39)	missense	probably benign	0.31
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'- GCTGCCAAACCCGTTTCTAAAC -3'
(R):5'- TGTCTCACGTCAGAGAGTGC -3'

Sequencing Primer
(F):5'- AAACCCGTTTCTAAACCTTCAGTC -3'
(R):5'- CCGAGTCAGCTTGGTGTTAAAC -3'

Posted On

2014-10-01