Incidental Mutation 'IGL01671:Slc9c1'
ID 103488
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01671
Quality Score
Status
Chromosome 16
Chromosomal Location 45535309-45607001 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45560315 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 535 (T535S)
Ref Sequence ENSEMBL: ENSMUSP00000124969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159945]
AlphaFold Q6UJY2
Predicted Effect probably benign
Transcript: ENSMUST00000159945
AA Change: T535S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: T535S

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 unknown
Transcript: ENSMUST00000162151
AA Change: T506S
Predicted Effect probably benign
Transcript: ENSMUST00000162774
Coding Region Coverage
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc7 C T 5: 106,983,245 P529S probably damaging Het
Defb45 T C 2: 152,593,411 K26E probably benign Het
Dnajb8 T C 6: 88,222,920 L146S probably benign Het
Egln1 T C 8: 124,910,715 D399G probably benign Het
Ephb1 A T 9: 101,996,787 C563S probably damaging Het
Gad2 T A 2: 22,623,699 Y49* probably null Het
Gga2 A G 7: 121,994,856 S470P probably benign Het
Gm21276 G T 7: 38,764,727 noncoding transcript Het
Gm3115 G A 14: 4,084,189 C9Y probably benign Het
H2-M1 T C 17: 36,670,438 E235G probably damaging Het
Hfe2 T C 3: 96,528,491 V355A probably damaging Het
Hsp90b1 C T 10: 86,704,325 G41S probably benign Het
Mccc1 T C 3: 35,964,460 D575G probably benign Het
Metap2 T C 10: 93,871,478 probably benign Het
Myh7 T C 14: 54,972,924 T1775A probably damaging Het
Olfr1469 T A 19: 13,410,891 F107L probably benign Het
Olfr170 A G 16: 19,605,921 I249T probably benign Het
Olfr935 A G 9: 38,994,853 V194A probably benign Het
Pak7 T C 2: 136,116,373 D265G possibly damaging Het
Pex1 A G 5: 3,624,088 I793V probably benign Het
Prkdc A G 16: 15,667,745 I479V possibly damaging Het
Rhcg A C 7: 79,598,551 I435S probably benign Het
Stab2 T C 10: 86,969,277 D279G possibly damaging Het
Wdr83 T C 8: 85,075,819 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
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
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
Posted On 2014-01-21