Mutagenetix > Incidental Mutation

Incidental Mutation 'R8796:Slc35b3'

671274

Institutional Source

Beutler Lab

Gene Symbol

Slc35b3

Ensembl Gene

ENSMUSG00000021432

Gene Name

solute carrier family 35, member B3

Synonyms

PAPST2, 4921526O06Rik

MMRRC Submission

068637-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.635) question?

Stock #

R8796 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39116112-39144851 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

C to T at 39121722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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

probably benign
Transcript: ENSMUST00000224429

Predicted Effect

probably benign
Transcript: ENSMUST00000224645

Predicted Effect

probably benign
Transcript: ENSMUST00000225396

Predicted Effect

probably benign
Transcript: ENSMUST00000225432

Predicted Effect

probably benign
Transcript: ENSMUST00000225461

Predicted Effect

probably benign
Transcript: ENSMUST00000225568

Predicted Effect

probably benign
Transcript: ENSMUST00000225714

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,629,482 (GRCm39)	T182S	possibly damaging	Het
Abca12	A	C	1: 71,297,248 (GRCm39)		probably benign	Het
Aco1	T	A	4: 40,179,037 (GRCm39)	D345E	probably benign	Het
Acp6	T	C	3: 97,066,509 (GRCm39)	V9A	probably benign	Het
Akap1	A	C	11: 88,730,498 (GRCm39)	I597S	probably damaging	Het
B4galnt4	C	T	7: 140,647,488 (GRCm39)	T385I	probably damaging	Het
Bbof1	A	T	12: 84,460,068 (GRCm39)	T112S	possibly damaging	Het
Chd7	C	A	4: 8,838,691 (GRCm39)	H1297N	probably damaging	Het
Cldn15	T	C	5: 137,003,351 (GRCm39)	F147L	probably damaging	Het
Coq7	C	T	7: 118,126,640 (GRCm39)	E143K	probably damaging	Het
Ctnnb1	A	G	9: 120,784,498 (GRCm39)	N430S	probably damaging	Het
Cxcl12	G	T	6: 117,155,553 (GRCm39)	K92N	possibly damaging	Het
Dscaml1	T	C	9: 45,359,026 (GRCm39)	F95S	probably damaging	Het
Epha5	T	A	5: 84,255,850 (GRCm39)	H480L	probably damaging	Het
Fbxo30	G	A	10: 11,165,320 (GRCm39)	C14Y	probably damaging	Het
Gja5	A	G	3: 96,958,419 (GRCm39)	I159V	possibly damaging	Het
Herc2	A	T	7: 55,785,123 (GRCm39)	Q1487L	probably benign	Het
Hipk2	T	A	6: 38,675,158 (GRCm39)	Q1168L	probably damaging	Het
Kcnk12	T	A	17: 88,054,020 (GRCm39)	Y214F	probably damaging	Het
Kif5b	T	C	18: 6,226,965 (GRCm39)	K98E	probably benign	Het
Lama1	T	A	17: 68,117,146 (GRCm39)	N2480K		Het
Lrp1b	A	G	2: 40,793,426 (GRCm39)	C2610R		Het
Mast4	T	C	13: 102,919,899 (GRCm39)	Y536C	probably benign	Het
Ntrk1	A	G	3: 87,690,422 (GRCm39)	S407P	probably benign	Het
Ogdh	T	A	11: 6,297,129 (GRCm39)	M527K	possibly damaging	Het
Or51b6	T	C	7: 103,556,201 (GRCm39)	V182A		Het
Or5m9b	G	A	2: 85,905,518 (GRCm39)	V145M	possibly damaging	Het
Plxdc1	A	G	11: 97,847,407 (GRCm39)	S89P	probably benign	Het
Prdm2	A	G	4: 142,860,017 (GRCm39)	I1091T	probably benign	Het
Psg16	C	A	7: 16,827,814 (GRCm39)	H166N	possibly damaging	Het
Qrfpr	T	A	3: 36,234,345 (GRCm39)	Y332F	probably damaging	Het
Rab31	A	T	17: 66,079,529 (GRCm39)	I4K	possibly damaging	Het
Ranbp10	C	A	8: 106,499,665 (GRCm39)		probably benign	Het
Rasgrf2	T	C	13: 92,038,685 (GRCm39)	S453G		Het
Rxfp2	C	T	5: 149,942,262 (GRCm39)		probably benign	Het
S100a8	A	G	3: 90,576,865 (GRCm39)	E6G	probably damaging	Het
Sart1	T	C	19: 5,438,376 (GRCm39)	K94E	probably damaging	Het
Sema4d	A	T	13: 51,865,546 (GRCm39)	F297I	probably damaging	Het
Sgk2	A	G	2: 162,848,723 (GRCm39)	K287E	probably damaging	Het
Sgsm1	T	A	5: 113,411,123 (GRCm39)	T868S	probably benign	Het
Skint6	G	T	4: 112,661,891 (GRCm39)	T1231K	possibly damaging	Het
Slf1	A	T	13: 77,214,784 (GRCm39)	M634K	probably benign	Het
Slit2	A	G	5: 48,460,190 (GRCm39)	D1424G	probably benign	Het
Snx21	G	A	2: 164,628,749 (GRCm39)	V131I	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tas1r3	A	G	4: 155,945,848 (GRCm39)	V516A	probably benign	Het
Tas2r120	A	T	6: 132,634,081 (GRCm39)	R54S	probably damaging	Het
Tmem109	A	T	19: 10,849,995 (GRCm39)	L99Q	probably damaging	Het
Tnfrsf1b	A	G	4: 144,946,485 (GRCm39)	S309P	possibly damaging	Het
Trav11	C	T	14: 53,757,227 (GRCm39)	A85V	probably benign	Het
Trp53	G	A	11: 69,480,434 (GRCm39)	R267H	possibly damaging	Het
Ttn	G	A	2: 76,653,314 (GRCm39)	R12631C	possibly damaging	Het
Vmn2r10	T	A	5: 109,143,917 (GRCm39)	T678S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,933 (GRCm39)	M209T	possibly damaging	Het
Vmn2r24	A	T	6: 123,757,500 (GRCm39)	M123L	probably benign	Het
Wdr41	T	G	13: 95,151,575 (GRCm39)	L245R	possibly damaging	Het
Wwp2	G	T	8: 108,283,189 (GRCm39)	G814W	probably null	Het

Other mutations in Slc35b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Slc35b3	APN	13	39,127,116 (GRCm39)	missense	possibly damaging	0.82
IGL02111:Slc35b3	APN	13	39,139,758 (GRCm39)	missense	probably damaging	0.99
R0883:Slc35b3	UTSW	13	39,121,251 (GRCm39)	missense	probably benign	0.09
R1170:Slc35b3	UTSW	13	39,121,307 (GRCm39)	missense	probably benign	0.03
R1440:Slc35b3	UTSW	13	39,138,110 (GRCm39)	nonsense	probably null
R1653:Slc35b3	UTSW	13	39,139,774 (GRCm39)	missense	probably benign	0.02
R1900:Slc35b3	UTSW	13	39,144,587 (GRCm39)	critical splice donor site	probably null
R3874:Slc35b3	UTSW	13	39,127,044 (GRCm39)	missense	possibly damaging	0.66
R3897:Slc35b3	UTSW	13	39,118,739 (GRCm39)	missense	probably benign	0.09
R4399:Slc35b3	UTSW	13	39,121,791 (GRCm39)	missense	possibly damaging	0.95
R4937:Slc35b3	UTSW	13	39,116,887 (GRCm39)	missense	possibly damaging	0.89
R4955:Slc35b3	UTSW	13	39,116,866 (GRCm39)	missense	probably benign	0.08
R5034:Slc35b3	UTSW	13	39,127,134 (GRCm39)	missense	probably damaging	1.00
R5770:Slc35b3	UTSW	13	39,121,734 (GRCm39)	missense	probably damaging	0.98
R6155:Slc35b3	UTSW	13	39,128,572 (GRCm39)	missense	probably damaging	1.00
R6663:Slc35b3	UTSW	13	39,138,112 (GRCm39)	missense	probably damaging	0.99
R7701:Slc35b3	UTSW	13	39,128,611 (GRCm39)	missense	probably benign	0.03
R8534:Slc35b3	UTSW	13	39,128,566 (GRCm39)	missense	probably benign	0.17
R8950:Slc35b3	UTSW	13	39,138,097 (GRCm39)	missense	probably damaging	1.00
R9185:Slc35b3	UTSW	13	39,123,958 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- GCGTCCTGAGTGGCAATAAG -3'
(R):5'- TCGTAGCACAGATTTTGAGTAGG -3'

Sequencing Primer
(F):5'- TGGCAATAAGTCACTGCACAATG -3'
(R):5'- GTTAACTATGCTGTGTGTGCAAACC -3'

Posted On

2021-04-30