Incidental Mutation 'R0611:Slc9c1'
ID |
54765 |
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 |
038800-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.398)
|
Stock # |
R0611 (G1)
|
Quality Score |
189 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45401965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 784
(D784G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
AlphaFold |
Q6UJY2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159945
AA Change: D784G
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124969 Gene: ENSMUSG00000033210 AA Change: D784G
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: 98.9%
- 10x: 97.5%
- 20x: 94.9%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
A |
7: 119,851,479 (GRCm39) |
M819K |
possibly damaging |
Het |
Adamtsl3 |
T |
G |
7: 82,178,120 (GRCm39) |
C528G |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,004,870 (GRCm39) |
K148E |
probably benign |
Het |
Akr1b1 |
A |
T |
6: 34,286,577 (GRCm39) |
D225E |
probably benign |
Het |
Alms1 |
C |
A |
6: 85,655,653 (GRCm39) |
Q2931K |
possibly damaging |
Het |
Ano3 |
T |
C |
2: 110,715,346 (GRCm39) |
K31E |
possibly damaging |
Het |
Cdc37 |
A |
G |
9: 21,053,537 (GRCm39) |
I242T |
probably damaging |
Het |
Celsr1 |
T |
A |
15: 85,816,524 (GRCm39) |
K1806N |
possibly damaging |
Het |
Clpb |
T |
A |
7: 101,436,956 (GRCm39) |
I707N |
possibly damaging |
Het |
Cntnap2 |
A |
T |
6: 47,072,483 (GRCm39) |
Y1017F |
possibly damaging |
Het |
Creb3l2 |
A |
T |
6: 37,311,416 (GRCm39) |
S458T |
probably benign |
Het |
Ctnnd2 |
C |
A |
15: 31,009,230 (GRCm39) |
T1109K |
possibly damaging |
Het |
Dcaf10 |
T |
A |
4: 45,373,011 (GRCm39) |
L425Q |
probably damaging |
Het |
Dlec1 |
A |
G |
9: 118,941,167 (GRCm39) |
E239G |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,390,020 (GRCm39) |
K742E |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,371,717 (GRCm39) |
R889S |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,599,222 (GRCm39) |
M1859K |
probably damaging |
Het |
Efcab7 |
T |
A |
4: 99,758,886 (GRCm39) |
N361K |
probably damaging |
Het |
Eps8l2 |
T |
C |
7: 140,935,646 (GRCm39) |
V139A |
probably damaging |
Het |
Fads3 |
T |
G |
19: 10,019,200 (GRCm39) |
H35Q |
probably damaging |
Het |
Fam163b |
C |
A |
2: 27,003,583 (GRCm39) |
V24F |
probably damaging |
Het |
Gm14496 |
A |
T |
2: 181,636,904 (GRCm39) |
T121S |
probably benign |
Het |
Gm4799 |
C |
T |
10: 82,790,563 (GRCm39) |
|
noncoding transcript |
Het |
Gm7168 |
A |
T |
17: 14,169,797 (GRCm39) |
D388V |
probably benign |
Het |
Gmeb1 |
A |
T |
4: 131,953,386 (GRCm39) |
L460* |
probably null |
Het |
Gpc6 |
T |
G |
14: 118,212,430 (GRCm39) |
F534V |
probably null |
Het |
Hectd3 |
A |
G |
4: 116,853,241 (GRCm39) |
D156G |
possibly damaging |
Het |
Itga6 |
T |
C |
2: 71,650,404 (GRCm39) |
I150T |
possibly damaging |
Het |
Kansl1 |
A |
G |
11: 104,229,012 (GRCm39) |
M863T |
probably benign |
Het |
Kcnb2 |
A |
T |
1: 15,780,664 (GRCm39) |
Y512F |
probably benign |
Het |
Klhdc2 |
A |
T |
12: 69,347,053 (GRCm39) |
M73L |
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,932,073 (GRCm39) |
T667A |
probably benign |
Het |
Lgsn |
A |
C |
1: 31,242,736 (GRCm39) |
I273L |
probably benign |
Het |
Lilra5 |
A |
G |
7: 4,245,232 (GRCm39) |
D292G |
probably benign |
Het |
Mrps27 |
C |
T |
13: 99,541,582 (GRCm39) |
R229C |
probably damaging |
Het |
Muc5b |
T |
G |
7: 141,416,173 (GRCm39) |
S3040A |
probably benign |
Het |
Nat14 |
T |
C |
7: 4,926,275 (GRCm39) |
S7P |
probably damaging |
Het |
Nfia |
A |
G |
4: 97,671,694 (GRCm39) |
I135V |
possibly damaging |
Het |
Nkd1 |
G |
A |
8: 89,248,944 (GRCm39) |
A30T |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,202,903 (GRCm39) |
D1370G |
probably null |
Het |
Or1j15 |
C |
G |
2: 36,459,568 (GRCm39) |
|
probably null |
Het |
Or4k15c |
G |
A |
14: 50,321,310 (GRCm39) |
T276I |
probably damaging |
Het |
Or51k2 |
T |
C |
7: 103,596,400 (GRCm39) |
L209P |
probably damaging |
Het |
Or5p79 |
T |
A |
7: 108,221,494 (GRCm39) |
N158K |
possibly damaging |
Het |
Or8s10 |
T |
C |
15: 98,336,168 (GRCm39) |
S273P |
possibly damaging |
Het |
Orc1 |
C |
T |
4: 108,459,229 (GRCm39) |
A466V |
probably benign |
Het |
Otud7a |
T |
A |
7: 63,385,638 (GRCm39) |
D367E |
possibly damaging |
Het |
Pcdhb4 |
A |
G |
18: 37,441,263 (GRCm39) |
Y191C |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,762,828 (GRCm39) |
V3767A |
unknown |
Het |
Pclo |
T |
C |
5: 14,728,789 (GRCm39) |
|
probably benign |
Het |
Prmt1 |
A |
T |
7: 44,628,225 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
G |
12: 55,842,483 (GRCm39) |
F62S |
probably damaging |
Het |
Rangrf |
T |
C |
11: 68,863,518 (GRCm39) |
S163G |
probably benign |
Het |
Rgs12 |
C |
A |
5: 35,176,804 (GRCm39) |
A65E |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,830,436 (GRCm39) |
N577S |
probably damaging |
Het |
Septin11 |
A |
G |
5: 93,315,393 (GRCm39) |
H374R |
probably damaging |
Het |
Serpina5 |
T |
G |
12: 104,070,046 (GRCm39) |
N314K |
probably benign |
Het |
Sgce |
T |
C |
6: 4,689,621 (GRCm39) |
D395G |
probably damaging |
Het |
Slc26a9 |
A |
T |
1: 131,690,499 (GRCm39) |
N501I |
probably damaging |
Het |
Snapc2 |
A |
G |
8: 4,305,676 (GRCm39) |
D207G |
probably benign |
Het |
Stard9 |
G |
T |
2: 120,529,738 (GRCm39) |
M1998I |
probably benign |
Het |
Stk38 |
A |
C |
17: 29,194,907 (GRCm39) |
F280V |
possibly damaging |
Het |
Tas2r126 |
A |
G |
6: 42,412,025 (GRCm39) |
K186R |
probably damaging |
Het |
Tdp1 |
A |
C |
12: 99,875,970 (GRCm39) |
D307A |
probably benign |
Het |
Tead2 |
A |
G |
7: 44,866,674 (GRCm39) |
D11G |
probably damaging |
Het |
Tmco4 |
C |
A |
4: 138,747,383 (GRCm39) |
L211I |
probably damaging |
Het |
Tmem183a |
A |
G |
1: 134,280,115 (GRCm39) |
F255S |
probably damaging |
Het |
Tmem87a |
C |
T |
2: 120,205,929 (GRCm39) |
G349S |
possibly damaging |
Het |
Tpte |
G |
A |
8: 22,826,549 (GRCm39) |
E377K |
possibly damaging |
Het |
Trim32 |
T |
C |
4: 65,531,893 (GRCm39) |
F150S |
possibly damaging |
Het |
Trpc7 |
T |
A |
13: 57,035,636 (GRCm39) |
K99M |
probably damaging |
Het |
Ttc22 |
A |
G |
4: 106,491,381 (GRCm39) |
K195E |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,811,917 (GRCm39) |
P7S |
probably damaging |
Het |
Ubxn2a |
G |
A |
12: 4,930,700 (GRCm39) |
T220I |
probably damaging |
Het |
Ufd1 |
A |
G |
16: 18,633,626 (GRCm39) |
N17S |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,102,509 (GRCm39) |
S958P |
probably damaging |
Het |
Vmn1r202 |
T |
A |
13: 22,685,824 (GRCm39) |
M198L |
probably damaging |
Het |
Vmn2r84 |
G |
A |
10: 130,221,991 (GRCm39) |
A743V |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,213,007 (GRCm39) |
F891S |
probably damaging |
Het |
Zfp708 |
T |
C |
13: 67,218,375 (GRCm39) |
T495A |
probably benign |
Het |
Zfp81 |
A |
G |
17: 33,553,593 (GRCm39) |
I407T |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,843,874 (GRCm39) |
|
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 |
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 |
|
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'- ATCTCGTACTGCGGCCACAAAG -3'
(R):5'- AGGATGCAAAGGCACCTTCCAG -3'
Sequencing Primer
(F):5'- gccacaaagcagagaaagag -3'
(R):5'- CTTCCAGGAAGCTCCTAGTATG -3'
|
Posted On |
2013-07-11 |