Incidental Mutation 'IGL01655:Slc9c1'
ID 102962
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, spermNHE, Slc9a10
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # IGL01655
Quality Score
Status
Chromosome 16
Chromosomal Location 45355672-45427364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45403335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 801 (M801L)
Ref Sequence ENSEMBL: ENSMUSP00000124969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159945]
AlphaFold Q6UJY2
Predicted Effect probably benign
Transcript: ENSMUST00000159945
AA Change: M801L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: M801L

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 G A 3: 97,073,288 (GRCm39) probably null Het
Aida T A 1: 183,094,618 (GRCm39) Y104* probably null Het
Cd300lg T C 11: 101,937,901 (GRCm39) S244P probably benign Het
Ces4a T A 8: 105,873,806 (GRCm39) L425Q probably damaging Het
Chrnb3 T C 8: 27,884,202 (GRCm39) V298A probably damaging Het
Cnot6 A C 11: 49,568,131 (GRCm39) F486C probably damaging Het
Ctnna3 A G 10: 64,708,949 (GRCm39) T663A probably benign Het
Cyp2j12 T A 4: 96,003,814 (GRCm39) K267N possibly damaging Het
Dclre1a A T 19: 56,535,489 (GRCm39) Y32N probably damaging Het
Ddx21 A G 10: 62,423,270 (GRCm39) I644T probably damaging Het
Epha6 A C 16: 59,659,666 (GRCm39) N817K probably benign Het
Ercc6l2 T A 13: 63,967,566 (GRCm39) Y55* probably null Het
Esyt1 A G 10: 128,358,181 (GRCm39) I183T possibly damaging Het
Exoc8 T C 8: 125,622,967 (GRCm39) T467A probably benign Het
Fance T C 17: 28,541,753 (GRCm39) probably benign Het
Fbxo46 C T 7: 18,870,235 (GRCm39) R285W probably damaging Het
Ffar2 A T 7: 30,519,012 (GRCm39) V176E probably damaging Het
Fnbp1l T C 3: 122,362,398 (GRCm39) probably null Het
Gm10288 T C 3: 146,544,565 (GRCm39) noncoding transcript Het
Gm12588 T A 11: 121,798,777 (GRCm39) Het
Gm9755 G A 8: 67,967,885 (GRCm39) noncoding transcript Het
Gpr33 A T 12: 52,070,343 (GRCm39) M232K probably damaging Het
Haus5 A T 7: 30,362,719 (GRCm39) probably benign Het
Ilvbl A G 10: 78,413,167 (GRCm39) probably benign Het
Kifap3 G A 1: 163,623,618 (GRCm39) probably benign Het
Klhl26 T C 8: 70,904,533 (GRCm39) Y378C probably damaging Het
Lama4 G A 10: 38,936,209 (GRCm39) S628N probably benign Het
Lamc3 G A 2: 31,788,290 (GRCm39) R150H probably damaging Het
Mrgprx2 A T 7: 48,132,439 (GRCm39) C126* probably null Het
Myo3a A T 2: 22,428,137 (GRCm39) D798V probably damaging Het
Ndufs1 A T 1: 63,190,716 (GRCm39) L44Q probably damaging Het
Nfrkb G T 9: 31,314,755 (GRCm39) R525L probably benign Het
Or10ag58 T A 2: 87,265,229 (GRCm39) C133S probably damaging Het
Or1e34 T C 11: 73,778,753 (GRCm39) I148M probably benign Het
Or2p2 T C 13: 21,257,075 (GRCm39) Y132C probably damaging Het
Or2r11 T C 6: 42,437,474 (GRCm39) T160A probably benign Het
Or4k41 T C 2: 111,280,234 (GRCm39) F250L probably benign Het
Or4q3 A G 14: 50,583,641 (GRCm39) M86T probably benign Het
Or5w1 A G 2: 87,486,773 (GRCm39) F164S probably damaging Het
Or8g17 T A 9: 38,930,214 (GRCm39) I208F probably benign Het
Or9r7 G T 10: 129,962,860 (GRCm39) T22K probably benign Het
Pias4 T C 10: 80,991,492 (GRCm39) K352E probably benign Het
Pkhd1 G A 1: 20,604,857 (GRCm39) Q1153* probably null Het
Pon1 C A 6: 5,175,760 (GRCm39) W254C probably damaging Het
Prr14 A G 7: 127,074,939 (GRCm39) T447A probably benign Het
Serpinb9g T A 13: 33,679,088 (GRCm39) C319* probably null Het
Tenm4 C T 7: 96,202,931 (GRCm39) T182M probably damaging Het
Ubr4 T A 4: 139,135,107 (GRCm39) L813Q probably damaging Het
Uimc1 T C 13: 55,176,517 (GRCm39) E667G probably benign Het
Unc79 A G 12: 103,134,546 (GRCm39) T2173A probably benign Het
Unkl T C 17: 25,429,822 (GRCm39) S142P probably benign Het
Vezt A G 10: 93,832,859 (GRCm39) V204A probably benign Het
Vps53 A T 11: 75,953,860 (GRCm39) I402N probably damaging Het
Zfyve9 T C 4: 108,499,289 (GRCm39) D1343G probably damaging Het
Other mutations in Slc9c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Slc9c1 APN 16 45,393,752 (GRCm39) missense possibly damaging 0.93
IGL00510:Slc9c1 APN 16 45,360,002 (GRCm39) missense probably benign 0.00
IGL00949:Slc9c1 APN 16 45,413,721 (GRCm39) missense probably benign
IGL01287:Slc9c1 APN 16 45,404,811 (GRCm39) nonsense probably null
IGL01536:Slc9c1 APN 16 45,409,992 (GRCm39) critical splice donor site probably null
IGL01671:Slc9c1 APN 16 45,380,678 (GRCm39) missense probably benign
IGL01720:Slc9c1 APN 16 45,376,132 (GRCm39) missense probably damaging 1.00
IGL01758:Slc9c1 APN 16 45,361,824 (GRCm39) missense probably damaging 1.00
IGL02031:Slc9c1 APN 16 45,419,833 (GRCm39) missense probably benign 0.00
IGL02321:Slc9c1 APN 16 45,376,977 (GRCm39) missense probably benign 0.02
IGL02472:Slc9c1 APN 16 45,400,505 (GRCm39) missense probably benign 0.10
IGL02516:Slc9c1 APN 16 45,398,238 (GRCm39) missense probably damaging 0.96
IGL02732:Slc9c1 APN 16 45,370,548 (GRCm39) missense possibly damaging 0.78
IGL02741:Slc9c1 APN 16 45,401,961 (GRCm39) missense possibly damaging 0.48
IGL02795:Slc9c1 APN 16 45,395,782 (GRCm39) missense probably benign 0.06
IGL03032:Slc9c1 APN 16 45,363,624 (GRCm39) splice site probably benign
IGL03062:Slc9c1 APN 16 45,420,121 (GRCm39) missense probably benign 0.20
IGL03184:Slc9c1 APN 16 45,368,003 (GRCm39) missense probably damaging 1.00
IGL03351:Slc9c1 APN 16 45,363,531 (GRCm39) missense probably benign 0.01
P0041:Slc9c1 UTSW 16 45,370,524 (GRCm39) missense possibly damaging 0.65
R0052:Slc9c1 UTSW 16 45,427,219 (GRCm39) utr 3 prime probably benign
R0107:Slc9c1 UTSW 16 45,395,783 (GRCm39) missense probably benign 0.00
R0255:Slc9c1 UTSW 16 45,374,663 (GRCm39) missense probably benign 0.25
R0316:Slc9c1 UTSW 16 45,400,595 (GRCm39) missense possibly damaging 0.72
R0437:Slc9c1 UTSW 16 45,420,250 (GRCm39) splice site probably benign
R0611:Slc9c1 UTSW 16 45,401,965 (GRCm39) missense possibly damaging 0.83
R0624:Slc9c1 UTSW 16 45,393,719 (GRCm39) missense probably benign 0.00
R0630:Slc9c1 UTSW 16 45,363,483 (GRCm39) splice site probably benign
R1106:Slc9c1 UTSW 16 45,376,170 (GRCm39) missense possibly damaging 0.66
R1396:Slc9c1 UTSW 16 45,393,710 (GRCm39) missense probably benign 0.43
R1727:Slc9c1 UTSW 16 45,422,324 (GRCm39) missense probably benign 0.27
R1732:Slc9c1 UTSW 16 45,373,291 (GRCm39) missense probably benign 0.21
R1754:Slc9c1 UTSW 16 45,409,872 (GRCm39) missense probably benign 0.11
R1799:Slc9c1 UTSW 16 45,374,652 (GRCm39) missense probably damaging 1.00
R1802:Slc9c1 UTSW 16 45,378,644 (GRCm39) missense probably benign
R1813:Slc9c1 UTSW 16 45,393,710 (GRCm39) missense probably benign 0.43
R1972:Slc9c1 UTSW 16 45,413,835 (GRCm39) missense possibly damaging 0.89
R1985:Slc9c1 UTSW 16 45,370,469 (GRCm39) missense probably benign 0.01
R1995:Slc9c1 UTSW 16 45,374,618 (GRCm39) missense probably damaging 0.99
R2045:Slc9c1 UTSW 16 45,400,613 (GRCm39) missense probably damaging 1.00
R2146:Slc9c1 UTSW 16 45,413,827 (GRCm39) missense probably benign 0.19
R2511:Slc9c1 UTSW 16 45,365,099 (GRCm39) missense possibly damaging 0.79
R3716:Slc9c1 UTSW 16 45,400,582 (GRCm39) missense probably benign
R3765:Slc9c1 UTSW 16 45,411,244 (GRCm39) missense possibly damaging 0.89
R3936:Slc9c1 UTSW 16 45,427,193 (GRCm39) utr 3 prime probably benign
R4051:Slc9c1 UTSW 16 45,363,593 (GRCm39) missense probably damaging 1.00
R4302:Slc9c1 UTSW 16 45,365,154 (GRCm39) missense probably benign 0.35
R4433:Slc9c1 UTSW 16 45,419,829 (GRCm39) missense possibly damaging 0.93
R4651:Slc9c1 UTSW 16 45,367,756 (GRCm39) makesense probably null
R4928:Slc9c1 UTSW 16 45,395,772 (GRCm39) missense probably benign 0.42
R4957:Slc9c1 UTSW 16 45,365,194 (GRCm39) missense probably benign 0.45
R4989:Slc9c1 UTSW 16 45,413,800 (GRCm39) missense probably benign 0.03
R5478:Slc9c1 UTSW 16 45,374,609 (GRCm39) missense probably damaging 1.00
R5534:Slc9c1 UTSW 16 45,376,977 (GRCm39) missense probably benign 0.00
R5898:Slc9c1 UTSW 16 45,365,123 (GRCm39) missense probably damaging 1.00
R5939:Slc9c1 UTSW 16 45,368,031 (GRCm39) missense probably benign 0.00
R6110:Slc9c1 UTSW 16 45,395,731 (GRCm39) missense probably damaging 1.00
R6115:Slc9c1 UTSW 16 45,376,132 (GRCm39) missense probably damaging 1.00
R6277:Slc9c1 UTSW 16 45,427,204 (GRCm39) utr 3 prime probably benign
R6286:Slc9c1 UTSW 16 45,398,194 (GRCm39) missense probably benign 0.14
R7268:Slc9c1 UTSW 16 45,370,479 (GRCm39) missense probably damaging 1.00
R7272:Slc9c1 UTSW 16 45,401,878 (GRCm39) missense possibly damaging 0.89
R7431:Slc9c1 UTSW 16 45,413,847 (GRCm39) missense probably damaging 1.00
R7573:Slc9c1 UTSW 16 45,398,256 (GRCm39) missense probably benign 0.00
R7881:Slc9c1 UTSW 16 45,403,332 (GRCm39) missense probably benign 0.00
R8207:Slc9c1 UTSW 16 45,360,076 (GRCm39) missense possibly damaging 0.65
R8289:Slc9c1 UTSW 16 45,403,344 (GRCm39) missense probably benign 0.09
R8302:Slc9c1 UTSW 16 45,368,058 (GRCm39) missense probably benign
R8328:Slc9c1 UTSW 16 45,398,227 (GRCm39) missense probably damaging 0.97
R8421:Slc9c1 UTSW 16 45,413,734 (GRCm39) missense probably damaging 0.97
R8691:Slc9c1 UTSW 16 45,427,182 (GRCm39) missense probably benign 0.00
R8712:Slc9c1 UTSW 16 45,380,646 (GRCm39) missense probably benign 0.00
R9128:Slc9c1 UTSW 16 45,400,490 (GRCm39) missense probably benign 0.25
R9191:Slc9c1 UTSW 16 45,420,144 (GRCm39) missense possibly damaging 0.57
R9230:Slc9c1 UTSW 16 45,398,275 (GRCm39) missense possibly damaging 0.93
R9248:Slc9c1 UTSW 16 45,370,551 (GRCm39) missense probably benign 0.01
R9417:Slc9c1 UTSW 16 45,413,848 (GRCm39) missense probably benign 0.45
R9519:Slc9c1 UTSW 16 45,395,770 (GRCm39) missense probably damaging 1.00
R9570:Slc9c1 UTSW 16 45,380,705 (GRCm39) missense probably benign 0.13
R9686:Slc9c1 UTSW 16 45,400,577 (GRCm39) missense possibly damaging 0.72
R9695:Slc9c1 UTSW 16 45,368,026 (GRCm39) missense probably benign 0.00
R9742:Slc9c1 UTSW 16 45,400,616 (GRCm39) missense probably damaging 1.00
V8831:Slc9c1 UTSW 16 45,398,262 (GRCm39) missense possibly damaging 0.89
Z1176:Slc9c1 UTSW 16 45,378,601 (GRCm39) missense possibly damaging 0.48
Z1177:Slc9c1 UTSW 16 45,393,782 (GRCm39) frame shift probably null
Posted On 2014-01-21