Mutagenetix > Incidental Mutation

Incidental Mutation 'R5929:Slc35b2'

460123

Institutional Source

Beutler Lab

Gene Symbol

Slc35b2

Ensembl Gene

ENSMUSG00000037089

Gene Name

solute carrier family 35, member B2

Synonyms

PAPST1, 1110003M08Rik

MMRRC Submission

044124-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

R5929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45874844-45878597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45877587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 238 (W238L)

Ref Sequence

ENSEMBL: ENSMUSP00000153367 (fasta)

Gene Model

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

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: W189L

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089
AA Change: W189L

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: ENSMUST00000223987
AA Change: W189L

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000224905
AA Change: W238L

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

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

noncoding transcript
Transcript: ENSMUST00000225226

Predicted Effect

probably benign
Transcript: ENSMUST00000224341

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: ENSMUST00000226086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224559

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

Meta Mutation Damage Score

0.2079

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

99% (84/85)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	C	T	14: 52,001,708 (GRCm39)	C80Y	probably damaging	Het
Ankib1	T	C	5: 3,819,633 (GRCm39)	I95M	possibly damaging	Het
Ankrd1	T	C	19: 36,095,277 (GRCm39)	E137G	possibly damaging	Het
Car6	T	C	4: 150,280,592 (GRCm39)	H84R	probably damaging	Het
Casd1	T	A	6: 4,629,993 (GRCm39)	L463Q	probably damaging	Het
Casz1	T	A	4: 149,023,426 (GRCm39)	L491Q	probably damaging	Het
Casz1	C	T	4: 149,023,153 (GRCm39)	S400L	probably damaging	Het
Catsperd	A	T	17: 56,959,493 (GRCm39)	H311L	probably benign	Het
Ccdc83	A	G	7: 89,885,524 (GRCm39)		probably benign	Het
Cd163	G	A	6: 124,303,568 (GRCm39)		probably null	Het
Cd244a	A	T	1: 171,386,935 (GRCm39)	R15W	probably damaging	Het
Ces3b	A	G	8: 105,819,797 (GRCm39)	K490R	probably damaging	Het
Chordc1	T	C	9: 18,215,658 (GRCm39)	S137P	possibly damaging	Het
Col4a1	T	A	8: 11,266,788 (GRCm39)	T1140S	probably benign	Het
Col6a4	T	C	9: 105,940,243 (GRCm39)	E1229G	probably benign	Het
Cr2	A	G	1: 194,853,419 (GRCm39)	S20P	possibly damaging	Het
Dcaf13	T	A	15: 39,007,048 (GRCm39)	H327Q	possibly damaging	Het
Depdc5	G	T	5: 33,132,850 (GRCm39)	E646*	probably null	Het
Dnah5	G	A	15: 28,311,353 (GRCm39)	M1777I	probably benign	Het
Dnah5	G	T	15: 28,311,354 (GRCm39)	A1778S	probably damaging	Het
Dnajc5b	T	C	3: 19,601,019 (GRCm39)	Y39H	probably damaging	Het
Dsp	A	T	13: 38,379,410 (GRCm39)	I1453F	possibly damaging	Het
Fyn	T	A	10: 39,427,457 (GRCm39)	W447R	probably damaging	Het
Gabra6	T	A	11: 42,208,389 (GRCm39)	M148L	probably damaging	Het
Gcfc2	T	A	6: 81,923,580 (GRCm39)	V32D	probably damaging	Het
Ginm1	G	T	10: 7,649,814 (GRCm39)	L160I	probably benign	Het
Gm19345	A	G	7: 19,591,747 (GRCm39)	Y221H	probably damaging	Het
Gpr155	G	A	2: 73,204,011 (GRCm39)	R268*	probably null	Het
Hacl1	T	A	14: 31,338,345 (GRCm39)	M411L	probably benign	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,453,047 (GRCm39)	E5423*	probably null	Het
Ipo4	T	C	14: 55,868,646 (GRCm39)	H454R	probably benign	Het
Itpr1	A	T	6: 108,400,297 (GRCm39)	I1693F	probably benign	Het
Kif12	T	C	4: 63,086,754 (GRCm39)	T361A	probably damaging	Het
Kif21b	A	G	1: 136,078,945 (GRCm39)	E431G	probably damaging	Het
Kif27	C	T	13: 58,491,784 (GRCm39)	A452T	probably benign	Het
Kifbp	A	T	10: 62,395,181 (GRCm39)	I487N	probably damaging	Het
Lhcgr	A	T	17: 89,050,436 (GRCm39)	Y363*	probably null	Het
Lrrc8d	A	T	5: 105,960,472 (GRCm39)	K294I	probably damaging	Het
Mapk3	A	C	7: 126,359,030 (GRCm39)		probably benign	Het
Mogat1	A	T	1: 78,500,370 (GRCm39)	I145F	probably benign	Het
Mtmr7	T	C	8: 41,011,399 (GRCm39)		probably null	Het
Ndufaf6	T	C	4: 11,051,150 (GRCm39)	N317D	probably benign	Het
Nfe2l1	G	T	11: 96,718,185 (GRCm39)	Q117K	probably damaging	Het
Odad3	T	C	9: 21,913,718 (GRCm39)	E18G	possibly damaging	Het
Olfm3	T	G	3: 114,895,529 (GRCm39)	I137S	probably damaging	Het
Or4f7d-ps1	T	A	2: 111,674,631 (GRCm39)		noncoding transcript	Het
Otub1	G	A	19: 7,177,350 (GRCm39)	S99F	probably damaging	Het
Padi2	T	G	4: 140,671,848 (GRCm39)		probably null	Het
Paip1	C	T	13: 119,582,326 (GRCm39)	T268I	probably damaging	Het
Pak1ip1	T	C	13: 41,158,276 (GRCm39)	S50P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phkb	A	G	8: 86,697,543 (GRCm39)	I451V	probably benign	Het
Plcg1	T	A	2: 160,595,522 (GRCm39)		probably null	Het
Prg4	A	G	1: 150,329,880 (GRCm39)	F722S	probably benign	Het
Prss3	T	C	6: 41,353,738 (GRCm39)		probably null	Het
Psmd3	C	T	11: 98,586,422 (GRCm39)	P530L	probably damaging	Het
Rims1	A	T	1: 22,507,322 (GRCm39)	D609E	probably damaging	Het
Sema3f	T	C	9: 107,569,392 (GRCm39)	Y82C	probably damaging	Het
Shoc1	G	T	4: 59,092,497 (GRCm39)	S228*	probably null	Het
Sox12	T	C	2: 152,239,308 (GRCm39)	Y104C	probably damaging	Het
Stx5a	T	G	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Tlr7	C	A	X: 166,089,878 (GRCm39)	G536V	probably damaging	Het
Tspan12	A	G	6: 21,772,746 (GRCm39)	S220P	possibly damaging	Het
Utp11	T	C	4: 124,576,036 (GRCm39)	T173A	probably damaging	Het
Wrnip1	G	C	13: 32,990,949 (GRCm39)	D403H	probably damaging	Het
Xpnpep1	T	C	19: 53,001,920 (GRCm39)	T109A	probably damaging	Het
Zfp354b	A	T	11: 50,813,282 (GRCm39)	F548I	probably damaging	Het
Zup1	A	T	10: 33,825,043 (GRCm39)	Y146*	probably null	Het

Other mutations in Slc35b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Slc35b2	APN	17	45,875,886 (GRCm39)	missense	probably damaging	0.99
IGL02749:Slc35b2	APN	17	45,877,493 (GRCm39)	missense	probably benign	0.14
IGL02951:Slc35b2	APN	17	45,875,694 (GRCm39)	missense	probably damaging	1.00
IGL03382:Slc35b2	APN	17	45,877,571 (GRCm39)	missense	probably damaging	0.98
R0020:Slc35b2	UTSW	17	45,877,782 (GRCm39)	missense	probably damaging	1.00
R0368:Slc35b2	UTSW	17	45,877,389 (GRCm39)	missense	probably benign
R0743:Slc35b2	UTSW	17	45,877,751 (GRCm39)	missense	probably damaging	1.00
R0884:Slc35b2	UTSW	17	45,877,751 (GRCm39)	missense	probably damaging	1.00
R2293:Slc35b2	UTSW	17	45,878,067 (GRCm39)	missense	probably damaging	1.00
R3894:Slc35b2	UTSW	17	45,877,368 (GRCm39)	missense	probably benign	0.01
R4372:Slc35b2	UTSW	17	45,877,355 (GRCm39)	missense	probably benign	0.34
R4415:Slc35b2	UTSW	17	45,877,355 (GRCm39)	missense	probably benign	0.34
R4416:Slc35b2	UTSW	17	45,877,355 (GRCm39)	missense	probably benign	0.34
R4417:Slc35b2	UTSW	17	45,877,355 (GRCm39)	missense	probably benign	0.34
R5291:Slc35b2	UTSW	17	45,877,424 (GRCm39)	missense	probably damaging	1.00
R5314:Slc35b2	UTSW	17	45,877,424 (GRCm39)	missense	probably damaging	1.00
R6178:Slc35b2	UTSW	17	45,877,302 (GRCm39)	missense	probably benign	0.10
R7217:Slc35b2	UTSW	17	45,875,955 (GRCm39)	missense	probably benign	0.19
R7561:Slc35b2	UTSW	17	45,877,727 (GRCm39)	missense	probably damaging	1.00
R8823:Slc35b2	UTSW	17	45,877,894 (GRCm39)	missense	probably damaging	1.00
R8956:Slc35b2	UTSW	17	45,877,673 (GRCm39)	missense	probably damaging	0.98
R9401:Slc35b2	UTSW	17	45,877,910 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTACTGTGTCCTGCGCAAG -3'
(R):5'- CATCTGCACCGATGACATCTTATAG -3'

Sequencing Primer
(F):5'- AAGCAGCCCCGTCATGGTG -3'
(R):5'- TCTTATAGGCAAACAGGGCATC -3'

Posted On

2017-02-28