Mutagenetix > Incidental Mutations

Incidental Mutation 'R5034:Slc35b3'

389463

Institutional Source

Beutler Lab

Gene Symbol

Slc35b3

Ensembl Gene

ENSMUSG00000021432

Gene Name

solute carrier family 35, member B3

Synonyms

4921526O06Rik, PAPST2

MMRRC Submission

042625-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R5034 (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 38943158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 163 (Y163H)

Ref Sequence

ENSEMBL: ENSMUSP00000153046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021870] [ENSMUST00000167513] [ENSMUST00000224429] [ENSMUST00000224645] [ENSMUST00000225331] [ENSMUST00000225396] [ENSMUST00000225432] [ENSMUST00000225461] [ENSMUST00000225568] [ENSMUST00000225714]

AlphaFold

Q922Q5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021870
AA Change: Y207H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432
AA Change: Y207H

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 damaging
Transcript: ENSMUST00000167513
AA Change: Y163H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432
AA Change: Y163H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223619

Predicted Effect

probably benign
Transcript: ENSMUST00000224429

Predicted Effect

probably benign
Transcript: ENSMUST00000224645

Predicted Effect

probably benign
Transcript: ENSMUST00000225331

Predicted Effect

probably benign
Transcript: ENSMUST00000225396

Predicted Effect

probably damaging
Transcript: ENSMUST00000225432
AA Change: Y163H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000225461
AA Change: V111A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225568
AA Change: Y65H

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000225714
AA Change: V111A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.6884

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,791,388	V368A	probably damaging	Het
Acaca	T	A	11: 84,245,264	S482T	probably benign	Het
Adam6b	G	T	12: 113,490,927	G455C	probably damaging	Het
Ahsg	C	A	16: 22,898,900	P237Q	probably damaging	Het
Asxl2	A	G	12: 3,502,193	S1312G	probably damaging	Het
Brinp3	C	T	1: 146,727,720		probably benign	Het
Col12a1	T	C	9: 79,657,367	H1677R	probably damaging	Het
Cops7a	A	G	6: 124,962,620		probably null	Het
Csmd2	G	A	4: 128,059,108	A117T	probably damaging	Het
Csmd3	T	C	15: 47,629,287	R3153G	possibly damaging	Het
Dctn4	A	G	18: 60,552,884	N342D	probably benign	Het
Dennd5a	A	T	7: 109,899,797	I953N	probably damaging	Het
Dmwd	T	C	7: 19,080,294	S290P	probably damaging	Het
Dsc1	T	A	18: 20,095,027	Y424F	possibly damaging	Het
Far2	C	A	6: 148,173,441	L391M	probably benign	Het
Foxd3	G	A	4: 99,657,090	G156S	probably damaging	Het
Galk2	A	T	2: 125,929,575	E173D	probably benign	Het
Hcar1	T	C	5: 123,879,669		probably benign	Het
Hsd17b11	C	T	5: 104,018,221	V91M	possibly damaging	Het
Ighv1-77	C	T	12: 115,861,874	C115Y	probably damaging	Het
Ighv9-2	A	G	12: 114,109,405	F9S	probably damaging	Het
Kdm6b	A	G	11: 69,401,910		probably benign	Het
Kif21a	T	A	15: 90,968,358	R890W	probably null	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Magel2	A	T	7: 62,379,868	H840L	unknown	Het
Mrgpra4	A	G	7: 47,981,569	F95L	probably benign	Het
Myo7b	A	G	18: 31,971,387	L1436P	probably damaging	Het
Nf1	C	T	11: 79,444,150	P943S	probably damaging	Het
Obscn	T	A	11: 59,061,676	R4153*	probably null	Het
Olfr1026	C	A	2: 85,923,547	S93Y	probably damaging	Het
Oosp2	T	C	19: 11,651,535	I67M	probably damaging	Het
Pcdh9	T	A	14: 93,326,849	D1023V	probably benign	Het
Pcdhb14	T	C	18: 37,448,806	S322P	probably damaging	Het
Pde2a	A	G	7: 101,502,024	D285G	probably benign	Het
Pde5a	G	C	3: 122,852,586	G809R	probably damaging	Het
Pde5a	G	T	3: 122,852,587	G809V	probably damaging	Het
Pphln1	T	C	15: 93,452,129	V120A	probably benign	Het
Rictor	T	C	15: 6,768,095	S311P	probably damaging	Het
Rilpl1	T	C	5: 124,493,824	D153G	probably damaging	Het
Rmdn3	G	T	2: 119,147,577	A181E	probably damaging	Het
Rnf213	G	A	11: 119,410,807	V369M	probably damaging	Het
Scyl1	T	A	19: 5,759,994	R601S	probably benign	Het
Sdcbp	G	A	4: 6,393,118		probably null	Het
Sept8	A	G	11: 53,534,438	T53A	probably damaging	Het
Sfpq	A	G	4: 127,023,669		probably benign	Het
Sra1	A	G	18: 36,678,995		probably null	Het
Sspo	A	T	6: 48,480,823	N3231Y	possibly damaging	Het
Tcf3	A	G	10: 80,417,543	V218A	possibly damaging	Het
Tgm3	T	C	2: 130,037,484	V332A	possibly damaging	Het
Tmprss11f	C	T	5: 86,591,384		probably benign	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Trdv2-2	C	A	14: 53,961,425	Y57*	probably null	Het
Trim50	T	C	5: 135,367,293	V365A	possibly damaging	Het
Ubash3b	T	C	9: 41,029,740	Q245R	probably benign	Het
Ulk3	T	A	9: 57,593,764	V338E	possibly damaging	Het
Usf3	A	C	16: 44,216,399	K414T	probably damaging	Het
Usp48	C	T	4: 137,606,757	R161*	probably null	Het
Vps18	A	T	2: 119,293,306	D238V	probably benign	Het
Zfp354c	T	C	11: 50,815,039	E403G	probably benign	Het
Zscan18	A	G	7: 12,774,145	V476A	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
R4955:Slc35b3	UTSW	13	38932890	missense	probably benign	0.08
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'- AAGTCCGAGTGAGAGCCTTG -3'
(R):5'- ACCTCCTAGGATTGTTGTATGC -3'

Sequencing Primer
(F):5'- GTGGGACCCACGGACATTATAAC -3'
(R):5'- ATGCTTGCTCTGAGTGTTCC -3'

Posted On

2016-06-06