Incidental Mutation 'R6729:Slc35f4'
ID 529986
Institutional Source Beutler Lab
Gene Symbol Slc35f4
Ensembl Gene ENSMUSG00000021852
Gene Name solute carrier family 35, member F4
Synonyms 4930550L21Rik
MMRRC Submission 044847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R6729 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 49535976-49763354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 49556417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 112 (N112T)
Ref Sequence ENSEMBL: ENSMUSP00000154089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074368] [ENSMUST00000123534] [ENSMUST00000138884] [ENSMUST00000146164]
AlphaFold Q8BZK4
Predicted Effect probably benign
Transcript: ENSMUST00000074368
AA Change: N112T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: N112T

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
transmembrane domain 123 145 N/A INTRINSIC
transmembrane domain 160 182 N/A INTRINSIC
Pfam:SLC35F 216 435 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123534
AA Change: N112T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: N112T

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
transmembrane domain 123 145 N/A INTRINSIC
transmembrane domain 160 182 N/A INTRINSIC
transmembrane domain 217 234 N/A INTRINSIC
transmembrane domain 239 261 N/A INTRINSIC
transmembrane domain 274 296 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135254
Predicted Effect probably benign
Transcript: ENSMUST00000138884
SMART Domains Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852

DomainStartEndE-ValueType
Pfam:EmrE 18 143 1e-12 PFAM
Pfam:EamA 57 135 8.4e-9 PFAM
Pfam:DUF914 68 314 4.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146164
AA Change: N112T

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 A T 5: 121,745,998 (GRCm39) H230Q probably damaging Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ank3 T C 10: 69,644,755 (GRCm39) V73A probably damaging Het
Apbb1 A T 7: 105,214,588 (GRCm39) M28K probably damaging Het
Atp6v1f A G 6: 29,467,964 (GRCm39) D50G probably benign Het
Bltp3b T A 10: 89,641,546 (GRCm39) S906T probably benign Het
Cdkal1 G A 13: 29,658,678 (GRCm39) T356M probably damaging Het
Clca3a1 A G 3: 144,711,727 (GRCm39) I756T probably damaging Het
Cplane1 T C 15: 8,218,085 (GRCm39) probably null Het
Cyp17a1 A G 19: 46,659,020 (GRCm39) V207A probably benign Het
Dnah7c A G 1: 46,711,681 (GRCm39) E2636G possibly damaging Het
Gm13090 A T 4: 151,174,085 (GRCm39) probably benign Het
Nceh1 T A 3: 27,295,420 (GRCm39) L227* probably null Het
Nedd9 A G 13: 41,469,278 (GRCm39) M625T probably damaging Het
Or10n1 A T 9: 39,525,069 (GRCm39) M69L probably benign Het
Or4d1 G A 11: 87,805,676 (GRCm39) Q19* probably null Het
Or4d10c T A 19: 12,065,860 (GRCm39) M99L probably benign Het
Or8b53 A G 9: 38,667,124 (GRCm39) I47V probably benign Het
Pcsk4 T C 10: 80,160,935 (GRCm39) N297S probably damaging Het
Psg21 T A 7: 18,386,516 (GRCm39) I157F probably damaging Het
Rabep2 T C 7: 126,039,369 (GRCm39) V294A probably benign Het
Rsph1 A G 17: 31,496,226 (GRCm39) S2P unknown Het
Sacs A G 14: 61,447,967 (GRCm39) K3338E probably damaging Het
Slc43a3 T C 2: 84,768,629 (GRCm39) F83L probably damaging Het
Slc6a15 T C 10: 103,229,775 (GRCm39) V154A probably damaging Het
Synj2 T A 17: 6,036,289 (GRCm39) M1K probably null Het
Tcp1 G A 17: 13,142,140 (GRCm39) R378Q probably damaging Het
Tead2 A G 7: 44,866,658 (GRCm39) T6A probably benign Het
Tpte G T 8: 22,845,491 (GRCm39) V514L probably damaging Het
Trpm6 A G 19: 18,807,661 (GRCm39) N1069D probably damaging Het
Vmn2r105 C A 17: 20,428,605 (GRCm39) G824C probably damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp934 A T 13: 62,640,746 (GRCm39) N2K probably damaging Het
Other mutations in Slc35f4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Slc35f4 APN 14 49,536,334 (GRCm39) missense probably benign 0.15
IGL01640:Slc35f4 APN 14 49,556,225 (GRCm39) missense probably damaging 0.99
IGL01942:Slc35f4 APN 14 49,762,962 (GRCm39) splice site probably benign
IGL01990:Slc35f4 APN 14 49,541,626 (GRCm39) critical splice donor site probably null
IGL02097:Slc35f4 APN 14 49,543,703 (GRCm39) missense probably damaging 1.00
IGL02803:Slc35f4 APN 14 49,541,714 (GRCm39) missense probably benign 0.00
R0005:Slc35f4 UTSW 14 49,559,943 (GRCm39) splice site probably benign
R0238:Slc35f4 UTSW 14 49,541,713 (GRCm39) missense possibly damaging 0.78
R0238:Slc35f4 UTSW 14 49,541,713 (GRCm39) missense possibly damaging 0.78
R0239:Slc35f4 UTSW 14 49,541,713 (GRCm39) missense possibly damaging 0.78
R0239:Slc35f4 UTSW 14 49,541,713 (GRCm39) missense possibly damaging 0.78
R0764:Slc35f4 UTSW 14 49,543,796 (GRCm39) splice site probably benign
R1884:Slc35f4 UTSW 14 49,551,091 (GRCm39) missense probably damaging 1.00
R1916:Slc35f4 UTSW 14 49,541,380 (GRCm39) intron probably benign
R2047:Slc35f4 UTSW 14 49,541,029 (GRCm39) intron probably benign
R2239:Slc35f4 UTSW 14 49,543,660 (GRCm39) critical splice donor site probably null
R2380:Slc35f4 UTSW 14 49,543,660 (GRCm39) critical splice donor site probably null
R4273:Slc35f4 UTSW 14 49,541,758 (GRCm39) missense possibly damaging 0.81
R4420:Slc35f4 UTSW 14 49,551,034 (GRCm39) unclassified probably benign
R4425:Slc35f4 UTSW 14 49,556,307 (GRCm39) missense possibly damaging 0.85
R5261:Slc35f4 UTSW 14 49,540,946 (GRCm39) intron probably benign
R5398:Slc35f4 UTSW 14 49,536,304 (GRCm39) missense probably damaging 1.00
R5402:Slc35f4 UTSW 14 49,556,331 (GRCm39) missense probably damaging 1.00
R6310:Slc35f4 UTSW 14 49,559,914 (GRCm39) missense probably damaging 1.00
R6596:Slc35f4 UTSW 14 49,763,057 (GRCm39) missense probably damaging 1.00
R6864:Slc35f4 UTSW 14 49,556,310 (GRCm39) missense possibly damaging 0.55
R7427:Slc35f4 UTSW 14 49,536,355 (GRCm39) missense probably damaging 0.99
R7428:Slc35f4 UTSW 14 49,536,355 (GRCm39) missense probably damaging 0.99
R7559:Slc35f4 UTSW 14 49,541,732 (GRCm39) missense probably benign 0.03
R7596:Slc35f4 UTSW 14 49,543,666 (GRCm39) missense probably damaging 1.00
R7722:Slc35f4 UTSW 14 49,543,731 (GRCm39) missense probably benign 0.22
R8263:Slc35f4 UTSW 14 49,551,084 (GRCm39) missense probably damaging 1.00
R8525:Slc35f4 UTSW 14 49,541,681 (GRCm39) missense possibly damaging 0.56
R9198:Slc35f4 UTSW 14 49,556,377 (GRCm39) missense unknown
R9615:Slc35f4 UTSW 14 49,556,306 (GRCm39) missense probably benign 0.00
R9751:Slc35f4 UTSW 14 49,536,291 (GRCm39) missense possibly damaging 0.49
R9772:Slc35f4 UTSW 14 49,551,175 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTAGATGGCCGGAATAAT -3'
(R):5'- GATCATTGTTCTCTTCTGGTGCTAA -3'

Sequencing Primer
(F):5'- CTAGATGGCCGGAATAATAGACTG -3'
(R):5'- ACACATCTGACTGCTCCT -3'
Posted On 2018-08-01