Incidental Mutation 'R7403:Slc17a1'
ID574363
Institutional Source Beutler Lab
Gene Symbol Slc17a1
Ensembl Gene ENSMUSG00000021335
Gene Namesolute carrier family 17 (sodium phosphate), member 1
SynonymsNpt1, NAPI-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R7403 (G1)
Quality Score225.009
Status Not validated
Chromosome13
Chromosomal Location23867750-23895730 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23874707 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 48 (N48S)
Ref Sequence ENSEMBL: ENSMUSP00000006785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006785] [ENSMUST00000110413] [ENSMUST00000130211]
Predicted Effect probably benign
Transcript: ENSMUST00000006785
AA Change: N48S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006785
Gene: ENSMUSG00000021335
AA Change: N48S

DomainStartEndE-ValueType
Pfam:MFS_1 24 412 2.7e-48 PFAM
transmembrane domain 430 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110413
AA Change: N48S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106043
Gene: ENSMUSG00000021335
AA Change: N48S

DomainStartEndE-ValueType
Pfam:MFS_1 24 412 3.1e-48 PFAM
transmembrane domain 430 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130211
AA Change: N48S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120824
Gene: ENSMUSG00000021335
AA Change: N48S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appl2 G A 10: 83,614,195 A271V probably benign Het
Brpf3 C T 17: 28,821,356 T917I probably benign Het
Camta1 G A 4: 151,453,295 Q143* probably null Het
Ccdc129 T A 6: 55,976,414 L905* probably null Het
Cd3e C A 9: 45,002,292 E48D probably benign Het
Clca3b A G 3: 144,823,498 L805P probably benign Het
Crispld1 A G 1: 17,747,596 Y241C probably damaging Het
Ddx43 T G 9: 78,413,851 N380K probably damaging Het
Dtl A T 1: 191,563,173 V155E probably damaging Het
Elp2 A G 18: 24,619,485 H365R probably damaging Het
Fam126b A T 1: 58,548,702 D117E possibly damaging Het
Fam78a T C 2: 32,069,615 N161S probably damaging Het
Far2 T C 6: 148,158,977 I276T possibly damaging Het
Frem3 T C 8: 80,616,145 L1689P probably damaging Het
Gak T C 5: 108,613,535 K210R probably benign Het
Gm21319 G T 12: 87,773,544 Q82K probably benign Het
Gna14 G T 19: 16,599,081 D151Y Het
Hdhd2 A G 18: 76,955,040 D55G probably benign Het
Ifna5 A G 4: 88,835,873 N117D probably benign Het
Ikbkap A T 4: 56,778,994 C608S probably damaging Het
Il16 T A 7: 83,670,135 T383S probably damaging Het
Il1f5 T C 2: 24,281,202 F101L probably damaging Het
Ino80d A G 1: 63,062,219 V416A possibly damaging Het
Ints6 T C 14: 62,707,655 R409G possibly damaging Het
Itgb5 G T 16: 33,902,793 probably null Het
Kcnq3 T A 15: 66,002,217 R561W probably damaging Het
Kdelc2 T A 9: 53,390,441 V131E probably damaging Het
Lipo4 C T 19: 33,503,279 E230K possibly damaging Het
Lrrc7 A T 3: 158,148,674 L1299* probably null Het
Mcm3ap T C 10: 76,482,823 probably null Het
Mok A T 12: 110,815,129 probably null Het
Mylk2 T A 2: 152,917,341 V344E probably damaging Het
Oacyl T C 18: 65,737,895 V389A probably benign Het
Olfr284 T C 15: 98,340,119 Y290C probably damaging Het
Olfr335-ps T C 2: 36,302,330 F264L probably benign Het
Oplah T C 15: 76,305,009 D278G probably benign Het
Padi3 T C 4: 140,800,119 N124D probably benign Het
Parp3 T C 9: 106,474,853 S107G probably benign Het
Pcdhb18 G A 18: 37,491,897 G760D probably benign Het
Plekhh1 G A 12: 79,040,577 W13* probably null Het
Pou2f1 C T 1: 165,911,386 A166T unknown Het
Ppp1r10 C T 17: 35,929,434 P539S probably benign Het
Prdm11 T C 2: 92,986,691 T310A probably benign Het
Rbm25 A G 12: 83,676,134 Y777C probably damaging Het
Relt A T 7: 100,851,448 C72S probably damaging Het
Rhag T A 17: 40,834,658 I334N probably damaging Het
Rhbdf2 A C 11: 116,600,419 L630R probably damaging Het
Rnps1 T C 17: 24,425,087 S274P unknown Het
Rtkn2 A G 10: 68,005,636 I205V probably benign Het
Ryr1 A T 7: 29,013,867 V4690E probably benign Het
Secisbp2l T C 2: 125,760,279 Y387C possibly damaging Het
Sema3d A T 5: 12,497,584 I158F probably damaging Het
Slc2a1 G A 4: 119,132,555 G130S probably damaging Het
Slc6a3 T C 13: 73,562,427 probably null Het
Snx27 A T 3: 94,528,926 S261T probably damaging Het
Spag17 A T 3: 99,939,375 I72F possibly damaging Het
Spink6 T G 18: 44,071,497 L10R unknown Het
Swt1 G A 1: 151,388,693 T690I probably benign Het
Syne2 G A 12: 75,915,246 E729K not run Het
Synj2 C T 17: 6,037,730 T1352M possibly damaging Het
Taar4 G A 10: 23,961,059 G189D probably damaging Het
Thsd4 T C 9: 60,056,887 N441D probably damaging Het
Tm9sf2 A G 14: 122,141,228 D248G probably benign Het
Tmem69 A T 4: 116,553,467 L102Q probably damaging Het
Tshr A G 12: 91,497,774 Y98C probably damaging Het
Tspan1 A G 4: 116,163,022 V230A probably benign Het
Upk3a T C 15: 85,019,508 V136A possibly damaging Het
Ush2a T A 1: 188,633,727 N2259K probably damaging Het
Usp24 A G 4: 106,407,035 D1721G possibly damaging Het
Vldlr T A 19: 27,236,274 C120* probably null Het
Vmn2r23 A T 6: 123,704,579 I149L probably benign Het
Vps8 A T 16: 21,434,972 E21V possibly damaging Het
Wdr35 A G 12: 9,012,685 I635V probably damaging Het
Zfp955a T C 17: 33,243,746 D58G probably benign Het
Zkscan5 A G 5: 145,218,593 Q358R 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
R1077:Slc17a1 UTSW 13 23878450 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
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'- GTATATCTAGGGTTGCAAATACCTG -3'
(R):5'- CCAGAAAGGTTTCAAATCCTTTCG -3'

Sequencing Primer
(F):5'- GGGTTGCAAATACCTGAATTTTTAC -3'
(R):5'- TGTAGGTCATCCCAGCAAGTCAG -3'
Posted On2019-09-13