Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Slc35d1'

56801

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

038827-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103027846-103072361 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 103070441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138926 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000204816

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,547,572 (GRCm39)	Q161K	probably benign	Het
Aatk	A	T	11: 119,900,748 (GRCm39)	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,321,535 (GRCm39)	F463L	possibly damaging	Het
Antxr2	C	T	5: 98,108,496 (GRCm39)	W338*	probably null	Het
Apc2	T	C	10: 80,140,801 (GRCm39)	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,192,389 (GRCm39)		probably null	Het
Arrdc5	A	G	17: 56,607,020 (GRCm39)	V75A	possibly damaging	Het
Atg16l2	A	T	7: 100,949,317 (GRCm39)		probably null	Het
Cacna1i	A	G	15: 80,265,281 (GRCm39)	N1511S	possibly damaging	Het
Cad	T	C	5: 31,235,032 (GRCm39)	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,035,753 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,801,765 (GRCm39)	D975G	probably damaging	Het
Dagla	T	C	19: 10,232,247 (GRCm39)	I480V	probably damaging	Het
Efl1	C	T	7: 82,301,095 (GRCm39)	T33I	probably damaging	Het
Esp36	A	G	17: 38,728,060 (GRCm39)	F74L	probably benign	Het
Faim	T	C	9: 98,874,149 (GRCm39)		probably benign	Het
Fam83h	G	T	15: 75,875,776 (GRCm39)	H520Q	probably benign	Het
Fbn2	A	T	18: 58,178,446 (GRCm39)	C1931S	probably damaging	Het
Frs3	A	G	17: 48,012,581 (GRCm39)	D96G	probably benign	Het
Gbp4	A	G	5: 105,269,706 (GRCm39)	M374T	probably damaging	Het
Gimap1	C	T	6: 48,718,359 (GRCm39)		probably benign	Het
Gm10010	A	G	6: 128,177,576 (GRCm39)		noncoding transcript	Het
Gm10355	T	C	3: 101,214,214 (GRCm39)		noncoding transcript	Het
Gmip	C	T	8: 70,264,095 (GRCm39)		probably benign	Het
Gpc2	A	T	5: 138,276,796 (GRCm39)	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,468,396 (GRCm39)	V45M	probably benign	Het
Il15	T	C	8: 83,069,890 (GRCm39)	E58G	probably damaging	Het
Kat2b	T	C	17: 53,951,771 (GRCm39)		probably benign	Het
Kcnh7	C	A	2: 62,607,854 (GRCm39)	V576L	probably benign	Het
Lrrc66	T	A	5: 73,772,816 (GRCm39)		probably benign	Het
Mical1	A	G	10: 41,358,235 (GRCm39)	E416G	probably benign	Het
Mroh3	A	G	1: 136,118,740 (GRCm39)	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,699,634 (GRCm39)		probably benign	Het
Naip6	A	T	13: 100,437,036 (GRCm39)	Y496N	probably benign	Het
Nfyc	A	G	4: 120,626,081 (GRCm39)	S73P	probably benign	Het
Or10v9	C	T	19: 11,832,487 (GRCm39)	V277M	probably damaging	Het
Or10v9	A	C	19: 11,832,732 (GRCm39)	V195G	probably damaging	Het
Or1e23	T	A	11: 73,407,750 (GRCm39)	I92F	probably damaging	Het
Or5ak25	A	G	2: 85,268,845 (GRCm39)	I219T	probably benign	Het
Or6c69b	T	A	10: 129,627,101 (GRCm39)	D119V	probably damaging	Het
P2ry14	A	G	3: 59,022,869 (GRCm39)	V206A	probably benign	Het
Polg	G	A	7: 79,109,896 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Ptgs1	G	A	2: 36,130,868 (GRCm39)		probably benign	Het
Pus7l	A	G	15: 94,421,298 (GRCm39)	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,184,112 (GRCm39)	T1547A	probably benign	Het
Rif1	T	C	2: 52,001,600 (GRCm39)	S1685P	probably benign	Het
Rnf213	T	C	11: 119,361,036 (GRCm39)	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,810,670 (GRCm39)	D229G	probably benign	Het
Serpina3j	T	C	12: 104,281,078 (GRCm39)	S84P	possibly damaging	Het
Sorbs2	A	G	8: 46,249,347 (GRCm39)	D847G	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Steap4	T	C	5: 8,027,030 (GRCm39)		probably benign	Het
Tg	A	C	15: 66,589,057 (GRCm39)	T13P	probably damaging	Het
Timeless	T	A	10: 128,080,542 (GRCm39)	Y474*	probably null	Het
Tmem94	T	C	11: 115,682,886 (GRCm39)		probably null	Het
Trdmt1	G	A	2: 13,521,459 (GRCm39)		probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Txnl1	A	G	18: 63,825,135 (GRCm39)		probably benign	Het
Unkl	T	C	17: 25,427,057 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,639,437 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,910,908 (GRCm39)	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,049,648 (GRCm39)	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,466 (GRCm39)	K495E	probably benign	Het
Wrnip1	G	A	13: 33,005,073 (GRCm39)	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,983,563 (GRCm39)	R660G	probably benign	Het
Zfp280c	A	G	X: 47,637,580 (GRCm39)		probably benign	Het
Zfp707	G	A	15: 75,846,978 (GRCm39)	A291T	possibly 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
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
R5395:Slc35d1	UTSW	4	103,068,572 (GRCm39)	critical splice acceptor site	probably null
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'- ACAAATCTTTCTCCGTGGCAGGTTC -3'
(R):5'- TGAGACTCCATGTGATGCCGAAATG -3'

Sequencing Primer
(F):5'- TGATAGTGGAAACGTCCTGG -3'
(R):5'- GTGTCTCAGACTCGTATAGTACC -3'

Posted On

2013-07-11