Incidental Mutation 'R5534:Slc9c1'
| ID |
434746 |
| 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 |
043092-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R5534 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45376977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 429
(V429E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159945
AA Change: V429E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: V429E
| 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 |
unknown
Transcript: ENSMUST00000162151
AA Change: V400E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162774
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
A |
8: 25,155,530 (GRCm39) |
D163V |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,740,947 (GRCm39) |
|
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,814,442 (GRCm39) |
E355G |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,232,491 (GRCm39) |
N172S |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,510,231 (GRCm39) |
M712T |
probably damaging |
Het |
| Apcdd1 |
T |
C |
18: 63,070,105 (GRCm39) |
I124T |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,347 (GRCm39) |
K256R |
probably damaging |
Het |
| Cass4 |
G |
T |
2: 172,268,688 (GRCm39) |
V259L |
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,888,241 (GRCm39) |
V508A |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 58,024,450 (GRCm39) |
S226P |
possibly damaging |
Het |
| Cep72 |
T |
C |
13: 74,210,335 (GRCm39) |
E9G |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,621,227 (GRCm39) |
Y616N |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,054,939 (GRCm39) |
S117P |
possibly damaging |
Het |
| Col11a2 |
C |
T |
17: 34,269,998 (GRCm39) |
A429V |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,465,238 (GRCm39) |
E979G |
unknown |
Het |
| Coq10b |
T |
C |
1: 55,103,359 (GRCm39) |
Y46H |
possibly damaging |
Het |
| Cplane1 |
C |
A |
15: 8,258,319 (GRCm39) |
F2188L |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,943,596 (GRCm39) |
T3169A |
possibly damaging |
Het |
| Dock6 |
G |
A |
9: 21,714,372 (GRCm39) |
R1824* |
probably null |
Het |
| Dsp |
A |
C |
13: 38,379,818 (GRCm39) |
I1589L |
probably benign |
Het |
| Edil3 |
A |
G |
13: 89,347,593 (GRCm39) |
T383A |
probably benign |
Het |
| Efemp1 |
T |
C |
11: 28,817,758 (GRCm39) |
V79A |
probably damaging |
Het |
| Esyt1 |
C |
T |
10: 128,355,329 (GRCm39) |
V471I |
probably benign |
Het |
| Fbxo30 |
T |
C |
10: 11,165,409 (GRCm39) |
S44P |
possibly damaging |
Het |
| Fdx2 |
G |
T |
9: 20,984,562 (GRCm39) |
D57E |
probably benign |
Het |
| Gbp11 |
A |
T |
5: 105,478,904 (GRCm39) |
V178D |
probably damaging |
Het |
| Gna11 |
A |
T |
10: 81,366,967 (GRCm39) |
I283N |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 63,480,345 (GRCm39) |
Q53L |
probably benign |
Het |
| Jmjd6 |
A |
G |
11: 116,731,252 (GRCm39) |
S266P |
probably damaging |
Het |
| Kirrel1 |
G |
A |
3: 86,997,825 (GRCm39) |
R233C |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,735,238 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,686,267 (GRCm39) |
T1171S |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,210,191 (GRCm39) |
S650R |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
| Mgat1 |
T |
C |
11: 49,151,976 (GRCm39) |
V153A |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,110,452 (GRCm39) |
D416V |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,987,870 (GRCm39) |
R1448W |
probably damaging |
Het |
| Nedd1 |
A |
T |
10: 92,530,894 (GRCm39) |
F398L |
probably benign |
Het |
| Or2a14 |
A |
G |
6: 43,130,567 (GRCm39) |
I109M |
probably benign |
Het |
| Or4k45 |
T |
C |
2: 111,395,349 (GRCm39) |
T147A |
probably benign |
Het |
| Or5ac17 |
T |
C |
16: 59,036,403 (GRCm39) |
D191G |
probably benign |
Het |
| Or5g9 |
T |
C |
2: 85,552,331 (GRCm39) |
I194T |
probably benign |
Het |
| Otud3 |
A |
G |
4: 138,624,894 (GRCm39) |
L269P |
probably damaging |
Het |
| Otx1 |
A |
G |
11: 21,946,296 (GRCm39) |
|
probably benign |
Het |
| Pcdhga7 |
A |
C |
18: 37,849,331 (GRCm39) |
D446A |
probably damaging |
Het |
| Pcnx2 |
T |
G |
8: 126,564,754 (GRCm39) |
K1046N |
possibly damaging |
Het |
| Pfkp |
C |
A |
13: 6,698,619 (GRCm39) |
G33W |
probably damaging |
Het |
| Poglut2 |
C |
T |
1: 44,151,837 (GRCm39) |
V351M |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,188,043 (GRCm39) |
I585T |
probably damaging |
Het |
| Pole4 |
A |
G |
6: 82,629,115 (GRCm39) |
Y84H |
possibly damaging |
Het |
| Pramel26 |
G |
T |
4: 143,539,169 (GRCm39) |
S108* |
probably null |
Het |
| Ptpn23 |
A |
G |
9: 110,221,809 (GRCm39) |
S126P |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rin3 |
T |
C |
12: 102,353,891 (GRCm39) |
L766P |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rras2 |
G |
A |
7: 113,649,650 (GRCm39) |
T138I |
possibly damaging |
Het |
| Scrn2 |
A |
G |
11: 96,921,751 (GRCm39) |
I74V |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,501,735 (GRCm39) |
I526T |
possibly damaging |
Het |
| Shd |
G |
T |
17: 56,278,577 (GRCm39) |
E47* |
probably null |
Het |
| Slc22a27 |
T |
C |
19: 7,903,996 (GRCm39) |
H47R |
probably damaging |
Het |
| Slc36a3 |
C |
G |
11: 55,033,595 (GRCm39) |
W141S |
possibly damaging |
Het |
| Smg8 |
A |
T |
11: 86,976,296 (GRCm39) |
D428E |
probably benign |
Het |
| Snrpe |
A |
T |
1: 133,534,211 (GRCm39) |
F84Y |
probably benign |
Het |
| Tbc1d2b |
C |
T |
9: 90,109,559 (GRCm39) |
D306N |
possibly damaging |
Het |
| Trav9n-4 |
A |
G |
14: 53,532,356 (GRCm39) |
Y70C |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,936,367 (GRCm39) |
F843L |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,870,847 (GRCm39) |
I330T |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,488,349 (GRCm39) |
L12P |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,436,713 (GRCm39) |
S2047P |
unknown |
Het |
| Zfp763 |
A |
C |
17: 33,240,768 (GRCm39) |
S20R |
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 |
|
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 |
|
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'- AGTGAGTCACCATACCACTTC -3'
(R):5'- CTGCCAGCTTAGACATCTTACC -3'
Sequencing Primer
(F):5'- GAGTCACCATACCACTTCTTTCATG -3'
(R):5'- GACATCTTACCTGTCTTCAGAATG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation