Incidental Mutation 'R1586:Slc35a4'
ID 177534
Institutional Source Beutler Lab
Gene Symbol Slc35a4
Ensembl Gene ENSMUSG00000033272
Gene Name solute carrier family 35, member A4
Synonyms 2610030J16Rik
MMRRC Submission 039623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R1586 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 36812268-36816914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36816058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 296 (V296A)
Ref Sequence ENSEMBL: ENSMUSP00000140615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001415] [ENSMUST00000036158] [ENSMUST00000050476] [ENSMUST00000115682] [ENSMUST00000186538] [ENSMUST00000185899]
AlphaFold Q9D321
Predicted Effect probably benign
Transcript: ENSMUST00000001415
SMART Domains Protein: ENSMUSP00000001415
Gene: ENSMUSG00000006050

DomainStartEndE-ValueType
WW 30 61 1.72e-7 SMART
low complexity region 85 100 N/A INTRINSIC
PTB 114 260 7.64e-37 SMART
PTB 286 420 4.07e-32 SMART
low complexity region 444 468 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036158
AA Change: V296A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036081
Gene: ENSMUSG00000033272
AA Change: V296A

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 36 321 6.7e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050476
AA Change: V296A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129718
Gene: ENSMUSG00000033272
AA Change: V296A

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 54 76 N/A INTRINSIC
Pfam:Nuc_sug_transp 78 313 2.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115682
SMART Domains Protein: ENSMUSP00000111346
Gene: ENSMUSG00000044719

DomainStartEndE-ValueType
Blast:KISc 1 105 2e-10 BLAST
SCOP:d1bg2__ 1 105 3e-9 SMART
low complexity region 120 130 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
coiled coil region 354 385 N/A INTRINSIC
coiled coil region 433 460 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170288
Predicted Effect probably benign
Transcript: ENSMUST00000186538
AA Change: V296A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140615
Gene: ENSMUSG00000033272
AA Change: V296A

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 54 76 N/A INTRINSIC
Pfam:Nuc_sug_transp 78 313 2.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185899
SMART Domains Protein: ENSMUSP00000140201
Gene: ENSMUSG00000033272

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:DUF4535 63 101 3.4e-12 PFAM
Meta Mutation Damage Score 0.0985 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 93% (65/70)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,337,228 (GRCm39) A2361V probably damaging Het
Alpi A G 1: 87,027,923 (GRCm39) I219T probably damaging Het
Anapc10 T A 8: 80,501,772 (GRCm39) M180K probably benign Het
Ank3 A G 10: 69,713,708 (GRCm39) I431V probably damaging Het
Anxa8 T A 14: 33,815,894 (GRCm39) D182E probably damaging Het
Atp1a3 T A 7: 24,678,808 (GRCm39) I945F probably damaging Het
Atp2a3 T C 11: 72,882,570 (GRCm39) S1019P probably damaging Het
Cbs T A 17: 31,841,448 (GRCm39) I258F probably damaging Het
Cic T C 7: 24,985,386 (GRCm39) S277P probably damaging Het
Cidea T A 18: 67,493,230 (GRCm39) V83E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca3a2 A G 3: 144,516,477 (GRCm39) I373T possibly damaging Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Cryz A G 3: 154,317,147 (GRCm39) N122S probably benign Het
Dmap1 T C 4: 117,533,319 (GRCm39) E245G probably damaging Het
Epha2 C T 4: 141,045,916 (GRCm39) probably benign Het
Fam222b C T 11: 78,045,347 (GRCm39) L303F probably damaging Het
Fastkd1 T C 2: 69,542,492 (GRCm39) D105G probably benign Het
Fat4 T A 3: 38,943,009 (GRCm39) L634Q probably damaging Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fig4 A G 10: 41,141,423 (GRCm39) F279L probably damaging Het
Guk1 A G 11: 59,077,675 (GRCm39) S22P probably damaging Het
Kmt2d A G 15: 98,762,934 (GRCm39) probably benign Het
Macf1 A T 4: 123,403,639 (GRCm39) S727T probably benign Het
Mki67 T A 7: 135,315,701 (GRCm39) K54* probably null Het
Ms4a8a T C 19: 11,053,696 (GRCm39) T137A possibly damaging Het
Myo5c T C 9: 75,174,313 (GRCm39) Y557H probably damaging Het
Nav3 T A 10: 109,689,115 (GRCm39) K387N probably damaging Het
Oga T G 19: 45,765,349 (GRCm39) T153P possibly damaging Het
Or5bb10 G T 19: 12,206,241 (GRCm39) A223E probably damaging Het
Pde4c T A 8: 71,199,508 (GRCm39) Y223N probably damaging Het
Psd T G 19: 46,303,237 (GRCm39) E715A probably damaging Het
Rpl7 A T 1: 16,172,807 (GRCm39) S171T probably benign Het
Rrm1 A G 7: 102,116,112 (GRCm39) *66W probably null Het
Scgb1b3 T A 7: 31,075,388 (GRCm39) H79Q probably damaging Het
Serpinb9 A T 13: 33,199,469 (GRCm39) M255L probably benign Het
Smgc G A 15: 91,722,596 (GRCm39) A9T possibly damaging Het
Snx11 C A 11: 96,661,522 (GRCm39) W161L probably benign Het
Spag17 A G 3: 99,929,068 (GRCm39) K533E possibly damaging Het
Spata31g1 A G 4: 42,971,512 (GRCm39) I282V probably benign Het
Speer4b A G 5: 27,702,011 (GRCm39) S250P probably damaging Het
Spta1 A T 1: 174,041,061 (GRCm39) H1287L probably benign Het
Surf2 T C 2: 26,809,767 (GRCm39) F239S probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tbc1d22a C A 15: 86,235,852 (GRCm39) probably null Het
Tbcd A G 11: 121,387,886 (GRCm39) Q339R probably benign Het
Tdrd7 A G 4: 45,994,445 (GRCm39) H281R probably benign Het
Tomm5 A G 4: 45,107,915 (GRCm39) probably null Het
Ttc7 T C 17: 87,669,373 (GRCm39) probably null Het
Ulk1 A T 5: 110,937,382 (GRCm39) F638Y probably damaging Het
Vps35l T A 7: 118,409,195 (GRCm39) I612N probably damaging Het
Wdr93 C A 7: 79,418,109 (GRCm39) D277E probably damaging Het
Znrf3 T C 11: 5,231,477 (GRCm39) R583G probably damaging Het
Zscan29 T A 2: 120,991,641 (GRCm39) I716F probably damaging Het
Other mutations in Slc35a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Slc35a4 APN 18 36,815,500 (GRCm39) missense probably damaging 0.99
R0980:Slc35a4 UTSW 18 36,815,834 (GRCm39) missense probably damaging 1.00
R1723:Slc35a4 UTSW 18 36,815,788 (GRCm39) missense possibly damaging 0.61
R3827:Slc35a4 UTSW 18 36,816,041 (GRCm39) missense probably damaging 0.99
R5180:Slc35a4 UTSW 18 36,815,688 (GRCm39) missense probably benign
R5732:Slc35a4 UTSW 18 36,815,394 (GRCm39) missense probably benign 0.05
R7101:Slc35a4 UTSW 18 36,814,591 (GRCm39) missense probably damaging 0.99
R7257:Slc35a4 UTSW 18 36,812,669 (GRCm39) missense unknown
R7402:Slc35a4 UTSW 18 36,813,570 (GRCm39) missense unknown
R7606:Slc35a4 UTSW 18 36,815,638 (GRCm39) missense probably benign 0.01
R8299:Slc35a4 UTSW 18 36,815,980 (GRCm39) missense possibly damaging 0.89
R9300:Slc35a4 UTSW 18 36,815,274 (GRCm39) missense probably damaging 1.00
R9441:Slc35a4 UTSW 18 36,816,111 (GRCm39) missense probably damaging 1.00
R9665:Slc35a4 UTSW 18 36,813,651 (GRCm39) missense probably benign
Z1088:Slc35a4 UTSW 18 36,816,146 (GRCm39) makesense probably null
Z1176:Slc35a4 UTSW 18 36,815,816 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACAGAGCTGATCATGAAGCGAC -3'
(R):5'- TACAAGGCACTTGTTACGGGGC -3'

Sequencing Primer
(F):5'- CCTGAACTTTGGACTGTATGCTG -3'
(R):5'- GCTGCTGGGGATTACAGG -3'
Posted On 2014-04-24