Mutagenetix > Incidental Mutation

Incidental Mutation 'R0206:Slc35d1'

35447

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

038459-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0206 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

103027846-103072361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103065351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 177 (T177A)

Ref Sequence

ENSEMBL: ENSMUSP00000138926 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521
AA Change: T177A

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: T198A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521
AA Change: T198A

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 damaging
Transcript: ENSMUST00000183432
AA Change: T177A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138926
Gene: ENSMUSG00000028521
AA Change: T177A

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

Meta Mutation Damage Score

0.8514

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

99% (83/84)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,470,486 (GRCm39)	T165I	probably benign	Het
Aadacl2fm1	C	T	3: 59,840,110 (GRCm39)	R61C	probably damaging	Het
Acsl5	A	G	19: 55,269,001 (GRCm39)	K221E	probably benign	Het
Adam26a	A	C	8: 44,023,455 (GRCm39)	F12V	possibly damaging	Het
Adgrb2	T	C	4: 129,886,352 (GRCm39)	L164P	probably damaging	Het
Aldh1l1	T	C	6: 90,546,848 (GRCm39)	F384L	possibly damaging	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Btbd8	A	G	5: 107,652,906 (GRCm39)	T304A	probably benign	Het
Cacna1b	A	G	2: 24,497,492 (GRCm39)	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,208,738 (GRCm39)	P918R	probably damaging	Het
Cdca3	C	T	6: 124,809,514 (GRCm39)		probably benign	Het
Cenpj	G	T	14: 56,801,427 (GRCm39)	A182E	probably benign	Het
Cit	A	T	5: 116,132,089 (GRCm39)	N1782Y	possibly damaging	Het
Cmya5	A	G	13: 93,232,065 (GRCm39)	S1008P	probably damaging	Het
Csgalnact2	T	G	6: 118,091,347 (GRCm39)	Q197P	probably benign	Het
D630045J12Rik	A	G	6: 38,116,385 (GRCm39)	M1745T	probably damaging	Het
Ddt	A	G	10: 75,608,719 (GRCm39)	M1T	probably null	Het
Dnah11	A	C	12: 118,007,509 (GRCm39)	N2156K	probably damaging	Het
Dock3	G	T	9: 106,874,195 (GRCm39)	Y425*	probably null	Het
Eng	A	T	2: 32,569,005 (GRCm39)	T511S	probably benign	Het
Gabra6	C	T	11: 42,207,906 (GRCm39)	W188*	probably null	Het
Gnptab	A	T	10: 88,275,372 (GRCm39)	H1111L	probably damaging	Het
H2-M10.4	A	G	17: 36,771,375 (GRCm39)	W268R	probably damaging	Het
Hrct1	C	A	4: 43,727,384 (GRCm39)	T8K	possibly damaging	Het
Il2ra	T	C	2: 11,686,828 (GRCm39)		probably benign	Het
Inhca	A	G	9: 103,159,861 (GRCm39)	C5R	probably damaging	Het
Inpp5k	T	C	11: 75,521,969 (GRCm39)	I15T	probably benign	Het
Ipcef1	A	G	10: 6,870,062 (GRCm39)	S113P	probably damaging	Het
Kctd8	A	T	5: 69,498,508 (GRCm39)	V46E	probably damaging	Het
Klk1b9	T	A	7: 43,628,854 (GRCm39)	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,492,562 (GRCm39)	F1334L	possibly damaging	Het
Me3	A	T	7: 89,498,868 (GRCm39)	T483S	probably benign	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,191,682 (GRCm39)		probably benign	Het
Mvk	C	T	5: 114,597,035 (GRCm39)	T334M	probably damaging	Het
Mxra8	T	A	4: 155,927,053 (GRCm39)	I329N	probably damaging	Het
Mybphl	T	C	3: 108,282,731 (GRCm39)	V207A	probably damaging	Het
Myom1	T	C	17: 71,344,292 (GRCm39)	S266P	probably damaging	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Or1d2	A	T	11: 74,255,968 (GRCm39)	I158F	probably benign	Het
Or2ag12	A	G	7: 106,276,781 (GRCm39)	V304A	probably benign	Het
Or52b1	A	T	7: 104,979,090 (GRCm39)	M103K	possibly damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m3	T	C	2: 85,838,636 (GRCm39)	I172T	probably damaging	Het
Or6f1	T	C	7: 85,970,854 (GRCm39)	Y102C	probably benign	Het
Pcdhb18	T	C	18: 37,623,240 (GRCm39)	I190T	possibly damaging	Het
Pgbd1	A	C	13: 21,618,651 (GRCm39)	L2R	probably damaging	Het
Pkp4	A	G	2: 59,096,780 (GRCm39)	I61V	probably damaging	Het
Pold4	T	G	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Pomgnt1	T	C	4: 116,015,757 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,355,368 (GRCm39)	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,061,463 (GRCm39)	V891A	possibly damaging	Het
Psme3ip1	A	G	8: 95,314,639 (GRCm39)	F73S	probably damaging	Het
Rlig1	T	A	10: 100,422,056 (GRCm39)	K69*	probably null	Het
Rmdn2	T	A	17: 79,957,716 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,691,137 (GRCm39)		probably benign	Het
Scgb2b27	C	A	7: 33,711,562 (GRCm39)	E96*	probably null	Het
Sec16b	G	T	1: 157,380,505 (GRCm39)	G359*	probably null	Het
Slc1a3	A	G	15: 8,738,040 (GRCm39)		probably benign	Het
Slc28a1	A	T	7: 80,767,454 (GRCm39)		probably benign	Het
Snx33	G	A	9: 56,833,508 (GRCm39)	S187L	probably damaging	Het
Spg11	C	T	2: 121,886,177 (GRCm39)		probably null	Het
Spint1	T	C	2: 119,078,826 (GRCm39)		probably benign	Het
Spta1	A	G	1: 174,020,526 (GRCm39)	H545R	probably damaging	Het
Tinag	A	G	9: 76,907,134 (GRCm39)	I367T	probably damaging	Het
Tln1	C	T	4: 43,549,151 (GRCm39)	V644M	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ube4b	T	C	4: 149,483,094 (GRCm39)	H58R	probably benign	Het
Ush2a	A	C	1: 188,263,958 (GRCm39)	I1612L	probably damaging	Het
Usp28	A	G	9: 48,939,569 (GRCm39)	Y275C	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Vps13c	A	G	9: 67,846,444 (GRCm39)		probably benign	Het
Vwf	T	C	6: 125,614,419 (GRCm39)	F1100S	probably damaging	Het
Zfp318	G	T	17: 46,709,945 (GRCm39)	R556L	probably benign	Het
Zkscan1	T	A	5: 138,099,448 (GRCm39)	C391S	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
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
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'- ACATCAGGCCCCTCACTAAGTTGTC -3'
(R):5'- AGCTGCTAACTGCATGAGGCTACC -3'

Sequencing Primer
(F):5'- gtgtgtttgtttgtttgtttgtttg -3'
(R):5'- CTAACTGCATGAGGCTACCTAGATG -3'

Posted On

2013-05-09