Mutagenetix > Incidental Mutations

Incidental Mutation 'R1900:Slc35b3'

214227

Institutional Source

Beutler Lab

Gene Symbol

Slc35b3

Ensembl Gene

ENSMUSG00000021432

Gene Name

solute carrier family 35, member B3

Synonyms

4921526O06Rik, PAPST2

MMRRC Submission

039920-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.726) question?

Stock #

R1900 (G1)

Quality Score

106

Status

Validated

Chromosome

Chromosomal Location

38932136-38960875 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 38960611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021870] [ENSMUST00000167513] [ENSMUST00000224429] [ENSMUST00000224645] [ENSMUST00000225331] [ENSMUST00000225432] [ENSMUST00000225461] [ENSMUST00000225568] [ENSMUST00000225714]

AlphaFold

Q922Q5

Predicted Effect

probably null
Transcript: ENSMUST00000021870

SMART Domains

Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432

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

SMART Domains

Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223619

Predicted Effect

probably benign
Transcript: ENSMUST00000224429

Predicted Effect

probably benign
Transcript: ENSMUST00000224645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224854

Predicted Effect

probably benign
Transcript: ENSMUST00000225331

Predicted Effect

probably benign
Transcript: ENSMUST00000225432

Predicted Effect

probably benign
Transcript: ENSMUST00000225461

Predicted Effect

probably benign
Transcript: ENSMUST00000225568

Predicted Effect

probably benign
Transcript: ENSMUST00000225714

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

96% (100/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,770,583	T478A	probably damaging	Het
6330409D20Rik	T	C	2: 32,740,547		probably benign	Het
Ago4	T	C	4: 126,516,936	I221V	probably benign	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Ankrd50	T	C	3: 38,455,387	T944A	probably damaging	Het
AU040320	A	C	4: 126,853,280		probably null	Het
Axdnd1	A	G	1: 156,380,774		probably null	Het
Cdadc1	A	T	14: 59,586,532	D170E	probably damaging	Het
Cep164	C	A	9: 45,809,825	R93L	probably damaging	Het
Cep250	T	C	2: 155,985,374		probably null	Het
Cfdp1	G	A	8: 111,768,729	R286*	probably null	Het
Chrdl2	A	G	7: 100,033,664	I377V	possibly damaging	Het
Cntrob	A	T	11: 69,308,054	S623T	probably benign	Het
Col6a5	C	T	9: 105,931,213	G879S	unknown	Het
Cyp2c38	T	A	19: 39,438,312	I182F	probably benign	Het
Dennd4a	T	C	9: 64,897,336	V1319A	probably damaging	Het
Dysf	T	G	6: 84,039,567	V70G	probably damaging	Het
Edn3	A	G	2: 174,761,605	T49A	possibly damaging	Het
Elac1	C	G	18: 73,739,245	L226F	probably damaging	Het
Eps8l3	A	G	3: 107,890,952	D445G	probably benign	Het
Fam71a	T	A	1: 191,164,434	K4M	possibly damaging	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Fstl5	T	A	3: 76,708,160	W843R	probably damaging	Het
Fyb2	A	G	4: 104,945,455	R185G	probably benign	Het
Gal3st2c	G	A	1: 94,009,044	R237H	probably damaging	Het
Galnt15	G	T	14: 32,049,865	R289L	probably damaging	Het
Gdf5	T	A	2: 155,942,081	D317V	probably damaging	Het
Gm10436	A	C	12: 88,177,260	L261R	probably benign	Het
Gm7808	A	G	9: 19,928,114		probably benign	Het
Hcn3	T	C	3: 89,148,263	E559G	probably benign	Het
Hdlbp	A	T	1: 93,422,237		probably benign	Het
Hhip	T	C	8: 79,975,046	T620A	probably benign	Het
Hs3st3a1	T	C	11: 64,520,442	S269P	probably damaging	Het
Il17ra	A	T	6: 120,477,394		probably null	Het
Kif2a	T	C	13: 106,976,995	N417S	possibly damaging	Het
Klhl41	T	A	2: 69,674,619		probably benign	Het
L3mbtl4	G	T	17: 68,459,805	C169F	probably damaging	Het
Lap3	T	C	5: 45,511,910	F467S	probably damaging	Het
Lpar6	A	T	14: 73,239,139	Y180F	probably benign	Het
Lrig3	T	C	10: 126,002,393		probably benign	Het
Ltbp2	A	T	12: 84,830,658	S378T	probably damaging	Het
Ltf	T	C	9: 111,022,845	F117L	possibly damaging	Het
Med16	T	C	10: 79,898,931	E533G	probably damaging	Het
Meltf	T	C	16: 31,881,969		probably null	Het
Mphosph10	C	T	7: 64,381,028	E488K	possibly damaging	Het
Mroh1	A	G	15: 76,433,385	T812A	probably benign	Het
Mto1	T	C	9: 78,461,517		probably benign	Het
Ndst1	A	T	18: 60,712,721		probably null	Het
Ndst4	T	A	3: 125,697,895		probably null	Het
Nhlh1	A	T	1: 172,054,041	I86N	probably damaging	Het
Nme9	A	C	9: 99,459,774	D59A	probably damaging	Het
Nox4	A	T	7: 87,360,796	R402*	probably null	Het
Npr1	T	C	3: 90,462,188	D410G	probably damaging	Het
Nrip1	T	A	16: 76,292,039	T877S	probably benign	Het
Nsd2	A	G	5: 33,846,169	N221S	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1463	T	A	19: 13,234,913	I221K	possibly damaging	Het
Olfr23	C	A	11: 73,940,660	P138Q	possibly damaging	Het
Olfr250	A	T	9: 38,368,064	I173L	probably benign	Het
Olfr561	A	T	7: 102,775,331	H269L	probably benign	Het
Olfr61	A	T	7: 140,638,592	D297V	probably damaging	Het
Olfr616	A	T	7: 103,564,607	L224*	probably null	Het
Ophn1	A	T	X: 98,726,059	Y181*	probably null	Het
Parp1	A	G	1: 180,597,339	K819R	probably damaging	Het
Parp9	T	C	16: 35,972,221	S829P	probably benign	Het
Pde6c	T	A	19: 38,161,940	F511Y	probably damaging	Het
Per3	G	T	4: 151,041,426	H145Q	probably damaging	Het
Pglyrp1	C	T	7: 18,890,226	R145W	probably damaging	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Plb1	T	C	5: 32,286,847	I312T	probably benign	Het
Plin3	T	A	17: 56,279,824	T408S	possibly damaging	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prpmp5	A	T	6: 132,314,698	L11Q	unknown	Het
Ptpn6	A	G	6: 124,728,933	S83P	probably benign	Het
Rtp1	G	T	16: 23,429,299	V41L	probably benign	Het
Scn4a	A	G	11: 106,327,533	I1035T	probably damaging	Het
Sell	A	T	1: 164,065,338	Y41F	probably damaging	Het
Serping1	C	T	2: 84,771,449	V226M	probably damaging	Het
Sf3b1	A	T	1: 54,998,188	D856E	possibly damaging	Het
Sfmbt1	T	A	14: 30,802,567	Y503N	probably damaging	Het
Slc16a1	T	A	3: 104,653,564	V395D	probably damaging	Het
Slc22a7	A	T	17: 46,438,231	D53E	probably benign	Het
Slc6a1	T	C	6: 114,311,854	M274T	possibly damaging	Het
Slco1a5	A	G	6: 142,242,063	S517P	probably benign	Het
Smo	A	G	6: 29,736,056	R16G	unknown	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Sspo	A	G	6: 48,459,350	I1086M	probably benign	Het
Tas2r106	A	T	6: 131,678,410	N159K	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tmeff1	T	C	4: 48,658,938		probably benign	Het
Tmem140	G	A	6: 34,872,903	C118Y	possibly damaging	Het
Tmem168	A	G	6: 13,583,071	C220R	probably benign	Het
Tox2	A	T	2: 163,276,167	N129Y	probably damaging	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unk	T	G	11: 116,059,081	D691E	probably benign	Het
Uox	T	A	3: 146,610,379	V23D	probably damaging	Het
Vps13d	A	G	4: 145,126,606	C2313R	probably benign	Het
Zfp804b	T	A	5: 6,769,283	H1260L	probably damaging	Het
Zfyve26	A	G	12: 79,264,351	L147P	probably damaging	Het
Zmynd10	A	T	9: 107,550,037	Q288L	probably benign	Het
Zzef1	T	A	11: 72,848,714	D662E	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
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

Predicted Primers

PCR Primer
(F):5'- CCTTCTCTGTTGACACGGTG -3'
(R):5'- CCTTTGAATCAAAAGGTGGAGG -3'

Sequencing Primer
(F):5'- AGTTCTGCCTGACGACGC -3'
(R):5'- TCAAAAGGTGGAGGCTGGG -3'

Posted On

2014-07-14