Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02680:Slc35c2'

303345

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35c2

Ensembl Gene

ENSMUSG00000017664

Gene Name

solute carrier family 35, member C2

Synonyms

CGI-15, D2Wsu58e, Ovcov1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02680

Quality Score

Status

Chromosome

Chromosomal Location

165118474-165129789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 165124055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 94 (T94K)

Ref Sequence

ENSEMBL: ENSMUSP00000120036 (fasta)

Gene Model

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

AlphaFold

Q8VCX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017808
AA Change: T94K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017808
Gene: ENSMUSG00000017664
AA Change: T94K

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

possibly damaging
Transcript: ENSMUST00000109298
AA Change: T94K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104921
Gene: ENSMUSG00000017664
AA Change: T94K

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

possibly damaging
Transcript: ENSMUST00000109299
AA Change: T94K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104922
Gene: ENSMUSG00000017664
AA Change: T94K

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

possibly damaging
Transcript: ENSMUST00000109300
AA Change: T94K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104923
Gene: ENSMUSG00000017664
AA Change: T94K

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

possibly damaging
Transcript: ENSMUST00000129210
AA Change: T94K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118605
Gene: ENSMUSG00000017664
AA Change: T94K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129336
AA Change: T94K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123299
Gene: ENSMUSG00000017664
AA Change: T94K

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

Predicted Effect

unknown
Transcript: ENSMUST00000132270
AA Change: N70K

SMART Domains

Protein: ENSMUSP00000125708
Gene: ENSMUSG00000017664
AA Change: N70K

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

Predicted Effect

unknown
Transcript: ENSMUST00000145301
AA Change: N70K

SMART Domains

Protein: ENSMUSP00000123757
Gene: ENSMUSG00000017664
AA Change: N70K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155289
AA Change: T94K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119071
Gene: ENSMUSG00000017664
AA Change: T94K

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 damaging
Transcript: ENSMUST00000131409
AA Change: T94K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120036
Gene: ENSMUSG00000017664
AA Change: T94K

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: T94K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118227
Gene: ENSMUSG00000017664
AA Change: T94K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156134
AA Change: T94K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116288
Gene: ENSMUSG00000017664
AA Change: T94K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147247

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

Coding Region Coverage

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,949 (GRCm39)		probably benign	Het
Aldh1a3	C	A	7: 66,055,895 (GRCm39)	V299F	probably damaging	Het
Ankar	A	G	1: 72,709,275 (GRCm39)	Y747H	probably damaging	Het
Armc9	T	C	1: 86,180,000 (GRCm39)	I107T	probably damaging	Het
Atmin	A	T	8: 117,684,236 (GRCm39)	D632V	probably damaging	Het
Atp5pd	C	A	11: 115,306,840 (GRCm39)		probably null	Het
Cadps2	T	C	6: 23,838,895 (GRCm39)	E81G	probably damaging	Het
Cep162	A	G	9: 87,128,797 (GRCm39)	V67A	possibly damaging	Het
Cfap100	C	T	6: 90,389,217 (GRCm39)	V335I	probably benign	Het
Dmtf1	A	T	5: 9,180,381 (GRCm39)	D181E	probably benign	Het
Efcab14	T	A	4: 115,597,615 (GRCm39)	I70N	probably damaging	Het
Frzb	T	C	2: 80,254,970 (GRCm39)	T189A	possibly damaging	Het
Fstl3	G	A	10: 79,614,506 (GRCm39)	W69*	probably null	Het
Gjb3	C	T	4: 127,219,815 (GRCm39)	C239Y	probably damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Inpp5d	A	G	1: 87,629,205 (GRCm39)	T397A	possibly damaging	Het
Myh11	G	T	16: 14,027,384 (GRCm39)	H1283Q	probably benign	Het
Naip6	A	G	13: 100,420,256 (GRCm39)	V1338A	probably benign	Het
Obscn	A	G	11: 58,890,846 (GRCm39)	S7229P	unknown	Het
Or1l4b	A	T	2: 37,036,427 (GRCm39)	I68F	probably damaging	Het
Pfkp	G	A	13: 6,650,708 (GRCm39)		probably benign	Het
Pop1	T	A	15: 34,502,619 (GRCm39)	I102K	probably damaging	Het
Ppp1r21	A	G	17: 88,891,290 (GRCm39)	M732V	probably benign	Het
Rsc1a1	A	G	4: 141,412,408 (GRCm39)	V168A	probably benign	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Scn10a	T	A	9: 119,495,125 (GRCm39)	Y372F	probably damaging	Het
Slc41a2	A	G	10: 83,119,728 (GRCm39)	Y345H	probably benign	Het
Slc5a11	T	C	7: 122,864,854 (GRCm39)	S387P	probably damaging	Het
Smg7	T	A	1: 152,721,145 (GRCm39)	N727I	probably benign	Het
Steap2	A	T	5: 5,723,474 (GRCm39)	F469I	probably benign	Het
Tex2	T	A	11: 106,459,058 (GRCm39)		probably benign	Het
Tmem79	A	G	3: 88,240,270 (GRCm39)	L226P	probably damaging	Het
Tnfrsf14	G	T	4: 155,008,927 (GRCm39)	C165*	probably null	Het
Trim21	A	G	7: 102,208,870 (GRCm39)	V283A	probably benign	Het
Vmn2r16	A	T	5: 109,487,948 (GRCm39)	M274L	probably benign	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
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
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

Posted On

2015-04-16