Mutagenetix > Incidental Mutation

Incidental Mutation 'R8692:Slc35d1'

668419

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

068546-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8692 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103027846-103072361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103047051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 249 (M249T)

Ref Sequence

ENSEMBL: ENSMUSP00000037617 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521
AA Change: M249T

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,327,874 (GRCm39)	I1402S	probably damaging	Het
Abca9	T	C	11: 110,032,409 (GRCm39)	D736G	probably benign	Het
Acy1	T	C	9: 106,310,377 (GRCm39)	E377G	probably damaging	Het
Apob	G	A	12: 8,058,270 (GRCm39)	V2251M	probably damaging	Het
Arhgap23	C	A	11: 97,345,322 (GRCm39)	T657K	probably damaging	Het
Cabin1	T	C	10: 75,587,410 (GRCm39)	K129R	probably benign	Het
Cdh24	A	T	14: 54,875,793 (GRCm39)	F259I	probably benign	Het
Cops6	A	G	5: 138,162,083 (GRCm39)	N307S	probably benign	Het
Cyp4a31	G	A	4: 115,423,769 (GRCm39)	V143M	probably damaging	Het
Deaf1	A	T	7: 140,877,444 (GRCm39)	I561K	probably benign	Het
Dnah7a	A	C	1: 53,472,175 (GRCm39)	S3531A	probably benign	Het
Dnajc14	T	A	10: 128,642,900 (GRCm39)	I274N	probably damaging	Het
Dnmt1	A	G	9: 20,853,077 (GRCm39)	L48S	probably damaging	Het
Efna4	A	T	3: 89,242,549 (GRCm39)	I115N	probably damaging	Het
Ermp1	T	A	19: 29,594,093 (GRCm39)	L692F	probably benign	Het
Fcho2	GT	G	13: 98,882,382 (GRCm39)		probably null	Het
Fcsk	A	T	8: 111,615,722 (GRCm39)	C536S	probably benign	Het
Fermt2	A	T	14: 45,742,099 (GRCm39)	C82*	probably null	Het
Gabra6	G	T	11: 42,210,537 (GRCm39)	D61E	probably damaging	Het
Gdpd4	T	A	7: 97,690,140 (GRCm39)	S611T	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm17430	G	A	18: 9,726,336 (GRCm39)	A112V	probably benign	Het
Gm2381	A	T	7: 42,472,071 (GRCm39)	L2Q	probably damaging	Het
Hif3a	A	T	7: 16,788,701 (GRCm39)	L90Q	probably benign	Het
Irf3	C	T	7: 44,649,889 (GRCm39)	Q168*	probably null	Het
Krt82	T	G	15: 101,456,828 (GRCm39)	D184A	possibly damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lrrc49	A	G	9: 60,594,445 (GRCm39)	S28P	probably damaging	Het
Mfsd11	T	A	11: 116,752,443 (GRCm39)	N197K	probably benign	Het
Mindy1	A	G	3: 95,199,587 (GRCm39)	D243G	probably damaging	Het
Mphosph9	A	T	5: 124,450,875 (GRCm39)	W299R	probably damaging	Het
Mst1r	G	T	9: 107,792,050 (GRCm39)	R862L	possibly damaging	Het
Nasp	T	A	4: 116,469,280 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,414,049 (GRCm39)	I1073T	probably damaging	Het
Nek2	A	T	1: 191,554,745 (GRCm39)	K152N	probably benign	Het
Neurod2	T	C	11: 98,218,960 (GRCm39)	E68G	probably benign	Het
Or1j4	A	T	2: 36,740,096 (GRCm39)	I13F	probably benign	Het
Or2w3b	T	C	11: 58,623,595 (GRCm39)	Y132C	probably damaging	Het
P4ha3	T	A	7: 99,955,228 (GRCm39)	I361N	probably damaging	Het
Pcdh15	T	A	10: 74,289,805 (GRCm39)	S875T	possibly damaging	Het
Pde7b	G	T	10: 20,423,639 (GRCm39)	P79Q	probably benign	Het
Phb2	G	A	6: 124,692,097 (GRCm39)	A228T	probably damaging	Het
Piezo2	A	T	18: 63,225,971 (GRCm39)	C888*	probably null	Het
Pkhd1	A	T	1: 20,462,374 (GRCm39)	L2060Q	probably damaging	Het
Pms1	T	C	1: 53,246,052 (GRCm39)	M496V	probably benign	Het
Ppfibp1	C	T	6: 146,892,013 (GRCm39)	T91I	probably benign	Het
Ppp1r9b	T	C	11: 94,891,077 (GRCm39)	L557P	probably damaging	Het
Ppp2r5c	G	T	12: 110,489,032 (GRCm39)	V68L	probably benign	Het
Qrfp	T	A	2: 31,698,797 (GRCm39)	H45L	probably benign	Het
Rasgrp1	G	A	2: 117,115,353 (GRCm39)	T745I	probably damaging	Het
Rnf144a	G	A	12: 26,370,972 (GRCm39)	T163I	probably benign	Het
Sbsn	A	T	7: 30,451,522 (GRCm39)	H179L	unknown	Het
Simc1	G	A	13: 54,673,193 (GRCm39)	V514I	probably benign	Het
Slfn4	T	A	11: 83,079,709 (GRCm39)	H466Q	possibly damaging	Het
Stab2	A	T	10: 86,808,794 (GRCm39)	C172S	probably damaging	Het
Tanc1	T	C	2: 59,673,989 (GRCm39)	I1698T	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tiam2	A	C	17: 3,479,082 (GRCm39)	D605A	probably damaging	Het
Tmed4	A	T	11: 6,223,822 (GRCm39)	D151E	probably benign	Het
Trim62	A	T	4: 128,794,465 (GRCm39)	I211F	possibly damaging	Het
Ttpa	A	G	4: 20,008,585 (GRCm39)	D49G	probably benign	Het
Usf3	T	C	16: 44,040,103 (GRCm39)	S1528P	probably benign	Het
Usp34	C	T	11: 23,379,325 (GRCm39)	T1991I		Het
Vash1	G	A	12: 86,735,863 (GRCm39)	V250M	possibly damaging	Het
Vmn1r199	T	C	13: 22,567,809 (GRCm39)	*368Q	probably null	Het
Vmn1r74	A	G	7: 11,580,972 (GRCm39)	T91A	probably benign	Het
Vmn1r8	T	C	6: 57,013,557 (GRCm39)	F203L	probably benign	Het
Vmn2r13	G	T	5: 109,319,514 (GRCm39)	Q489K	probably benign	Het
Vmn2r-ps158	G	T	7: 42,697,108 (GRCm39)	A722S	probably benign	Het
Zfp385b	A	T	2: 77,549,971 (GRCm39)	V38E	probably damaging	Het
Zfp820	A	G	17: 22,037,876 (GRCm39)	I484T	probably benign	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
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
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'- ACTCACACCATCAGACTGGG -3'
(R):5'- CCCCTAGTCAGAAAAGAGATGCATG -3'

Sequencing Primer
(F):5'- AGGCAGCATGCTTACCAG -3'
(R):5'- GTCAGAAAAGAGATGCATGTTTCTC -3'

Posted On

2021-04-30