Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02088:Slc35d1'

279328

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35d1

Ensembl Gene

ENSMUSG00000028521

Gene Name

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

Synonyms

UGTREL7

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02088

Quality Score

Status

Chromosome

Chromosomal Location

103170649-103215164 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103211325 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 148 (F148L)

Ref Sequence

ENSEMBL: ENSMUSP00000122124 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036195
AA Change: F127L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521
AA Change: F127L

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
AA Change: F148L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521
AA Change: F148L

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
AA Change: F127L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138926
Gene: ENSMUSG00000028521
AA Change: F127L

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	C	9: 104,098,881	E289G	probably damaging	Het
Aldh1l1	A	T	6: 90,580,590		probably benign	Het
Ampd3	T	A	7: 110,793,686	D220E	probably benign	Het
Ank3	T	C	10: 69,999,373	V136A	probably damaging	Het
Atg14	T	C	14: 47,542,859	K486R	probably benign	Het
Axin1	A	G	17: 26,188,695	I637V	probably benign	Het
Axin2	T	A	11: 108,923,616	F110Y	probably damaging	Het
Cdh12	A	T	15: 21,480,339	K214*	probably null	Het
Cfap44	A	C	16: 44,451,628	E1248A	possibly damaging	Het
Cryba4	A	G	5: 112,251,009		probably benign	Het
Cyp2c68	A	G	19: 39,703,521		probably benign	Het
Dnah5	G	T	15: 28,459,118		probably null	Het
Dok3	A	T	13: 55,524,370	V165E	probably damaging	Het
Etl4	A	T	2: 20,806,548	R1147S	probably damaging	Het
Fam212a	A	G	9: 107,984,457	F220S	probably damaging	Het
Fbxl6	G	T	15: 76,535,906	C502*	probably null	Het
Gp2	A	T	7: 119,454,469	Y90N	probably damaging	Het
H1fnt	G	T	15: 98,257,178	T30K	probably damaging	Het
Itfg2	A	G	6: 128,411,606	V306A	probably benign	Het
Lrig2	T	C	3: 104,467,108	Y219C	probably damaging	Het
Mccc1	A	T	3: 35,974,202	I485N	probably damaging	Het
Mettl25	A	G	10: 105,823,250	F391L	probably damaging	Het
Muc19	C	T	15: 91,891,168		noncoding transcript	Het
Muc2	T	C	7: 141,751,504	C182R	probably damaging	Het
Nlrp4g	T	C	9: 124,350,453		noncoding transcript	Het
Nms	A	G	1: 38,939,277		probably benign	Het
Nr3c1	T	C	18: 39,424,391	N503S	probably damaging	Het
Olfr1495	T	C	19: 13,768,666	F108S	probably damaging	Het
Olfr186	A	G	16: 59,027,052	L285P	probably damaging	Het
Olfr828	C	T	9: 18,815,923	V124I	probably benign	Het
Pcdhb5	G	A	18: 37,321,959	S464N	probably benign	Het
Pcgf6	T	C	19: 47,050,804	T6A	unknown	Het
Rdx	A	G	9: 52,060,883		probably benign	Het
Shmt1	T	C	11: 60,789,653	T403A	probably damaging	Het
Tk1	A	G	11: 117,824,665		probably benign	Het
Tnks	T	A	8: 34,839,994	I1134F	possibly damaging	Het
Ttn	A	G	2: 76,726,691	V29990A	probably damaging	Het
Zcchc11	A	G	4: 108,512,218		probably benign	Het

Other mutations in Slc35d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03198:Slc35d1	APN	4	103184888	missense	probably damaging	1.00
R0131:Slc35d1	UTSW	4	103208181	missense	probably benign	0.01
R0131:Slc35d1	UTSW	4	103208181	missense	probably benign	0.01
R0132:Slc35d1	UTSW	4	103208181	missense	probably benign	0.01
R0206:Slc35d1	UTSW	4	103208154	missense	probably damaging	1.00
R0206:Slc35d1	UTSW	4	103208154	missense	probably damaging	1.00
R0208:Slc35d1	UTSW	4	103208154	missense	probably damaging	1.00
R0270:Slc35d1	UTSW	4	103190838	missense	probably damaging	0.98
R0346:Slc35d1	UTSW	4	103190847	missense	probably damaging	0.96
R0388:Slc35d1	UTSW	4	103184887	nonsense	probably null
R0638:Slc35d1	UTSW	4	103213244	splice site	probably benign
R2146:Slc35d1	UTSW	4	103205152	missense	probably damaging	0.99
R3722:Slc35d1	UTSW	4	103208124	missense	possibly damaging	0.93
R4649:Slc35d1	UTSW	4	103213229	missense	probably damaging	1.00
R5137:Slc35d1	UTSW	4	103214781	missense	possibly damaging	0.71
R5327:Slc35d1	UTSW	4	103213186	missense	probably damaging	1.00
R5351:Slc35d1	UTSW	4	103189839	missense	probably damaging	1.00
R5395:Slc35d1	UTSW	4	103211375	critical splice acceptor site	probably null
R6263:Slc35d1	UTSW	4	103208168	missense	possibly damaging	0.93
R6470:Slc35d1	UTSW	4	103189822	missense	probably damaging	1.00
R7344:Slc35d1	UTSW	4	103213046	splice site	probably null
R7388:Slc35d1	UTSW	4	103189785	critical splice donor site	probably null
R7580:Slc35d1	UTSW	4	103208133	missense
R7729:Slc35d1	UTSW	4	103214847	missense	probably damaging	0.99
R7942:Slc35d1	UTSW	4	103213163	critical splice donor site	probably null
R8408:Slc35d1	UTSW	4	103189810	missense
R8444:Slc35d1	UTSW	4	103214699	missense

Posted On

2015-04-16