Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R3916 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

44959936-44979036 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to C at 44978521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137937 (fasta)

Gene Model

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

AlphaFold

Q921R7

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: 68,562,329 (GRCm39)	F319V	possibly damaging	Het
Acad12	A	G	5: 121,737,277 (GRCm39)	V498A	probably damaging	Het
Adam19	A	G	11: 45,951,762 (GRCm39)	E37G	probably benign	Het
Anks3	A	G	16: 4,765,143 (GRCm39)	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,259,668 (GRCm39)	V600D	probably benign	Het
Arhgef18	T	C	8: 3,504,197 (GRCm39)	F939L	probably benign	Het
Arhgef2	A	G	3: 88,540,340 (GRCm39)	N127S	probably damaging	Het
Arid1b	A	G	17: 5,392,928 (GRCm39)	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,493,901 (GRCm39)	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,924,084 (GRCm39)	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,070,101 (GRCm39)	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cant1	A	G	11: 118,299,572 (GRCm39)	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,076,033 (GRCm39)	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cntnap4	C	G	8: 113,602,165 (GRCm39)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,384,362 (GRCm39)	Y567*	probably null	Het
Cyp4f18	A	T	8: 72,749,881 (GRCm39)	F256Y	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,079,716 (GRCm39)	T377A	probably damaging	Het
F2	G	A	2: 91,455,833 (GRCm39)	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,302,583 (GRCm39)	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,955,925 (GRCm39)		probably null	Het
Gabarapl2	T	A	8: 112,679,028 (GRCm39)	F115L	probably benign	Het
Heatr3	T	G	8: 88,876,999 (GRCm39)		probably null	Het
Ifi204	T	G	1: 173,583,341 (GRCm39)	K292N	possibly damaging	Het
Itpkc	A	T	7: 26,927,728 (GRCm39)	I62N	probably benign	Het
Kcnab1	G	A	3: 65,211,585 (GRCm39)		probably null	Het
Krt88	G	A	15: 101,350,809 (GRCm39)		probably null	Het
Larp4	C	T	15: 99,888,284 (GRCm39)	T107I	probably benign	Het
Lmo7	T	C	14: 102,166,778 (GRCm39)		probably benign	Het
Lrrc37a	T	C	11: 103,346,344 (GRCm39)	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,412,101 (GRCm39)	D105V	probably damaging	Het
Mst1	A	G	9: 107,961,494 (GRCm39)	I575V	probably benign	Het
Myh7	C	A	14: 55,211,503 (GRCm39)	E1555D	probably damaging	Het
Nwd1	T	A	8: 73,394,439 (GRCm39)	C608*	probably null	Het
Obox3	C	A	7: 15,361,151 (GRCm39)	C38F	probably benign	Het
P4ha2	A	G	11: 54,017,074 (GRCm39)	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,581,598 (GRCm39)	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,167,296 (GRCm39)	V259A	probably damaging	Het
Scn1a	T	C	2: 66,107,957 (GRCm39)	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,036,999 (GRCm39)	D817E	probably damaging	Het
Sema3b	A	G	9: 107,477,657 (GRCm39)	F482S	probably damaging	Het
Slc6a3	A	G	13: 73,710,427 (GRCm39)	I346V	probably benign	Het
Slu7	G	T	11: 43,331,511 (GRCm39)		probably null	Het
Spns1	A	T	7: 125,970,711 (GRCm39)		probably null	Het
Supv3l1	T	C	10: 62,285,199 (GRCm39)	D89G	possibly damaging	Het
Taf1c	G	A	8: 120,327,244 (GRCm39)	R412W	probably damaging	Het
Tctn3	T	A	19: 40,596,093 (GRCm39)	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,236,574 (GRCm39)	I296T	possibly damaging	Het
Tet2	T	C	3: 133,191,816 (GRCm39)	K873E	possibly damaging	Het
Thada	G	A	17: 84,749,210 (GRCm39)	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,782,884 (GRCm39)	N712Y	probably damaging	Het
Tnks	A	G	8: 35,320,515 (GRCm39)	S719P	probably damaging	Het
Tnrc6a	A	C	7: 122,780,607 (GRCm39)	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,174,560 (GRCm39)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,643,547 (GRCm39)	K221E	possibly damaging	Het
Uba5	A	T	9: 103,931,389 (GRCm39)	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc80	T	C	1: 66,716,654 (GRCm39)	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,314,744 (GRCm39)	G331R	probably benign	Het
Xirp2	G	T	2: 67,341,766 (GRCm39)	V1336F	probably benign	Het
Zbed5	T	C	5: 129,931,118 (GRCm39)	Y356H	possibly damaging	Het

Other mutations in Slc35a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Slc35a5	APN	16	44,972,971 (GRCm39)	nonsense	probably null
IGL01012:Slc35a5	APN	16	44,964,195 (GRCm39)	missense	probably damaging	1.00
IGL01396:Slc35a5	APN	16	44,971,866 (GRCm39)	missense	probably damaging	1.00
IGL03293:Slc35a5	APN	16	44,964,144 (GRCm39)	missense	probably damaging	1.00
3-1:Slc35a5	UTSW	16	44,964,255 (GRCm39)	missense	probably damaging	0.99
R1532:Slc35a5	UTSW	16	44,971,920 (GRCm39)	missense	probably benign	0.03
R1561:Slc35a5	UTSW	16	44,971,884 (GRCm39)	missense	possibly damaging	0.93
R1864:Slc35a5	UTSW	16	44,964,071 (GRCm39)	missense	possibly damaging	0.66
R2086:Slc35a5	UTSW	16	44,964,628 (GRCm39)	missense	probably damaging	0.99
R2887:Slc35a5	UTSW	16	44,971,923 (GRCm39)	missense	probably damaging	1.00
R2888:Slc35a5	UTSW	16	44,971,923 (GRCm39)	missense	probably damaging	1.00
R2889:Slc35a5	UTSW	16	44,971,923 (GRCm39)	missense	probably damaging	1.00
R2890:Slc35a5	UTSW	16	44,971,923 (GRCm39)	missense	probably damaging	1.00
R3080:Slc35a5	UTSW	16	44,964,758 (GRCm39)	missense	probably benign	0.06
R3434:Slc35a5	UTSW	16	44,964,396 (GRCm39)	missense	probably benign	0.23
R3720:Slc35a5	UTSW	16	44,967,685 (GRCm39)	missense	probably damaging	0.99
R3722:Slc35a5	UTSW	16	44,967,685 (GRCm39)	missense	probably damaging	0.99
R3917:Slc35a5	UTSW	16	44,978,521 (GRCm39)	intron	probably benign
R4616:Slc35a5	UTSW	16	44,964,655 (GRCm39)	missense	probably benign	0.12
R6648:Slc35a5	UTSW	16	44,964,280 (GRCm39)	missense	probably damaging	1.00
R6881:Slc35a5	UTSW	16	44,964,443 (GRCm39)	missense	possibly damaging	0.83
R7730:Slc35a5	UTSW	16	44,964,246 (GRCm39)	missense	probably damaging	0.97
R7832:Slc35a5	UTSW	16	44,964,570 (GRCm39)	missense	possibly damaging	0.76
R8113:Slc35a5	UTSW	16	44,962,551 (GRCm39)	missense	unknown
R8726:Slc35a5	UTSW	16	44,964,021 (GRCm39)	missense	probably damaging	0.98
R9478:Slc35a5	UTSW	16	44,964,426 (GRCm39)	missense	probably damaging	1.00
R9714:Slc35a5	UTSW	16	44,964,426 (GRCm39)	missense	probably damaging	1.00
R9777:Slc35a5	UTSW	16	44,972,939 (GRCm39)	critical splice donor site	probably null

Predicted Primers

Posted On

2017-04-14