Incidental Mutation 'IGL02516:Slc9c1'
ID 296771
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 # IGL02516
Quality Score
Status
Chromosome 16
Chromosomal Location 45355672-45427364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45398238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 668 (N668D)
Ref Sequence ENSEMBL: ENSMUSP00000124969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159945]
AlphaFold Q6UJY2
Predicted Effect probably damaging
Transcript: ENSMUST00000159945
AA Change: N668D

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: N668D

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 25,388,612 (GRCm39) S364N probably damaging Het
Ano8 C T 8: 71,937,721 (GRCm39) G47D probably damaging Het
App T C 16: 84,752,305 (GRCm39) T743A probably damaging Het
Armc3 A G 2: 19,305,317 (GRCm39) K692E possibly damaging Het
Arpp21 T C 9: 112,014,729 (GRCm39) N25S probably damaging Het
Avpr1b G A 1: 131,528,367 (GRCm39) V297I probably damaging Het
Bpi A G 2: 158,109,651 (GRCm39) I200V possibly damaging Het
Cacna2d4 C T 6: 119,248,831 (GRCm39) probably benign Het
Cbarp A G 10: 79,971,379 (GRCm39) Y149H probably damaging Het
Ccdc85c T C 12: 108,241,160 (GRCm39) N78S unknown Het
Cdcp1 G T 9: 123,002,702 (GRCm39) L790M possibly damaging Het
Cdkn2d T A 9: 21,200,439 (GRCm39) I111F probably benign Het
Ctsr A G 13: 61,310,992 (GRCm39) V18A probably benign Het
Dapk1 A G 13: 60,844,161 (GRCm39) D60G probably damaging Het
Daw1 A C 1: 83,186,949 (GRCm39) N253T probably benign Het
Dcaf7 T A 11: 105,942,698 (GRCm39) I215N probably damaging Het
Ddc A C 11: 11,779,125 (GRCm39) L333R probably damaging Het
Dennd1a A G 2: 37,742,406 (GRCm39) probably null Het
Dnah10 C A 5: 124,864,395 (GRCm39) T2200K probably damaging Het
Dock6 T C 9: 21,713,881 (GRCm39) Y1883C probably damaging Het
Ecpas T C 4: 58,877,102 (GRCm39) E111G probably damaging Het
Eif2ak4 T A 2: 118,266,735 (GRCm39) I752N probably damaging Het
Fcho2 A G 13: 98,866,720 (GRCm39) I740T probably benign Het
Flnc A G 6: 29,450,840 (GRCm39) D1496G probably damaging Het
Fn1 A G 1: 71,676,482 (GRCm39) V583A possibly damaging Het
Greb1l A C 18: 10,537,064 (GRCm39) T1010P probably benign Het
Hs3st6 T C 17: 24,977,105 (GRCm39) L195P probably damaging Het
Hyi A G 4: 118,219,680 (GRCm39) E239G probably damaging Het
Ighv2-3 G T 12: 113,574,818 (GRCm39) Y112* probably null Het
Ints3 A G 3: 90,310,415 (GRCm39) F495S probably damaging Het
Itih2 T A 2: 10,102,728 (GRCm39) H802L probably benign Het
Jag2 C T 12: 112,874,186 (GRCm39) V990M probably damaging Het
Kat6b T C 14: 21,659,936 (GRCm39) probably benign Het
Krtap4-8 C T 11: 99,671,168 (GRCm39) probably benign Het
Lhx4 A G 1: 155,578,003 (GRCm39) S380P probably damaging Het
Morn3 C A 5: 123,175,363 (GRCm39) E33* probably null Het
Mug2 C T 6: 122,047,802 (GRCm39) A771V probably damaging Het
N4bp3 A T 11: 51,535,161 (GRCm39) S343T probably benign Het
Nlrp1a T C 11: 71,005,286 (GRCm39) N643S probably damaging Het
Or2c1 A C 16: 3,657,200 (GRCm39) D121A probably damaging Het
Or2h1b T A 17: 37,462,163 (GRCm39) R79S possibly damaging Het
Or6c8 T A 10: 128,915,662 (GRCm39) M57L possibly damaging Het
Phc3 A G 3: 31,002,942 (GRCm39) F192S probably damaging Het
Pigq C T 17: 26,156,221 (GRCm39) R69H probably benign Het
Plk3 A G 4: 116,989,186 (GRCm39) C222R probably damaging Het
Pomt2 T C 12: 87,166,420 (GRCm39) T490A probably benign Het
Prss29 T C 17: 25,539,875 (GRCm39) I91T probably damaging Het
Ralgapb A T 2: 158,307,735 (GRCm39) probably benign Het
Sccpdh G A 1: 179,509,256 (GRCm39) G75D probably damaging Het
Serpine2 T C 1: 79,772,714 (GRCm39) probably benign Het
Sfr1 T G 19: 47,721,429 (GRCm39) probably null Het
Slc22a23 C A 13: 34,387,938 (GRCm39) C386F probably benign Het
Slc22a27 T C 19: 7,842,176 (GRCm39) K433R probably damaging Het
Slc39a12 T C 2: 14,405,146 (GRCm39) L246P probably damaging Het
Slc4a11 A G 2: 130,533,313 (GRCm39) I191T possibly damaging Het
Supt16 A T 14: 52,421,421 (GRCm39) D41E possibly damaging Het
Tamalin G A 15: 101,126,932 (GRCm39) V137I probably damaging Het
Ugt2b37 A G 5: 87,388,741 (GRCm39) S491P probably damaging Het
Urb1 G T 16: 90,569,583 (GRCm39) T1381N possibly damaging Het
Usp8 A G 2: 126,584,094 (GRCm39) I423M probably benign Het
Vmn1r191 T A 13: 22,363,710 (GRCm39) I15F probably benign Het
Zbtb5 A T 4: 44,993,798 (GRCm39) Y529N probably damaging Het
Zfp541 T A 7: 15,816,918 (GRCm39) probably null 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
IGL01655:Slc9c1 APN 16 45,403,335 (GRCm39) missense probably benign
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
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 2015-04-16