Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:Slc35b2'

326856

Institutional Source

Beutler Lab

Gene Symbol

Slc35b2

Ensembl Gene

ENSMUSG00000037089

Gene Name

solute carrier family 35, member B2

Synonyms

PAPST1, 1110003M08Rik

MMRRC Submission

041137-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.420) question?

Stock #

R4416 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

45563874-45567671 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45566429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 161 (V161M)

Ref Sequence

ENSEMBL: ENSMUSP00000153367 (fasta)

Gene Model

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

AlphaFold

Q91ZN5

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 benign
Transcript: ENSMUST00000041353
AA Change: V112M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089
AA Change: V112M

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

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 benign
Transcript: ENSMUST00000223987
AA Change: V112M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000224341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224559

Predicted Effect

probably benign
Transcript: ENSMUST00000224905
AA Change: V161M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000226086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225226

Meta Mutation Damage Score

0.1078

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
4933412E24Rik	T	A	15: 60,016,423	E56V	possibly damaging	Het
Adam28	A	G	14: 68,622,082		probably null	Het
Bnc1	G	T	7: 81,968,960	H786N	probably benign	Het
Cav1	T	A	6: 17,339,249	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194	S318P	possibly damaging	Het
Fam160b1	G	T	19: 57,385,397		probably null	Het
Fbxl6	T	C	15: 76,537,724	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461	V140L	probably benign	Het
Grpel1	A	G	5: 36,471,272	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,575,590		probably null	Het
Hivep2	A	T	10: 14,129,170	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726	Y291*	probably null	Het
Nudt6	A	T	3: 37,405,229		probably null	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011	T240I	probably benign	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Olfr974	A	G	9: 39,942,428	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530	V784A	probably damaging	Het
Polr3e	T	C	7: 120,939,057		probably null	Het
Rab3gap2	A	T	1: 185,282,347	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057	G1481*	probably null	Het
Rho	G	A	6: 115,935,230	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801	D96G	probably benign	Het
Srp9	A	T	1: 182,131,411	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874	I342T	probably damaging	Het
Veph1	A	T	3: 66,061,185	N712K	probably damaging	Het
Vti1a	T	G	19: 55,380,948	S91A	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
IGL03382:Slc35b2	APN	17	45566645	missense	probably damaging	0.98
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
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
R8823:Slc35b2	UTSW	17	45566968	missense	probably damaging	1.00
R8956:Slc35b2	UTSW	17	45566747	missense	probably damaging	0.98
R9401:Slc35b2	UTSW	17	45566984	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTACCAACTCTGAGGAAGTAGG -3'
(R):5'- CCATCATCATGACAGGGATCAC -3'

Sequencing Primer
(F):5'- CTCTGAGGAAGTAGGAAACAGACTTC -3'
(R):5'- ATCACCTTGGAGGCCTTCG -3'

Posted On

2015-07-07