Incidental Mutation 'R1972:Slc9c1'
| ID |
221143 |
| 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 |
039985-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R1972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45413835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 988
(T988A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159945
AA Change: T988A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: T988A
| 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 |
0.0989 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (77/77) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
A |
G |
8: 112,717,050 (GRCm39) |
|
probably benign |
Het |
| Bbs2 |
A |
G |
8: 94,807,805 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
C |
3: 97,114,518 (GRCm39) |
D1035E |
probably damaging |
Het |
| Bmpr2 |
A |
G |
1: 59,852,762 (GRCm39) |
E31G |
possibly damaging |
Het |
| Borcs5 |
A |
G |
6: 134,687,137 (GRCm39) |
D164G |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,791,375 (GRCm39) |
R181G |
probably damaging |
Het |
| Ccdc113 |
A |
T |
8: 96,264,874 (GRCm39) |
H128L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Chat |
C |
T |
14: 32,146,148 (GRCm39) |
V342I |
probably benign |
Het |
| Chrm4 |
C |
T |
2: 91,757,838 (GRCm39) |
A82V |
probably benign |
Het |
| Cyp2d22 |
A |
T |
15: 82,260,028 (GRCm39) |
M52K |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,039,014 (GRCm39) |
V54A |
probably benign |
Het |
| Dgka |
C |
T |
10: 128,556,335 (GRCm39) |
G717D |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 30,987,348 (GRCm39) |
W3550* |
probably null |
Het |
| Eif2ak1 |
A |
G |
5: 143,821,532 (GRCm39) |
T283A |
probably benign |
Het |
| Entrep2 |
A |
T |
7: 64,425,516 (GRCm39) |
I192N |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,793,617 (GRCm39) |
Y1173F |
probably benign |
Het |
| Flt1 |
G |
A |
5: 147,591,903 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,438,216 (GRCm39) |
K647R |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,541,744 (GRCm39) |
V157A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,001,794 (GRCm39) |
I884F |
probably damaging |
Het |
| Ift56 |
C |
A |
6: 38,387,738 (GRCm39) |
N396K |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,177 (GRCm39) |
E776G |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,604,036 (GRCm39) |
S235P |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,991,235 (GRCm39) |
|
probably null |
Het |
| Isoc2a |
T |
A |
7: 4,895,086 (GRCm39) |
D171E |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kcnk12 |
T |
C |
17: 88,104,560 (GRCm39) |
D108G |
possibly damaging |
Het |
| Klra9 |
A |
T |
6: 130,159,345 (GRCm39) |
|
probably null |
Het |
| Lgmn |
A |
G |
12: 102,362,080 (GRCm39) |
|
probably benign |
Het |
| Morf4l1 |
A |
T |
9: 89,977,267 (GRCm39) |
|
probably benign |
Het |
| Mthfr |
T |
C |
4: 148,136,384 (GRCm39) |
I380T |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,387,404 (GRCm39) |
I436V |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,349,278 (GRCm39) |
V1350A |
probably damaging |
Het |
| Neil2 |
A |
T |
14: 63,423,526 (GRCm39) |
C36S |
possibly damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,753 (GRCm39) |
V897A |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,379,501 (GRCm39) |
M8L |
probably damaging |
Het |
| Nop2 |
A |
G |
6: 125,111,602 (GRCm39) |
T112A |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,345,785 (GRCm39) |
T608S |
probably damaging |
Het |
| Nuak2 |
A |
T |
1: 132,258,340 (GRCm39) |
H257L |
probably damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,136 (GRCm39) |
F218L |
probably benign |
Het |
| Or2ag12 |
T |
C |
7: 106,277,426 (GRCm39) |
D89G |
probably benign |
Het |
| Or4c113 |
A |
T |
2: 88,884,891 (GRCm39) |
M293K |
probably benign |
Het |
| Or52e8 |
T |
C |
7: 104,625,106 (GRCm39) |
I33V |
possibly damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,476 (GRCm39) |
V35D |
probably damaging |
Het |
| Or5b119 |
T |
C |
19: 13,457,058 (GRCm39) |
N168S |
probably benign |
Het |
| Or8b40 |
T |
A |
9: 38,027,863 (GRCm39) |
M257K |
possibly damaging |
Het |
| Pde1a |
T |
C |
2: 79,696,065 (GRCm39) |
E358G |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,211,581 (GRCm39) |
S237R |
probably damaging |
Het |
| Pithd1 |
T |
C |
4: 135,714,340 (GRCm39) |
D36G |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,976 (GRCm39) |
F449S |
probably benign |
Het |
| Prr11 |
G |
A |
11: 86,989,580 (GRCm39) |
R264C |
possibly damaging |
Het |
| Rbm43 |
A |
T |
2: 51,815,548 (GRCm39) |
H224Q |
probably benign |
Het |
| Rfx5 |
C |
T |
3: 94,864,603 (GRCm39) |
L250F |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,103,982 (GRCm39) |
I160L |
probably benign |
Het |
| Rorb |
T |
A |
19: 18,929,567 (GRCm39) |
Q393H |
probably damaging |
Het |
| Rpl13a |
T |
A |
7: 44,775,419 (GRCm39) |
K368* |
probably null |
Het |
| Scaf8 |
T |
G |
17: 3,219,646 (GRCm39) |
S276R |
unknown |
Het |
| Scube2 |
A |
T |
7: 109,408,421 (GRCm39) |
N675K |
probably benign |
Het |
| Sec22c |
A |
T |
9: 121,517,320 (GRCm39) |
M126K |
possibly damaging |
Het |
| Serpinb11 |
T |
C |
1: 107,297,210 (GRCm39) |
F29L |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,828,337 (GRCm39) |
F1217S |
probably damaging |
Het |
| Slc18a2 |
A |
G |
19: 59,263,085 (GRCm39) |
D294G |
possibly damaging |
Het |
| Smndc1 |
A |
C |
19: 53,371,986 (GRCm39) |
|
probably null |
Het |
| Sned1 |
G |
A |
1: 93,192,795 (GRCm39) |
G361S |
probably damaging |
Het |
| Spatc1 |
A |
T |
15: 76,169,075 (GRCm39) |
|
probably null |
Het |
| Stab2 |
A |
T |
10: 86,796,180 (GRCm39) |
C356S |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,142,135 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,681,626 (GRCm39) |
E2668G |
probably damaging |
Het |
| Tigar |
A |
G |
6: 127,064,889 (GRCm39) |
V253A |
possibly damaging |
Het |
| Tmc2 |
T |
A |
2: 130,056,584 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,769 (GRCm39) |
Y189F |
probably damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,680 (GRCm39) |
D221G |
probably damaging |
Het |
| Xkr5 |
C |
T |
8: 18,991,997 (GRCm39) |
V131M |
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 |
|
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'- TGGGTGACATAAATTAACCAGCG -3'
(R):5'- TTGAAACTATTTTGCTAGGGCG -3'
Sequencing Primer
(F):5'- GTGACATAAATTAACCAGCGTATGTG -3'
(R):5'- AGCTAGCCTCTGAATCCAGTGATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation