Incidental Mutation 'R0131:Slc35d1'
ID 500117
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 038416-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0131 (G1)
Quality Score 186
Status Not validated
Chromosome 4
Chromosomal Location 103027846-103072361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103065378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 189 (V189I)
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: V168I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521
AA Change: V168I

DomainStartEndE-ValueType
Pfam:TPT 18 307 6.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000094947
SMART Domains Protein: ENSMUSP00000092554
Gene: ENSMUSG00000028521

DomainStartEndE-ValueType
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: V189I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521
AA Change: V189I

DomainStartEndE-ValueType
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: V168I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138926
Gene: ENSMUSG00000028521
AA Change: V168I

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.2%
  • 10x: 90.2%
  • 20x: 71.5%
Validation Efficiency 87% (52/60)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,833,115 (GRCm39) Q1195L possibly damaging Het
Abcc12 A G 8: 87,258,197 (GRCm39) I773T probably benign Het
Adamtsl1 T A 4: 86,260,960 (GRCm39) I1057N possibly damaging Het
Adgrv1 A T 13: 81,651,114 (GRCm39) probably benign Het
Anxa5 G A 3: 36,504,821 (GRCm39) A247V probably damaging Het
Ascc3 T G 10: 50,611,425 (GRCm39) W1589G probably damaging Het
Atp2b2 G A 6: 113,770,743 (GRCm39) P389S probably damaging Het
Bicd1 A G 6: 149,414,445 (GRCm39) E386G probably damaging Het
Bmal2 C A 6: 146,729,601 (GRCm39) H471N probably benign Het
Bpifa6 T A 2: 153,824,851 (GRCm39) S9T probably benign Het
Cacna1c T C 6: 118,602,473 (GRCm39) I1428V probably damaging Het
Cfhr4 T A 1: 139,682,009 (GRCm39) T196S probably damaging Het
Chd8 A G 14: 52,442,783 (GRCm39) V589A probably benign Het
Chrnb2 T C 3: 89,671,713 (GRCm39) M1V probably null Het
Cldnd1 T C 16: 58,553,355 (GRCm39) L232P probably damaging Het
Col16a1 T A 4: 129,960,889 (GRCm39) V449E unknown Het
Col3a1 T A 1: 45,368,028 (GRCm39) probably benign Het
Cttnbp2nl T G 3: 104,913,173 (GRCm39) K237T probably damaging Het
Cyc1 G A 15: 76,229,159 (GRCm39) V142I probably benign Het
Dapk3 A G 10: 81,028,141 (GRCm39) T265A probably benign Het
Ddx21 A T 10: 62,420,531 (GRCm39) M711K possibly damaging Het
Dlg5 A T 14: 24,188,717 (GRCm39) L1735Q probably damaging Het
Dse A G 10: 34,029,660 (GRCm39) Y341H probably damaging Het
Elmod2 A G 8: 84,046,133 (GRCm39) I148T probably damaging Het
Fam187b T A 7: 30,688,545 (GRCm39) V22E probably damaging Het
Faxc A G 4: 21,936,659 (GRCm39) D98G probably damaging Het
Fcgbpl1 A G 7: 27,837,040 (GRCm39) R320G probably damaging Het
Fcrl2 A G 3: 87,166,266 (GRCm39) S170P possibly damaging Het
Fsip2 G A 2: 82,821,465 (GRCm39) D5733N probably benign Het
Gbe1 T C 16: 70,157,740 (GRCm39) probably benign Het
Gm6327 T C 16: 12,578,909 (GRCm39) noncoding transcript Het
H2-T24 T A 17: 36,325,878 (GRCm39) I238F probably damaging Het
Hectd4 A G 5: 121,471,087 (GRCm39) E2658G probably benign Het
Herc1 A C 9: 66,388,192 (GRCm39) I3826L probably benign Het
Hinfp A G 9: 44,211,060 (GRCm39) C67R probably damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Hspg2 T C 4: 137,279,198 (GRCm39) Y3094H probably damaging Het
Htr1f A G 16: 64,747,091 (GRCm39) V67A probably damaging Het
Idi2l T A 13: 8,990,563 (GRCm39) probably benign Het
Iqcc T G 4: 129,510,392 (GRCm39) E374D probably damaging Het
Kcnj9 T C 1: 172,153,765 (GRCm39) T120A probably damaging Het
Kitl C T 10: 99,923,226 (GRCm39) P208S probably benign Het
Kmt2b A T 7: 30,283,346 (GRCm39) C296S probably damaging Het
Lgals4 A G 7: 28,533,657 (GRCm39) probably null Het
Lpcat4 A G 2: 112,077,093 (GRCm39) Y479C probably damaging Het
Lrrc74b T C 16: 17,371,016 (GRCm39) N227S probably damaging Het
Mdc1 T A 17: 36,163,473 (GRCm39) V1007D probably damaging Het
Mocos T G 18: 24,812,819 (GRCm39) I571S probably benign Het
Myh8 A G 11: 67,183,014 (GRCm39) N659D probably damaging Het
Mylk T C 16: 34,695,874 (GRCm39) V203A probably benign Het
Myom2 A G 8: 15,133,329 (GRCm39) N407S probably damaging Het
Naip2 A G 13: 100,320,296 (GRCm39) V240A probably benign Het
Nap1l1 T C 10: 111,321,370 (GRCm39) S37P probably benign Het
Nin T G 12: 70,097,915 (GRCm39) K515T probably damaging Het
Npl T A 1: 153,384,864 (GRCm39) K258* probably null Het
Ntn4 T A 10: 93,480,569 (GRCm39) S98T possibly damaging Het
Or10x1 T C 1: 174,197,152 (GRCm39) V223A probably damaging Het
Or2t6 T C 14: 14,175,620 (GRCm38) D154G probably benign Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5k14 C A 16: 58,693,269 (GRCm39) M81I probably benign Het
Or8u10 T C 2: 85,915,844 (GRCm39) I92M probably damaging Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Pate3 A G 9: 35,557,453 (GRCm39) C68R probably damaging Het
Pcdh15 A G 10: 74,006,440 (GRCm39) D106G probably null Het
Ppox C A 1: 171,106,849 (GRCm39) A192S possibly damaging Het
Prkdc T C 16: 15,531,517 (GRCm39) L1380S probably benign Het
Proc C T 18: 32,268,951 (GRCm39) M11I probably benign Het
Psd4 C A 2: 24,295,363 (GRCm39) A839E probably damaging Het
Psg21 A G 7: 18,388,793 (GRCm39) Y100H probably benign Het
Pten T A 19: 32,753,469 (GRCm39) V45E probably benign Het
Ptprn2 T G 12: 116,685,711 (GRCm39) F57V probably damaging Het
Ptprt C T 2: 162,120,030 (GRCm39) V146I probably benign Het
R3hdm2 T A 10: 127,334,322 (GRCm39) M915K probably damaging Het
Rab26 C T 17: 24,749,759 (GRCm39) probably null Het
Rab7b T C 1: 131,626,293 (GRCm39) L107P probably damaging Het
Rbm47 T A 5: 66,183,872 (GRCm39) T244S possibly damaging Het
Rhbdf2 C A 11: 116,496,170 (GRCm39) G122C probably damaging Het
Rnf213 A G 11: 119,321,187 (GRCm39) E1215G probably benign Het
Rprd2 T C 3: 95,681,673 (GRCm39) K407E probably damaging Het
Siah3 G A 14: 75,693,574 (GRCm39) V27I possibly damaging Het
Slc12a3 G A 8: 95,067,511 (GRCm39) probably benign Het
Slc14a2 T A 18: 78,235,338 (GRCm39) N280Y probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc25a35 A G 11: 68,862,786 (GRCm39) Y247C probably damaging Het
Slc29a4 A G 5: 142,691,285 (GRCm39) D55G probably benign Het
Spg11 T C 2: 121,901,449 (GRCm39) E1497G probably damaging Het
Srrm1 G A 4: 135,067,884 (GRCm39) R322* probably null Het
Stac3 A T 10: 127,339,519 (GRCm39) R138S probably damaging Het
Tet3 C G 6: 83,345,770 (GRCm39) G1556R probably damaging Het
Tgfbr3 A G 5: 107,280,682 (GRCm39) S693P probably benign Het
Tmcc2 C T 1: 132,308,444 (GRCm39) G150D probably benign Het
Tmem216 T C 19: 10,531,970 (GRCm39) Y44C probably damaging Het
Tmem260 T A 14: 48,720,779 (GRCm39) C306* probably null Het
Tspyl1 A G 10: 34,159,085 (GRCm39) N270S probably damaging Het
Ubr4 A G 4: 139,191,362 (GRCm39) T4127A possibly damaging Het
Ugt2a2 T A 5: 87,622,720 (GRCm39) K293* probably null Het
Vmn2r102 A C 17: 19,899,025 (GRCm39) T456P probably benign Het
Vmn2r90 T A 17: 17,932,511 (GRCm39) S139R probably benign Het
Wrnip1 G A 13: 32,990,847 (GRCm39) V369I probably damaging Het
Zc3h12c T A 9: 52,037,923 (GRCm39) I305F possibly damaging Het
Zmym2 A G 14: 57,180,715 (GRCm39) N876D probably benign Het
Other mutations in Slc35d1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2017-12-01