Mutagenetix > Incidental Mutations

Incidental Mutation 'R4955:Slc35b3'

381545

Institutional Source

Beutler Lab

Gene Symbol

Slc35b3

Ensembl Gene

ENSMUSG00000021432

Gene Name

solute carrier family 35, member B3

Synonyms

4921526O06Rik, PAPST2

MMRRC Submission

042552-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R4955 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38932136-38960875 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38932890 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 329 (V329A)

Ref Sequence

ENSEMBL: ENSMUSP00000153046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021870] [ENSMUST00000167513] [ENSMUST00000224429] [ENSMUST00000224645] [ENSMUST00000225396] [ENSMUST00000225432] [ENSMUST00000225461] [ENSMUST00000225568] [ENSMUST00000225714]

AlphaFold

Q922Q5

Predicted Effect

probably benign
Transcript: ENSMUST00000021870
AA Change: V373A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432
AA Change: V373A

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:UAA	92	383	3.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167513
AA Change: V329A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432
AA Change: V329A

Domain	Start	End	E-Value	Type
Pfam:UAA	49	343	4e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224429

Predicted Effect

probably benign
Transcript: ENSMUST00000224645

Predicted Effect

probably benign
Transcript: ENSMUST00000225396

Predicted Effect

probably benign
Transcript: ENSMUST00000225432
AA Change: V329A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000225461

Predicted Effect

probably benign
Transcript: ENSMUST00000225568
AA Change: V231A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000225714

Meta Mutation Damage Score

0.2829

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,169,110		probably benign	Het
3110009E18Rik	G	T	1: 120,169,119		probably benign	Het
3110009E18Rik	C	T	1: 120,169,120		probably benign	Het
4933407L21Rik	T	A	1: 85,931,287		probably benign	Het
Abca8a	T	G	11: 110,036,512	E1338D	probably benign	Het
Arl2bp	G	A	8: 94,670,428		probably null	Het
Arsj	T	C	3: 126,438,540	Y312H	probably benign	Het
Atp8b2	G	T	3: 89,952,920		probably benign	Het
Cdh20	T	C	1: 104,984,803	V594A	probably damaging	Het
Cfap44	T	A	16: 44,475,277	V1646E	possibly damaging	Het
Csmd3	A	T	15: 48,673,518	I96K	probably damaging	Het
Dusp27	T	C	1: 166,108,092	Y179C	probably damaging	Het
Fbn2	T	C	18: 58,058,383	Q1556R	possibly damaging	Het
Fstl5	T	A	3: 76,223,876		probably null	Het
Hist1h4i	T	A	13: 22,041,185	I47F	probably damaging	Het
Hivep2	T	A	10: 14,130,958	M1100K	probably benign	Het
Ing4	C	T	6: 125,048,201	A225V	probably damaging	Het
Kcnc3	CTT	CT	7: 44,591,296		probably null	Het
Khdrbs2	T	A	1: 32,520,077		probably benign	Het
Kif21a	A	T	15: 90,937,190	W1566R	probably damaging	Het
Lrfn5	A	C	12: 61,839,978	D184A	probably benign	Het
Mettl2	C	T	11: 105,137,779	T319I	possibly damaging	Het
Mgrn1	T	C	16: 4,934,219	V529A	probably benign	Het
Naca	T	A	10: 128,042,215		probably benign	Het
Ninj2	A	G	6: 120,197,946	N26S	probably damaging	Het
Nqo1	A	G	8: 107,388,857	S263P	probably benign	Het
Obscn	T	C	11: 59,069,172	T3566A	probably benign	Het
Olfr1287	A	T	2: 111,449,605	H155L	probably damaging	Het
Olfr224	A	G	11: 58,566,518	Y276H	probably damaging	Het
Olfr243	A	T	7: 103,716,705	Y37F	probably benign	Het
Olfr761	T	C	17: 37,952,898	N42S	probably damaging	Het
Opn5	A	T	17: 42,611,238	F24L	probably damaging	Het
Palmd	A	G	3: 116,924,224	V208A	probably damaging	Het
Plekhd1	T	A	12: 80,722,021	I426N	possibly damaging	Het
Polq	T	G	16: 37,061,082	Y1203D	probably benign	Het
Prex1	A	G	2: 166,573,223	F251S	probably damaging	Het
Prkd3	T	C	17: 78,952,727	M816V	probably null	Het
Rab3gap2	C	T	1: 185,267,155		probably benign	Het
Rcan2	C	A	17: 44,037,081	P13Q	probably damaging	Het
Slc5a1	T	C	5: 33,160,902	M633T	probably benign	Het
Stac2	A	C	11: 98,043,548	L110R	possibly damaging	Het
Tecpr1	T	C	5: 144,217,257	E126G	probably damaging	Het
Ttll6	A	G	11: 96,138,789	D176G	possibly damaging	Het
Utrn	C	T	10: 12,861,567		probably null	Het
Zfp341	T	C	2: 154,638,030	V467A	probably damaging	Het

Other mutations in Slc35b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Slc35b3	APN	13	38943140	missense	possibly damaging	0.82
IGL02111:Slc35b3	APN	13	38955782	missense	probably damaging	0.99
R0883:Slc35b3	UTSW	13	38937275	missense	probably benign	0.09
R1170:Slc35b3	UTSW	13	38937331	missense	probably benign	0.03
R1440:Slc35b3	UTSW	13	38954134	nonsense	probably null
R1653:Slc35b3	UTSW	13	38955798	missense	probably benign	0.02
R1900:Slc35b3	UTSW	13	38960611	critical splice donor site	probably null
R3874:Slc35b3	UTSW	13	38943068	missense	possibly damaging	0.66
R3897:Slc35b3	UTSW	13	38934763	missense	probably benign	0.09
R4399:Slc35b3	UTSW	13	38937815	missense	possibly damaging	0.95
R4937:Slc35b3	UTSW	13	38932911	missense	possibly damaging	0.89
R5034:Slc35b3	UTSW	13	38943158	missense	probably damaging	1.00
R5770:Slc35b3	UTSW	13	38937758	missense	probably damaging	0.98
R6155:Slc35b3	UTSW	13	38944596	missense	probably damaging	1.00
R6663:Slc35b3	UTSW	13	38954136	missense	probably damaging	0.99
R7701:Slc35b3	UTSW	13	38944635	missense	probably benign	0.03
R8534:Slc35b3	UTSW	13	38944590	missense	probably benign	0.17
R8796:Slc35b3	UTSW	13	38937746	critical splice donor site	probably benign
R8950:Slc35b3	UTSW	13	38954121	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAATCTGCTCATCTGACAGCG -3'
(R):5'- AAACCGGACCAGGCTTCATG -3'

Sequencing Primer
(F):5'- ATCTGACAGCGGCCTTCAGATC -3'
(R):5'- GGACCAGGCTTCATGAACCC -3'

Posted On

2016-04-27