Incidental Mutation 'R1077:Slc17a1'
ID85701
Institutional Source Beutler Lab
Gene Symbol Slc17a1
Ensembl Gene ENSMUSG00000021335
Gene Namesolute carrier family 17 (sodium phosphate), member 1
SynonymsNpt1, NAPI-1
MMRRC Submission 039163-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #R1077 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location23867750-23895730 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 23878450 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006785] [ENSMUST00000110413] [ENSMUST00000130211]
Predicted Effect probably benign
Transcript: ENSMUST00000006785
SMART Domains Protein: ENSMUSP00000006785
Gene: ENSMUSG00000021335

DomainStartEndE-ValueType
Pfam:MFS_1 24 412 2.7e-48 PFAM
transmembrane domain 430 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110413
SMART Domains Protein: ENSMUSP00000106043
Gene: ENSMUSG00000021335

DomainStartEndE-ValueType
Pfam:MFS_1 24 412 3.1e-48 PFAM
transmembrane domain 430 449 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129042
Predicted Effect probably benign
Transcript: ENSMUST00000130211
SMART Domains Protein: ENSMUSP00000120824
Gene: ENSMUSG00000021335

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,301,702 noncoding transcript Het
Apob A G 12: 8,006,017 K1500E probably benign Het
Atp8b1 A T 18: 64,573,262 Y225* probably null Het
Cdc25c A T 18: 34,748,973 probably benign Het
Ceacam15 T C 7: 16,672,075 N184D probably benign Het
Cntln T C 4: 84,996,479 S508P probably damaging Het
Dhx34 A G 7: 16,218,368 S111P probably damaging Het
Dst A G 1: 34,164,167 E759G probably damaging Het
Fis1 G A 5: 136,965,146 A28T probably damaging Het
Fsd1 T C 17: 55,990,542 probably null Het
Gm15293 T A 8: 21,202,433 F90Y probably benign Het
Grk6 T C 13: 55,454,527 probably null Het
Il23r A T 6: 67,473,810 H228Q probably benign Het
Kcnh4 C T 11: 100,752,338 V368I possibly damaging Het
Kdr T C 5: 75,956,231 E728G probably damaging Het
Krt33a T A 11: 100,015,937 M71L probably benign Het
Lrrc7 T G 3: 158,161,143 D987A probably damaging Het
Naalad2 C T 9: 18,347,506 R491Q probably damaging Het
Nedd4l A T 18: 65,167,499 probably benign Het
Pramel7 A G 2: 87,491,190 L167S probably damaging Het
Prkci A G 3: 31,050,192 D568G probably damaging Het
Psg18 G A 7: 18,351,075 T32I possibly damaging Het
Ric8b T A 10: 84,970,717 probably benign Het
Rnf213 T C 11: 119,485,998 probably benign Het
Rttn T C 18: 89,064,249 V1433A probably damaging Het
Sbf2 A T 7: 110,367,172 probably benign Het
Sdk2 C T 11: 113,838,646 silent Het
Sfta2 T C 17: 35,650,127 probably benign Het
Slc6a21 G A 7: 45,288,202 C314Y probably benign Het
Smpd4 T C 16: 17,623,969 V35A probably damaging Het
Sorl1 T C 9: 42,014,490 D1182G probably damaging Het
Syne2 A G 12: 76,042,035 I5056V possibly damaging Het
Tex14 T C 11: 87,519,745 probably benign Het
Tex44 A G 1: 86,427,055 T229A probably benign Het
Tfap2b T A 1: 19,234,149 C394* probably null Het
Ttk T A 9: 83,844,149 probably benign Het
Vmn2r26 G A 6: 124,053,913 V536I probably benign Het
Wac A G 18: 7,921,916 T553A probably damaging Het
Wdcp T A 12: 4,850,685 H180Q probably damaging Het
Wdr33 A G 18: 31,835,461 H235R probably benign Het
Other mutations in Slc17a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Slc17a1 APN 13 23878454 unclassified probably benign
IGL01453:Slc17a1 APN 13 23874731 missense probably damaging 0.99
IGL01560:Slc17a1 APN 13 23874629 missense probably damaging 0.99
IGL01910:Slc17a1 APN 13 23878457 unclassified probably benign
R1939:Slc17a1 UTSW 13 23875881 missense probably benign 0.05
R2016:Slc17a1 UTSW 13 23878539 missense probably benign 0.03
R2134:Slc17a1 UTSW 13 23875675 nonsense probably null
R3001:Slc17a1 UTSW 13 23878581 critical splice donor site probably null
R3002:Slc17a1 UTSW 13 23878581 critical splice donor site probably null
R4559:Slc17a1 UTSW 13 23878712 nonsense probably null
R4580:Slc17a1 UTSW 13 23887977 missense probably damaging 1.00
R4658:Slc17a1 UTSW 13 23878560 missense probably benign
R4696:Slc17a1 UTSW 13 23880717 missense probably damaging 1.00
R4716:Slc17a1 UTSW 13 23880593 missense probably benign 0.05
R4845:Slc17a1 UTSW 13 23876618 missense probably damaging 1.00
R4878:Slc17a1 UTSW 13 23880654 missense probably damaging 1.00
R5517:Slc17a1 UTSW 13 23872592 utr 5 prime probably benign
R6020:Slc17a1 UTSW 13 23875610 missense possibly damaging 0.70
R7403:Slc17a1 UTSW 13 23874707 missense probably benign
R7440:Slc17a1 UTSW 13 23878483 missense possibly damaging 0.62
R7747:Slc17a1 UTSW 13 23888052 missense probably benign 0.10
R8063:Slc17a1 UTSW 13 23875541 missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- GCTGTCTAGCTCTGTGAATGCTCAG -3'
(R):5'- TGGAGCAGAATCTAGAAGCTGCCC -3'

Sequencing Primer
(F):5'- CTAGTTGGATTAGGACAGACCATC -3'
(R):5'- TCTAGAAGCTGCCCAAAAGG -3'
Posted On2013-11-18