Mutagenetix > Incidental Mutation

Incidental Mutation 'R0883:Slc35b3'

80904

Institutional Source

Beutler Lab

Gene Symbol

Slc35b3

Ensembl Gene

ENSMUSG00000021432

Gene Name

solute carrier family 35, member B3

Synonyms

4921526O06Rik, PAPST2

MMRRC Submission

039050-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R0883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38932136-38960875 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38937275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 330 (I330V)

Ref Sequence

ENSEMBL: ENSMUSP00000021870 (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: I330V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432
AA Change: I330V

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: I286V

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432
AA Change: I286V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223619

Predicted Effect

probably benign
Transcript: ENSMUST00000224429

Predicted Effect

probably benign
Transcript: ENSMUST00000224645
AA Change: I113V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000225396
AA Change: I122V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000225432
AA Change: I286V

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000225461

Predicted Effect

probably benign
Transcript: ENSMUST00000225568
AA Change: I188V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000225714

Meta Mutation Damage Score

0.1187

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

98% (148/151)

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: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,871	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,648,821	*118W	probably null	Het
1700061G19Rik	A	T	17: 56,883,835	N468Y	probably benign	Het
4930595M18Rik	G	T	X: 81,420,931	T390N	possibly damaging	Het
Abca13	C	T	11: 9,291,238	Q1034*	probably null	Het
Adgra3	T	C	5: 49,960,723	H1161R	probably damaging	Het
AF529169	T	C	9: 89,602,417	H309R	probably benign	Het
Aff1	T	C	5: 103,826,138		probably benign	Het
Agap2	A	G	10: 127,091,702	T1131A	possibly damaging	Het
Ankrd12	A	G	17: 65,985,132	V1102A	probably benign	Het
Ankrd54	A	T	15: 79,062,731	C23S	probably damaging	Het
Anxa10	C	T	8: 62,077,967	V70I	probably benign	Het
Asap3	T	C	4: 136,234,325		probably benign	Het
Asb13	T	C	13: 3,645,052		probably null	Het
Atp6v1a	A	T	16: 44,101,692		probably benign	Het
Atp8b1	T	G	18: 64,564,541	I411L	probably benign	Het
Baiap3	T	A	17: 25,249,101	N313I	probably damaging	Het
Bok	T	C	1: 93,686,487	I14T	probably benign	Het
Bri3bp	T	A	5: 125,441,744		probably null	Het
C2cd2l	A	G	9: 44,316,202	L186P	probably damaging	Het
Cadm2	A	T	16: 66,882,814	C44S	probably damaging	Het
Capn11	T	C	17: 45,638,881		probably benign	Het
Carm1	T	A	9: 21,569,591		probably benign	Het
Ccdc189	T	C	7: 127,584,862	E261G	probably damaging	Het
Ccdc27	T	C	4: 154,036,484	E285G	unknown	Het
Cct3	T	A	3: 88,313,557	D298E	probably damaging	Het
Cd59b	T	A	2: 104,080,986		probably benign	Het
Cdh2	T	C	18: 16,629,576	N437S	probably benign	Het
Celsr3	T	A	9: 108,842,633	I2470N	probably damaging	Het
Cfap100	G	A	6: 90,415,906		probably benign	Het
Cfap45	A	T	1: 172,532,189	R98S	possibly damaging	Het
Cfap54	T	A	10: 92,870,669	H2757L	unknown	Het
Chd1	C	A	17: 15,725,431	N72K	probably benign	Het
Cntn4	A	T	6: 106,667,540		probably benign	Het
Cstf2t	A	T	19: 31,084,626	M521L	probably benign	Het
Daam2	A	T	17: 49,498,883		probably benign	Het
Ddias	A	T	7: 92,859,337	W457R	probably benign	Het
Ddr2	C	T	1: 169,994,629	V417I	probably benign	Het
Dhx57	T	C	17: 80,270,371	T570A	probably damaging	Het
Dmp1	A	G	5: 104,207,630	E32G	possibly damaging	Het
Dtymk	C	T	1: 93,801,788	V14M	possibly damaging	Het
Dync2li1	G	A	17: 84,649,271	M286I	probably benign	Het
Eea1	G	A	10: 96,021,667	D664N	possibly damaging	Het
Esp6	G	T	17: 40,565,396	V112L	probably benign	Het
Fam83h	G	T	15: 76,006,169	Q127K	probably damaging	Het
Gabbr2	G	A	4: 46,677,474	T802I	probably benign	Het
Gart	C	A	16: 91,623,403	D851Y	possibly damaging	Het
Gemin6	T	A	17: 80,228,095	H161Q	probably damaging	Het
Gm10912	T	C	2: 104,066,530	S5P	probably benign	Het
Gm4907	A	T	X: 23,907,051	I264F	probably benign	Het
Gm5941	G	A	X: 92,490,211	A62T	possibly damaging	Het
Gng2	G	T	14: 19,891,295	D26E	probably benign	Het
Gpr33	A	G	12: 52,023,635	V207A	probably benign	Het
Gstm3	T	A	3: 107,966,270		probably benign	Het
Havcr1	T	C	11: 46,752,432	C60R	probably damaging	Het
Hspg2	T	C	4: 137,541,440	S2157P	probably benign	Het
Ift140	A	G	17: 25,090,933	T1105A	probably benign	Het
Igsf8	C	A	1: 172,316,259	A56D	possibly damaging	Het
Kat6a	G	T	8: 22,862,214	A5S	probably damaging	Het
Kctd16	A	G	18: 40,530,775	E319G	probably damaging	Het
Kmo	T	C	1: 175,647,140	V157A	possibly damaging	Het
Lrp5	T	A	19: 3,605,308	I1071F	probably damaging	Het
Lrrc17	A	G	5: 21,561,278	T253A	probably benign	Het
Mast2	T	A	4: 116,311,767	H769L	probably damaging	Het
Mast4	T	C	13: 102,853,900	K50E	probably damaging	Het
Mbd5	A	G	2: 49,256,689	T304A	possibly damaging	Het
Mbp	T	C	18: 82,572,870	S73P	probably damaging	Het
Mc5r	T	A	18: 68,339,092	V174E	probably damaging	Het
Med13	T	A	11: 86,307,038	T736S	probably benign	Het
Med13l	T	C	5: 118,671,002		probably benign	Het
Mlh3	C	G	12: 85,235,714	A1382P	possibly damaging	Het
Mpdz	T	C	4: 81,359,991		probably benign	Het
Muc5ac	A	G	7: 141,796,265	T582A	possibly damaging	Het
Mum1l1	T	A	X: 139,235,695	D327E	probably damaging	Het
Nalcn	A	G	14: 123,464,740	F453S	probably damaging	Het
Nrap	T	A	19: 56,345,474	M902L	probably damaging	Het
Nup85	C	T	11: 115,568,370	R100*	probably null	Het
Nxf1	T	G	19: 8,764,591	N296K	probably damaging	Het
Ogg1	A	G	6: 113,328,420	T65A	probably damaging	Het
Ogt	A	G	X: 101,644,199		probably benign	Het
Olfr1258	A	G	2: 89,930,201	T131A	probably benign	Het
Olfr1298	C	T	2: 111,645,791	V69I	probably benign	Het
Olfr504	T	A	7: 108,565,276	N173I	probably benign	Het
Olfr558	T	A	7: 102,709,995	H245Q	probably damaging	Het
Ovol2	T	C	2: 144,331,790	D24G	probably damaging	Het
Pabpc1	A	G	15: 36,599,054		probably benign	Het
Pak6	T	C	2: 118,693,687	L441P	probably damaging	Het
Pappa	T	A	4: 65,189,315	C654*	probably null	Het
Paqr6	T	A	3: 88,365,991	S97T	probably damaging	Het
Parp14	T	C	16: 35,858,518	N360S	probably benign	Het
Pclo	G	T	5: 14,677,859	G2244*	probably null	Het
Pdzrn3	A	T	6: 101,155,942		probably null	Het
Pes1	T	C	11: 3,975,557	M220T	probably damaging	Het
Phip	A	T	9: 82,876,221	V1473E	probably benign	Het
Pkd2l2	T	A	18: 34,430,268		probably null	Het
Plch1	T	C	3: 63,753,256	D302G	probably damaging	Het
Plekhh2	A	G	17: 84,618,031	T1419A	probably benign	Het
Ppara	A	T	15: 85,798,171	E356V	probably damaging	Het
Ppp1r37	G	A	7: 19,532,177	P555S	probably benign	Het
Ppp6r1	T	C	7: 4,639,710	E545G	possibly damaging	Het
Proser3	G	A	7: 30,540,699	H327Y	probably damaging	Het
Prss43	T	A	9: 110,829,508	I292N	probably damaging	Het
Pygl	G	C	12: 70,206,404	N271K	probably damaging	Het
Rassf7	T	A	7: 141,216,990		probably benign	Het
Rfx2	T	C	17: 56,803,722	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,208,478	V214A	probably benign	Het
Rspo1	T	A	4: 124,991,432		probably null	Het
Sav1	A	C	12: 69,966,205	L366V	probably benign	Het
Sema3b	T	G	9: 107,604,156	T52P	possibly damaging	Het
Senp6	A	G	9: 80,116,559	D40G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,268,207	S719P	probably damaging	Het
Shank1	C	T	7: 44,352,294	R1146W	unknown	Het
Slc34a3	G	T	2: 25,231,233	D307E	probably benign	Het
Slc4a10	G	A	2: 62,243,398	C268Y	probably benign	Het
Slco6d1	A	G	1: 98,421,399	E65G	probably benign	Het
Slit2	A	G	5: 48,245,573		probably benign	Het
Smcr8	T	C	11: 60,778,115	Y30H	probably damaging	Het
Snap47	A	G	11: 59,438,500		probably benign	Het
Snrnp25	G	A	11: 32,206,960	V15I	probably damaging	Het
Spns2	T	C	11: 72,454,397	Y449C	probably damaging	Het
Stab2	T	A	10: 86,924,450		probably benign	Het
Strip1	C	A	3: 107,614,613	D750Y	probably damaging	Het
Taf1c	A	T	8: 119,599,983	I438N	probably damaging	Het
Tbc1d2	T	A	4: 46,609,003	K745*	probably null	Het
Tctn1	T	C	5: 122,264,144	T76A	probably damaging	Het
Tfpi	T	C	2: 84,443,320		probably benign	Het
Timm44	A	T	8: 4,266,592	H317Q	probably benign	Het
Tnfaip1	A	T	11: 78,530,014		probably benign	Het
Tnpo3	A	T	6: 29,554,993		probably benign	Het
Top3b	T	C	16: 16,879,437		probably benign	Het
Trak1	T	A	9: 121,453,285	M410K	possibly damaging	Het
Trpm3	C	A	19: 22,978,654	P1160Q	probably damaging	Het
Tyk2	T	A	9: 21,111,137	T799S	possibly damaging	Het
Ubfd1	G	A	7: 122,067,491		probably benign	Het
Unc13a	G	A	8: 71,642,173	R1272*	probably null	Het
Unc45b	T	A	11: 82,940,205	L797Q	possibly damaging	Het
Urb2	C	T	8: 124,030,970	Q1139*	probably null	Het
Vmn2r66	A	T	7: 85,007,862	S112T	probably benign	Het
Vmn2r71	A	T	7: 85,623,634	D552V	probably benign	Het
Vmn2r76	A	G	7: 86,228,696	Y498H	probably benign	Het
Vmn2r84	A	C	10: 130,391,115	W285G	probably damaging	Het
Vps72	G	T	3: 95,122,583	L304F	probably damaging	Het
Wiz	A	T	17: 32,356,441	I907N	probably damaging	Het
Yaf2	T	C	15: 93,285,536	K131R	probably damaging	Het
Zfp141	A	T	7: 42,476,056	Y331N	possibly damaging	Het
Zfp324	G	T	7: 12,971,024	C380F	probably damaging	Het
Zfp521	T	C	18: 13,845,062	T765A	probably benign	Het
Zfp616	A	T	11: 74,085,674	H923L	probably damaging	Het
Zfpm1	C	T	8: 122,335,846	T548M	probably damaging	Het
Zp2	A	T	7: 120,143,576		probably benign	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
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
R4955:Slc35b3	UTSW	13	38932890	missense	probably benign	0.08
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
R9185:Slc35b3	UTSW	13	38939982	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGACACACTCATCACTGCTGAAG -3'
(R):5'- TGACTTATTGCCACTCAGGACGC -3'

Sequencing Primer
(F):5'- ccagggatgcaccgcag -3'
(R):5'- CTCAGGACGCTGATTAAAATGTGTG -3'

Posted On

2013-11-07