Incidental Mutation 'V8831:Slc9c1'
ID 44637
Institutional Source Beutler Lab
Gene Symbol Slc9c1
Ensembl Gene ENSMUSG00000033210
Gene Name solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1
Synonyms LOC208169, Slc9a10, spermNHE
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # V8831 () of strain 710
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 45535309-45607001 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45577899 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 676 (I676F)
Ref Sequence ENSEMBL: ENSMUSP00000124969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159945]
AlphaFold Q6UJY2
Predicted Effect possibly damaging
Transcript: ENSMUST00000159945
AA Change: I676F

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: I676F

DomainStartEndE-ValueType
Pfam:Na_H_Exchanger 40 445 2.3e-31 PFAM
low complexity region 588 602 N/A INTRINSIC
transmembrane domain 635 654 N/A INTRINSIC
transmembrane domain 669 686 N/A INTRINSIC
transmembrane domain 691 713 N/A INTRINSIC
low complexity region 734 743 N/A INTRINSIC
cNMP 890 1026 4.99e-1 SMART
low complexity region 1161 1175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162151
Predicted Effect probably benign
Transcript: ENSMUST00000162774
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Homozygous null mice display male infertility and asthenozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsa1 A G 12: 87,269,923 (GRCm38) N107S probably damaging Het
Arhgap23 A G 11: 97,456,545 (GRCm38) I690V probably benign Het
Bard1 G A 1: 71,088,217 (GRCm38) P78S probably damaging Het
Ccar1 G A 10: 62,747,406 (GRCm38) T976I unknown Het
Cdc7 T A 5: 106,968,910 (GRCm38) N50K probably benign Het
Cep85 C T 4: 134,156,069 (GRCm38) E170K possibly damaging Het
Cpsf2 C T 12: 102,003,141 (GRCm38) R757C probably damaging Het
Csmd3 A T 15: 48,457,696 (GRCm38) D239E probably damaging Het
Dnah7b T G 1: 46,373,298 (GRCm38) Y4022* probably null Het
Elmo3 A G 8: 105,307,061 (GRCm38) N179S probably benign Het
H2-T24 T A 17: 36,017,324 (GRCm38) Q89L probably damaging Het
Hist1h2bj G C 13: 22,043,281 (GRCm38) probably benign Het
Irak4 T C 15: 94,561,484 (GRCm38) I327T probably damaging Het
Itpr2 A T 6: 146,385,882 (GRCm38) L157Q probably damaging Het
Lama1 G A 17: 67,752,883 (GRCm38) D656N probably benign Het
Lrrc72 G T 12: 36,208,657 (GRCm38) T67K possibly damaging Het
Map2 T G 1: 66,415,845 (GRCm38) I1298S probably damaging Het
Mroh2a T TN 1: 88,256,167 (GRCm38) probably null Het
Ndst1 G A 18: 60,702,927 (GRCm38) A428V probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Olfr1369-ps1 T C 13: 21,116,003 (GRCm38) Y104H possibly damaging Het
Olfr177 G T 16: 58,873,075 (GRCm38) T25K probably benign Het
Olfr481 C T 7: 108,081,535 (GRCm38) A247V probably benign Het
Plxna1 A G 6: 89,357,137 (GRCm38) V170A probably damaging Het
Rfx6 G A 10: 51,718,208 (GRCm38) probably null Het
Shprh G A 10: 11,186,862 (GRCm38) D1238N probably damaging Het
Slc15a2 A G 16: 36,772,445 (GRCm38) M179T probably benign Het
Smoc1 A G 12: 81,168,255 (GRCm38) D305G probably damaging Het
Spdef C T 17: 27,718,077 (GRCm38) R184H probably damaging Het
Stxbp4 C T 11: 90,480,671 (GRCm38) A535T probably benign Het
Tcp11l1 C G 2: 104,685,484 (GRCm38) V345L probably benign Het
Ticam1 TC T 17: 56,269,969 (GRCm38) 708 probably null Het
Ttc28 A T 5: 111,100,712 (GRCm38) Y177F probably benign Het
Ugt2b34 A T 5: 86,906,674 (GRCm38) Y83N probably benign Het
Vmn2r30 G A 7: 7,334,149 (GRCm38) R163C probably benign Het
Xirp1 T G 9: 120,016,907 (GRCm38) Q970P probably benign Het
Other mutations in Slc9c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Slc9c1 APN 16 45,573,389 (GRCm38) missense possibly damaging 0.93
IGL00510:Slc9c1 APN 16 45,539,639 (GRCm38) missense probably benign 0.00
IGL00949:Slc9c1 APN 16 45,593,358 (GRCm38) missense probably benign
IGL01287:Slc9c1 APN 16 45,584,448 (GRCm38) nonsense probably null
IGL01536:Slc9c1 APN 16 45,589,629 (GRCm38) critical splice donor site probably null
IGL01655:Slc9c1 APN 16 45,582,972 (GRCm38) missense probably benign
IGL01671:Slc9c1 APN 16 45,560,315 (GRCm38) missense probably benign
IGL01720:Slc9c1 APN 16 45,555,769 (GRCm38) missense probably damaging 1.00
IGL01758:Slc9c1 APN 16 45,541,461 (GRCm38) missense probably damaging 1.00
IGL02031:Slc9c1 APN 16 45,599,470 (GRCm38) missense probably benign 0.00
IGL02321:Slc9c1 APN 16 45,556,614 (GRCm38) missense probably benign 0.02
IGL02472:Slc9c1 APN 16 45,580,142 (GRCm38) missense probably benign 0.10
IGL02516:Slc9c1 APN 16 45,577,875 (GRCm38) missense probably damaging 0.96
IGL02732:Slc9c1 APN 16 45,550,185 (GRCm38) missense possibly damaging 0.78
IGL02741:Slc9c1 APN 16 45,581,598 (GRCm38) missense possibly damaging 0.48
IGL02795:Slc9c1 APN 16 45,575,419 (GRCm38) missense probably benign 0.06
IGL03032:Slc9c1 APN 16 45,543,261 (GRCm38) splice site probably benign
IGL03062:Slc9c1 APN 16 45,599,758 (GRCm38) missense probably benign 0.20
IGL03184:Slc9c1 APN 16 45,547,640 (GRCm38) missense probably damaging 1.00
IGL03351:Slc9c1 APN 16 45,543,168 (GRCm38) missense probably benign 0.01
P0041:Slc9c1 UTSW 16 45,550,161 (GRCm38) missense possibly damaging 0.65
R0052:Slc9c1 UTSW 16 45,606,856 (GRCm38) utr 3 prime probably benign
R0107:Slc9c1 UTSW 16 45,575,420 (GRCm38) missense probably benign 0.00
R0255:Slc9c1 UTSW 16 45,554,300 (GRCm38) missense probably benign 0.25
R0316:Slc9c1 UTSW 16 45,580,232 (GRCm38) missense possibly damaging 0.72
R0437:Slc9c1 UTSW 16 45,599,887 (GRCm38) splice site probably benign
R0611:Slc9c1 UTSW 16 45,581,602 (GRCm38) missense possibly damaging 0.83
R0624:Slc9c1 UTSW 16 45,573,356 (GRCm38) missense probably benign 0.00
R0630:Slc9c1 UTSW 16 45,543,120 (GRCm38) splice site probably benign
R1106:Slc9c1 UTSW 16 45,555,807 (GRCm38) missense possibly damaging 0.66
R1396:Slc9c1 UTSW 16 45,573,347 (GRCm38) missense probably benign 0.43
R1727:Slc9c1 UTSW 16 45,601,961 (GRCm38) missense probably benign 0.27
R1732:Slc9c1 UTSW 16 45,552,928 (GRCm38) missense probably benign 0.21
R1754:Slc9c1 UTSW 16 45,589,509 (GRCm38) missense probably benign 0.11
R1799:Slc9c1 UTSW 16 45,554,289 (GRCm38) missense probably damaging 1.00
R1802:Slc9c1 UTSW 16 45,558,281 (GRCm38) missense probably benign
R1813:Slc9c1 UTSW 16 45,573,347 (GRCm38) missense probably benign 0.43
R1972:Slc9c1 UTSW 16 45,593,472 (GRCm38) missense possibly damaging 0.89
R1985:Slc9c1 UTSW 16 45,550,106 (GRCm38) missense probably benign 0.01
R1995:Slc9c1 UTSW 16 45,554,255 (GRCm38) missense probably damaging 0.99
R2045:Slc9c1 UTSW 16 45,580,250 (GRCm38) missense probably damaging 1.00
R2146:Slc9c1 UTSW 16 45,593,464 (GRCm38) missense probably benign 0.19
R2511:Slc9c1 UTSW 16 45,544,736 (GRCm38) missense possibly damaging 0.79
R3716:Slc9c1 UTSW 16 45,580,219 (GRCm38) missense probably benign
R3765:Slc9c1 UTSW 16 45,590,881 (GRCm38) missense possibly damaging 0.89
R3936:Slc9c1 UTSW 16 45,606,830 (GRCm38) utr 3 prime probably benign
R4051:Slc9c1 UTSW 16 45,543,230 (GRCm38) missense probably damaging 1.00
R4302:Slc9c1 UTSW 16 45,544,791 (GRCm38) missense probably benign 0.35
R4433:Slc9c1 UTSW 16 45,599,466 (GRCm38) missense possibly damaging 0.93
R4651:Slc9c1 UTSW 16 45,547,393 (GRCm38) makesense probably null
R4928:Slc9c1 UTSW 16 45,575,409 (GRCm38) missense probably benign 0.42
R4957:Slc9c1 UTSW 16 45,544,831 (GRCm38) missense probably benign 0.45
R4989:Slc9c1 UTSW 16 45,593,437 (GRCm38) missense probably benign 0.03
R5478:Slc9c1 UTSW 16 45,554,246 (GRCm38) missense probably damaging 1.00
R5534:Slc9c1 UTSW 16 45,556,614 (GRCm38) missense probably benign 0.00
R5898:Slc9c1 UTSW 16 45,544,760 (GRCm38) missense probably damaging 1.00
R5939:Slc9c1 UTSW 16 45,547,668 (GRCm38) missense probably benign 0.00
R6110:Slc9c1 UTSW 16 45,575,368 (GRCm38) missense probably damaging 1.00
R6115:Slc9c1 UTSW 16 45,555,769 (GRCm38) missense probably damaging 1.00
R6277:Slc9c1 UTSW 16 45,606,841 (GRCm38) utr 3 prime probably benign
R6286:Slc9c1 UTSW 16 45,577,831 (GRCm38) missense probably benign 0.14
R7268:Slc9c1 UTSW 16 45,550,116 (GRCm38) missense probably damaging 1.00
R7272:Slc9c1 UTSW 16 45,581,515 (GRCm38) missense possibly damaging 0.89
R7431:Slc9c1 UTSW 16 45,593,484 (GRCm38) missense probably damaging 1.00
R7573:Slc9c1 UTSW 16 45,577,893 (GRCm38) missense probably benign 0.00
R7881:Slc9c1 UTSW 16 45,582,969 (GRCm38) missense probably benign 0.00
R8207:Slc9c1 UTSW 16 45,539,713 (GRCm38) missense possibly damaging 0.65
R8289:Slc9c1 UTSW 16 45,582,981 (GRCm38) missense probably benign 0.09
R8302:Slc9c1 UTSW 16 45,547,695 (GRCm38) missense probably benign
R8328:Slc9c1 UTSW 16 45,577,864 (GRCm38) missense probably damaging 0.97
R8421:Slc9c1 UTSW 16 45,593,371 (GRCm38) missense probably damaging 0.97
R8691:Slc9c1 UTSW 16 45,606,819 (GRCm38) missense probably benign 0.00
R8712:Slc9c1 UTSW 16 45,560,283 (GRCm38) missense probably benign 0.00
R9128:Slc9c1 UTSW 16 45,580,127 (GRCm38) missense probably benign 0.25
R9191:Slc9c1 UTSW 16 45,599,781 (GRCm38) missense possibly damaging 0.57
R9230:Slc9c1 UTSW 16 45,577,912 (GRCm38) missense possibly damaging 0.93
R9248:Slc9c1 UTSW 16 45,550,188 (GRCm38) missense probably benign 0.01
R9417:Slc9c1 UTSW 16 45,593,485 (GRCm38) missense probably benign 0.45
R9519:Slc9c1 UTSW 16 45,575,407 (GRCm38) missense probably damaging 1.00
R9570:Slc9c1 UTSW 16 45,560,342 (GRCm38) missense probably benign 0.13
R9686:Slc9c1 UTSW 16 45,580,214 (GRCm38) missense possibly damaging 0.72
R9695:Slc9c1 UTSW 16 45,547,663 (GRCm38) missense probably benign 0.00
R9742:Slc9c1 UTSW 16 45,580,253 (GRCm38) missense probably damaging 1.00
Z1176:Slc9c1 UTSW 16 45,558,238 (GRCm38) missense possibly damaging 0.48
Z1177:Slc9c1 UTSW 16 45,573,419 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CCCTGGCTCCAGTTAAGTAGGAATAGAA -3'
(R):5'- agcatccacttgtCTCAATATCGCTTT -3'

Sequencing Primer
(F):5'- CCAGTTAAGTAGGAATAGAATTGACC -3'
(R):5'- ttcccagcaaccacacag -3'
Posted On 2013-06-11