Incidental Mutation 'R5381:Slc9a1'
ID 424706
Institutional Source Beutler Lab
Gene Symbol Slc9a1
Ensembl Gene ENSMUSG00000028854
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 1
Synonyms Nhe-1, Nhe1, antiporter, Apnh
MMRRC Submission 042956-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5381 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 133097022-133151013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133149382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 736 (L736Q)
Ref Sequence ENSEMBL: ENSMUSP00000030669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030669]
AlphaFold Q61165
Predicted Effect probably damaging
Transcript: ENSMUST00000030669
AA Change: L736Q

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: L736Q

DomainStartEndE-ValueType
transmembrane domain 15 33 N/A INTRINSIC
Pfam:Na_H_Exchanger 109 509 1.3e-89 PFAM
Pfam:NEXCaM_BD 603 704 1.5e-34 PFAM
low complexity region 757 764 N/A INTRINSIC
low complexity region 803 814 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156079
Meta Mutation Damage Score 0.0745 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]
PHENOTYPE: Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(6) Spontaneous(1)

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik G T 11: 65,044,137 (GRCm39) S19* probably null Het
4930432E11Rik A T 7: 29,262,393 (GRCm39) noncoding transcript Het
Acvr1c T C 2: 58,177,747 (GRCm39) T241A probably damaging Het
Ankmy1 T C 1: 92,804,284 (GRCm39) T900A probably benign Het
Anp32a A C 9: 62,279,459 (GRCm39) E107A probably damaging Het
Arhgef40 T C 14: 52,229,306 (GRCm39) I623T probably damaging Het
Camsap3 T A 8: 3,653,812 (GRCm39) I483N probably damaging Het
Card9 G A 2: 26,248,895 (GRCm39) L85F probably damaging Het
Cbfa2t2 T G 2: 154,365,849 (GRCm39) V353G probably damaging Het
Ccdc166 A T 15: 75,852,701 (GRCm39) L422* probably null Het
Ccdc198 T C 14: 49,470,364 (GRCm39) D185G probably damaging Het
Ccdc73 A T 2: 104,820,270 (GRCm39) N416Y probably damaging Het
Celsr2 A T 3: 108,310,073 (GRCm39) D1552E probably damaging Het
Ces1b A T 8: 93,791,647 (GRCm39) N317K probably benign Het
Col6a3 T C 1: 90,703,334 (GRCm39) R2471G unknown Het
Crocc C T 4: 140,756,622 (GRCm39) R1165H possibly damaging Het
Csmd3 T A 15: 47,604,611 (GRCm39) Y1955F probably benign Het
Ctbp1 A T 5: 33,407,034 (GRCm39) D232E probably benign Het
Cuedc1 T A 11: 88,078,812 (GRCm39) probably null Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dusp6 G A 10: 99,102,129 (GRCm39) V226I possibly damaging Het
Gpr152 A G 19: 4,192,516 (GRCm39) E19G probably damaging Het
Ighv16-1 T C 12: 114,032,593 (GRCm39) T70A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Il12b C A 11: 44,298,699 (GRCm39) D51E possibly damaging Het
Il9r T G 11: 32,140,715 (GRCm39) D435A probably benign Het
Jakmip2 T C 18: 43,715,025 (GRCm39) D167G probably damaging Het
Klrd1 A G 6: 129,572,397 (GRCm39) D63G possibly damaging Het
Lactb A G 9: 66,863,297 (GRCm39) L439P probably damaging Het
Laptm5 T C 4: 130,660,969 (GRCm39) probably benign Het
Lgals1 A G 15: 78,814,223 (GRCm39) D96G probably benign Het
Lrp8 A T 4: 107,726,307 (GRCm39) H871L probably damaging Het
Mfap4 A T 11: 61,378,756 (GRCm39) I235F probably benign Het
Muc6 G A 7: 141,217,836 (GRCm39) T2279I possibly damaging Het
Nlrp4b T A 7: 10,449,172 (GRCm39) Y91* probably null Het
Osbp2 A G 11: 3,655,593 (GRCm39) Y383H probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Palb2 G T 7: 121,727,636 (GRCm39) T78K probably benign Het
Panx2 G T 15: 88,944,433 (GRCm39) V53L probably damaging Het
Pip4p1 T C 14: 51,166,495 (GRCm39) E161G probably benign Het
Pitx1 T C 13: 55,973,892 (GRCm39) Y313C probably damaging Het
Pjvk A G 2: 76,481,904 (GRCm39) probably null Het
Pnldc1 T G 17: 13,109,283 (GRCm39) K439T probably benign Het
Ppp4r4 A C 12: 103,559,357 (GRCm39) T513P probably benign Het
Pram1 A T 17: 33,860,600 (GRCm39) Q389L probably damaging Het
Prg4 T C 1: 150,330,204 (GRCm39) probably benign Het
Prkch C A 12: 73,738,366 (GRCm39) R158S probably damaging Het
Ptpn7 A T 1: 135,070,906 (GRCm39) M332L probably damaging Het
Rad51c A T 11: 87,288,459 (GRCm39) D241E probably benign Het
Rara T G 11: 98,862,410 (GRCm39) I270M possibly damaging Het
Ryr2 T A 13: 11,571,544 (GRCm39) D4898V probably damaging Het
Sec31b C T 19: 44,522,810 (GRCm39) G218S probably damaging Het
Slco2a1 A T 9: 102,945,213 (GRCm39) D196V probably damaging Het
Sp3 C A 2: 72,800,910 (GRCm39) A368S probably benign Het
Stk24 A T 14: 121,531,645 (GRCm39) L337Q possibly damaging Het
Tbc1d13 A G 2: 30,027,379 (GRCm39) T96A probably benign Het
Tm2d3 G A 7: 65,351,420 (GRCm39) G225S probably damaging Het
Urb2 T C 8: 124,756,651 (GRCm39) V786A probably benign Het
Usp32 C T 11: 84,949,953 (GRCm39) probably benign Het
Usp54 C T 14: 20,636,144 (GRCm39) G300D probably damaging Het
Vmn1r124 T A 7: 20,994,323 (GRCm39) N74Y probably damaging Het
Vmn1r77 T A 7: 11,775,952 (GRCm39) C175S probably damaging Het
Vmn2r62 G T 7: 42,437,219 (GRCm39) Q422K probably benign Het
Vmn2r76 A G 7: 85,874,496 (GRCm39) F827S probably damaging Het
Vps52 A G 17: 34,177,275 (GRCm39) S106G possibly damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zic2 A G 14: 122,713,227 (GRCm39) N47S probably damaging Het
Other mutations in Slc9a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Slc9a1 APN 4 133,097,859 (GRCm39) missense probably benign 0.03
IGL00949:Slc9a1 APN 4 133,143,762 (GRCm39) missense probably benign 0.03
IGL00952:Slc9a1 APN 4 133,143,693 (GRCm39) missense probably damaging 0.99
IGL01023:Slc9a1 APN 4 133,149,454 (GRCm39) missense probably benign 0.04
IGL01151:Slc9a1 APN 4 133,139,300 (GRCm39) missense probably damaging 1.00
IGL01796:Slc9a1 APN 4 133,147,404 (GRCm39) splice site probably benign
IGL01896:Slc9a1 APN 4 133,145,370 (GRCm39) missense probably damaging 1.00
IGL02621:Slc9a1 APN 4 133,097,879 (GRCm39) missense probably benign
F6893:Slc9a1 UTSW 4 133,149,457 (GRCm39) missense probably benign 0.06
R0123:Slc9a1 UTSW 4 133,147,916 (GRCm39) missense probably benign 0.34
R0134:Slc9a1 UTSW 4 133,147,916 (GRCm39) missense probably benign 0.34
R0225:Slc9a1 UTSW 4 133,147,916 (GRCm39) missense probably benign 0.34
R0658:Slc9a1 UTSW 4 133,147,810 (GRCm39) splice site probably benign
R0759:Slc9a1 UTSW 4 133,143,714 (GRCm39) missense probably damaging 1.00
R0781:Slc9a1 UTSW 4 133,097,859 (GRCm39) missense probably benign 0.03
R1110:Slc9a1 UTSW 4 133,097,859 (GRCm39) missense probably benign 0.03
R1316:Slc9a1 UTSW 4 133,149,558 (GRCm39) missense possibly damaging 0.95
R1637:Slc9a1 UTSW 4 133,149,534 (GRCm39) missense probably benign
R1680:Slc9a1 UTSW 4 133,145,391 (GRCm39) missense probably damaging 1.00
R2050:Slc9a1 UTSW 4 133,143,645 (GRCm39) missense probably benign 0.02
R4279:Slc9a1 UTSW 4 133,139,400 (GRCm39) missense probably benign 0.31
R4960:Slc9a1 UTSW 4 133,097,967 (GRCm39) missense probably damaging 1.00
R5590:Slc9a1 UTSW 4 133,148,874 (GRCm39) missense probably damaging 0.99
R5638:Slc9a1 UTSW 4 133,139,571 (GRCm39) missense probably damaging 1.00
R5935:Slc9a1 UTSW 4 133,147,176 (GRCm39) intron probably benign
R6334:Slc9a1 UTSW 4 133,149,519 (GRCm39) missense possibly damaging 0.64
R6402:Slc9a1 UTSW 4 133,097,962 (GRCm39) missense probably benign 0.37
R7553:Slc9a1 UTSW 4 133,139,580 (GRCm39) missense probably damaging 1.00
R7772:Slc9a1 UTSW 4 133,139,276 (GRCm39) missense probably damaging 1.00
R7843:Slc9a1 UTSW 4 133,097,753 (GRCm39) start gained probably benign
R8268:Slc9a1 UTSW 4 133,097,934 (GRCm39) missense probably benign 0.08
R8359:Slc9a1 UTSW 4 133,147,927 (GRCm39) missense probably damaging 1.00
R8398:Slc9a1 UTSW 4 133,146,814 (GRCm39) missense probably benign 0.05
R8887:Slc9a1 UTSW 4 133,139,258 (GRCm39) missense probably benign
R9310:Slc9a1 UTSW 4 133,143,681 (GRCm39) missense probably damaging 1.00
X0018:Slc9a1 UTSW 4 133,145,382 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCCAGAGACATGATTGCCTTC -3'
(R):5'- AGGCAGCGTTGTATTCTCTG -3'

Sequencing Primer
(F):5'- CCAGAGACATGATTGCCTTCATTGG -3'
(R):5'- CAGCGTTGTATTCTCTGGGAGC -3'
Posted On 2016-08-04