Incidental Mutation 'R2146:Slc9c1'
ID |
233866 |
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 |
040149-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.463)
|
Stock # |
R2146 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45535309-45607001 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45593464 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 985
(Y985C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
AlphaFold |
Q6UJY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159945
AA Change: Y985C
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124969 Gene: ENSMUSG00000033210 AA Change: Y985C
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 |
0.3642  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
99% (84/85) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
T |
6: 124,347,844 (GRCm38) |
|
probably null |
Het |
4933406M09Rik |
T |
A |
1: 134,390,513 (GRCm38) |
M341K |
probably damaging |
Het |
9530002B09Rik |
T |
A |
4: 122,689,405 (GRCm38) |
C13* |
probably null |
Het |
Abca12 |
C |
A |
1: 71,263,488 (GRCm38) |
V2191L |
probably benign |
Het |
Adamts18 |
G |
C |
8: 113,845,003 (GRCm38) |
A116G |
possibly damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,489,754 (GRCm38) |
|
probably null |
Het |
Arfgef1 |
C |
T |
1: 10,199,878 (GRCm38) |
A349T |
probably benign |
Het |
Arhgap6 |
A |
G |
X: 168,796,500 (GRCm38) |
T94A |
probably benign |
Het |
Arhgef5 |
T |
C |
6: 43,283,318 (GRCm38) |
S1413P |
probably damaging |
Het |
Atg4c |
C |
A |
4: 99,221,226 (GRCm38) |
N143K |
possibly damaging |
Het |
BC005561 |
T |
C |
5: 104,518,991 (GRCm38) |
F460L |
probably benign |
Het |
C1qtnf12 |
A |
G |
4: 155,966,465 (GRCm38) |
N297S |
probably benign |
Het |
Cadps2 |
G |
T |
6: 23,838,999 (GRCm38) |
|
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,747,520 (GRCm38) |
H535N |
possibly damaging |
Het |
Ccdc57 |
A |
G |
11: 120,885,225 (GRCm38) |
|
probably benign |
Het |
Cd163 |
A |
G |
6: 124,309,208 (GRCm38) |
H239R |
probably damaging |
Het |
Ceacam2 |
G |
T |
7: 25,527,943 (GRCm38) |
C166* |
probably null |
Het |
Ces5a |
T |
A |
8: 93,534,699 (GRCm38) |
E33D |
probably benign |
Het |
Chl1 |
T |
C |
6: 103,715,401 (GRCm38) |
|
probably null |
Het |
Chsy3 |
G |
A |
18: 59,176,472 (GRCm38) |
V266I |
probably benign |
Het |
Cpa5 |
G |
T |
6: 30,626,822 (GRCm38) |
R251L |
probably damaging |
Het |
Cps1 |
A |
C |
1: 67,152,379 (GRCm38) |
|
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,741,236 (GRCm38) |
|
probably null |
Het |
Cstf1 |
T |
C |
2: 172,375,763 (GRCm38) |
Y99H |
probably damaging |
Het |
Cyp2j11 |
G |
A |
4: 96,316,358 (GRCm38) |
T317I |
probably damaging |
Het |
Dennd3 |
A |
T |
15: 73,555,060 (GRCm38) |
H762L |
probably benign |
Het |
Dennd3 |
C |
T |
15: 73,523,496 (GRCm38) |
T146M |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,515,761 (GRCm38) |
M552V |
probably benign |
Het |
Dnajc22 |
T |
C |
15: 99,104,383 (GRCm38) |
V303A |
probably benign |
Het |
Dtx2 |
T |
G |
5: 136,030,610 (GRCm38) |
L458R |
probably benign |
Het |
Elmsan1 |
G |
T |
12: 84,173,035 (GRCm38) |
P382T |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,990,512 (GRCm38) |
F3072L |
probably benign |
Het |
Fgf5 |
T |
C |
5: 98,275,550 (GRCm38) |
*265R |
probably null |
Het |
Fndc11 |
A |
G |
2: 181,222,125 (GRCm38) |
E241G |
probably damaging |
Het |
Glb1 |
T |
C |
9: 114,450,648 (GRCm38) |
Y375H |
probably damaging |
Het |
Gm4922 |
T |
G |
10: 18,783,516 (GRCm38) |
Q486P |
probably benign |
Het |
Gm5786 |
A |
T |
12: 59,081,298 (GRCm38) |
|
noncoding transcript |
Het |
Hepacam2 |
A |
T |
6: 3,463,378 (GRCm38) |
|
probably benign |
Het |
Ints9 |
G |
A |
14: 64,986,343 (GRCm38) |
G89R |
possibly damaging |
Het |
Iqcm |
T |
A |
8: 75,888,613 (GRCm38) |
W441R |
probably damaging |
Het |
Itga10 |
G |
T |
3: 96,653,723 (GRCm38) |
G635W |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,651,492 (GRCm38) |
L382P |
possibly damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,779,090 (GRCm38) |
Y554H |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,184,309 (GRCm38) |
K1649R |
probably damaging |
Het |
L1cam |
A |
T |
X: 73,861,141 (GRCm38) |
F536Y |
probably damaging |
Het |
Magee1 |
A |
T |
X: 105,122,958 (GRCm38) |
D783V |
probably damaging |
Het |
Marveld3 |
A |
T |
8: 109,959,802 (GRCm38) |
V144E |
probably benign |
Het |
Mcam |
T |
C |
9: 44,136,635 (GRCm38) |
V59A |
probably damaging |
Het |
Mdga2 |
C |
T |
12: 66,868,741 (GRCm38) |
E47K |
probably damaging |
Het |
Metrn |
T |
A |
17: 25,796,627 (GRCm38) |
E38V |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,103,718 (GRCm38) |
L314P |
probably benign |
Het |
Mospd2 |
A |
G |
X: 164,956,477 (GRCm38) |
|
probably null |
Het |
Mycbp2 |
G |
A |
14: 103,155,922 (GRCm38) |
H3068Y |
probably damaging |
Het |
Myh6 |
C |
T |
14: 54,953,771 (GRCm38) |
R871H |
probably damaging |
Het |
Nup214 |
C |
T |
2: 32,034,466 (GRCm38) |
S1669F |
probably damaging |
Het |
Olfr1104 |
T |
A |
2: 87,021,665 (GRCm38) |
N293I |
probably damaging |
Het |
Olfr1465 |
T |
C |
19: 13,314,121 (GRCm38) |
T55A |
probably benign |
Het |
Olfr156 |
A |
G |
4: 43,821,178 (GRCm38) |
F61S |
probably damaging |
Het |
Parvb |
A |
G |
15: 84,232,168 (GRCm38) |
K33E |
possibly damaging |
Het |
Pdcd11 |
A |
G |
19: 47,104,752 (GRCm38) |
M490V |
probably benign |
Het |
Pet2 |
T |
C |
X: 89,406,277 (GRCm38) |
D82G |
possibly damaging |
Het |
Pkd2 |
A |
C |
5: 104,455,590 (GRCm38) |
|
probably benign |
Het |
Reps1 |
T |
A |
10: 18,093,313 (GRCm38) |
D206E |
probably benign |
Het |
Rimkla |
T |
A |
4: 119,474,582 (GRCm38) |
M140L |
possibly damaging |
Het |
Rnf13 |
T |
G |
3: 57,802,486 (GRCm38) |
I150S |
probably null |
Het |
Rxfp4 |
C |
T |
3: 88,652,893 (GRCm38) |
A84T |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,605,927 (GRCm38) |
D237E |
probably benign |
Het |
Sgo2b |
T |
G |
8: 63,928,023 (GRCm38) |
T592P |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,205,152 (GRCm38) |
I228N |
probably damaging |
Het |
Slc39a1 |
T |
G |
3: 90,249,450 (GRCm38) |
H104Q |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,735,180 (GRCm38) |
V230A |
probably benign |
Het |
Slc9a3 |
A |
G |
13: 74,121,603 (GRCm38) |
E30G |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,230,932 (GRCm38) |
F298S |
probably damaging |
Het |
Tada2a |
T |
C |
11: 84,079,629 (GRCm38) |
D432G |
probably damaging |
Het |
Tmem131 |
C |
A |
1: 36,812,609 (GRCm38) |
V938L |
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,589,036 (GRCm38) |
V105A |
probably benign |
Het |
Ttc7 |
T |
C |
17: 87,346,707 (GRCm38) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,897,188 (GRCm38) |
|
probably benign |
Het |
Usp16 |
T |
C |
16: 87,473,187 (GRCm38) |
|
probably null |
Het |
Usp36 |
A |
G |
11: 118,268,665 (GRCm38) |
L486S |
probably benign |
Het |
Uty |
T |
C |
Y: 1,239,816 (GRCm38) |
I72V |
probably benign |
Het |
Vps51 |
A |
G |
19: 6,068,134 (GRCm38) |
V777A |
probably benign |
Het |
Zfp160 |
A |
G |
17: 21,026,982 (GRCm38) |
K598R |
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,890,332 (GRCm38) |
N535D |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,258,664 (GRCm38) |
T946A |
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 |
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 |
R6277:Slc9c1
|
UTSW |
16 |
45,606,841 (GRCm38) |
utr 3 prime |
probably benign |
|
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'- GGGTGACATAAATTAACCAGCG -3'
(R):5'- CATTGTGGTAGGCACACTTTTG -3'
Sequencing Primer
(F):5'- GTGACATAAATTAACCAGCGTATGTG -3'
(R):5'- AGCTAGCCTCTGAATCCAGTGATG -3'
|
Posted On |
2014-10-01 |