Incidental Mutation 'R6277:Slc9c1'
| ID |
507749 |
| 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, Slc9a10, spermNHE |
| MMRRC Submission |
044447-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R6277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45535309-45607001 bp(+) (GRCm38) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
G to A
at 45606841 bp (GRCm38)
|
| 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: E1170K
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: E1170K
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (70/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,663,694 (GRCm38) |
Y105H |
possibly damaging |
Het |
| 4921539E11Rik |
A |
T |
4: 103,231,471 (GRCm38) |
Y179* |
probably null |
Het |
| Abca7 |
G |
C |
10: 80,006,158 (GRCm38) |
V1042L |
probably benign |
Het |
| Adck5 |
C |
A |
15: 76,593,263 (GRCm38) |
T99K |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,289,526 (GRCm38) |
T823A |
probably benign |
Het |
| Adra1d |
G |
T |
2: 131,561,163 (GRCm38) |
R336S |
probably damaging |
Het |
| Arhgap39 |
A |
T |
15: 76,735,137 (GRCm38) |
M749K |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,039,891 (GRCm38) |
R168G |
possibly damaging |
Het |
| Atxn10 |
A |
G |
15: 85,391,692 (GRCm38) |
T317A |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 71,027,901 (GRCm38) |
K22E |
possibly damaging |
Het |
| Cacna1b |
T |
G |
2: 24,730,796 (GRCm38) |
T281P |
probably damaging |
Het |
| Ccdc174 |
A |
T |
6: 91,880,291 (GRCm38) |
Q26L |
probably damaging |
Het |
| Celf3 |
T |
C |
3: 94,485,365 (GRCm38) |
C124R |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,437,306 (GRCm38) |
E1068G |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,997,259 (GRCm38) |
E1284D |
probably benign |
Het |
| Dcbld2 |
C |
T |
16: 58,465,503 (GRCm38) |
P675L |
probably damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,451,756 (GRCm38) |
Y392N |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,770,482 (GRCm38) |
H1193L |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 122,186,107 (GRCm38) |
F16L |
probably benign |
Het |
| Fam163b |
G |
T |
2: 27,112,751 (GRCm38) |
T78N |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 109,145,555 (GRCm38) |
I299K |
possibly damaging |
Het |
| Foxg1 |
A |
G |
12: 49,385,516 (GRCm38) |
N344S |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,733,247 (GRCm38) |
I202T |
probably damaging |
Het |
| Gm11595 |
G |
T |
11: 99,772,684 (GRCm38) |
P57T |
unknown |
Het |
| Gm11639 |
G |
C |
11: 105,010,322 (GRCm38) |
E4422D |
possibly damaging |
Het |
| Gm12258 |
G |
A |
11: 58,854,287 (GRCm38) |
V15M |
probably damaging |
Het |
| Gm15056 |
C |
T |
8: 20,900,898 (GRCm38) |
G40S |
probably damaging |
Het |
| Gnal |
C |
A |
18: 67,213,072 (GRCm38) |
H274Q |
probably damaging |
Het |
| Hormad2 |
A |
T |
11: 4,421,583 (GRCm38) |
|
probably null |
Het |
| Ighv7-2 |
A |
G |
12: 113,912,467 (GRCm38) |
I6T |
probably benign |
Het |
| Irf9 |
A |
G |
14: 55,607,652 (GRCm38) |
D323G |
probably benign |
Het |
| Klhl23 |
G |
T |
2: 69,833,752 (GRCm38) |
D482Y |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 39,106,010 (GRCm38) |
N1745S |
probably damaging |
Het |
| Lct |
T |
A |
1: 128,304,237 (GRCm38) |
Y625F |
probably benign |
Het |
| Lrrc26 |
T |
C |
2: 25,290,104 (GRCm38) |
V39A |
probably benign |
Het |
| Mllt6 |
G |
A |
11: 97,673,948 (GRCm38) |
A527T |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 48,198,901 (GRCm38) |
D93V |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,421,455 (GRCm38) |
D698G |
probably damaging |
Het |
| Or13p10 |
T |
A |
4: 118,666,323 (GRCm38) |
S269T |
probably benign |
Het |
| Pacsin1 |
T |
A |
17: 27,705,995 (GRCm38) |
|
probably null |
Het |
| Padi3 |
A |
T |
4: 140,791,161 (GRCm38) |
|
probably null |
Het |
| Pcdha8 |
T |
C |
18: 36,994,358 (GRCm38) |
I631T |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 30,082,945 (GRCm38) |
G315D |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 147,005,924 (GRCm38) |
D228E |
probably benign |
Het |
| Prag1 |
G |
T |
8: 36,146,591 (GRCm38) |
R1099L |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,363,653 (GRCm38) |
E421G |
probably damaging |
Het |
| Prr36 |
A |
G |
8: 4,214,746 (GRCm38) |
|
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,714,314 (GRCm38) |
S369P |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,876,180 (GRCm38) |
D441G |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,600,509 (GRCm38) |
T1513I |
possibly damaging |
Het |
| Smcr8 |
C |
T |
11: 60,778,809 (GRCm38) |
T261M |
probably benign |
Het |
| Spata17 |
G |
A |
1: 187,193,954 (GRCm38) |
R60* |
probably null |
Het |
| Speer4f1 |
A |
G |
5: 17,476,243 (GRCm38) |
R40G |
probably damaging |
Het |
| Spns3 |
A |
G |
11: 72,529,640 (GRCm38) |
V340A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,739,383 (GRCm38) |
I595V |
probably benign |
Het |
| Srms |
G |
A |
2: 181,206,245 (GRCm38) |
A489V |
possibly damaging |
Het |
| St3gal4 |
T |
C |
9: 35,053,262 (GRCm38) |
N169S |
probably damaging |
Het |
| Taar5 |
T |
A |
10: 23,971,271 (GRCm38) |
V189E |
probably damaging |
Het |
| Tbc1d32 |
G |
A |
10: 56,195,429 (GRCm38) |
P333L |
probably benign |
Het |
| Tet3 |
G |
T |
6: 83,368,084 (GRCm38) |
Y1790* |
probably null |
Het |
| Ticrr |
T |
A |
7: 79,694,696 (GRCm38) |
H1436Q |
probably benign |
Het |
| Top6bl |
G |
T |
19: 4,627,222 (GRCm38) |
S466* |
probably null |
Het |
| Ubl7 |
C |
T |
9: 57,923,272 (GRCm38) |
L334F |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 71,666,639 (GRCm38) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,699,169 (GRCm38) |
D1303G |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,290,980 (GRCm38) |
L842P |
possibly damaging |
Het |
| Vps35 |
G |
T |
8: 85,261,228 (GRCm38) |
Q765K |
possibly damaging |
Het |
| Zfp72 |
G |
T |
13: 74,372,524 (GRCm38) |
S145* |
probably null |
Het |
| Zgrf1 |
C |
T |
3: 127,598,812 (GRCm38) |
A1327V |
possibly damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,828,157 (GRCm38) |
S334R |
probably benign |
Het |
|
| Other mutations in Slc9c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Slc9c1
|
APN |
16 |
45,573,389 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL00510:Slc9c1
|
APN |
16 |
45,539,639 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00949:Slc9c1
|
APN |
16 |
45,593,358 (GRCm38) |
missense |
probably benign |
|
|
IGL01287:Slc9c1
|
APN |
16 |
45,584,448 (GRCm38) |
nonsense |
probably null |
|
|
IGL01536:Slc9c1
|
APN |
16 |
45,589,629 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01655:Slc9c1
|
APN |
16 |
45,582,972 (GRCm38) |
missense |
probably benign |
|
|
IGL01671:Slc9c1
|
APN |
16 |
45,560,315 (GRCm38) |
missense |
probably benign |
|
|
IGL01720:Slc9c1
|
APN |
16 |
45,555,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01758:Slc9c1
|
APN |
16 |
45,541,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02031:Slc9c1
|
APN |
16 |
45,599,470 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02321:Slc9c1
|
APN |
16 |
45,556,614 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02472:Slc9c1
|
APN |
16 |
45,580,142 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02516:Slc9c1
|
APN |
16 |
45,577,875 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02732:Slc9c1
|
APN |
16 |
45,550,185 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL02741:Slc9c1
|
APN |
16 |
45,581,598 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02795:Slc9c1
|
APN |
16 |
45,575,419 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03032:Slc9c1
|
APN |
16 |
45,543,261 (GRCm38) |
splice site |
probably benign |
|
|
IGL03062:Slc9c1
|
APN |
16 |
45,599,758 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL03184:Slc9c1
|
APN |
16 |
45,547,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03351:Slc9c1
|
APN |
16 |
45,543,168 (GRCm38) |
missense |
probably benign |
0.01 |
|
P0041:Slc9c1
|
UTSW |
16 |
45,550,161 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0052:Slc9c1
|
UTSW |
16 |
45,606,856 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0107:Slc9c1
|
UTSW |
16 |
45,575,420 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0255:Slc9c1
|
UTSW |
16 |
45,554,300 (GRCm38) |
missense |
probably benign |
0.25 |
|
R0316:Slc9c1
|
UTSW |
16 |
45,580,232 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R0437:Slc9c1
|
UTSW |
16 |
45,599,887 (GRCm38) |
splice site |
probably benign |
|
|
R0611:Slc9c1
|
UTSW |
16 |
45,581,602 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0624:Slc9c1
|
UTSW |
16 |
45,573,356 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0630:Slc9c1
|
UTSW |
16 |
45,543,120 (GRCm38) |
splice site |
probably benign |
|
|
R1106:Slc9c1
|
UTSW |
16 |
45,555,807 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1396:Slc9c1
|
UTSW |
16 |
45,573,347 (GRCm38) |
missense |
probably benign |
0.43 |
|
R1727:Slc9c1
|
UTSW |
16 |
45,601,961 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1732:Slc9c1
|
UTSW |
16 |
45,552,928 (GRCm38) |
missense |
probably benign |
0.21 |
|
R1754:Slc9c1
|
UTSW |
16 |
45,589,509 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1799:Slc9c1
|
UTSW |
16 |
45,554,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1802:Slc9c1
|
UTSW |
16 |
45,558,281 (GRCm38) |
missense |
probably benign |
|
|
R1813:Slc9c1
|
UTSW |
16 |
45,573,347 (GRCm38) |
missense |
probably benign |
0.43 |
|
R1972:Slc9c1
|
UTSW |
16 |
45,593,472 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1985:Slc9c1
|
UTSW |
16 |
45,550,106 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1995:Slc9c1
|
UTSW |
16 |
45,554,255 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2045:Slc9c1
|
UTSW |
16 |
45,580,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Slc9c1
|
UTSW |
16 |
45,593,464 (GRCm38) |
missense |
probably benign |
0.19 |
|
R2511:Slc9c1
|
UTSW |
16 |
45,544,736 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R3716:Slc9c1
|
UTSW |
16 |
45,580,219 (GRCm38) |
missense |
probably benign |
|
|
R3765:Slc9c1
|
UTSW |
16 |
45,590,881 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R3936:Slc9c1
|
UTSW |
16 |
45,606,830 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4051:Slc9c1
|
UTSW |
16 |
45,543,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4302:Slc9c1
|
UTSW |
16 |
45,544,791 (GRCm38) |
missense |
probably benign |
0.35 |
|
R4433:Slc9c1
|
UTSW |
16 |
45,599,466 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4651:Slc9c1
|
UTSW |
16 |
45,547,393 (GRCm38) |
makesense |
probably null |
|
|
R4928:Slc9c1
|
UTSW |
16 |
45,575,409 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4957:Slc9c1
|
UTSW |
16 |
45,544,831 (GRCm38) |
missense |
probably benign |
0.45 |
|
R4989:Slc9c1
|
UTSW |
16 |
45,593,437 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5478:Slc9c1
|
UTSW |
16 |
45,554,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5534:Slc9c1
|
UTSW |
16 |
45,556,614 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5898:Slc9c1
|
UTSW |
16 |
45,544,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5939:Slc9c1
|
UTSW |
16 |
45,547,668 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6110:Slc9c1
|
UTSW |
16 |
45,575,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6115:Slc9c1
|
UTSW |
16 |
45,555,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6286:Slc9c1
|
UTSW |
16 |
45,577,831 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7268:Slc9c1
|
UTSW |
16 |
45,550,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7272:Slc9c1
|
UTSW |
16 |
45,581,515 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7431:Slc9c1
|
UTSW |
16 |
45,593,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7573:Slc9c1
|
UTSW |
16 |
45,577,893 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7881:Slc9c1
|
UTSW |
16 |
45,582,969 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8207:Slc9c1
|
UTSW |
16 |
45,539,713 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8289:Slc9c1
|
UTSW |
16 |
45,582,981 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8302:Slc9c1
|
UTSW |
16 |
45,547,695 (GRCm38) |
missense |
probably benign |
|
|
R8328:Slc9c1
|
UTSW |
16 |
45,577,864 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8421:Slc9c1
|
UTSW |
16 |
45,593,371 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8691:Slc9c1
|
UTSW |
16 |
45,606,819 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8712:Slc9c1
|
UTSW |
16 |
45,560,283 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9128:Slc9c1
|
UTSW |
16 |
45,580,127 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9191:Slc9c1
|
UTSW |
16 |
45,599,781 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R9230:Slc9c1
|
UTSW |
16 |
45,577,912 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9248:Slc9c1
|
UTSW |
16 |
45,550,188 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9417:Slc9c1
|
UTSW |
16 |
45,593,485 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9519:Slc9c1
|
UTSW |
16 |
45,575,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9570:Slc9c1
|
UTSW |
16 |
45,560,342 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9686:Slc9c1
|
UTSW |
16 |
45,580,214 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9695:Slc9c1
|
UTSW |
16 |
45,547,663 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9742:Slc9c1
|
UTSW |
16 |
45,580,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
V8831:Slc9c1
|
UTSW |
16 |
45,577,899 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Z1176:Slc9c1
|
UTSW |
16 |
45,558,238 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
Z1177:Slc9c1
|
UTSW |
16 |
45,573,419 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGTGTCAGGTCCCACAC -3'
(R):5'- ATAACATCATTTGGAGAGTTGGTTG -3'
Sequencing Primer
(F):5'- CTGTTGTTGCGACAGACTACAAC -3'
(R):5'- GGTTAGTGTGAGATGCTTTAATTCAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation