Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Slc35b3'

99334

Institutional Source

Beutler Lab

Gene Symbol

Slc35b3

Ensembl Gene

ENSMUSG00000021432

Gene Name

solute carrier family 35, member B3

Synonyms

4921526O06Rik, PAPST2

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38932136-38960875 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38937331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 311 (Y311F)

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: Y311F

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

SMART Domains

Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432
AA Change: Y311F

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: Y267F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432
AA Change: Y267F

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: Y94F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000225396
AA Change: Y103F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000225432
AA Change: Y267F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000225461

Predicted Effect

probably benign
Transcript: ENSMUST00000225568
AA Change: Y169F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000225714

Meta Mutation Damage Score

0.0731

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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
1700025G04Rik	A	G	1: 151,980,412		probably benign	Het
4932438A13Rik	T	C	3: 37,044,631	S1136P	probably damaging	Het
Akap9	G	A	5: 4,055,671	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840		probably benign	Het
Asb15	T	C	6: 24,562,487		probably benign	Het
Asxl3	C	A	18: 22,524,507	P1858Q	probably benign	Het
BC003331	T	A	1: 150,386,391	E99D	probably benign	Het
Bud31	T	A	5: 145,142,578		probably benign	Het
C1qtnf1	G	T	11: 118,448,269	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970		probably benign	Het
Cd36	T	A	5: 17,813,088	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Dcdc2a	C	A	13: 25,056,307	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705	A753T	probably damaging	Het
Fam35a	A	T	14: 34,268,491	S153T	possibly damaging	Het
Fam47e	G	C	5: 92,565,922		probably benign	Het
Fastkd1	A	G	2: 69,708,649		probably benign	Het
Fmnl1	G	A	11: 103,197,370	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666		probably benign	Het
Fsip2	A	G	2: 82,991,500	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693	C93*	probably null	Het
Lig1	C	T	7: 13,292,153	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229		probably benign	Het
Map3k14	A	G	11: 103,238,917		probably benign	Het
Mdm4	A	T	1: 132,991,820	C436S	probably damaging	Het
Mdm4	A	G	1: 133,012,692	L33P	probably damaging	Het
Meiob	T	C	17: 24,836,484	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039	R156H	probably benign	Het
Myo15	G	T	11: 60,479,407	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211		probably benign	Het
Nr4a3	A	G	4: 48,051,564	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324	K619R	probably benign	Het
Nrg1	T	C	8: 31,837,667		probably benign	Het
Olfr1031	A	T	2: 85,992,696	N293I	probably damaging	Het
Olfr1312	A	T	2: 112,042,215	D272E	probably benign	Het
Olfr1484	T	C	19: 13,586,213	V260A	probably benign	Het
Olfr938	T	A	9: 39,078,229	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005		probably benign	Het
Pde2a	A	G	7: 101,484,543	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302		probably benign	Het
Pip4k2c	A	G	10: 127,211,393	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744		probably benign	Het
Plk4	A	G	3: 40,801,847	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547		probably null	Het
Prx	T	A	7: 27,518,007	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527		probably benign	Het
Rbm5	A	T	9: 107,742,497	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752	Y222*	probably null	Het
Slc10a1	T	A	12: 80,956,028	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977	G584V	probably damaging	Het
Slc44a5	A	G	3: 154,257,720		probably null	Het
Slc6a9	A	G	4: 117,864,806	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732		probably null	Het
Spast	A	G	17: 74,381,968		probably null	Het
Spink5	A	T	18: 43,983,563	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453		probably benign	Het
Stambp	A	G	6: 83,563,821		probably null	Het
Sult3a2	A	T	10: 33,777,192	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820		probably benign	Het
Wdr11	T	C	7: 129,607,107		probably benign	Het
Wdr26	A	T	1: 181,181,294		probably benign	Het
Wdtc1	A	G	4: 133,297,546	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865		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
R0883:Slc35b3	UTSW	13	38937275	missense	probably benign	0.09
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

Posted On

2014-01-15