Incidental Mutation 'R1754:Slc9c1'
ID |
193885 |
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 |
039786-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.398)
|
Stock # |
R1754 (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 45409872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 864
(M864K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
AlphaFold |
Q6UJY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159945
AA Change: M864K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000124969 Gene: ENSMUSG00000033210 AA Change: M864K
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: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.3%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
A |
2: 25,324,345 (GRCm39) |
L234M |
probably benign |
Het |
Abca3 |
G |
A |
17: 24,596,753 (GRCm39) |
S402N |
probably benign |
Het |
Acad12 |
A |
T |
5: 121,745,544 (GRCm39) |
V249D |
probably benign |
Het |
Acp4 |
T |
C |
7: 43,904,428 (GRCm39) |
I212V |
probably benign |
Het |
Actl6a |
T |
A |
3: 32,772,723 (GRCm39) |
V233D |
probably damaging |
Het |
Aire |
T |
A |
10: 77,866,124 (GRCm39) |
Q533L |
probably damaging |
Het |
Aldh3b3 |
T |
C |
19: 4,018,517 (GRCm39) |
S411P |
probably benign |
Het |
Amer2 |
A |
G |
14: 60,617,206 (GRCm39) |
K467R |
probably damaging |
Het |
Apol9b |
A |
T |
15: 77,619,962 (GRCm39) |
I253F |
probably benign |
Het |
Arid1b |
A |
G |
17: 5,329,476 (GRCm39) |
|
probably null |
Het |
Atp6v0a4 |
T |
C |
6: 38,044,764 (GRCm39) |
T494A |
probably benign |
Het |
Atp6v1b2 |
A |
G |
8: 69,554,613 (GRCm39) |
D106G |
probably benign |
Het |
Avpr1b |
T |
C |
1: 131,527,839 (GRCm39) |
S121P |
probably damaging |
Het |
Bcl11a |
A |
C |
11: 24,114,724 (GRCm39) |
E689A |
probably damaging |
Het |
Brpf3 |
T |
G |
17: 29,040,297 (GRCm39) |
L906R |
probably benign |
Het |
Btn1a1 |
T |
C |
13: 23,644,638 (GRCm39) |
K287E |
probably benign |
Het |
Cacna1i |
A |
G |
15: 80,255,730 (GRCm39) |
H871R |
probably damaging |
Het |
Cd14 |
A |
T |
18: 36,858,567 (GRCm39) |
L296Q |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Colgalt1 |
G |
T |
8: 72,075,823 (GRCm39) |
W490L |
probably damaging |
Het |
Ctnna2 |
A |
G |
6: 77,613,732 (GRCm39) |
I273T |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,543,344 (GRCm39) |
D2275E |
probably benign |
Het |
Dnah7a |
A |
C |
1: 53,601,059 (GRCm39) |
|
probably null |
Het |
Egfem1 |
T |
C |
3: 29,722,482 (GRCm39) |
Y404H |
possibly damaging |
Het |
Esm1 |
A |
T |
13: 113,353,230 (GRCm39) |
N171Y |
probably damaging |
Het |
Exoc1 |
T |
G |
5: 76,708,169 (GRCm39) |
|
probably null |
Het |
Fam243 |
A |
G |
16: 92,117,919 (GRCm39) |
V123A |
probably damaging |
Het |
Fcho1 |
A |
G |
8: 72,163,890 (GRCm39) |
I580T |
probably benign |
Het |
Fgfr1 |
A |
G |
8: 26,060,226 (GRCm39) |
H552R |
probably damaging |
Het |
Fsbp |
A |
G |
4: 11,583,906 (GRCm39) |
R202G |
probably damaging |
Het |
Gabra6 |
A |
G |
11: 42,207,388 (GRCm39) |
V231A |
probably damaging |
Het |
Gmeb1 |
A |
G |
4: 131,959,338 (GRCm39) |
S239P |
probably benign |
Het |
Gnpat |
T |
A |
8: 125,603,745 (GRCm39) |
Y208N |
probably damaging |
Het |
Il21 |
T |
C |
3: 37,279,674 (GRCm39) |
K114R |
possibly damaging |
Het |
Inhbc |
T |
C |
10: 127,206,162 (GRCm39) |
D35G |
possibly damaging |
Het |
Inpp4b |
A |
T |
8: 82,497,440 (GRCm39) |
T87S |
probably damaging |
Het |
Kcns2 |
T |
C |
15: 34,839,663 (GRCm39) |
I342T |
possibly damaging |
Het |
Ky |
A |
T |
9: 102,419,126 (GRCm39) |
T378S |
possibly damaging |
Het |
Lcat |
CAT |
C |
8: 106,668,446 (GRCm39) |
|
probably null |
Het |
Lrrc8d |
T |
C |
5: 105,960,523 (GRCm39) |
V311A |
probably benign |
Het |
Mief1 |
A |
G |
15: 80,133,803 (GRCm39) |
I287V |
probably damaging |
Het |
Mrpl47 |
A |
G |
3: 32,784,233 (GRCm39) |
V179A |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,687,178 (GRCm39) |
K576R |
probably damaging |
Het |
Myh10 |
C |
A |
11: 68,703,884 (GRCm39) |
A1902E |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,449,228 (GRCm39) |
T837A |
possibly damaging |
Het |
Nr1i3 |
T |
C |
1: 171,044,963 (GRCm39) |
Y132H |
probably damaging |
Het |
Oit3 |
T |
C |
10: 59,263,762 (GRCm39) |
|
probably null |
Het |
Or12j4 |
A |
T |
7: 140,046,773 (GRCm39) |
I220F |
probably damaging |
Het |
Or2z2 |
A |
T |
11: 58,346,088 (GRCm39) |
M229K |
probably damaging |
Het |
Or4c100 |
A |
T |
2: 88,356,159 (GRCm39) |
R77S |
probably damaging |
Het |
Or5b113 |
T |
C |
19: 13,342,717 (GRCm39) |
S242P |
probably damaging |
Het |
Or5h25 |
T |
A |
16: 58,930,944 (GRCm39) |
I10F |
probably benign |
Het |
Or6k14 |
A |
G |
1: 173,927,599 (GRCm39) |
T192A |
probably benign |
Het |
Or7a42 |
T |
A |
10: 78,791,531 (GRCm39) |
V164E |
probably damaging |
Het |
Or9k2 |
G |
A |
10: 129,999,033 (GRCm39) |
T54I |
probably benign |
Het |
Pdlim4 |
T |
C |
11: 53,946,699 (GRCm39) |
E196G |
possibly damaging |
Het |
Pigs |
A |
G |
11: 78,228,673 (GRCm39) |
Y293C |
probably damaging |
Het |
Pkd1l2 |
A |
T |
8: 117,757,458 (GRCm39) |
S1527T |
possibly damaging |
Het |
Pkd2l1 |
A |
T |
19: 44,144,040 (GRCm39) |
Y344* |
probably null |
Het |
Pmp2 |
T |
C |
3: 10,247,284 (GRCm39) |
|
probably null |
Het |
Polr3e |
T |
C |
7: 120,538,521 (GRCm39) |
|
probably null |
Het |
Ppp3ca |
C |
G |
3: 136,587,209 (GRCm39) |
I230M |
probably benign |
Het |
Ppp5c |
T |
C |
7: 16,739,235 (GRCm39) |
H463R |
probably benign |
Het |
Ptger1 |
A |
G |
8: 84,395,926 (GRCm39) |
N328D |
probably benign |
Het |
Rhno1 |
A |
T |
6: 128,334,822 (GRCm39) |
I167N |
probably benign |
Het |
Rictor |
C |
A |
15: 6,764,849 (GRCm39) |
P34H |
probably damaging |
Het |
Rnf10 |
A |
C |
5: 115,383,924 (GRCm39) |
S630R |
probably damaging |
Het |
Rnf168 |
A |
G |
16: 32,117,942 (GRCm39) |
Q501R |
probably benign |
Het |
Rngtt |
T |
G |
4: 33,329,634 (GRCm39) |
|
probably null |
Het |
Samd9l |
G |
T |
6: 3,373,126 (GRCm39) |
F1378L |
probably damaging |
Het |
Slitrk5 |
T |
C |
14: 111,917,951 (GRCm39) |
F525S |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,076,290 (GRCm39) |
M784V |
probably benign |
Het |
Spata31e4 |
A |
T |
13: 50,855,123 (GRCm39) |
T254S |
probably damaging |
Het |
Spint2 |
C |
T |
7: 28,959,791 (GRCm39) |
|
probably null |
Het |
Ssh1 |
A |
T |
5: 114,093,906 (GRCm39) |
I276N |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,221,939 (GRCm39) |
V2892D |
probably benign |
Het |
Ttn |
C |
A |
2: 76,581,384 (GRCm39) |
E21424* |
probably null |
Het |
Usp17lc |
T |
C |
7: 103,068,055 (GRCm39) |
I450T |
probably benign |
Het |
Vcan |
A |
G |
13: 89,852,854 (GRCm39) |
V702A |
probably benign |
Het |
Vmn1r36 |
TA |
TAA |
6: 66,693,517 (GRCm39) |
|
probably null |
Het |
Vmn2r51 |
G |
T |
7: 9,833,873 (GRCm39) |
D388E |
probably benign |
Het |
Zfp106 |
A |
C |
2: 120,364,245 (GRCm39) |
S721A |
probably damaging |
Het |
Zfp106 |
G |
A |
2: 120,364,244 (GRCm39) |
S721L |
probably damaging |
Het |
Zfp189 |
T |
A |
4: 49,529,342 (GRCm39) |
H148Q |
possibly damaging |
Het |
Zfp352 |
A |
T |
4: 90,112,046 (GRCm39) |
Y62F |
probably benign |
Het |
Zfp839 |
T |
C |
12: 110,821,891 (GRCm39) |
V235A |
probably damaging |
Het |
Zfp871 |
T |
C |
17: 32,994,308 (GRCm39) |
Y289C |
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 |
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'- GCTTGGGTCTGCAATGCCCTTC -3'
(R):5'- CAGGGCTGTGGGTTGTACTCAAAG -3'
Sequencing Primer
(F):5'- cctcttcctcttcctccttctc -3'
(R):5'- GGGACAACTACAGAGTTTTAACTAGC -3'
|
Posted On |
2014-05-23 |