Incidental Mutation 'R1723:Slc35a4'
ID 191642
Institutional Source Beutler Lab
Gene Symbol Slc35a4
Ensembl Gene ENSMUSG00000033272
Gene Name solute carrier family 35, member A4
Synonyms 2610030J16Rik
MMRRC Submission 039755-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R1723 (G1)
Quality Score 119
Status Validated
Chromosome 18
Chromosomal Location 36812268-36816914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36815788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 206 (T206K)
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 possibly damaging
Transcript: ENSMUST00000036158
AA Change: T206K

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036081
Gene: ENSMUSG00000033272
AA Change: T206K

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 36 321 6.7e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000050476
AA Change: T206K

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129718
Gene: ENSMUSG00000033272
AA Change: T206K

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 possibly damaging
Transcript: ENSMUST00000186538
AA Change: T206K

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140615
Gene: ENSMUSG00000033272
AA Change: T206K

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 0.8183 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G T 6: 85,605,735 (GRCm39) G2462C probably damaging Het
Anapc5 T C 5: 122,937,406 (GRCm39) E464G probably damaging Het
Aoc3 T A 11: 101,227,261 (GRCm39) V378E possibly damaging Het
Atp13a5 T A 16: 29,051,551 (GRCm39) K1152I possibly damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Calcoco1 C A 15: 102,627,988 (GRCm39) G49C probably damaging Het
Cd70 T C 17: 57,453,401 (GRCm39) T88A possibly damaging Het
Cpeb1 C T 7: 81,085,974 (GRCm39) R56Q probably benign Het
Dglucy A G 12: 100,808,938 (GRCm39) Y212C probably damaging Het
Dnhd1 C A 7: 105,364,127 (GRCm39) P4160T possibly damaging Het
Ecel1 T C 1: 87,082,143 (GRCm39) D190G probably benign Het
Exoc6b A G 6: 85,046,326 (GRCm39) L21P probably damaging Het
Fam110c A G 12: 31,124,394 (GRCm39) R119G unknown Het
Gask1b T A 3: 79,843,970 (GRCm39) N32K probably benign Het
Gm42791 C A 5: 148,896,311 (GRCm39) probably benign Het
Hpcal4 A G 4: 123,084,532 (GRCm39) I154V probably benign Het
Itgb1 A G 8: 129,452,519 (GRCm39) D728G probably damaging Het
Kdm5d A T Y: 927,753 (GRCm39) D701V probably damaging Het
Kif18a A G 2: 109,133,227 (GRCm39) K448E probably damaging Het
Kif26a T C 12: 112,140,292 (GRCm39) F507S possibly damaging Het
Kmt2c C T 5: 25,520,003 (GRCm39) G2036R probably damaging Het
Lrrc43 T A 5: 123,630,276 (GRCm39) probably benign Het
Map3k20 T C 2: 72,219,836 (GRCm39) I256T probably damaging Het
Med29 T A 7: 28,092,130 (GRCm39) probably benign Het
Mob3b A G 4: 34,954,026 (GRCm39) C215R probably damaging Het
Mtf2 T C 5: 108,235,936 (GRCm39) Y87H probably damaging Het
Myo18a G A 11: 77,744,140 (GRCm39) R1834K probably damaging Het
Nlrc4 T A 17: 74,748,903 (GRCm39) D779V probably damaging Het
Or51q1c T C 7: 103,652,518 (GRCm39) F18S probably damaging Het
Otud3 T C 4: 138,625,329 (GRCm39) T242A probably damaging Het
Pcare A T 17: 72,057,373 (GRCm39) F768Y probably damaging Het
Pnliprp1 T A 19: 58,720,574 (GRCm39) M150K possibly damaging Het
Polm T A 11: 5,784,776 (GRCm39) Q227L probably benign Het
Poln A G 5: 34,280,016 (GRCm39) V282A probably benign Het
Ppfia2 T A 10: 106,751,533 (GRCm39) probably null Het
Rad51 T G 2: 118,954,295 (GRCm39) M168R probably benign Het
Senp2 A G 16: 21,846,792 (GRCm39) T266A probably benign Het
Sfswap A G 5: 129,616,758 (GRCm39) T401A probably benign Het
Slc40a1 A G 1: 45,963,921 (GRCm39) S23P probably damaging Het
Spef2 T C 15: 9,614,295 (GRCm39) K1217R probably damaging Het
St18 A C 1: 6,880,909 (GRCm39) probably benign Het
Tdrd6 T C 17: 43,939,218 (GRCm39) D610G possibly damaging Het
Tmem163 C A 1: 127,479,108 (GRCm39) R137L probably damaging Het
Tmem94 T A 11: 115,685,574 (GRCm39) D942E probably damaging Het
Ttn T A 2: 76,580,754 (GRCm39) I23380F possibly damaging Het
Uckl1 T A 2: 181,212,393 (GRCm39) probably null Het
Vav2 T C 2: 27,208,976 (GRCm39) D99G possibly damaging Het
Vmn2r30 T A 7: 7,337,259 (GRCm39) I126F probably benign Het
Zbtb41 A T 1: 139,351,301 (GRCm39) Q138L probably benign Het
Zfp599 T C 9: 22,169,361 (GRCm39) Y37C probably damaging Het
Zfp784 T A 7: 5,038,782 (GRCm39) T259S possibly damaging Het
Zfp954 T C 7: 7,118,837 (GRCm39) S236G probably benign Het
Zng1 A G 19: 24,925,458 (GRCm39) V166A possibly 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
R1586:Slc35a4 UTSW 18 36,816,058 (GRCm39) missense probably benign
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'- GGAAGCACAGCTCTATTGTACTGCC -3'
(R):5'- TGACTGCTTGGTTCAGCACCAC -3'

Sequencing Primer
(F):5'- CGCTGCTGCTGCTGATG -3'
(R):5'- GTTCAGCACCACAAGCACTG -3'
Posted On 2014-05-14