Incidental Mutation 'R2146:Slc9c1'
ID 233866
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
MMRRC Submission 040149-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # R2146 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 45535309-45607001 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45593464 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 985 (Y985C)
Ref Sequence ENSEMBL: ENSMUSP00000124969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159945]
AlphaFold Q6UJY2
Predicted Effect probably benign
Transcript: ENSMUST00000159945
AA Change: Y985C

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: Y985C

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
Meta Mutation Damage Score 0.3642 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (84/85)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,347,844 (GRCm38) probably null Het
4933406M09Rik T A 1: 134,390,513 (GRCm38) M341K probably damaging Het
9530002B09Rik T A 4: 122,689,405 (GRCm38) C13* probably null Het
Abca12 C A 1: 71,263,488 (GRCm38) V2191L probably benign Het
Adamts18 G C 8: 113,845,003 (GRCm38) A116G possibly damaging Het
Anxa2 TCCC TCC 9: 69,489,754 (GRCm38) probably null Het
Arfgef1 C T 1: 10,199,878 (GRCm38) A349T probably benign Het
Arhgap6 A G X: 168,796,500 (GRCm38) T94A probably benign Het
Arhgef5 T C 6: 43,283,318 (GRCm38) S1413P probably damaging Het
Atg4c C A 4: 99,221,226 (GRCm38) N143K possibly damaging Het
BC005561 T C 5: 104,518,991 (GRCm38) F460L probably benign Het
C1qtnf12 A G 4: 155,966,465 (GRCm38) N297S probably benign Het
Cadps2 G T 6: 23,838,999 (GRCm38) probably benign Het
Ccdc185 G T 1: 182,747,520 (GRCm38) H535N possibly damaging Het
Ccdc57 A G 11: 120,885,225 (GRCm38) probably benign Het
Cd163 A G 6: 124,309,208 (GRCm38) H239R probably damaging Het
Ceacam2 G T 7: 25,527,943 (GRCm38) C166* probably null Het
Ces5a T A 8: 93,534,699 (GRCm38) E33D probably benign Het
Chl1 T C 6: 103,715,401 (GRCm38) probably null Het
Chsy3 G A 18: 59,176,472 (GRCm38) V266I probably benign Het
Cpa5 G T 6: 30,626,822 (GRCm38) R251L probably damaging Het
Cps1 A C 1: 67,152,379 (GRCm38) probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 (GRCm38) probably null Het
Cstf1 T C 2: 172,375,763 (GRCm38) Y99H probably damaging Het
Cyp2j11 G A 4: 96,316,358 (GRCm38) T317I probably damaging Het
Dennd3 A T 15: 73,555,060 (GRCm38) H762L probably benign Het
Dennd3 C T 15: 73,523,496 (GRCm38) T146M probably damaging Het
Dnah2 T C 11: 69,515,761 (GRCm38) M552V probably benign Het
Dnajc22 T C 15: 99,104,383 (GRCm38) V303A probably benign Het
Dtx2 T G 5: 136,030,610 (GRCm38) L458R probably benign Het
Elmsan1 G T 12: 84,173,035 (GRCm38) P382T probably damaging Het
Fat3 A T 9: 15,990,512 (GRCm38) F3072L probably benign Het
Fgf5 T C 5: 98,275,550 (GRCm38) *265R probably null Het
Fndc11 A G 2: 181,222,125 (GRCm38) E241G probably damaging Het
Glb1 T C 9: 114,450,648 (GRCm38) Y375H probably damaging Het
Gm4922 T G 10: 18,783,516 (GRCm38) Q486P probably benign Het
Gm5786 A T 12: 59,081,298 (GRCm38) noncoding transcript Het
Hepacam2 A T 6: 3,463,378 (GRCm38) probably benign Het
Ints9 G A 14: 64,986,343 (GRCm38) G89R possibly damaging Het
Iqcm T A 8: 75,888,613 (GRCm38) W441R probably damaging Het
Itga10 G T 3: 96,653,723 (GRCm38) G635W probably damaging Het
Itga10 T C 3: 96,651,492 (GRCm38) L382P possibly damaging Het
Kbtbd2 A G 6: 56,779,090 (GRCm38) Y554H probably damaging Het
Kif1b T C 4: 149,184,309 (GRCm38) K1649R probably damaging Het
L1cam A T X: 73,861,141 (GRCm38) F536Y probably damaging Het
Magee1 A T X: 105,122,958 (GRCm38) D783V probably damaging Het
Marveld3 A T 8: 109,959,802 (GRCm38) V144E probably benign Het
Mcam T C 9: 44,136,635 (GRCm38) V59A probably damaging Het
Mdga2 C T 12: 66,868,741 (GRCm38) E47K probably damaging Het
Metrn T A 17: 25,796,627 (GRCm38) E38V probably damaging Het
Mfrp T C 9: 44,103,718 (GRCm38) L314P probably benign Het
Mospd2 A G X: 164,956,477 (GRCm38) probably null Het
Mycbp2 G A 14: 103,155,922 (GRCm38) H3068Y probably damaging Het
Myh6 C T 14: 54,953,771 (GRCm38) R871H probably damaging Het
Nup214 C T 2: 32,034,466 (GRCm38) S1669F probably damaging Het
Olfr1104 T A 2: 87,021,665 (GRCm38) N293I probably damaging Het
Olfr1465 T C 19: 13,314,121 (GRCm38) T55A probably benign Het
Olfr156 A G 4: 43,821,178 (GRCm38) F61S probably damaging Het
Parvb A G 15: 84,232,168 (GRCm38) K33E possibly damaging Het
Pdcd11 A G 19: 47,104,752 (GRCm38) M490V probably benign Het
Pet2 T C X: 89,406,277 (GRCm38) D82G possibly damaging Het
Pkd2 A C 5: 104,455,590 (GRCm38) probably benign Het
Reps1 T A 10: 18,093,313 (GRCm38) D206E probably benign Het
Rimkla T A 4: 119,474,582 (GRCm38) M140L possibly damaging Het
Rnf13 T G 3: 57,802,486 (GRCm38) I150S probably null Het
Rxfp4 C T 3: 88,652,893 (GRCm38) A84T probably damaging Het
Serpinb8 T A 1: 107,605,927 (GRCm38) D237E probably benign Het
Sgo2b T G 8: 63,928,023 (GRCm38) T592P probably benign Het
Slc35d1 A T 4: 103,205,152 (GRCm38) I228N probably damaging Het
Slc39a1 T G 3: 90,249,450 (GRCm38) H104Q probably benign Het
Slc6a6 T C 6: 91,735,180 (GRCm38) V230A probably benign Het
Slc9a3 A G 13: 74,121,603 (GRCm38) E30G probably benign Het
Supt6 A G 11: 78,230,932 (GRCm38) F298S probably damaging Het
Tada2a T C 11: 84,079,629 (GRCm38) D432G probably damaging Het
Tmem131 C A 1: 36,812,609 (GRCm38) V938L probably benign Het
Tnpo3 A G 6: 29,589,036 (GRCm38) V105A probably benign Het
Ttc7 T C 17: 87,346,707 (GRCm38) probably benign Het
Ttn T C 2: 76,897,188 (GRCm38) probably benign Het
Usp16 T C 16: 87,473,187 (GRCm38) probably null Het
Usp36 A G 11: 118,268,665 (GRCm38) L486S probably benign Het
Uty T C Y: 1,239,816 (GRCm38) I72V probably benign Het
Vps51 A G 19: 6,068,134 (GRCm38) V777A probably benign Het
Zfp160 A G 17: 21,026,982 (GRCm38) K598R probably benign Het
Zfp39 T C 11: 58,890,332 (GRCm38) N535D probably benign Het
Zfp804a A G 2: 82,258,664 (GRCm38) T946A 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
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
V8831:Slc9c1 UTSW 16 45,577,899 (GRCm38) missense possibly damaging 0.89
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'- GGGTGACATAAATTAACCAGCG -3'
(R):5'- CATTGTGGTAGGCACACTTTTG -3'

Sequencing Primer
(F):5'- GTGACATAAATTAACCAGCGTATGTG -3'
(R):5'- AGCTAGCCTCTGAATCCAGTGATG -3'
Posted On 2014-10-01