Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Slc35c2'

37178

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

038477-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0239 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165118474-165129789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 165122757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 176 (G176S)

Ref Sequence

ENSEMBL: ENSMUSP00000116288 (fasta)

Gene Model

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

AlphaFold

Q8VCX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017808
AA Change: G176S

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000017808
Gene: ENSMUSG00000017664
AA Change: G176S

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: G176S

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104921
Gene: ENSMUSG00000017664
AA Change: G176S

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: G176S

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104922
Gene: ENSMUSG00000017664
AA Change: G176S

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: G176S

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104923
Gene: ENSMUSG00000017664
AA Change: G176S

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 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

silent
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

possibly damaging
Transcript: ENSMUST00000155289
AA Change: G155S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119071
Gene: ENSMUSG00000017664
AA Change: G155S

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: ENSMUST00000133961
AA Change: G176S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118227
Gene: ENSMUSG00000017664
AA Change: G176S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156134
AA Change: G176S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116288
Gene: ENSMUSG00000017664
AA Change: G176S

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

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: 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

Meta Mutation Damage Score

0.4509

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

Validation Efficiency

100% (3/3)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 137,771,595 (GRCm39)		probably benign	Het
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,974,529 (GRCm39)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,344,676 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Camta1	A	G	4: 151,228,187 (GRCm39)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm39)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,493 (GRCm39)	W771R	probably damaging	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
D3Ertd751e	A	G	3: 41,708,313 (GRCm39)	Y150C	probably damaging	Het
Depdc5	T	C	5: 33,100,584 (GRCm39)	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Elp1	C	A	4: 56,784,596 (GRCm39)	V466L	probably benign	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gemin6	C	A	17: 80,533,139 (GRCm39)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,343 (GRCm39)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm39)	V173L	possibly damaging	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Nacc2	T	G	2: 25,952,273 (GRCm39)	N361T	probably damaging	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,041,268 (GRCm39)	V309A	possibly damaging	Het
Nomo1	T	C	7: 45,729,018 (GRCm39)		probably null	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,957,467 (GRCm39)	I266F	probably benign	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,181,782 (GRCm39)	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,215,132 (GRCm39)		probably null	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Scai	T	A	2: 38,965,054 (GRCm39)	I597F	probably benign	Het
Sirpd	A	G	3: 15,361,661 (GRCm39)	L163P	probably damaging	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d31	C	A	15: 57,804,149 (GRCm39)	T388N	probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,240,628 (GRCm39)	S107P	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 106,571,120 (GRCm39)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,070,291 (GRCm39)	S78P	probably damaging	Het
Vac14	A	T	8: 111,362,007 (GRCm39)		probably null	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,816,056 (GRCm39)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,161,055 (GRCm39)	C370Y	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TTCTATGGCACCCAGAGGGAGAAG -3'
(R):5'- AGTGTGACATTAGGACATGCCAGC -3'

Sequencing Primer
(F):5'- AGCGTACCTTCGAATATGGC -3'
(R):5'- TGGTGATGCCCAGTCTACG -3'

Posted On

2013-05-09