Incidental Mutation 'R7431:Slc9c1'
| ID |
576501 |
| 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 |
045509-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R7431 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45413847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 992
(V992F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159945
AA Change: V992F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: V992F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
97% (77/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
CA |
C |
11: 110,018,252 (GRCm39) |
|
probably null |
Het |
| Abcf3 |
G |
T |
16: 20,377,539 (GRCm39) |
R510L |
probably benign |
Het |
| Abcg4 |
T |
A |
9: 44,185,997 (GRCm39) |
I625F |
possibly damaging |
Het |
| Adam22 |
A |
T |
5: 8,142,818 (GRCm39) |
S806T |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,010,129 (GRCm39) |
I718V |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,267,699 (GRCm39) |
|
probably null |
Het |
| Aldoart1 |
T |
A |
4: 72,769,678 (GRCm39) |
K377* |
probably null |
Het |
| Apc2 |
T |
A |
10: 80,138,017 (GRCm39) |
V100E |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,650,010 (GRCm39) |
D666E |
probably damaging |
Het |
| Atg4c |
A |
T |
4: 99,109,632 (GRCm39) |
I200F |
possibly damaging |
Het |
| Atp1a4 |
A |
G |
1: 172,078,474 (GRCm39) |
F255L |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,221,237 (GRCm39) |
T250S |
probably damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,273 (GRCm39) |
H10R |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,644,745 (GRCm39) |
R51W |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,868,248 (GRCm39) |
E366G |
possibly damaging |
Het |
| Clca4b |
A |
T |
3: 144,616,894 (GRCm39) |
S919T |
probably benign |
Het |
| Col5a3 |
T |
C |
9: 20,682,131 (GRCm39) |
*1740W |
probably null |
Het |
| Col6a5 |
A |
T |
9: 105,805,468 (GRCm39) |
I1146K |
unknown |
Het |
| Cpxm1 |
T |
C |
2: 130,235,966 (GRCm39) |
T399A |
probably benign |
Het |
| Cpz |
T |
C |
5: 35,668,486 (GRCm39) |
T375A |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,760,976 (GRCm39) |
V11D |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,993,906 (GRCm39) |
T189A |
probably benign |
Het |
| Desi2 |
C |
T |
1: 178,084,007 (GRCm39) |
Q52* |
probably null |
Het |
| Dhx15 |
A |
G |
5: 52,319,953 (GRCm39) |
V418A |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,650,967 (GRCm39) |
M978L |
probably damaging |
Het |
| Dpagt1 |
T |
A |
9: 44,237,384 (GRCm39) |
C17* |
probably null |
Het |
| Dph5 |
A |
T |
3: 115,686,381 (GRCm39) |
K52N |
possibly damaging |
Het |
| Dpp4 |
G |
T |
2: 62,182,582 (GRCm39) |
N566K |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,083,830 (GRCm39) |
Y94C |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,199,927 (GRCm39) |
T1049I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,306 (GRCm39) |
Y4421N |
possibly damaging |
Het |
| Fcrl2 |
C |
A |
3: 87,166,233 (GRCm39) |
A181S |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,984,219 (GRCm39) |
I135V |
possibly damaging |
Het |
| Glg1 |
G |
T |
8: 111,887,386 (GRCm39) |
N456K |
unknown |
Het |
| Gm10228 |
A |
G |
16: 88,838,101 (GRCm39) |
S68P |
unknown |
Het |
| Golga4 |
G |
A |
9: 118,388,799 (GRCm39) |
E1974K |
probably damaging |
Het |
| Heatr9 |
G |
T |
11: 83,410,094 (GRCm39) |
P49Q |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,280,517 (GRCm39) |
V662D |
probably damaging |
Het |
| Hs3st4 |
T |
C |
7: 123,582,513 (GRCm39) |
L37P |
probably damaging |
Het |
| Ifi205 |
A |
T |
1: 173,855,943 (GRCm39) |
M29K |
probably benign |
Het |
| Igkv1-35 |
C |
T |
6: 69,987,988 (GRCm39) |
V103M |
probably damaging |
Het |
| Klf13 |
T |
A |
7: 63,541,504 (GRCm39) |
K208* |
probably null |
Het |
| Klhl36 |
A |
G |
8: 120,597,121 (GRCm39) |
N274S |
probably benign |
Het |
| Mosmo |
T |
A |
7: 120,329,873 (GRCm39) |
L165I |
probably benign |
Het |
| Mtcl1 |
G |
A |
17: 66,649,901 (GRCm39) |
Q1855* |
probably null |
Het |
| Muc16 |
A |
G |
9: 18,519,289 (GRCm39) |
V208A |
|
Het |
| Nin |
T |
G |
12: 70,124,997 (GRCm39) |
R108S |
|
Het |
| Odad1 |
T |
G |
7: 45,578,670 (GRCm39) |
L81R |
probably damaging |
Het |
| Or13c7d |
T |
C |
4: 43,770,882 (GRCm39) |
N43S |
probably damaging |
Het |
| Polr1a |
G |
A |
6: 71,903,643 (GRCm39) |
V319I |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,320,282 (GRCm39) |
V337A |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,013,150 (GRCm39) |
|
probably null |
Het |
| R3hdm2 |
T |
A |
10: 127,294,016 (GRCm39) |
M170K |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,354,528 (GRCm39) |
I919T |
possibly damaging |
Het |
| Rimkla |
A |
G |
4: 119,335,008 (GRCm39) |
M125T |
probably benign |
Het |
| Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 109,950,957 (GRCm39) |
D1163E |
probably damaging |
Het |
| Scgb2b24 |
T |
C |
7: 33,438,674 (GRCm39) |
I13V |
probably benign |
Het |
| Scin |
G |
A |
12: 40,183,921 (GRCm39) |
H63Y |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,879,189 (GRCm39) |
T275A |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,805,256 (GRCm39) |
T144S |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,749,092 (GRCm39) |
K650I |
probably benign |
Het |
| Spag16 |
A |
T |
1: 69,963,031 (GRCm39) |
T393S |
unknown |
Het |
| Taf15 |
G |
A |
11: 83,395,779 (GRCm39) |
D495N |
unknown |
Het |
| Tas2r144 |
T |
A |
6: 42,192,908 (GRCm39) |
I216N |
probably damaging |
Het |
| Tbccd1 |
G |
T |
16: 22,644,563 (GRCm39) |
P271Q |
probably benign |
Het |
| Tcf4 |
C |
A |
18: 69,480,249 (GRCm39) |
|
probably null |
Het |
| Thap4 |
A |
T |
1: 93,678,223 (GRCm39) |
S188T |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,191,470 (GRCm39) |
V493A |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,850,278 (GRCm39) |
V1262A |
possibly damaging |
Het |
| Tspan2 |
T |
A |
3: 102,657,107 (GRCm39) |
W35R |
probably damaging |
Het |
| Usp39 |
G |
T |
6: 72,313,251 (GRCm39) |
T313N |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,306 (GRCm39) |
L638Q |
probably damaging |
Het |
| Vps29 |
T |
C |
5: 122,492,541 (GRCm39) |
V2A |
probably benign |
Het |
| Wrap53 |
A |
G |
11: 69,469,313 (GRCm39) |
F148L |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,897,712 (GRCm39) |
Y404C |
probably damaging |
Het |
| Zrsr2-ps1 |
A |
G |
11: 22,923,580 (GRCm39) |
E118G |
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 |
|
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 |
|
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'- GGGTGACATAAATTAACCAGCG -3'
(R):5'- TGTGGTAGGCACACTTTTGAAAC -3'
Sequencing Primer
(F):5'- GTGACATAAATTAACCAGCGTATGTG -3'
(R):5'- AGCTAGCCTCTGAATCCAGTGATG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation