Incidental Mutation 'R5327:Slc35d1'
ID 422025
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 042910-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5327 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 103027846-103072361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103070383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 103 (L103P)
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 damaging
Transcript: ENSMUST00000036195
AA Change: L103P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037617
Gene: ENSMUSG00000028521
AA Change: L103P

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 damaging
Transcript: ENSMUST00000150285
AA Change: L124P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122124
Gene: ENSMUSG00000028521
AA Change: L124P

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 damaging
Transcript: ENSMUST00000183432
AA Change: L103P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138926
Gene: ENSMUSG00000028521
AA Change: L103P

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
Meta Mutation Damage Score 0.8769 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (101/101)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A G 1: 130,668,740 (GRCm39) S36G probably damaging Het
Aarsd1 T C 11: 101,301,203 (GRCm39) N280D probably benign Het
Abca2 T A 2: 25,335,686 (GRCm39) M2099K probably damaging Het
Abcb5 T A 12: 118,875,278 (GRCm39) E631D probably benign Het
Acss2 T A 2: 155,415,149 (GRCm39) L682Q probably null Het
Adamts14 G A 10: 61,034,267 (GRCm39) P1207L probably benign Het
Adora1 G A 1: 134,130,748 (GRCm39) R308* probably null Het
Arcn1 A T 9: 44,668,444 (GRCm39) V264E probably benign Het
B3galt1 G A 2: 67,949,112 (GRCm39) G276S probably damaging Het
Bms1 A T 6: 118,382,179 (GRCm39) M453K possibly damaging Het
Bnip3l T C 14: 67,225,180 (GRCm39) Y218C probably damaging Het
Cacna2d2 A G 9: 107,390,805 (GRCm39) E379G probably null Het
Cacng6 G A 7: 3,483,376 (GRCm39) G235R probably damaging Het
Capn8 A T 1: 182,456,169 (GRCm39) T640S probably benign Het
Ccdc106 T C 7: 5,063,159 (GRCm39) probably benign Het
Ccdc33 A T 9: 57,993,860 (GRCm39) N95K probably benign Het
Celsr3 T A 9: 108,719,907 (GRCm39) probably benign Het
Cemip A T 7: 83,604,509 (GRCm39) N844K probably damaging Het
Chrdl2 A T 7: 99,677,948 (GRCm39) T284S probably damaging Het
Ckm A G 7: 19,154,090 (GRCm39) Y279C probably damaging Het
Clvs1 A T 4: 9,424,261 (GRCm39) I236F probably damaging Het
Col9a1 T C 1: 24,234,620 (GRCm39) probably null Het
Csmd1 T C 8: 17,266,728 (GRCm39) E66G possibly damaging Het
Ctdsp2 A G 10: 126,831,923 (GRCm39) D26G probably damaging Het
Ctsll3 C A 13: 60,946,721 (GRCm39) probably null Het
Cyp2d12 A T 15: 82,439,423 (GRCm39) M26L probably benign Het
Cyp8b1 C T 9: 121,743,950 (GRCm39) D461N probably damaging Het
Dbt A T 3: 116,322,220 (GRCm39) probably benign Het
Dnah7c A G 1: 46,704,728 (GRCm39) D2247G probably benign Het
Dsg1c A G 18: 20,400,994 (GRCm39) I166V possibly damaging Het
Duoxa1 T A 2: 122,134,361 (GRCm39) E252D probably damaging Het
Ezr T A 17: 7,020,448 (GRCm39) K211M probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fahd2a T C 2: 127,283,878 (GRCm39) D54G possibly damaging Het
Fbxo9 A T 9: 78,003,146 (GRCm39) probably null Het
Fndc1 A G 17: 7,991,540 (GRCm39) S719P unknown Het
Gas7 G T 11: 67,552,916 (GRCm39) G159C probably damaging Het
Gba2 T C 4: 43,574,063 (GRCm39) D130G probably damaging Het
Gli3 T G 13: 15,723,092 (GRCm39) S78A probably damaging Het
Gtpbp6 A G 5: 110,254,770 (GRCm39) F101S probably damaging Het
Gzme G A 14: 56,355,224 (GRCm39) H236Y probably benign Het
Hira T C 16: 18,773,508 (GRCm39) Y943H probably damaging Het
Hmbox1 G A 14: 65,134,144 (GRCm39) S152L possibly damaging Het
Ibtk A G 9: 85,619,519 (GRCm39) probably null Het
Jade1 T C 3: 41,568,413 (GRCm39) I827T possibly damaging Het
Jakmip3 A T 7: 138,627,164 (GRCm39) E389D possibly damaging Het
Klhdc8b A T 9: 108,326,241 (GRCm39) probably benign Het
Lama2 T C 10: 27,014,942 (GRCm39) T1589A probably benign Het
Lbx2 A C 6: 83,064,784 (GRCm39) K107T probably damaging Het
Ldha A G 7: 46,503,522 (GRCm39) M259V probably benign Het
Lrrtm4 A G 6: 79,999,620 (GRCm39) K344R probably damaging Het
Ltb A T 17: 35,414,935 (GRCm39) E245V probably damaging Het
Macf1 GCCCCC GCCCCCC 4: 123,244,784 (GRCm39) probably null Het
Map3k13 T A 16: 21,740,397 (GRCm39) S575T possibly damaging Het
Mcpt2 A T 14: 56,280,833 (GRCm39) I74F probably damaging Het
Mpeg1 T A 19: 12,439,013 (GRCm39) V157D probably damaging Het
Mrpl21 A T 19: 3,337,009 (GRCm39) probably null Het
Nagpa T C 16: 5,017,877 (GRCm39) T99A possibly damaging Het
Nphs1 A T 7: 30,163,250 (GRCm39) I469F probably benign Het
Nyap2 A G 1: 81,169,756 (GRCm39) E171G possibly damaging Het
Oas1e A G 5: 120,930,006 (GRCm39) Y171H probably damaging Het
Or10ag59 T A 2: 87,406,043 (GRCm39) V205D probably damaging Het
Or2y1f T C 11: 49,184,493 (GRCm39) L115P probably damaging Het
Or5ac23 T C 16: 59,149,461 (GRCm39) K137R probably benign Het
Or5h26 T C 16: 58,987,983 (GRCm39) I174M possibly damaging Het
Otud7b C A 3: 96,063,055 (GRCm39) Q765K probably benign Het
Pdzd7 A G 19: 45,017,216 (GRCm39) V851A probably benign Het
Pi4ka T G 16: 17,143,277 (GRCm39) K794T probably damaging Het
Pkhd1l1 T A 15: 44,410,258 (GRCm39) N2588K probably damaging Het
Pla2g6 A T 15: 79,186,837 (GRCm39) M471K probably benign Het
Plagl2 T C 2: 153,077,759 (GRCm39) H74R possibly damaging Het
Prf1 T A 10: 61,136,037 (GRCm39) N104K probably benign Het
Ptprf A T 4: 118,093,586 (GRCm39) I358N probably damaging Het
Rcsd1 A G 1: 165,482,872 (GRCm39) probably null Het
Rev1 G A 1: 38,147,532 (GRCm39) R3* probably null Het
Rp1 T C 1: 4,419,583 (GRCm39) probably null Het
Rrp12 G A 19: 41,881,035 (GRCm39) T132I probably damaging Het
Sema3a T C 5: 13,649,357 (GRCm39) V702A probably benign Het
Serpinb12 A G 1: 106,884,174 (GRCm39) N307D probably damaging Het
Smyd4 T C 11: 75,281,765 (GRCm39) C413R probably damaging Het
Stab1 G A 14: 30,883,793 (GRCm39) Q255* probably null Het
Synpo T A 18: 60,736,918 (GRCm39) I343F possibly damaging Het
Tcirg1 A G 19: 3,952,342 (GRCm39) probably null Het
Tmem132c A G 5: 127,640,816 (GRCm39) T996A possibly damaging Het
Trim10 A G 17: 37,181,081 (GRCm39) E104G probably damaging Het
Trpc1 T C 9: 95,603,524 (GRCm39) probably null Het
Tspo2 A T 17: 48,756,887 (GRCm39) probably benign Het
Ugt2a3 A T 5: 87,479,174 (GRCm39) I258N probably damaging Het
Usp34 T C 11: 23,418,846 (GRCm39) L2998P probably damaging Het
Vmn1r45 A C 6: 89,910,123 (GRCm39) D162E possibly damaging Het
Vmn2r117 A T 17: 23,696,848 (GRCm39) Y186* probably null Het
Vmn2r67 A G 7: 84,785,698 (GRCm39) F769S probably damaging Het
Zbtb17 A G 4: 141,192,942 (GRCm39) I514V probably benign Het
Zfp329 A C 7: 12,545,421 (GRCm39) D34E 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
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
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'- ACTGATGTTTCTGTCTCACATGG -3'

Sequencing Primer
(F):5'- AAACGTCCTGGTGTTTTTGTGCC -3'
(R):5'- CCCTCTTCTTCCAAGGATAGTTAATG -3'
Posted On 2016-08-04