Incidental Mutation 'R0052:Slc9c1'
ID |
33069 |
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 |
038346-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.398)
|
Stock # |
R0052 (G1)
|
Quality Score |
160 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to G
at 45427219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023339]
[ENSMUST00000159945]
[ENSMUST00000161347]
|
AlphaFold |
Q6UJY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023339
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159945
AA Change: I1175V
|
SMART Domains |
Protein: ENSMUSP00000124969 Gene: ENSMUSG00000033210 AA Change: I1175V
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 |
probably benign
Transcript: ENSMUST00000161347
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162151
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162774
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
Validation Efficiency |
97% (65/67) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apba1 |
T |
C |
19: 23,893,315 (GRCm39) |
S438P |
possibly damaging |
Het |
Atosa |
A |
G |
9: 74,926,265 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,057,069 (GRCm39) |
|
probably benign |
Het |
Axin2 |
T |
C |
11: 108,840,096 (GRCm39) |
Y735H |
probably damaging |
Het |
Bicd2 |
T |
A |
13: 49,528,790 (GRCm39) |
L184Q |
probably damaging |
Het |
Bub1 |
G |
A |
2: 127,650,959 (GRCm39) |
T618I |
probably benign |
Het |
Catsperg2 |
A |
G |
7: 29,424,445 (GRCm39) |
|
probably benign |
Het |
Ccdc73 |
T |
A |
2: 104,759,915 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
A |
T |
16: 59,386,019 (GRCm39) |
|
probably benign |
Het |
Dsp |
A |
G |
13: 38,381,340 (GRCm39) |
D2096G |
possibly damaging |
Het |
Eef2 |
C |
CN |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Elp3 |
A |
G |
14: 65,768,975 (GRCm39) |
*548Q |
probably null |
Het |
Eno4 |
A |
G |
19: 58,956,985 (GRCm39) |
D357G |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,164,085 (GRCm39) |
I348N |
possibly damaging |
Het |
Fgl2 |
A |
T |
5: 21,580,347 (GRCm39) |
S230C |
probably damaging |
Het |
Ginm1 |
T |
A |
10: 7,655,070 (GRCm39) |
E57D |
possibly damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,267,143 (GRCm39) |
|
probably null |
Het |
Herc1 |
G |
T |
9: 66,307,438 (GRCm39) |
G1044V |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,553,157 (GRCm39) |
T2511M |
probably damaging |
Het |
Iba57 |
C |
T |
11: 59,049,727 (GRCm39) |
A207T |
probably benign |
Het |
Itga9 |
T |
A |
9: 118,465,617 (GRCm39) |
I157N |
probably damaging |
Het |
Kalrn |
A |
G |
16: 34,177,541 (GRCm39) |
L208P |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,196,491 (GRCm39) |
T2A |
probably benign |
Het |
Kdm1b |
T |
A |
13: 47,217,593 (GRCm39) |
C351S |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,855,060 (GRCm39) |
E700G |
probably damaging |
Het |
Mmd |
C |
T |
11: 90,150,824 (GRCm39) |
|
probably benign |
Het |
Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
Morn3 |
T |
C |
5: 123,184,726 (GRCm39) |
Y38C |
probably damaging |
Het |
Nacc1 |
A |
T |
8: 85,402,854 (GRCm39) |
V313D |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,267,771 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,163,992 (GRCm39) |
K1989E |
possibly damaging |
Het |
Nlrp3 |
C |
T |
11: 59,455,954 (GRCm39) |
R917* |
probably null |
Het |
Nlrp4b |
T |
A |
7: 10,459,889 (GRCm39) |
Y463* |
probably null |
Het |
Perm1 |
A |
T |
4: 156,302,572 (GRCm39) |
D372V |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,847,848 (GRCm39) |
T1232A |
probably damaging |
Het |
Phldb3 |
G |
A |
7: 24,312,004 (GRCm39) |
R106Q |
probably benign |
Het |
Pld4 |
T |
A |
12: 112,734,291 (GRCm39) |
F386I |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,230,380 (GRCm39) |
L802Q |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,335,631 (GRCm39) |
|
probably null |
Het |
Ralgds |
T |
A |
2: 28,434,400 (GRCm39) |
|
probably null |
Het |
Rmdn2 |
A |
G |
17: 79,957,760 (GRCm39) |
E16G |
probably damaging |
Het |
Rnf111 |
A |
T |
9: 70,383,671 (GRCm39) |
S87R |
probably benign |
Het |
Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
Slco3a1 |
A |
T |
7: 74,154,074 (GRCm39) |
I166N |
probably benign |
Het |
Snx5 |
A |
T |
2: 144,101,112 (GRCm39) |
|
probably null |
Het |
Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
St8sia2 |
G |
T |
7: 73,593,038 (GRCm39) |
Y339* |
probably null |
Het |
St8sia2 |
A |
T |
7: 73,621,700 (GRCm39) |
W86R |
probably damaging |
Het |
Stk33 |
A |
G |
7: 108,878,876 (GRCm39) |
L491P |
possibly damaging |
Het |
Sult2a7 |
T |
C |
7: 14,199,133 (GRCm39) |
Y298C |
probably damaging |
Het |
Tdo2 |
T |
A |
3: 81,874,332 (GRCm39) |
N210I |
probably benign |
Het |
Thada |
A |
T |
17: 84,762,586 (GRCm39) |
N104K |
probably damaging |
Het |
Timm8b |
A |
T |
9: 50,516,330 (GRCm39) |
D61V |
possibly damaging |
Het |
Tshz1 |
G |
A |
18: 84,033,070 (GRCm39) |
T446I |
possibly damaging |
Het |
Ubap2l |
T |
C |
3: 89,946,235 (GRCm39) |
N123S |
possibly damaging |
Het |
Vmn1r48 |
T |
C |
6: 90,013,246 (GRCm39) |
E193G |
possibly damaging |
Het |
Vmn1r69 |
C |
T |
7: 10,314,327 (GRCm39) |
V135I |
probably benign |
Het |
Vmn2r103 |
G |
T |
17: 20,031,903 (GRCm39) |
G559V |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,038,992 (GRCm39) |
*856R |
probably null |
Het |
Vmn2r88 |
A |
G |
14: 51,656,157 (GRCm39) |
I798V |
possibly damaging |
Het |
Vsir |
C |
T |
10: 60,193,861 (GRCm39) |
A108V |
probably benign |
Het |
Zfp14 |
G |
T |
7: 29,737,753 (GRCm39) |
Q411K |
probably damaging |
Het |
Zfp236 |
A |
T |
18: 82,657,457 (GRCm39) |
M762K |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,011,762 (GRCm39) |
G1243S |
probably benign |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAAGATAACCCCTCAAAGCCCTGCC -3'
(R):5'- CCCACCCCAGTCTAAATACAGAAATAACATCA -3'
Sequencing Primer
(F):5'- gcgacagactacaacatcaac -3'
(R):5'- ATAACATCATTTGGAGAGTTGGTTG -3'
|
Posted On |
2013-05-09 |