Incidental Mutation 'R2045:Slc9c1'
| ID |
221884 |
| 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 |
040052-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R2045 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45400613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 741
(R741H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159945
AA Change: R741H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: R741H
| 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
|
| Meta Mutation Damage Score |
0.1961 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (74/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
C |
T |
19: 34,220,799 (GRCm39) |
G303E |
probably damaging |
Het |
| Adamts1 |
A |
T |
16: 85,592,864 (GRCm39) |
Y515N |
probably damaging |
Het |
| Ankef1 |
T |
C |
2: 136,396,658 (GRCm39) |
V695A |
probably benign |
Het |
| Ankrd63 |
C |
A |
2: 118,533,834 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
| Atf2 |
A |
C |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
| Atp5pb |
T |
C |
3: 105,851,190 (GRCm39) |
|
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bms1 |
A |
C |
6: 118,369,588 (GRCm39) |
L960W |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,633,098 (GRCm39) |
V977A |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,839,121 (GRCm39) |
S6P |
possibly damaging |
Het |
| Capn8 |
A |
G |
1: 182,440,951 (GRCm39) |
T462A |
probably benign |
Het |
| Cd226 |
T |
C |
18: 89,225,486 (GRCm39) |
S128P |
probably benign |
Het |
| Cd33 |
G |
T |
7: 43,179,316 (GRCm39) |
H278N |
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,392,814 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,874,671 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
G |
1: 134,078,882 (GRCm39) |
I397M |
probably benign |
Het |
| Cic |
C |
A |
7: 24,970,961 (GRCm39) |
Q231K |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,630,924 (GRCm39) |
V312A |
probably damaging |
Het |
| Cngb1 |
T |
A |
8: 96,023,713 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
C |
11: 46,140,616 (GRCm39) |
I430V |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,503,485 (GRCm39) |
E1613G |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,244,106 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,160,171 (GRCm39) |
F646I |
probably damaging |
Het |
| Eef1b2 |
A |
T |
1: 63,218,646 (GRCm39) |
K144* |
probably null |
Het |
| Erap1 |
T |
C |
13: 74,817,569 (GRCm39) |
V137A |
probably benign |
Het |
| Far1 |
A |
T |
7: 113,138,478 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,223,730 (GRCm39) |
C807S |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,048,231 (GRCm39) |
K209R |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
T |
3: 53,443,165 (GRCm39) |
V2533D |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,138,794 (GRCm39) |
M839T |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,891,310 (GRCm39) |
S303G |
probably benign |
Het |
| Insyn2a |
T |
G |
7: 134,520,159 (GRCm39) |
K124Q |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
T |
G |
11: 104,514,239 (GRCm39) |
S27A |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,088,051 (GRCm39) |
D1015N |
probably damaging |
Het |
| Krt7 |
A |
T |
15: 101,321,365 (GRCm39) |
|
probably null |
Het |
| Krtdap |
T |
A |
7: 30,490,010 (GRCm39) |
F80L |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,437,841 (GRCm39) |
T84S |
probably benign |
Het |
| Lipi |
G |
A |
16: 75,347,087 (GRCm39) |
T444I |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,048,003 (GRCm39) |
E316V |
probably damaging |
Het |
| Lypd1 |
G |
A |
1: 125,838,272 (GRCm39) |
|
probably benign |
Het |
| Med12l |
A |
T |
3: 59,169,731 (GRCm39) |
K1632* |
probably null |
Het |
| Mrgpra9 |
A |
T |
7: 46,885,583 (GRCm39) |
M28K |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,774,023 (GRCm39) |
K1291E |
probably benign |
Het |
| Nek4 |
T |
A |
14: 30,675,880 (GRCm39) |
W72R |
probably damaging |
Het |
| Nudt8 |
T |
C |
19: 4,051,899 (GRCm39) |
V170A |
probably damaging |
Het |
| Oosp3 |
T |
A |
19: 11,676,733 (GRCm39) |
Y31N |
probably benign |
Het |
| Padi2 |
A |
T |
4: 140,665,241 (GRCm39) |
R449W |
probably damaging |
Het |
| Pcf11 |
G |
T |
7: 92,311,087 (GRCm39) |
N300K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,558,508 (GRCm39) |
D633G |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,634,232 (GRCm39) |
W271R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,512 (GRCm39) |
V1276A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,343,050 (GRCm39) |
N176Y |
probably damaging |
Het |
| Pop5 |
T |
G |
5: 115,376,271 (GRCm39) |
V33G |
possibly damaging |
Het |
| Prkag2 |
A |
G |
5: 25,152,580 (GRCm39) |
F175L |
possibly damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,781,337 (GRCm39) |
D79E |
possibly damaging |
Het |
| Rab32 |
T |
G |
10: 10,426,577 (GRCm39) |
D123A |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,402,009 (GRCm39) |
K513E |
possibly damaging |
Het |
| Senp1 |
A |
T |
15: 97,957,825 (GRCm39) |
F358I |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,012,647 (GRCm39) |
L83P |
probably damaging |
Het |
| Smad4 |
A |
T |
18: 73,782,877 (GRCm39) |
Y352* |
probably null |
Het |
| Tamm41 |
T |
A |
6: 114,993,056 (GRCm39) |
Q232H |
probably benign |
Het |
| Tbx6 |
T |
A |
7: 126,382,055 (GRCm39) |
L131Q |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,045,313 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,034,964 (GRCm39) |
A108S |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,948,470 (GRCm39) |
Y215C |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,091,266 (GRCm39) |
V31M |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,258,177 (GRCm39) |
M1525T |
possibly damaging |
Het |
| Vax2 |
G |
A |
6: 83,688,252 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,839,104 (GRCm39) |
I2147L |
probably benign |
Het |
| Zbtb7a |
C |
A |
10: 80,980,244 (GRCm39) |
A146E |
probably benign |
Het |
| Zfp287 |
A |
G |
11: 62,618,395 (GRCm39) |
L157P |
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 |
|
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'- TCAACAGGTGGCAGCAATG -3'
(R):5'- GAGTGCCTATAGCTCTGTGAG -3'
Sequencing Primer
(F):5'- CAGGTGGCAGCAATGAGGAAG -3'
(R):5'- GAAGGTAGCTGAATGGCTT -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation