Mutagenetix > Incidental Mutation

Incidental Mutation 'R7962:Slc35c2'

650148

Institutional Source

Beutler Lab

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 #

R7962 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165118474-165129789 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 165119462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 293 (D293N)

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 damaging
Transcript: ENSMUST00000017808
AA Change: D293N

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

SMART Domains

Protein: ENSMUSP00000017808
Gene: ENSMUSG00000017664
AA Change: D293N

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: D293N

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

SMART Domains

Protein: ENSMUSP00000104921
Gene: ENSMUSG00000017664
AA Change: D293N

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: D293N

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

SMART Domains

Protein: ENSMUSP00000104922
Gene: ENSMUSG00000017664
AA Change: D293N

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: D293N

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

SMART Domains

Protein: ENSMUSP00000104923
Gene: ENSMUSG00000017664
AA Change: D293N

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,296,428 (GRCm39)	F991L	probably damaging	Het
Ahnak	A	G	19: 8,990,164 (GRCm39)	D3816G	unknown	Het
Arhgdig	T	C	17: 26,418,608 (GRCm39)	T153A	probably damaging	Het
Ash2l	T	C	8: 26,329,792 (GRCm39)	D122G	probably damaging	Het
Bora	A	G	14: 99,310,162 (GRCm39)	K497R	probably benign	Het
Btbd9	T	C	17: 30,736,177 (GRCm39)	H312R	probably damaging	Het
Cbr2	T	C	11: 120,620,609 (GRCm39)	D225G	probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap70	G	A	14: 20,486,854 (GRCm39)	T275M	probably benign	Het
Clca4b	T	C	3: 144,622,421 (GRCm39)	D548G	possibly damaging	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cyp3a44	T	A	5: 145,738,135 (GRCm39)	I57L	probably benign	Het
Dbx2	C	T	15: 95,552,199 (GRCm39)	G149S	probably benign	Het
Dennd2a	A	G	6: 39,457,207 (GRCm39)	V745A	possibly damaging	Het
Dock10	A	T	1: 80,564,085 (GRCm39)	S509R	possibly damaging	Het
Enpp3	T	C	10: 24,660,752 (GRCm39)	Y630C	probably damaging	Het
Eomes	C	T	9: 118,307,574 (GRCm39)		probably benign	Het
Fchsd1	A	T	18: 38,097,212 (GRCm39)	V385E	probably damaging	Het
Flg	A	T	3: 93,193,984 (GRCm39)	H34L	unknown	Het
Frs3	G	T	17: 48,010,463 (GRCm39)	E32D	possibly damaging	Het
Gm14443	C	T	2: 175,012,035 (GRCm39)	C137Y	probably benign	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Havcr1	T	A	11: 46,643,402 (GRCm39)	C107*	probably null	Het
Hectd4	C	T	5: 121,448,692 (GRCm39)	R347W	probably damaging	Het
Hspbp1	A	G	7: 4,684,841 (GRCm39)		probably null	Het
Irs1	C	T	1: 82,266,443 (GRCm39)	R591H	possibly damaging	Het
Kif5b	A	G	18: 6,241,040 (GRCm39)	V23A	probably benign	Het
Myo1e	A	T	9: 70,242,501 (GRCm39)	I339F	possibly damaging	Het
Nkx2-5	T	C	17: 27,058,150 (GRCm39)	Y268C	probably damaging	Het
Or7g12	T	C	9: 18,899,952 (GRCm39)	S223P	probably damaging	Het
Polrmt	T	C	10: 79,574,623 (GRCm39)	M857V	probably damaging	Het
Prkd3	T	A	17: 79,315,691 (GRCm39)	M1L	not run	Het
Prss3b	A	C	6: 41,012,387 (GRCm39)	F9C	probably benign	Het
Psmc3	T	A	2: 90,887,007 (GRCm39)	V202E	possibly damaging	Het
Rab3d	G	A	9: 21,826,229 (GRCm39)	R93C	probably damaging	Het
Rasgrf2	A	C	13: 92,167,300 (GRCm39)	Y258D	probably damaging	Het
Rassf8	G	A	6: 145,761,669 (GRCm39)		probably null	Het
Rcbtb1	A	C	14: 59,459,016 (GRCm39)	S199R	probably benign	Het
Rif1	T	G	2: 51,964,288 (GRCm39)	V45G	probably damaging	Het
Riok3	G	A	18: 12,269,776 (GRCm39)	G69E	probably benign	Het
Scn1a	A	G	2: 66,158,786 (GRCm39)	L378P	probably damaging	Het
Sil1	A	T	18: 35,481,719 (GRCm39)	N113K	probably benign	Het
Slc37a3	A	T	6: 39,324,325 (GRCm39)	S308T	possibly damaging	Het
Smarca5	A	T	8: 81,463,388 (GRCm39)	V60E	probably benign	Het
Smok3c	T	A	5: 138,063,341 (GRCm39)	V276D	probably damaging	Het
Snx29	G	A	16: 11,231,221 (GRCm39)		probably null	Het
Spata24	T	C	18: 35,795,093 (GRCm39)	E30G	probably damaging	Het
Stard13	T	A	5: 150,975,838 (GRCm39)	I777F	probably damaging	Het
Synpo2	A	G	3: 123,029,635 (GRCm39)	C8R	probably benign	Het
Tmem104	T	C	11: 115,134,307 (GRCm39)	V281A	probably damaging	Het
Tmprss11a	C	T	5: 86,567,879 (GRCm39)	G283R	probably damaging	Het
Trpc2	G	A	7: 101,738,388 (GRCm39)	V457M	probably benign	Het
Usp53	A	T	3: 122,728,000 (GRCm39)	S861T	possibly damaging	Het
Uty	G	T	Y: 1,154,210 (GRCm39)	S738*	probably null	Het
Wdr17	C	T	8: 55,113,806 (GRCm39)		probably null	Het
Wdr7	A	T	18: 64,037,157 (GRCm39)	S1194C	probably damaging	Het
Zyx	A	C	6: 42,333,505 (GRCm39)	D477A	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
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
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'- ACCTGGCACATGAGCTACAG -3'
(R):5'- TTGCTGAGAGGCATGCATC -3'

Sequencing Primer
(F):5'- GCAACAGCTGGCAATTGGTG -3'
(R):5'- TGCATCTCAGTAACAACAGGTCTG -3'

Posted On

2020-09-15