Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Slc35d1'

350571

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

041910-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4649 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

103027846-103072361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103070426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 110 (F110L)

Ref Sequence

ENSEMBL: ENSMUSP00000122124 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036195
AA Change: F89L

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521
AA Change: F89L

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 damaging
Transcript: ENSMUST00000150285
AA Change: F110L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521
AA Change: F110L

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: F89L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138926
Gene: ENSMUSG00000028521
AA Change: F89L

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,963,542 (GRCm39)	V841F	probably damaging	Het
Adcy10	G	A	1: 165,331,618 (GRCm39)	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,344,571 (GRCm39)	M127I	probably damaging	Het
Agpat5	A	G	8: 18,929,668 (GRCm39)	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,676,213 (GRCm39)	Y186N	possibly damaging	Het
Alx1	A	T	10: 102,845,193 (GRCm39)	N279K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Arsi	A	G	18: 61,050,170 (GRCm39)	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,201,581 (GRCm39)	R155W	probably damaging	Het
BC028528	T	C	3: 95,795,577 (GRCm39)	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,200,970 (GRCm39)	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Bzw2	A	T	12: 36,173,980 (GRCm39)	V98E	probably null	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Cd19	A	G	7: 126,013,664 (GRCm39)	S42P	probably benign	Het
Chml	A	G	1: 175,514,962 (GRCm39)	S138P	probably benign	Het
Clic6	T	G	16: 92,327,827 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,547,076 (GRCm39)	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,527,361 (GRCm39)	E82K	probably benign	Het
Csmd2	G	A	4: 128,439,866 (GRCm39)	V3107M	probably benign	Het
Cspg4	T	A	9: 56,794,149 (GRCm39)	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,001,637 (GRCm39)	R315Q	possibly damaging	Het
Deaf1	A	G	7: 140,877,486 (GRCm39)	V547A	possibly damaging	Het
Dmxl1	C	T	18: 50,011,698 (GRCm39)	T1285I	probably damaging	Het
Dnah3	C	A	7: 119,646,921 (GRCm39)	W1036L	probably damaging	Het
Dnai3	A	G	3: 145,753,922 (GRCm39)	S713P	probably damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,735,302 (GRCm39)	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,523,304 (GRCm39)	H12L	probably damaging	Het
Enam	T	C	5: 88,640,827 (GRCm39)	M163T	probably benign	Het
Fbxo22	T	A	9: 55,128,333 (GRCm39)	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,767,085 (GRCm39)	K148N	probably damaging	Het
Foxi3	A	G	6: 70,933,960 (GRCm39)	D149G	probably damaging	Het
Gbp8	C	T	5: 105,189,807 (GRCm39)	G75D	probably damaging	Het
Gm10784	C	T	13: 50,099,251 (GRCm39)		noncoding transcript	Het
Gm7247	G	A	14: 51,807,051 (GRCm39)		probably null	Het
Grik3	T	A	4: 125,544,278 (GRCm39)	V333E	probably damaging	Het
Gsap	A	T	5: 21,431,309 (GRCm39)	D211V	probably damaging	Het
H2-T15	T	C	17: 36,368,768 (GRCm39)	Y104C	possibly damaging	Het
Ino80	T	C	2: 119,261,489 (GRCm39)	N725S	probably damaging	Het
Itgad	A	G	7: 127,788,703 (GRCm39)	I443V	probably benign	Het
Itsn1	T	A	16: 91,638,476 (GRCm39)	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,285,783 (GRCm39)		probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850 (GRCm39)	Q41K	probably benign	Het
Mapk13	C	T	17: 28,997,461 (GRCm39)	R360*	probably null	Het
Mapk8ip3	T	A	17: 25,123,726 (GRCm39)	I599F	probably damaging	Het
Me1	T	C	9: 86,561,905 (GRCm39)	K60R	probably benign	Het
Mga	T	A	2: 119,771,974 (GRCm39)	D1532E	possibly damaging	Het
Miga1	G	A	3: 151,984,642 (GRCm39)	S427L	probably benign	Het
Mknk2	A	T	10: 80,505,173 (GRCm39)	V186E	probably damaging	Het
Myo1a	C	A	10: 127,546,086 (GRCm39)	N236K	probably benign	Het
Myt1	A	G	2: 181,439,207 (GRCm39)	D243G	probably benign	Het
Ncf4	T	C	15: 78,140,189 (GRCm39)	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,117,603 (GRCm39)	L442F	probably damaging	Het
Olfm4	G	A	14: 80,258,747 (GRCm39)	D332N	probably benign	Het
Or4a81	C	A	2: 89,619,637 (GRCm39)	V20F	probably benign	Het
Or4b1d	T	A	2: 89,969,432 (GRCm39)	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,016,452 (GRCm39)	M69K	probably benign	Het
Oxnad1	T	A	14: 31,824,366 (GRCm39)	*312K	probably null	Het
Plekhg1	A	G	10: 3,906,985 (GRCm39)	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,882,691 (GRCm39)	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,856,941 (GRCm39)	H132R	probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pudp	T	C	18: 50,701,259 (GRCm39)	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Ranbp3	T	A	17: 57,003,640 (GRCm39)		probably null	Het
Ranbp6	A	G	19: 29,787,721 (GRCm39)	V877A	probably benign	Het
Rgsl1	A	T	1: 153,693,328 (GRCm39)	S618T	probably benign	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rhox2a	A	T	X: 36,509,015 (GRCm39)	I61L	probably benign	Het
Rnf207	A	C	4: 152,396,612 (GRCm39)	D466E	probably benign	Het
Rnf7	A	G	9: 96,353,883 (GRCm39)	I80T	probably benign	Het
Ros1	T	A	10: 52,005,764 (GRCm39)	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,861,096 (GRCm39)		probably null	Het
Sbk1	T	C	7: 125,890,301 (GRCm39)	S105P	probably damaging	Het
Sdk1	T	C	5: 141,992,380 (GRCm39)	Y790H	probably damaging	Het
Sec62	T	A	3: 30,864,683 (GRCm39)	N182K	unknown	Het
Slc15a1	T	C	14: 121,715,504 (GRCm39)	Y345C	probably damaging	Het
Slc27a1	G	A	8: 72,023,408 (GRCm39)	A15T	probably benign	Het
Slc39a5	T	A	10: 128,233,136 (GRCm39)	S333C	probably benign	Het
Tarbp1	A	G	8: 127,173,934 (GRCm39)	S927P	probably damaging	Het
Tns1	A	G	1: 73,992,930 (GRCm39)	S583P	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trim40	T	C	17: 37,193,531 (GRCm39)		probably null	Het
Trim42	C	A	9: 97,244,998 (GRCm39)	V601L	probably benign	Het
Trpc7	G	A	13: 57,035,367 (GRCm39)	R189C	probably damaging	Het
Ttc29	A	T	8: 79,060,208 (GRCm39)	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 84,870,743 (GRCm39)	A847S	probably benign	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly damaging	Het
Zfat	A	G	15: 68,056,325 (GRCm39)	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,615,784 (GRCm39)	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349 (GRCm39)	N438K	probably benign	Het
Zfp952	T	A	17: 33,221,899 (GRCm39)	V88E	probably damaging	Het
Znfx1	G	T	2: 166,898,276 (GRCm39)	A216D	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
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'- TGATAGTGGAAACGTCCTGGTG -3'
(R):5'- AGCAACTGATGTTTCTGTCTCAC -3'

Sequencing Primer
(F):5'- AAACGTCCTGGTGTTTTTGTGCC -3'
(R):5'- CTGTCTCACATGGTTGATTATGTTC -3'

Posted On

2015-10-08