Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Slc35d1'

426107

Institutional Source

Beutler Lab

Gene Symbol

Slc35d1

Ensembl Gene

ENSMUSG00000028521

Gene Name

solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1

Synonyms

UGTREL7

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103027846-103072361 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 103068572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036195] [ENSMUST00000036195] [ENSMUST00000150285] [ENSMUST00000150285] [ENSMUST00000183432] [ENSMUST00000183432]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000036195

SMART Domains

Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521

Domain	Start	End	E-Value	Type
Pfam:TPT	18	307	6.4e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000036195

SMART Domains

Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521

Domain	Start	End	E-Value	Type
Pfam:TPT	18	307	6.4e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000094947

SMART Domains

Protein: ENSMUSP00000092554
Gene: ENSMUSG00000028521

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	58	N/A	INTRINSIC
transmembrane domain	107	124	N/A	INTRINSIC
transmembrane domain	128	147	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000150285

SMART Domains

Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	69	88	N/A	INTRINSIC
transmembrane domain	158	177	N/A	INTRINSIC
transmembrane domain	187	205	N/A	INTRINSIC
transmembrane domain	217	239	N/A	INTRINSIC
transmembrane domain	259	281	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000150285

SMART Domains

Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	69	88	N/A	INTRINSIC
transmembrane domain	158	177	N/A	INTRINSIC
transmembrane domain	187	205	N/A	INTRINSIC
transmembrane domain	217	239	N/A	INTRINSIC
transmembrane domain	259	281	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154845

Predicted Effect

probably benign
Transcript: ENSMUST00000183432

SMART Domains

Protein: ENSMUSP00000138926
Gene: ENSMUSG00000028521

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	50	69	N/A	INTRINSIC
transmembrane domain	111	133	N/A	INTRINSIC
transmembrane domain	138	157	N/A	INTRINSIC
transmembrane domain	167	184	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183432

SMART Domains

Protein: ENSMUSP00000138926
Gene: ENSMUSG00000028521

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	50	69	N/A	INTRINSIC
transmembrane domain	111	133	N/A	INTRINSIC
transmembrane domain	138	157	N/A	INTRINSIC
transmembrane domain	167	184	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality and chondrodystrophy associated with impaired chondroitin sulfate biosynthesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,874,590 (GRCm39)	I268V	probably benign	Het
Actn1	T	A	12: 80,217,477 (GRCm39)	I782F	probably benign	Het
Adamdec1	A	C	14: 68,808,352 (GRCm39)	S333A	probably benign	Het
Agbl5	C	A	5: 31,047,682 (GRCm39)	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,550,993 (GRCm39)		noncoding transcript	Het
Arhgef10l	T	C	4: 140,297,601 (GRCm39)	N277S	probably benign	Het
Ascc2	A	G	11: 4,609,273 (GRCm39)	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,239,706 (GRCm39)	Y835*	probably null	Het
Atp13a4	A	G	16: 29,275,422 (GRCm39)	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,716,075 (GRCm39)	S426P	probably damaging	Het
Birc2	T	C	9: 7,861,175 (GRCm39)	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,248,379 (GRCm39)	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,417,257 (GRCm39)	M91T	possibly damaging	Het
Clk3	G	A	9: 57,660,622 (GRCm39)	T473M	probably damaging	Het
Cog2	T	A	8: 125,271,960 (GRCm39)	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,888,827 (GRCm39)	T202I	probably benign	Het
Dennd1a	A	T	2: 37,692,140 (GRCm39)	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,426,287 (GRCm39)	A170D	possibly damaging	Het
Fev	T	C	1: 74,921,823 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,883,881 (GRCm38)	N369S	probably benign	Het
Flt3	A	G	5: 147,291,633 (GRCm39)	F606L	probably damaging	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Gdnf	T	A	15: 7,864,165 (GRCm39)	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,068,315 (GRCm39)	C56S	possibly damaging	Het
Gli3	T	C	13: 15,889,535 (GRCm39)	F550L	probably damaging	Het
Gm1110	T	C	9: 26,800,928 (GRCm39)	E422G	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,526,788 (GRCm39)	S334P	probably damaging	Het
Icam2	A	T	11: 106,273,299 (GRCm39)		probably null	Het
Inca1	C	T	11: 70,581,264 (GRCm39)		probably null	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Lrp1	T	C	10: 127,431,166 (GRCm39)	D332G	probably damaging	Het
Ly75	A	T	2: 60,195,455 (GRCm39)	N234K	probably benign	Het
Mcm5	G	A	8: 75,849,654 (GRCm39)	S542N	probably benign	Het
Mcm9	A	T	10: 53,414,788 (GRCm39)	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,638,232 (GRCm39)	R986H	possibly damaging	Het
Neu2	T	A	1: 87,524,397 (GRCm39)		probably null	Het
Nfatc1	G	A	18: 80,679,235 (GRCm39)	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392 (GRCm39)		probably benign	Het
Or10j7	A	T	1: 173,011,247 (GRCm39)	Y251*	probably null	Het
Otogl	T	C	10: 107,652,999 (GRCm39)	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,021,119 (GRCm39)	I111K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Piwil2	G	T	14: 70,632,846 (GRCm39)	N575K	probably benign	Het
Pou4f2	T	A	8: 79,161,701 (GRCm39)	I301F	probably damaging	Het
Prkd1	T	C	12: 50,438,215 (GRCm39)	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,681,376 (GRCm39)	K86T	probably damaging	Het
Raly	T	A	2: 154,705,927 (GRCm39)		probably null	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sdr16c5	T	C	4: 4,016,277 (GRCm39)	S50G	probably benign	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Slc20a1	A	T	2: 129,050,257 (GRCm39)	N472Y	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,970,734 (GRCm39)	G306*	probably null	Het
Slc9a8	T	A	2: 167,309,642 (GRCm39)	F335L	probably damaging	Het
Smyd1	T	G	6: 71,196,374 (GRCm39)	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,183 (GRCm39)	V187E	probably damaging	Het
Spag9	T	G	11: 93,982,577 (GRCm39)		probably null	Het
Tnfsf9	C	A	17: 57,412,592 (GRCm39)	T54K	probably benign	Het
Trim24	T	G	6: 37,934,679 (GRCm39)	V798G	probably damaging	Het
Tyr	C	A	7: 87,121,698 (GRCm39)	A365S	probably damaging	Het
Usp43	T	A	11: 67,788,184 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,385,874 (GRCm39)	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,400,105 (GRCm39)	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,583,164 (GRCm39)	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,656,702 (GRCm39)	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,931,965 (GRCm39)	C21*	probably null	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,449,039 (GRCm39)	V275D	probably damaging	Het

Other mutations in Slc35d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Slc35d1	APN	4	103,068,522 (GRCm39)	missense	probably benign	0.00
IGL03198:Slc35d1	APN	4	103,042,085 (GRCm39)	missense	probably damaging	1.00
R0131:Slc35d1	UTSW	4	103,065,378 (GRCm39)	missense	probably benign	0.01
R0131:Slc35d1	UTSW	4	103,065,378 (GRCm39)	missense	probably benign	0.01
R0132:Slc35d1	UTSW	4	103,065,378 (GRCm39)	missense	probably benign	0.01
R0206:Slc35d1	UTSW	4	103,065,351 (GRCm39)	missense	probably damaging	1.00
R0206:Slc35d1	UTSW	4	103,065,351 (GRCm39)	missense	probably damaging	1.00
R0208:Slc35d1	UTSW	4	103,065,351 (GRCm39)	missense	probably damaging	1.00
R0270:Slc35d1	UTSW	4	103,048,035 (GRCm39)	missense	probably damaging	0.98
R0346:Slc35d1	UTSW	4	103,048,044 (GRCm39)	missense	probably damaging	0.96
R0388:Slc35d1	UTSW	4	103,042,084 (GRCm39)	nonsense	probably null
R0638:Slc35d1	UTSW	4	103,070,441 (GRCm39)	splice site	probably benign
R2146:Slc35d1	UTSW	4	103,062,349 (GRCm39)	missense	probably damaging	0.99
R3722:Slc35d1	UTSW	4	103,065,321 (GRCm39)	missense	possibly damaging	0.93
R4649:Slc35d1	UTSW	4	103,070,426 (GRCm39)	missense	probably damaging	1.00
R5137:Slc35d1	UTSW	4	103,071,978 (GRCm39)	missense	possibly damaging	0.71
R5327:Slc35d1	UTSW	4	103,070,383 (GRCm39)	missense	probably damaging	1.00
R5351:Slc35d1	UTSW	4	103,047,036 (GRCm39)	missense	probably damaging	1.00
R6263:Slc35d1	UTSW	4	103,065,365 (GRCm39)	missense	possibly damaging	0.93
R6470:Slc35d1	UTSW	4	103,047,019 (GRCm39)	missense	probably damaging	1.00
R7344:Slc35d1	UTSW	4	103,070,243 (GRCm39)	splice site	probably null
R7388:Slc35d1	UTSW	4	103,046,982 (GRCm39)	critical splice donor site	probably null
R7580:Slc35d1	UTSW	4	103,065,330 (GRCm39)	missense
R7729:Slc35d1	UTSW	4	103,072,044 (GRCm39)	missense	probably damaging	0.99
R7942:Slc35d1	UTSW	4	103,070,360 (GRCm39)	critical splice donor site	probably null
R8408:Slc35d1	UTSW	4	103,047,007 (GRCm39)	missense
R8444:Slc35d1	UTSW	4	103,071,896 (GRCm39)	missense
R8692:Slc35d1	UTSW	4	103,047,051 (GRCm39)	missense
R8730:Slc35d1	UTSW	4	103,030,951 (GRCm39)	missense
R8868:Slc35d1	UTSW	4	103,065,351 (GRCm39)	missense	probably damaging	1.00
R8894:Slc35d1	UTSW	4	103,068,529 (GRCm39)	missense
R9251:Slc35d1	UTSW	4	103,048,027 (GRCm39)	critical splice donor site	probably null
R9357:Slc35d1	UTSW	4	103,065,333 (GRCm39)	missense
R9789:Slc35d1	UTSW	4	103,071,946 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCAACTAGCCTGCTTAAACTTTCC -3'
(R):5'- ACTAATGTAGCTGTGGTCAGGG -3'

Sequencing Primer
(F):5'- CTGCGTGTAAAACCTCAGCTATGG -3'
(R):5'- GGTCAGGGTATTTGCATAATTATCAG -3'

Posted On

2016-08-04