Incidental Mutation 'R4433:Slc9c1'
ID |
328719 |
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 |
041147-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.398)
|
Stock # |
R4433 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45419829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1000
(I1000F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
AlphaFold |
Q6UJY2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159945
AA Change: I1000F
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124969 Gene: ENSMUSG00000033210 AA Change: I1000F
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
98% (59/60) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
Acsm2 |
A |
G |
7: 119,153,732 (GRCm39) |
H14R |
unknown |
Het |
Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
Ak5 |
A |
G |
3: 152,361,517 (GRCm39) |
I135T |
probably damaging |
Het |
Alk |
G |
T |
17: 72,206,236 (GRCm39) |
S1038* |
probably null |
Het |
Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
Ap2m1 |
A |
T |
16: 20,362,134 (GRCm39) |
H414L |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,100,842 (GRCm39) |
M649K |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Calhm6 |
T |
A |
10: 34,003,827 (GRCm39) |
T27S |
probably damaging |
Het |
Cdc25b |
A |
G |
2: 131,033,618 (GRCm39) |
S186G |
probably benign |
Het |
Ceacam16 |
A |
G |
7: 19,587,514 (GRCm39) |
V418A |
possibly damaging |
Het |
Cntnap3 |
A |
C |
13: 64,926,667 (GRCm39) |
S568A |
possibly damaging |
Het |
Col24a1 |
G |
T |
3: 145,020,144 (GRCm39) |
V172F |
possibly damaging |
Het |
Dynlt4 |
C |
T |
4: 116,985,320 (GRCm39) |
R48C |
probably damaging |
Het |
Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Esp36 |
T |
A |
17: 38,729,847 (GRCm39) |
T15S |
unknown |
Het |
Fat2 |
A |
T |
11: 55,200,466 (GRCm39) |
H869Q |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,942,448 (GRCm39) |
V1308A |
probably damaging |
Het |
Gimap3 |
T |
C |
6: 48,742,880 (GRCm39) |
T17A |
possibly damaging |
Het |
Hnrnpr |
A |
G |
4: 136,044,459 (GRCm39) |
K13R |
probably benign |
Het |
Hycc1 |
A |
C |
5: 24,184,579 (GRCm39) |
C218G |
possibly damaging |
Het |
Kdr |
A |
G |
5: 76,104,585 (GRCm39) |
M1133T |
possibly damaging |
Het |
Mgarp |
A |
G |
3: 51,303,681 (GRCm39) |
|
probably benign |
Het |
Neto2 |
G |
A |
8: 86,367,712 (GRCm39) |
T337I |
probably damaging |
Het |
Nfib |
C |
T |
4: 82,416,672 (GRCm39) |
R137Q |
probably damaging |
Het |
Nherf4 |
T |
C |
9: 44,159,285 (GRCm39) |
*499W |
probably null |
Het |
Nr3c2 |
A |
G |
8: 77,944,096 (GRCm39) |
E890G |
probably damaging |
Het |
Nsun4 |
A |
G |
4: 115,897,327 (GRCm39) |
V228A |
possibly damaging |
Het |
Nt5c1a |
T |
A |
4: 123,109,689 (GRCm39) |
S263T |
probably benign |
Het |
Ntm |
A |
T |
9: 28,923,516 (GRCm39) |
Y45* |
probably null |
Het |
Nts |
A |
G |
10: 102,320,888 (GRCm39) |
V67A |
probably benign |
Het |
Or1e19 |
A |
T |
11: 73,316,537 (GRCm39) |
S91T |
possibly damaging |
Het |
Or1e25 |
A |
G |
11: 73,493,712 (GRCm39) |
Y102C |
probably damaging |
Het |
Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
Or51ag1 |
T |
A |
7: 103,155,346 (GRCm39) |
K269M |
probably benign |
Het |
Ostm1 |
C |
A |
10: 42,555,119 (GRCm39) |
A47E |
probably benign |
Het |
Otol1 |
G |
A |
3: 69,925,881 (GRCm39) |
V19M |
probably benign |
Het |
Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
Pcdhgb1 |
T |
C |
18: 37,814,304 (GRCm39) |
I265T |
probably damaging |
Het |
Pex14 |
T |
C |
4: 149,045,967 (GRCm39) |
E321G |
possibly damaging |
Het |
Phactr3 |
C |
A |
2: 177,924,925 (GRCm39) |
R251S |
probably damaging |
Het |
Pkdcc |
C |
T |
17: 83,528,570 (GRCm39) |
T313M |
probably benign |
Het |
Plce1 |
A |
T |
19: 38,755,745 (GRCm39) |
E1911V |
probably damaging |
Het |
Ptprv |
G |
T |
1: 135,042,308 (GRCm39) |
|
noncoding transcript |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rhob |
A |
G |
12: 8,549,533 (GRCm39) |
Y34H |
possibly damaging |
Het |
Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
Tcf7 |
G |
T |
11: 52,152,442 (GRCm39) |
P36T |
probably benign |
Het |
Tcf7l1 |
C |
G |
6: 72,765,752 (GRCm39) |
E62Q |
probably damaging |
Het |
Tll2 |
A |
G |
19: 41,109,787 (GRCm39) |
S326P |
probably benign |
Het |
Tubgcp4 |
A |
G |
2: 121,014,954 (GRCm39) |
N288S |
probably benign |
Het |
Zfhx3 |
G |
A |
8: 109,682,269 (GRCm39) |
R3236H |
unknown |
Het |
Zfp764l1 |
T |
G |
7: 126,992,174 (GRCm39) |
Q87P |
possibly damaging |
Het |
Zgrf1 |
A |
G |
3: 127,355,727 (GRCm39) |
T318A |
probably benign |
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 |
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'- TCTGTTCAAGATTGCAAGCCTG -3'
(R):5'- CACAGGCTCATGACACTAGC -3'
Sequencing Primer
(F):5'- GCCTGAGCTAATAAATGCATTTTATG -3'
(R):5'- GGCTCATGACACTAGCTTACAGTC -3'
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Posted On |
2015-07-21 |