Incidental Mutation 'R0316:Slc9c1'
| ID |
34226 |
| 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 |
038526-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R0316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45400595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 735
(R735Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159945
AA Change: R735Q
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: R735Q
| 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: ENSMUST00000162151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162774
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.2%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,888,765 (GRCm39) |
F276I |
probably damaging |
Het |
| Ado |
A |
G |
10: 67,384,548 (GRCm39) |
L19P |
possibly damaging |
Het |
| Ago2 |
T |
C |
15: 73,002,725 (GRCm39) |
H169R |
probably damaging |
Het |
| Asic1 |
G |
A |
15: 99,569,819 (GRCm39) |
A47T |
probably benign |
Het |
| Atg16l2 |
A |
T |
7: 100,942,603 (GRCm39) |
I364N |
probably damaging |
Het |
| C130050O18Rik |
G |
A |
5: 139,400,313 (GRCm39) |
R122Q |
probably damaging |
Het |
| Capn7 |
T |
A |
14: 31,069,766 (GRCm39) |
C197S |
probably benign |
Het |
| Casp16 |
T |
C |
17: 23,771,066 (GRCm39) |
D113G |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,366,999 (GRCm39) |
V235D |
probably damaging |
Het |
| Clca4a |
G |
T |
3: 144,659,525 (GRCm39) |
T777K |
probably damaging |
Het |
| Col17a1 |
A |
G |
19: 47,673,972 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
A |
9: 20,686,621 (GRCm39) |
D1335Y |
unknown |
Het |
| Cpxm1 |
T |
C |
2: 130,235,091 (GRCm39) |
E576G |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,253,808 (GRCm39) |
S182P |
probably damaging |
Het |
| Dclk1 |
C |
T |
3: 55,410,313 (GRCm39) |
S616L |
probably damaging |
Het |
| Dll4 |
C |
A |
2: 119,161,634 (GRCm39) |
D405E |
probably damaging |
Het |
| Dnah1 |
G |
A |
14: 31,000,108 (GRCm39) |
R2462C |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,564,882 (GRCm39) |
Y2594N |
possibly damaging |
Het |
| Ess2 |
G |
A |
16: 17,727,958 (GRCm39) |
P103S |
probably benign |
Het |
| Fam110a |
C |
A |
2: 151,812,006 (GRCm39) |
A255S |
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,246,397 (GRCm39) |
R502W |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
| Gm1527 |
T |
C |
3: 28,969,923 (GRCm39) |
S342P |
probably damaging |
Het |
| Gm19668 |
A |
T |
10: 77,634,564 (GRCm39) |
|
probably benign |
Het |
| Gm5901 |
A |
T |
7: 105,026,522 (GRCm39) |
T97S |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,547,420 (GRCm39) |
Y1546C |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,249,347 (GRCm39) |
S619T |
probably damaging |
Het |
| Itih2 |
C |
A |
2: 10,110,057 (GRCm39) |
Q565H |
possibly damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,464 (GRCm39) |
N386K |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,652,934 (GRCm39) |
M218T |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,094,012 (GRCm39) |
S12G |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mex3d |
G |
T |
10: 80,217,505 (GRCm39) |
P571T |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,085,482 (GRCm39) |
Y1538D |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,361,584 (GRCm39) |
I184T |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5b99 |
T |
A |
19: 12,976,766 (GRCm39) |
C139S |
probably damaging |
Het |
| Or5w18 |
T |
C |
2: 87,633,525 (GRCm39) |
F264S |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,185,149 (GRCm39) |
|
silent |
Het |
| Pdcd11 |
T |
C |
19: 47,101,611 (GRCm39) |
V932A |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,625,032 (GRCm39) |
D276G |
probably damaging |
Het |
| Pkia |
T |
A |
3: 7,502,499 (GRCm39) |
D25E |
probably damaging |
Het |
| Plxna2 |
A |
C |
1: 194,326,458 (GRCm39) |
S131R |
probably damaging |
Het |
| Prelid1 |
T |
C |
13: 55,472,220 (GRCm39) |
V132A |
possibly damaging |
Het |
| Psma3 |
T |
C |
12: 71,030,163 (GRCm39) |
Y59H |
probably benign |
Het |
| Ptchd3 |
A |
C |
11: 121,732,916 (GRCm39) |
E602A |
possibly damaging |
Het |
| Ptpro |
T |
C |
6: 137,353,987 (GRCm39) |
V121A |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,449,239 (GRCm39) |
L878P |
probably damaging |
Het |
| Pxn |
G |
A |
5: 115,692,027 (GRCm39) |
G370S |
probably damaging |
Het |
| Rcn2 |
G |
T |
9: 55,949,453 (GRCm39) |
A40S |
probably benign |
Het |
| Rnf215 |
A |
G |
11: 4,089,760 (GRCm39) |
N258D |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,423,622 (GRCm39) |
T28A |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,997,795 (GRCm39) |
V1100E |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,291,173 (GRCm39) |
I1858F |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,929,788 (GRCm39) |
T449A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,072,737 (GRCm39) |
W2191R |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,948,055 (GRCm39) |
R405H |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,948,137 (GRCm39) |
Y859H |
possibly damaging |
Het |
| Tonsl |
A |
G |
15: 76,513,500 (GRCm39) |
S1245P |
possibly damaging |
Het |
| Tpcn1 |
G |
A |
5: 120,677,324 (GRCm39) |
T661M |
probably damaging |
Het |
| Trap1 |
A |
G |
16: 3,863,424 (GRCm39) |
F533L |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
| Vax2 |
T |
C |
6: 83,688,426 (GRCm39) |
S50P |
possibly damaging |
Het |
| Vmn1r5 |
A |
C |
6: 56,962,784 (GRCm39) |
E153A |
probably benign |
Het |
| Vmn2r14 |
G |
T |
5: 109,366,762 (GRCm39) |
P486Q |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,802,827 (GRCm39) |
F246I |
probably damaging |
Het |
| Zc3h10 |
C |
A |
10: 128,380,624 (GRCm39) |
E244D |
probably damaging |
Het |
| Zdhhc18 |
T |
A |
4: 133,340,966 (GRCm39) |
K265* |
probably null |
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 |
|
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'- TGTATCAACAGGTGGCAGCAATGAG -3'
(R):5'- GCATTCTGCACCAAAAGGGAAAGC -3'
Sequencing Primer
(F):5'- TGGCAGCAATGAGGAAGG -3'
(R):5'- CCGTGATGAGTGCCTATAGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation