Incidental Mutation 'R1586:Slc35a4'
ID177534
Institutional Source Beutler Lab
Gene Symbol Slc35a4
Ensembl Gene ENSMUSG00000033272
Gene Namesolute carrier family 35, member A4
Synonyms
MMRRC Submission 039623-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #R1586 (G1)
Quality Score225
Status Validated
Chromosome18
Chromosomal Location36679215-36683861 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36683005 bp
ZygosityHeterozygous
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] [ENSMUST00000185899] [ENSMUST00000186538]
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: 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
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
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
1700022I11Rik A G 4: 42,971,512 I282V probably benign Het
9030624J02Rik T A 7: 118,809,972 I612N probably damaging Het
Abca2 C T 2: 25,447,216 A2361V probably damaging Het
Alpi A G 1: 87,100,201 I219T probably damaging Het
Anapc10 T A 8: 79,775,143 M180K probably benign Het
Ank3 A G 10: 69,877,878 I431V probably damaging Het
Anxa8 T A 14: 34,093,937 D182E probably damaging Het
Atp1a3 T A 7: 24,979,383 I945F probably damaging Het
Atp2a3 T C 11: 72,991,744 S1019P probably damaging Het
Cbs T A 17: 31,622,474 I258F probably damaging Het
Cic T C 7: 25,285,961 S277P probably damaging Het
Cidea T A 18: 67,360,160 V83E probably damaging Het
Cilp G A 9: 65,279,715 G1031S probably damaging Het
Clca3a2 A G 3: 144,810,716 I373T possibly damaging Het
Cpvl T A 6: 53,926,901 D293V probably damaging Het
Cryz A G 3: 154,611,510 N122S probably benign Het
Dmap1 T C 4: 117,676,122 E245G probably damaging Het
Epha2 C T 4: 141,318,605 probably benign Het
Fam222b C T 11: 78,154,521 L303F probably damaging Het
Fastkd1 T C 2: 69,712,148 D105G probably benign Het
Fat4 T A 3: 38,888,860 L634Q probably damaging Het
Fbxo10 A T 4: 45,042,036 I731N possibly damaging Het
Fig4 A G 10: 41,265,427 F279L probably damaging Het
Guk1 A G 11: 59,186,849 S22P probably damaging Het
Kmt2d A G 15: 98,865,053 probably benign Het
Macf1 A T 4: 123,509,846 S727T probably benign Het
Mgea5 T G 19: 45,776,910 T153P possibly damaging Het
Mki67 T A 7: 135,713,972 K54* probably null Het
Ms4a8a T C 19: 11,076,332 T137A possibly damaging Het
Myo5c T C 9: 75,267,031 Y557H probably damaging Het
Nav3 T A 10: 109,853,254 K387N probably damaging Het
Olfr1432 G T 19: 12,228,877 A223E probably damaging Het
Pde4c T A 8: 70,746,859 Y223N probably damaging Het
Psd T G 19: 46,314,798 E715A probably damaging Het
Rpl7 A T 1: 16,102,583 S171T probably benign Het
Rrm1 A G 7: 102,466,905 *66W probably null Het
Scgb1b3 T A 7: 31,375,963 H79Q probably damaging Het
Serpinb9 A T 13: 33,015,486 M255L probably benign Het
Smgc G A 15: 91,838,393 A9T possibly damaging Het
Snx11 C A 11: 96,770,696 W161L probably benign Het
Spag17 A G 3: 100,021,752 K533E possibly damaging Het
Speer4b A G 5: 27,497,013 S250P probably damaging Het
Spta1 A T 1: 174,213,495 H1287L probably benign Het
Surf2 T C 2: 26,919,755 F239S probably damaging Het
Tada1 G A 1: 166,386,750 R106H possibly damaging Het
Tbc1d22a C A 15: 86,351,651 probably null Het
Tbcd A G 11: 121,497,060 Q339R probably benign Het
Tdrd7 A G 4: 45,994,445 H281R probably benign Het
Tomm5 A G 4: 45,107,915 probably null Het
Ttc7 T C 17: 87,361,945 probably null Het
Ulk1 A T 5: 110,789,516 F638Y probably damaging Het
Wdr93 C A 7: 79,768,361 D277E probably damaging Het
Znrf3 T C 11: 5,281,477 R583G probably damaging Het
Zscan29 T A 2: 121,161,160 I716F probably damaging Het
Other mutations in Slc35a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Slc35a4 APN 18 36682447 missense probably damaging 0.99
R0980:Slc35a4 UTSW 18 36682781 missense probably damaging 1.00
R1723:Slc35a4 UTSW 18 36682735 missense possibly damaging 0.61
R3827:Slc35a4 UTSW 18 36682988 missense probably damaging 0.99
R5180:Slc35a4 UTSW 18 36682635 missense probably benign
R5732:Slc35a4 UTSW 18 36682341 missense probably benign 0.05
R7101:Slc35a4 UTSW 18 36681538 missense probably damaging 0.99
R7257:Slc35a4 UTSW 18 36679616 missense unknown
R7402:Slc35a4 UTSW 18 36680517 missense unknown
R7606:Slc35a4 UTSW 18 36682585 missense probably benign 0.01
R8299:Slc35a4 UTSW 18 36682927 missense possibly damaging 0.89
Z1088:Slc35a4 UTSW 18 36683093 makesense probably null
Z1176:Slc35a4 UTSW 18 36682763 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 On2014-04-24