Incidental Mutation 'R3159:Slc9b1'
ID 258051
Institutional Source Beutler Lab
Gene Symbol Slc9b1
Ensembl Gene ENSMUSG00000050150
Gene Name solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1
Synonyms 1700094G20Rik, 4933425K02Rik, 4933424B12Rik, Nhedc1
MMRRC Submission 040610-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R3159 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 135053790-135103588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135077606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 100 (G100E)
Ref Sequence ENSEMBL: ENSMUSP00000124452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078568] [ENSMUST00000159658]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000078568
AA Change: G122E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077644
Gene: ENSMUSG00000050150
AA Change: G122E

DomainStartEndE-ValueType
low complexity region 32 105 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
Pfam:Na_H_Exchanger 148 542 4.7e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159658
AA Change: G100E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124452
Gene: ENSMUSG00000050150
AA Change: G100E

DomainStartEndE-ValueType
low complexity region 10 83 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160460
SMART Domains Protein: ENSMUSP00000124902
Gene: ENSMUSG00000050150

DomainStartEndE-ValueType
low complexity region 32 105 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
Pfam:Na_H_Exchanger 149 363 1.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162767
Meta Mutation Damage Score 0.2085 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bltp1 T C 3: 37,013,564 (GRCm39) V1931A probably benign Het
Ccdc146 T C 5: 21,604,790 (GRCm39) E16G unknown Het
Ccr4 G T 9: 114,321,350 (GRCm39) N238K probably benign Het
Cdk15 T C 1: 59,340,440 (GRCm39) I313T probably damaging Het
Celsr3 T C 9: 108,704,909 (GRCm39) V464A possibly damaging Het
Cfap54 T C 10: 92,834,918 (GRCm39) I1096V probably benign Het
Dmpk A G 7: 18,826,944 (GRCm39) T579A probably benign Het
Dscam T C 16: 96,479,710 (GRCm39) T1146A probably benign Het
Galnt12 A G 4: 47,104,264 (GRCm39) D174G probably damaging Het
Gm5145 A G 17: 20,791,155 (GRCm39) I178V probably benign Het
Gxylt1 A G 15: 93,142,913 (GRCm39) I384T probably benign Het
Hmgcr C T 13: 96,802,355 (GRCm39) V110I probably damaging Het
Hsd17b2 A C 8: 118,485,491 (GRCm39) D318A probably damaging Het
Ighv8-6 A G 12: 115,129,508 (GRCm39) S83P probably damaging Het
Isg20 C A 7: 78,564,201 (GRCm39) A36E possibly damaging Het
Jade3 A G X: 20,345,783 (GRCm39) K54E probably damaging Het
Mark1 A T 1: 184,640,584 (GRCm39) Y505N probably damaging Het
Mmp11 C T 10: 75,762,948 (GRCm39) probably benign Het
Myo1g G T 11: 6,464,527 (GRCm39) T511K possibly damaging Het
Ociad1 A T 5: 73,467,688 (GRCm39) R155* probably null Het
Or5t7 A G 2: 86,506,855 (GRCm39) I274T probably benign Het
Pcdha2 C T 18: 37,074,250 (GRCm39) T627I probably damaging Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Rbm48 A T 5: 3,646,105 (GRCm39) V33D possibly damaging Het
Rfx6 A T 10: 51,602,816 (GRCm39) R778W probably damaging Het
Sav1 A T 12: 70,031,326 (GRCm39) D65E probably benign Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Shank2 C A 7: 143,635,611 (GRCm39) N328K probably damaging Het
Slc8a3 C A 12: 81,361,766 (GRCm39) R351L probably damaging Het
Slit1 A G 19: 41,592,812 (GRCm39) Y1214H probably benign Het
Smu1 T A 4: 40,754,529 (GRCm39) R123S possibly damaging Het
Tgfb3 A T 12: 86,105,760 (GRCm39) W332R probably damaging Het
Tmem132a C T 19: 10,836,901 (GRCm39) W680* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav4-4-dv10 A T 14: 53,921,559 (GRCm39) K86* probably null Het
Zfp667 T C 7: 6,308,999 (GRCm39) C556R probably damaging Het
Zranb3 A G 1: 127,900,686 (GRCm39) I713T probably benign Het
Other mutations in Slc9b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01979:Slc9b1 APN 3 135,077,743 (GRCm39) splice site probably null
IGL02793:Slc9b1 APN 3 135,080,167 (GRCm39) unclassified probably benign
IGL02875:Slc9b1 APN 3 135,080,167 (GRCm39) unclassified probably benign
IGL02977:Slc9b1 APN 3 135,103,484 (GRCm39) missense probably damaging 1.00
IGL02990:Slc9b1 APN 3 135,100,744 (GRCm39) splice site probably null
IGL03112:Slc9b1 APN 3 135,103,433 (GRCm39) missense probably damaging 1.00
IGL03277:Slc9b1 APN 3 135,096,269 (GRCm39) missense possibly damaging 0.46
IGL03409:Slc9b1 APN 3 135,100,670 (GRCm39) missense probably damaging 0.99
R0190:Slc9b1 UTSW 3 135,063,434 (GRCm39) missense unknown
R0329:Slc9b1 UTSW 3 135,078,996 (GRCm39) nonsense probably null
R0591:Slc9b1 UTSW 3 135,088,593 (GRCm39) missense possibly damaging 0.88
R0592:Slc9b1 UTSW 3 135,099,835 (GRCm39) splice site probably benign
R0602:Slc9b1 UTSW 3 135,103,516 (GRCm39) missense probably benign 0.00
R0893:Slc9b1 UTSW 3 135,100,651 (GRCm39) missense probably benign 0.15
R1250:Slc9b1 UTSW 3 135,054,531 (GRCm39) start codon destroyed probably null
R1619:Slc9b1 UTSW 3 135,060,765 (GRCm39) splice site probably null
R1840:Slc9b1 UTSW 3 135,063,229 (GRCm39) missense unknown
R3157:Slc9b1 UTSW 3 135,077,606 (GRCm39) missense probably damaging 1.00
R4565:Slc9b1 UTSW 3 135,088,478 (GRCm39) missense probably damaging 1.00
R5138:Slc9b1 UTSW 3 135,063,534 (GRCm39) intron probably benign
R5154:Slc9b1 UTSW 3 135,078,940 (GRCm39) missense probably damaging 1.00
R5429:Slc9b1 UTSW 3 135,079,024 (GRCm39) critical splice donor site probably null
R5677:Slc9b1 UTSW 3 135,063,320 (GRCm39) missense unknown
R5903:Slc9b1 UTSW 3 135,098,655 (GRCm39) intron probably benign
R5933:Slc9b1 UTSW 3 135,099,756 (GRCm39) missense probably benign 0.30
R6593:Slc9b1 UTSW 3 135,063,219 (GRCm39) start codon destroyed probably null
R6667:Slc9b1 UTSW 3 135,077,726 (GRCm39) missense probably damaging 0.99
R6788:Slc9b1 UTSW 3 135,063,518 (GRCm39) splice site probably null
R7974:Slc9b1 UTSW 3 135,099,791 (GRCm39) missense possibly damaging 0.57
R8210:Slc9b1 UTSW 3 135,097,948 (GRCm39) missense probably damaging 1.00
R8276:Slc9b1 UTSW 3 135,077,658 (GRCm39) missense possibly damaging 0.63
R8988:Slc9b1 UTSW 3 135,078,900 (GRCm39) missense possibly damaging 0.69
R9102:Slc9b1 UTSW 3 135,100,725 (GRCm39) missense probably damaging 1.00
R9266:Slc9b1 UTSW 3 135,054,468 (GRCm39) intron probably benign
RF006:Slc9b1 UTSW 3 135,063,303 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TGGCTCCTTAAAATGCTTTCAG -3'
(R):5'- TATACTTACCAATGAGAGGTGGGAG -3'

Sequencing Primer
(F):5'- GTCCTATAAACTGATAGGGCCTCTG -3'
(R):5'- TGGGAGGGGAGGCACTAC -3'
Posted On 2015-01-23