Incidental Mutation 'R5898:Slc9c1'
ID |
457694 |
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, spermNHE, Slc9a10 |
MMRRC Submission |
044097-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.398)
|
Stock # |
R5898 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45365123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 152
(N152S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
AlphaFold |
Q6UJY2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159945
AA Change: N152S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124969 Gene: ENSMUSG00000033210 AA Change: N152S
Domain | Start | End | E-Value | Type |
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: N123S
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162774
AA Change: N123S
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
96% (86/90) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
G |
T |
10: 100,448,762 (GRCm39) |
R158L |
possibly damaging |
Het |
1700017N19Rik |
G |
A |
10: 100,451,070 (GRCm39) |
M179I |
probably benign |
Het |
Abhd12 |
T |
C |
2: 150,681,698 (GRCm39) |
I231V |
possibly damaging |
Het |
Adsl |
A |
G |
15: 80,845,554 (GRCm39) |
|
probably null |
Het |
Ahnak |
C |
A |
19: 8,991,131 (GRCm39) |
N4138K |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,995,575 (GRCm39) |
S5620P |
probably damaging |
Het |
Akap13 |
C |
T |
7: 75,378,894 (GRCm39) |
T2145I |
probably damaging |
Het |
Alpk2 |
T |
A |
18: 65,440,694 (GRCm39) |
Q700L |
probably damaging |
Het |
Apobec1 |
T |
C |
6: 122,557,732 (GRCm39) |
Y159C |
probably damaging |
Het |
Atg9a |
T |
C |
1: 75,162,916 (GRCm39) |
T395A |
probably damaging |
Het |
Atp6v1f |
A |
G |
6: 29,467,957 (GRCm39) |
I48V |
probably benign |
Het |
BC051665 |
A |
C |
13: 60,930,518 (GRCm39) |
V278G |
probably damaging |
Het |
Bicd1 |
A |
T |
6: 149,415,201 (GRCm39) |
H638L |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,251,192 (GRCm39) |
Y460C |
probably damaging |
Het |
Ccdc157 |
C |
A |
11: 4,094,538 (GRCm39) |
R496L |
probably benign |
Het |
Cdcp3 |
T |
G |
7: 130,843,696 (GRCm39) |
|
probably null |
Het |
Cep44 |
C |
G |
8: 56,994,056 (GRCm39) |
V174L |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,722,522 (GRCm39) |
F283L |
possibly damaging |
Het |
Csk |
T |
C |
9: 57,537,585 (GRCm39) |
T110A |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,792,506 (GRCm39) |
|
probably null |
Het |
Cutc |
A |
G |
19: 43,748,468 (GRCm39) |
I124V |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,339,725 (GRCm39) |
T104A |
probably benign |
Het |
Cyp2j9 |
G |
T |
4: 96,465,951 (GRCm39) |
T294K |
probably benign |
Het |
D630003M21Rik |
T |
A |
2: 158,046,577 (GRCm39) |
|
probably null |
Het |
Dcaf15 |
G |
T |
8: 84,825,081 (GRCm39) |
F450L |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,840,125 (GRCm39) |
I723K |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 118,005,039 (GRCm39) |
A782T |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,677,724 (GRCm39) |
D399G |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,148,717 (GRCm39) |
N909S |
probably benign |
Het |
Erbin |
A |
G |
13: 103,975,813 (GRCm39) |
|
probably null |
Het |
Fanci |
G |
A |
7: 79,083,069 (GRCm39) |
V682I |
probably benign |
Het |
Fap |
A |
T |
2: 62,403,847 (GRCm39) |
F9L |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,849,757 (GRCm39) |
I3882V |
probably benign |
Het |
Fkbp15 |
A |
T |
4: 62,244,294 (GRCm39) |
|
probably null |
Het |
Fsd2 |
T |
C |
7: 81,186,975 (GRCm39) |
Y601C |
probably damaging |
Het |
Gm5900 |
T |
C |
7: 104,599,468 (GRCm39) |
|
noncoding transcript |
Het |
Gramd4 |
G |
T |
15: 85,984,985 (GRCm39) |
G82V |
probably damaging |
Het |
Hc |
C |
T |
2: 34,887,449 (GRCm39) |
V1352I |
probably benign |
Het |
Hsph1 |
A |
T |
5: 149,548,623 (GRCm39) |
N466K |
probably damaging |
Het |
Ice2 |
T |
A |
9: 69,315,544 (GRCm39) |
D133E |
probably benign |
Het |
Ifi213 |
T |
C |
1: 173,396,545 (GRCm39) |
M510V |
probably benign |
Het |
Itpkb |
T |
G |
1: 180,248,880 (GRCm39) |
L861R |
probably damaging |
Het |
Kbtbd3 |
T |
A |
9: 4,330,476 (GRCm39) |
D283E |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
Masp1 |
T |
A |
16: 23,310,677 (GRCm39) |
I252F |
probably damaging |
Het |
Megf11 |
G |
T |
9: 64,593,246 (GRCm39) |
C586F |
probably damaging |
Het |
Myh2 |
C |
A |
11: 67,083,545 (GRCm39) |
A1476E |
possibly damaging |
Het |
Myo18b |
A |
T |
5: 112,950,196 (GRCm39) |
|
probably null |
Het |
Naip6 |
A |
T |
13: 100,435,829 (GRCm39) |
V898E |
possibly damaging |
Het |
Nav1 |
T |
C |
1: 135,512,884 (GRCm39) |
M59V |
probably benign |
Het |
Nlrp3 |
A |
T |
11: 59,437,678 (GRCm39) |
Y119F |
probably benign |
Het |
Oxa1l |
T |
A |
14: 54,600,758 (GRCm39) |
I77N |
possibly damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,490,537 (GRCm39) |
D738E |
possibly damaging |
Het |
Pdia5 |
A |
T |
16: 35,243,335 (GRCm39) |
W269R |
probably damaging |
Het |
Peak1 |
T |
A |
9: 56,114,622 (GRCm39) |
T1440S |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,214,682 (GRCm39) |
V1547A |
probably benign |
Het |
Pkp1 |
T |
C |
1: 135,810,259 (GRCm39) |
Y437C |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,253,104 (GRCm39) |
D1329G |
probably damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,671,887 (GRCm39) |
|
probably benign |
Het |
Prrg4 |
C |
T |
2: 104,675,378 (GRCm39) |
S75N |
probably benign |
Het |
Psmb9 |
T |
A |
17: 34,401,266 (GRCm39) |
I198F |
probably damaging |
Het |
Rcbtb2 |
T |
A |
14: 73,399,405 (GRCm39) |
L23* |
probably null |
Het |
Sbno1 |
A |
T |
5: 124,524,854 (GRCm39) |
|
probably benign |
Het |
Scn3a |
T |
C |
2: 65,345,039 (GRCm39) |
E483G |
probably damaging |
Het |
Sdccag8 |
T |
A |
1: 176,652,388 (GRCm39) |
D46E |
probably benign |
Het |
Selenov |
A |
G |
7: 27,987,579 (GRCm39) |
F293L |
probably damaging |
Het |
Septin2 |
A |
C |
1: 93,407,023 (GRCm39) |
D20A |
probably benign |
Het |
Shc1 |
T |
A |
3: 89,334,274 (GRCm39) |
Y313* |
probably null |
Het |
Siglec1 |
T |
A |
2: 130,915,553 (GRCm39) |
Y1346F |
probably damaging |
Het |
Slc22a5 |
T |
A |
11: 53,764,559 (GRCm39) |
I296F |
probably damaging |
Het |
Smoc1 |
C |
T |
12: 81,151,531 (GRCm39) |
R83* |
probably null |
Het |
Ssx2ip |
A |
G |
3: 146,133,586 (GRCm39) |
D227G |
possibly damaging |
Het |
Tbrg4 |
T |
C |
11: 6,567,372 (GRCm39) |
D576G |
probably damaging |
Het |
Tbx20 |
T |
A |
9: 24,670,155 (GRCm39) |
Y226F |
probably damaging |
Het |
Trav10d |
G |
T |
14: 53,048,929 (GRCm39) |
A107S |
probably damaging |
Het |
Trim60 |
A |
T |
8: 65,453,016 (GRCm39) |
L411* |
probably null |
Het |
Ttbk2 |
A |
T |
2: 120,575,521 (GRCm39) |
V1083D |
probably benign |
Het |
Unc93a |
T |
A |
17: 13,344,464 (GRCm39) |
Q26L |
probably damaging |
Het |
Usp14 |
T |
A |
18: 10,022,819 (GRCm39) |
N65I |
possibly damaging |
Het |
Vip |
A |
T |
10: 5,593,988 (GRCm39) |
S114C |
probably damaging |
Het |
Vmn1r237 |
A |
T |
17: 21,534,813 (GRCm39) |
I179F |
probably damaging |
Het |
Wdr47 |
T |
A |
3: 108,545,201 (GRCm39) |
|
probably null |
Het |
Zfp975 |
A |
T |
7: 42,311,963 (GRCm39) |
C217S |
probably damaging |
Het |
|
Other mutations in Slc9c1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTAGCAAAGTGAGCTAACGAAC -3'
(R):5'- TTACCACACCAGTGCATGTG -3'
Sequencing Primer
(F):5'- GTGAGCTAACGAACTGCTAGCC -3'
(R):5'- CCAGTGCATGTGATCAAATCC -3'
|
Posted On |
2017-02-15 |