Mutagenetix > Incidental Mutations

Incidental Mutation 'R3916:Slc35a5'

474562

Institutional Source

Beutler Lab

Gene Symbol

Slc35a5

Ensembl Gene

ENSMUSG00000022664

Gene Name

solute carrier family 35, member A5

Synonyms

1010001J06Rik, D730043G07Rik, D16Ertd450e

Accession Numbers

Genbank: NM_028756; MGI: 1921352

Is this an essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R3916 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

45139573-45158706 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to C at 45158158 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023343] [ENSMUST00000023344] [ENSMUST00000114600] [ENSMUST00000180636] [ENSMUST00000181177] [ENSMUST00000181750]

Predicted Effect

probably benign
Transcript: ENSMUST00000023343

SMART Domains

Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663

Domain	Start	End	E-Value	Type
Pfam:Autophagy_N	8	153	1.4e-55	PFAM
Pfam:Autophagy_act_C	204	265	8.8e-23	PFAM
Pfam:Autophagy_C	286	310	2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023344

SMART Domains

Protein: ENSMUSP00000023344
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	28	387	1.3e-54	PFAM
low complexity region	424	437	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000114600
AA Change: F2L

SMART Domains

Protein: ENSMUSP00000110247
Gene: ENSMUSG00000022664
AA Change: F2L

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
transmembrane domain	43	65	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:Nuc_sug_transp	107	155	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180636

SMART Domains

Protein: ENSMUSP00000137821
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
Pfam:UAA	30	196	5.2e-8	PFAM
Pfam:TPT	31	177	3.3e-7	PFAM
Pfam:EamA	73	179	1.2e-7	PFAM
Pfam:Nuc_sug_transp	91	222	7.5e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181177

SMART Domains

Protein: ENSMUSP00000137789
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	30	94	1.1e-12	PFAM
low complexity region	139	152	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181437

Predicted Effect

probably benign
Transcript: ENSMUST00000181750

SMART Domains

Protein: ENSMUSP00000137937
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
transmembrane domain	15	36	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein which belongs to subfamily 35A of the solute carrier superfamily. The encoded protein is a nucleoside-sugar transporter. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het

Other mutations in Slc35a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Slc35a5	APN	16	45152608	nonsense	probably null
IGL01012:Slc35a5	APN	16	45143832	missense	probably damaging	1.00
IGL01396:Slc35a5	APN	16	45151503	missense	probably damaging	1.00
IGL03293:Slc35a5	APN	16	45143781	missense	probably damaging	1.00
3-1:Slc35a5	UTSW	16	45143892	missense	probably damaging	0.99
R1532:Slc35a5	UTSW	16	45151557	missense	probably benign	0.03
R1561:Slc35a5	UTSW	16	45151521	missense	possibly damaging	0.93
R1864:Slc35a5	UTSW	16	45143708	missense	possibly damaging	0.66
R2086:Slc35a5	UTSW	16	45144265	missense	probably damaging	0.99
R2887:Slc35a5	UTSW	16	45151560	missense	probably damaging	1.00
R2888:Slc35a5	UTSW	16	45151560	missense	probably damaging	1.00
R2889:Slc35a5	UTSW	16	45151560	missense	probably damaging	1.00
R2890:Slc35a5	UTSW	16	45151560	missense	probably damaging	1.00
R3080:Slc35a5	UTSW	16	45144395	missense	probably benign	0.06
R3434:Slc35a5	UTSW	16	45144033	missense	probably benign	0.23
R3720:Slc35a5	UTSW	16	45147322	missense	probably damaging	0.99
R3722:Slc35a5	UTSW	16	45147322	missense	probably damaging	0.99
R3917:Slc35a5	UTSW	16	45158158	intron	probably benign
R4616:Slc35a5	UTSW	16	45144292	missense	probably benign	0.12
R6648:Slc35a5	UTSW	16	45143917	missense	probably damaging	1.00
R6881:Slc35a5	UTSW	16	45144080	missense	possibly damaging	0.83
R7730:Slc35a5	UTSW	16	45143883	missense	probably damaging	0.97
R7832:Slc35a5	UTSW	16	45144207	missense	possibly damaging	0.76
R8113:Slc35a5	UTSW	16	45142188	missense	unknown

Predicted Primers

Posted On

2017-04-14