Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03382:Slc35b2'

420745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35b2

Ensembl Gene

ENSMUSG00000037089

Gene Name

solute carrier family 35, member B2

Synonyms

PAPST1, 1110003M08Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

IGL03382

Quality Score

Status

Chromosome

Chromosomal Location

45563874-45567671 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45566645 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 233 (R233C)

Ref Sequence

ENSEMBL: ENSMUSP00000153367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000024742] [ENSMUST00000041353] [ENSMUST00000130406] [ENSMUST00000163966] [ENSMUST00000165127] [ENSMUST00000166469] [ENSMUST00000223987] [ENSMUST00000224905] [ENSMUST00000226086]

Predicted Effect

probably benign
Transcript: ENSMUST00000024739

SMART Domains

Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
HATPase_c	35	189	3.82e-10	SMART
Pfam:HSP90	191	719	5.4e-246	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000024742

SMART Domains

Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
low complexity region	93	110	N/A	INTRINSIC
ANK	122	152	1.14e2	SMART
ANK	157	187	2.15e0	SMART
ANK	190	219	6.81e-3	SMART
ANK	233	262	5.09e-2	SMART
ANK	267	296	1.12e-3	SMART
ANK	300	329	1e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000041353
AA Change: R184C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089
AA Change: R184C

Domain	Start	End	E-Value	Type
Pfam:UAA	62	363	5.1e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130406

SMART Domains

Protein: ENSMUSP00000119678
Gene: ENSMUSG00000023944

Domain	Start	End	E-Value	Type
SCOP:d1byqa_	9	76	2e-32	SMART
PDB:1UYM\|A	14	76	7e-38	PDB
Blast:HATPase_c	35	76	3e-21	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151306

Predicted Effect

probably benign
Transcript: ENSMUST00000163966

SMART Domains

Protein: ENSMUSP00000131601
Gene: ENSMUSG00000023944

Domain	Start	End	E-Value	Type
SCOP:d1byqa_	9	85	9e-40	SMART
PDB:1UYM\|A	14	85	3e-45	PDB
Blast:HATPase_c	35	85	9e-29	BLAST
low complexity region	93	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165127

SMART Domains

Protein: ENSMUSP00000126239
Gene: ENSMUSG00000023944

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
Pfam:HSP90	37	161	3.8e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166469

SMART Domains

Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944

Domain	Start	End	E-Value	Type
Pfam:HSP90	4	189	1.3e-92	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000223987
AA Change: R184C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000224341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224559

Predicted Effect

probably damaging
Transcript: ENSMUST00000224905
AA Change: R233C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225226

Predicted Effect

probably benign
Transcript: ENSMUST00000226086

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	C	T	19: 29,717,276	G1606R	probably damaging	Het
Aff1	A	G	5: 103,841,060	D831G	possibly damaging	Het
Amer2	A	G	14: 60,379,882	K509E	possibly damaging	Het
Ankrd6	T	C	4: 32,808,771	K449E	probably damaging	Het
Atp8b2	G	A	3: 89,948,521	P459L	probably benign	Het
Atr	C	T	9: 95,920,822	R1846*	probably null	Het
Ccdc159	C	A	9: 21,931,696		probably null	Het
Ccna1	A	C	3: 55,047,277	Y338D	probably damaging	Het
Cpq	A	T	15: 33,212,943	E36V	probably damaging	Het
Cyp2c23	A	G	19: 44,014,932	I268T	probably damaging	Het
Dctn2	G	T	10: 127,278,188	Q332H	probably damaging	Het
Dnah17	T	A	11: 118,081,943	I2055F	probably damaging	Het
Dnmt3b	A	G	2: 153,686,359	H764R	probably damaging	Het
Gphn	T	A	12: 78,481,313	I135K	probably damaging	Het
Hnrnpul1	A	G	7: 25,750,984	M1T	probably null	Het
Htra4	T	C	8: 25,029,698	D406G	probably benign	Het
Klk10	G	T	7: 43,784,459		probably benign	Het
Lilrb4a	T	A	10: 51,491,520	W53R	probably benign	Het
Magel2	T	C	7: 62,378,713	V455A	probably benign	Het
Mrgprb5	T	C	7: 48,168,694	T98A	probably benign	Het
Mrps35	T	A	6: 147,049,875	C76*	probably null	Het
Myh7b	C	T	2: 155,623,479	R701C	probably damaging	Het
Nbeal1	G	A	1: 60,261,586		probably null	Het
Neb	T	A	2: 52,325,708	M196L	probably benign	Het
Nmd3	A	G	3: 69,735,088	K207R	probably damaging	Het
Plxna4	C	T	6: 32,202,194	R962Q	probably benign	Het
Pom121	T	C	5: 135,392,407	K230E	unknown	Het
Psme4	A	G	11: 30,807,788	D307G	possibly damaging	Het
Rnf41	T	G	10: 128,438,280	M267R	possibly damaging	Het
Sis	T	C	3: 72,928,719	N846D	probably benign	Het
Slc22a19	T	A	19: 7,681,862	I463L	probably benign	Het
Slc25a39	A	T	11: 102,406,204		probably null	Het
Slc4a4	T	C	5: 89,228,836	L983P	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Tbc1d10a	A	G	11: 4,209,984	Y123C	probably damaging	Het
Thbs4	A	C	13: 92,769,548	I395S	probably benign	Het
Triml2	A	G	8: 43,193,739	T422A	probably benign	Het
Ubn2	T	C	6: 38,440,447		probably benign	Het
Vmn1r15	T	A	6: 57,258,570	M141K	probably benign	Het
Vmn2r80	A	G	10: 79,169,528	E333G	probably damaging	Het
Zfp169	T	C	13: 48,491,163		probably benign	Het
Zfp942	G	A	17: 21,929,102	P182L	probably benign	Het

Other mutations in Slc35b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Slc35b2	APN	17	45564960	missense	probably damaging	0.99
IGL02749:Slc35b2	APN	17	45566567	missense	probably benign	0.14
IGL02951:Slc35b2	APN	17	45564768	missense	probably damaging	1.00
R0020:Slc35b2	UTSW	17	45566856	missense	probably damaging	1.00
R0368:Slc35b2	UTSW	17	45566463	missense	probably benign
R0743:Slc35b2	UTSW	17	45566825	missense	probably damaging	1.00
R0884:Slc35b2	UTSW	17	45566825	missense	probably damaging	1.00
R2293:Slc35b2	UTSW	17	45567141	missense	probably damaging	1.00
R3894:Slc35b2	UTSW	17	45566442	missense	probably benign	0.01
R4372:Slc35b2	UTSW	17	45566429	missense	probably benign	0.34
R4415:Slc35b2	UTSW	17	45566429	missense	probably benign	0.34
R4416:Slc35b2	UTSW	17	45566429	missense	probably benign	0.34
R4417:Slc35b2	UTSW	17	45566429	missense	probably benign	0.34
R5291:Slc35b2	UTSW	17	45566498	missense	probably damaging	1.00
R5314:Slc35b2	UTSW	17	45566498	missense	probably damaging	1.00
R5929:Slc35b2	UTSW	17	45566661	missense	probably benign	0.35
R6178:Slc35b2	UTSW	17	45566376	missense	probably benign	0.10
R7217:Slc35b2	UTSW	17	45565029	missense	probably benign	0.19
R7561:Slc35b2	UTSW	17	45566801	missense	probably damaging	1.00

Posted On

2016-08-02