Mutagenetix > Incidental Mutation

Incidental Mutation 'R9478:Slc35a5'

715958

Institutional Source

Beutler Lab

Gene Symbol

Slc35a5

Ensembl Gene

ENSMUSG00000022664

Gene Name

solute carrier family 35, member A5

Synonyms

1010001J06Rik, D730043G07Rik, D16Ertd450e

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R9478 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44959936-44979036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44964426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 269 (E269G)

Ref Sequence

ENSEMBL: ENSMUSP00000023344 (fasta)

Gene Model

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

AlphaFold

Q921R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023344
AA Change: E269G

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

SMART Domains

Protein: ENSMUSP00000023344
Gene: ENSMUSG00000022664
AA Change: E269G

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

probably benign
Transcript: ENSMUST00000114600

SMART Domains

Protein: ENSMUSP00000110247
Gene: ENSMUSG00000022664

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,451,573 (GRCm39)	I886F	possibly damaging	Het
3100002H09Rik	A	G	4: 124,504,151 (GRCm39)	S134P	unknown	Het
Abcf2	A	G	5: 24,770,940 (GRCm39)	L604P	possibly damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg14	G	T	14: 47,783,138 (GRCm39)	H373Q	probably damaging	Het
Atmin	C	T	8: 117,681,537 (GRCm39)	H179Y	probably damaging	Het
Catsperg1	G	T	7: 28,897,777 (GRCm39)	P197T	possibly damaging	Het
Ccdc7b	C	T	8: 129,837,473 (GRCm39)	Q155*	probably null	Het
Cep85l	T	G	10: 53,224,875 (GRCm39)	E238A	possibly damaging	Het
Cfap119	T	C	7: 127,184,087 (GRCm39)		probably null	Het
Cntln	G	A	4: 84,897,630 (GRCm39)	V406I	probably benign	Het
Csf2rb2	C	A	15: 78,168,965 (GRCm39)	G730V	probably benign	Het
Cyp3a59	T	A	5: 146,034,997 (GRCm39)	L225Q	probably damaging	Het
Dock1	T	A	7: 134,367,962 (GRCm39)	F511I	probably damaging	Het
Dsg1b	A	T	18: 20,531,008 (GRCm39)	Y453F		Het
Dync1h1	T	C	12: 110,625,137 (GRCm39)	F3829L	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Esco2	C	A	14: 66,068,657 (GRCm39)	G218*	probably null	Het
Gale	C	T	4: 135,692,574 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hgf	A	G	5: 16,766,029 (GRCm39)	D55G	possibly damaging	Het
Il17ra	A	G	6: 120,451,336 (GRCm39)	D170G	possibly damaging	Het
Inha	A	G	1: 75,486,562 (GRCm39)	S286G	probably benign	Het
Kif1b	C	T	4: 149,345,616 (GRCm39)		probably null	Het
Klhl24	T	G	16: 19,941,763 (GRCm39)	S570R	possibly damaging	Het
Krt87	G	A	15: 101,385,449 (GRCm39)	R308W	probably benign	Het
Lama2	T	A	10: 26,891,478 (GRCm39)	E2545V	probably damaging	Het
Lztfl1	T	C	9: 123,537,167 (GRCm39)	K165E	possibly damaging	Het
Mab21l3	A	T	3: 101,725,987 (GRCm39)	D336E	probably damaging	Het
Matn2	T	C	15: 34,345,242 (GRCm39)	I83T	probably damaging	Het
Mfsd9	T	C	1: 40,812,941 (GRCm39)	D458G	probably benign	Het
Ncbp3	A	G	11: 72,968,768 (GRCm39)	D513G	probably damaging	Het
Neb	T	A	2: 52,078,788 (GRCm39)	K5818N	probably benign	Het
Nol4	G	A	18: 23,053,934 (GRCm39)	P120S	probably damaging	Het
Oit3	C	A	10: 59,274,464 (GRCm39)	C112F	probably damaging	Het
Or11g27	A	T	14: 50,771,051 (GRCm39)	T61S	probably benign	Het
Or4b1	C	A	2: 89,979,595 (GRCm39)	A252S	possibly damaging	Het
Or5p52	G	A	7: 107,502,238 (GRCm39)	V105M	probably damaging	Het
Or6c6	T	A	10: 129,186,960 (GRCm39)	M176K	possibly damaging	Het
Pank4	G	A	4: 155,064,565 (GRCm39)	R708Q	probably benign	Het
Plch1	T	A	3: 63,606,825 (GRCm39)	L1026F	probably benign	Het
Poglut3	T	C	9: 53,303,236 (GRCm39)	F232L	probably damaging	Het
Ptpn3	A	T	4: 57,197,573 (GRCm39)	I772N	probably damaging	Het
Purb	A	G	11: 6,425,424 (GRCm39)	F155L	probably damaging	Het
Rcor2	C	T	19: 7,248,794 (GRCm39)	R256W	probably damaging	Het
Rp1	A	G	1: 4,417,545 (GRCm39)	L1189P	probably benign	Het
Scn1a	T	C	2: 66,156,493 (GRCm39)	E472G	probably benign	Het
Sema3e	T	C	5: 14,286,386 (GRCm39)	Y536H	probably damaging	Het
Serpina3n	A	T	12: 104,378,672 (GRCm39)	I331F	possibly damaging	Het
Sertad3	T	C	7: 27,175,679 (GRCm39)	S38P	probably damaging	Het
Sfrp4	G	T	13: 19,807,610 (GRCm39)	R3L	unknown	Het
Snrnp200	G	A	2: 127,076,993 (GRCm39)		probably null	Het
Sumo1	A	G	1: 59,694,615 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,154,387 (GRCm39)	K2020E	probably damaging	Het
Tcp10a	A	T	17: 7,601,740 (GRCm39)	T247S	probably benign	Het
Tgds	T	C	14: 118,352,544 (GRCm39)	D290G	possibly damaging	Het
Trav7d-3	A	T	14: 52,982,054 (GRCm39)	I32F	possibly damaging	Het
Vps41	A	G	13: 19,046,913 (GRCm39)	N788D		Het
Zfp521	G	A	18: 13,950,372 (GRCm39)	T1194I	probably damaging	Het
Zmynd8	C	A	2: 165,649,569 (GRCm39)	K841N	probably 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
R3916:Slc35a5	UTSW	16	44,978,521 (GRCm39)	intron	probably benign
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
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

PCR Primer
(F):5'- ACCTGGGCCATCAAGACATG -3'
(R):5'- ACTGTTCCCTAAGAGACAATTGTAC -3'

Sequencing Primer
(F):5'- CCACTGAAAGGCCCTGGAAG -3'
(R):5'- TACATCGAAGGAGTGGACTTTC -3'

Posted On

2022-06-15