Incidental Mutation 'R5137:Slc35d1'
ID 396198
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 042723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5137 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 103027846-103072361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103071978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 8 (L8Q)
Ref Sequence ENSEMBL: ENSMUSP00000138926 (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: L8Q

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521
AA Change: L8Q

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: L29Q

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521
AA Change: L29Q

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 possibly damaging
Transcript: ENSMUST00000183432
AA Change: L8Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138926
Gene: ENSMUSG00000028521
AA Change: L8Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204816
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,123,920 (GRCm39) V75A probably benign Het
Ace G C 11: 105,865,652 (GRCm39) W628C probably damaging Het
Adh4 T C 3: 138,127,996 (GRCm39) S141P probably benign Het
Apob T C 12: 8,061,384 (GRCm39) Y3256H possibly damaging Het
B3galnt1 G T 3: 69,482,282 (GRCm39) N326K probably benign Het
Bltp3a T G 17: 28,095,964 (GRCm39) probably null Het
Catsperb T C 12: 101,516,070 (GRCm39) F569L probably damaging Het
Cecr2 A G 6: 120,732,478 (GRCm39) I225V probably benign Het
Cox5b A G 1: 36,731,510 (GRCm39) probably null Het
Crybg1 T C 10: 43,834,332 (GRCm39) D1953G probably damaging Het
Dnaaf5 C T 5: 139,167,215 (GRCm39) T707M probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Ebf1 G A 11: 44,882,295 (GRCm39) R409Q probably damaging Het
Eef2k G A 7: 120,484,645 (GRCm39) A256T probably damaging Het
Eef2k C A 7: 120,484,646 (GRCm39) A256D probably damaging Het
Evl C G 12: 108,647,781 (GRCm39) T294S probably benign Het
Eya2 T C 2: 165,573,548 (GRCm39) Y288H probably damaging Het
Ezh2 A T 6: 47,509,014 (GRCm39) probably null Het
Fam171a1 T C 2: 3,226,426 (GRCm39) Y395H probably benign Het
Gas2l3 C A 10: 89,249,837 (GRCm39) R427L probably damaging Het
Gli2 T A 1: 118,783,233 (GRCm39) I91F probably damaging Het
Gm4884 T C 7: 40,692,318 (GRCm39) S96P probably damaging Het
Gprc5d T A 6: 135,093,031 (GRCm39) D292V probably benign Het
Herc1 A G 9: 66,355,505 (GRCm39) K2252R probably benign Het
Il1rl1 A T 1: 40,489,285 (GRCm39) M346L probably benign Het
Kcna5 A T 6: 126,510,946 (GRCm39) V394D probably damaging Het
Kcng4 A T 8: 120,352,617 (GRCm39) M431K possibly damaging Het
Kifbp A T 10: 62,414,020 (GRCm39) V46E probably damaging Het
Large1 A G 8: 73,774,937 (GRCm39) F258L possibly damaging Het
Mapkbp1 T A 2: 119,852,662 (GRCm39) C1001S probably damaging Het
Micu1 A G 10: 59,663,054 (GRCm39) Q328R probably benign Het
Mmp11 G A 10: 75,761,290 (GRCm39) P437S probably damaging Het
Msh6 T A 17: 88,287,716 (GRCm39) F119I possibly damaging Het
Myo6 A G 9: 80,149,531 (GRCm39) E159G probably damaging Het
Negr1 T A 3: 156,721,833 (GRCm39) Y136N probably damaging Het
Nol9 T A 4: 152,130,428 (GRCm39) C321S probably damaging Het
Nos1 T C 5: 118,043,378 (GRCm39) F551S probably benign Het
Nup153 C A 13: 46,837,629 (GRCm39) G1198C probably damaging Het
Omd T C 13: 49,743,552 (GRCm39) S201P probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or4c120 C A 2: 89,000,744 (GRCm39) V271F probably benign Het
Or51l14 A G 7: 103,100,919 (GRCm39) Y125C probably damaging Het
Or51l14 C A 7: 103,100,920 (GRCm39) Y125* probably null Het
Oxct1 G T 15: 4,064,832 (GRCm39) A57S probably benign Het
Pcdhga7 T G 18: 37,850,433 (GRCm39) S813R probably damaging Het
Pcmtd2 A T 2: 181,496,787 (GRCm39) I255F possibly damaging Het
Pdk1 T G 2: 71,713,913 (GRCm39) M186R possibly damaging Het
Pelp1 T C 11: 70,285,925 (GRCm39) T648A probably damaging Het
Phldb2 A T 16: 45,628,621 (GRCm39) S570R possibly damaging Het
Pramel16 T A 4: 143,675,690 (GRCm39) T379S probably benign Het
Ptprj T C 2: 90,299,992 (GRCm39) T270A possibly damaging Het
Reln C T 5: 22,160,179 (GRCm39) G2130D probably damaging Het
Rims1 A T 1: 22,358,844 (GRCm39) Y663* probably null Het
Rit2 T C 18: 31,286,817 (GRCm39) T123A probably benign Het
Rmdn2 A T 17: 79,975,418 (GRCm39) E302D probably benign Het
Ryr1 T C 7: 28,801,283 (GRCm39) E827G possibly damaging Het
Siglec1 C T 2: 130,923,264 (GRCm39) G494R probably damaging Het
Slc16a14 T A 1: 84,890,318 (GRCm39) Y329F probably damaging Het
Smpdl3a C T 10: 57,677,163 (GRCm39) S57L possibly damaging Het
Snx9 T C 17: 5,978,528 (GRCm39) V566A probably damaging Het
Spaca1 A T 4: 34,029,095 (GRCm39) I126N probably damaging Het
Spred1 T G 2: 116,994,052 (GRCm39) I94S probably damaging Het
Tardbp T C 4: 148,706,494 (GRCm39) D105G possibly damaging Het
Tet2 T C 3: 133,182,326 (GRCm39) S1213G probably benign Het
Trak1 A T 9: 121,196,121 (GRCm39) probably benign Het
Trem3 G A 17: 48,556,756 (GRCm39) V76M possibly damaging Het
Ttc13 G T 8: 125,421,674 (GRCm39) Y250* probably null Het
Ttll5 T G 12: 85,969,819 (GRCm39) S714R possibly damaging Het
Ube2l6 T G 2: 84,633,220 (GRCm39) probably null Het
Ubr3 T C 2: 69,803,679 (GRCm39) S1090P probably damaging Het
Vezt T C 10: 93,806,372 (GRCm39) T680A probably benign Het
Virma A G 4: 11,546,297 (GRCm39) K1762E probably damaging Het
Vps53 A G 11: 76,057,074 (GRCm39) S57P probably damaging Het
Vwa7 G T 17: 35,236,822 (GRCm39) D130Y probably damaging Het
Vwa8 T G 14: 79,302,342 (GRCm39) F1004V probably damaging Het
Zfp35 A T 18: 24,137,194 (GRCm39) K513* probably null Het
Zfp384 ACAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGC 6: 125,013,472 (GRCm39) probably benign Het
Zfp521 C A 18: 13,978,505 (GRCm39) C636F probably damaging 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
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
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'- TCTCAGTGACAGCGGCGA -3'
(R):5'- GTGAACCCCAGTGTCCCAA -3'

Sequencing Primer
(F):5'- AGCGTGGCCGAGGGTATC -3'
(R):5'- ACGCTAGGCCCGCAATC -3'
Posted On 2016-06-21