Incidental Mutation 'RF006:Slc9b1'
ID 602809
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # RF006 (G1)
Quality Score 146.457
Status Not validated
Chromosome 3
Chromosomal Location 135053790-135103588 bp(+) (GRCm39)
Type of Mutation small deletion (10 aa in frame mutation)
DNA Base Change (assembly) CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG to CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG at 135063303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078568] [ENSMUST00000159658]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000078568
SMART Domains Protein: ENSMUSP00000077644
Gene: ENSMUSG00000050150

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 benign
Transcript: ENSMUST00000159658
SMART Domains Protein: ENSMUSP00000124452
Gene: ENSMUSG00000050150

DomainStartEndE-ValueType
low complexity region 10 83 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 97% (36/37)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd7 GTT GT 2: 3,341,736 (GRCm39) probably null Het
Acp7 A T 7: 28,314,204 (GRCm39) N330K possibly damaging Het
Adam25 A T 8: 41,208,834 (GRCm39) H700L probably benign Het
Alg9 GGGTGG GGGTGGTGG 9: 50,686,717 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,362,070 (GRCm39) V689E probably benign Het
Atxn2l A G 7: 126,095,063 (GRCm39) V533A probably benign Het
Catsperb G A 12: 101,542,238 (GRCm39) probably null Het
Ccdc121 C T 5: 31,644,894 (GRCm39) Q216* probably null Het
Ccdc13 T C 9: 121,643,273 (GRCm39) K376R probably damaging Het
Ccdc170 C CCAA 10: 4,511,030 (GRCm39) probably benign Het
Cdh9 G C 15: 16,855,916 (GRCm39) R652P probably damaging Het
Cenpf A C 1: 189,389,583 (GRCm39) C1416W probably damaging Het
Chga GCA GCATCA 12: 102,527,671 (GRCm39) probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGAAG TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG 9: 86,922,478 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGAGAGACACGCTGGCCAGGGA 9: 86,922,494 (GRCm39) probably benign Het
Dennd3 T C 15: 73,419,441 (GRCm39) I744T probably damaging Het
Dnah1 C T 14: 31,029,832 (GRCm39) R491Q probably benign Het
Eif4a2 A T 16: 22,929,028 (GRCm39) M188L possibly damaging Het
Esf1 CTCCTCTTC CTC 2: 140,006,294 (GRCm39) probably benign Het
Fat3 T C 9: 15,909,913 (GRCm39) I2030V probably benign Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Gins4 A T 8: 23,717,183 (GRCm39) V195E possibly damaging Het
Gm17402 TCCTCCTCC TCCTCCTCCCCCTCCTCC 3: 67,272,892 (GRCm39) probably benign Het
Gm17604 CTCTCTTTC CTC X: 163,786,814 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,489,128 (GRCm39) probably benign Het
Gnpnat1 T A 14: 45,620,900 (GRCm39) probably null Het
Inpp4a A C 1: 37,427,908 (GRCm39) N651T possibly damaging Het
Ireb2 T C 9: 54,788,768 (GRCm39) F81L possibly damaging Het
Kcnh3 T A 15: 99,137,809 (GRCm39) probably null Het
Kmt2b CTCCTC CTCCTCATCCTC 7: 30,285,802 (GRCm39) probably benign Het
Kmt2c TG TGCTGTGG 5: 25,520,770 (GRCm39) probably benign Het
Myt1 T C 2: 181,439,566 (GRCm39) S405P probably damaging Het
Net1 T C 13: 3,937,406 (GRCm39) T245A probably benign Het
Nkx2-1 T C 12: 56,580,332 (GRCm39) T203A probably damaging Het
Oas3 T C 5: 120,912,165 (GRCm39) E75G probably damaging Het
Pappa T A 4: 65,242,110 (GRCm39) D1491E probably benign Het
Pkhd1l1 C A 15: 44,366,634 (GRCm39) T704K probably benign Het
Pkhd1l1 TT TTTTTTTTTGT 15: 44,421,903 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,234,702 (GRCm39) I146F possibly damaging Het
Ppp1r8 TCTCTCAC TC 4: 132,557,928 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,600 (GRCm39) I157F probably benign Het
Pramel34 A T 5: 93,784,562 (GRCm39) C301S probably benign Het
Rspo4 C T 2: 151,709,797 (GRCm39) probably null Het
Rtn4 T C 11: 29,656,919 (GRCm39) S358P possibly damaging Het
Siglecg T A 7: 43,058,288 (GRCm39) Y58* probably null Het
Slc4a1 C T 11: 102,247,542 (GRCm39) probably null Het
Smc2 T A 4: 52,442,276 (GRCm39) D64E probably benign Het
Spaca1 CTCGC CTCGCTATCGC 4: 34,049,853 (GRCm39) probably benign Het
Srrm2 A G 17: 24,031,562 (GRCm39) S236G unknown Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Strn TGCTCCCTTACCCCAGTC TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC 17: 78,984,700 (GRCm39) probably null Het
Tfeb CAG CAGGAG 17: 48,097,038 (GRCm39) probably benign Het
Tktl2 A T 8: 66,965,504 (GRCm39) E354V probably benign Het
Tpte A G 8: 22,796,959 (GRCm39) T94A probably benign Het
Usp40 A C 1: 87,894,917 (GRCm39) S868A possibly damaging Het
Vmn2r24 G A 6: 123,783,378 (GRCm39) C526Y probably damaging Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null 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
R3159: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
Predicted Primers PCR Primer
(F):5'- CGGGTGCATTAATATGGGGC -3'
(R):5'- GGAGGACAGTAACTATTTGTCCC -3'

Sequencing Primer
(F):5'- AGGGCATCGGATTCCATTAC -3'
(R):5'- GACAGTAACTATTTGTCCCTCTCTTC -3'
Posted On 2019-12-04