Incidental Mutation 'R9686:Slc9c1'
| ID |
728874 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R9686 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45355672-45427364 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45400577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 729
(V729A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159945
AA Change: V729A
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: V729A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,247,867 (GRCm39) |
F1209L |
probably benign |
Het |
| Adamts19 |
A |
G |
18: 58,971,093 (GRCm39) |
T226A |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,236,084 (GRCm39) |
T220A |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,740,550 (GRCm39) |
E1778V |
unknown |
Het |
| Aspn |
T |
C |
13: 49,710,829 (GRCm39) |
I158T |
probably damaging |
Het |
| Btbd1 |
A |
G |
7: 81,455,598 (GRCm39) |
C258R |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,070,872 (GRCm39) |
N278S |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,678,926 (GRCm39) |
E12G |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,919 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ceacam3 |
C |
T |
7: 16,892,123 (GRCm39) |
L289F |
|
Het |
| Cenpj |
G |
A |
14: 56,790,048 (GRCm39) |
A667V |
probably benign |
Het |
| Clu |
G |
T |
14: 66,212,454 (GRCm39) |
G136C |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,474,962 (GRCm39) |
F626I |
unknown |
Het |
| Csf2ra |
A |
G |
19: 61,213,629 (GRCm39) |
F360S |
probably damaging |
Het |
| Cyp27b1 |
T |
A |
10: 126,886,185 (GRCm39) |
S289T |
probably benign |
Het |
| Dnah17 |
G |
T |
11: 117,979,048 (GRCm39) |
H1781Q |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fap |
T |
C |
2: 62,403,857 (GRCm39) |
K6R |
possibly damaging |
Het |
| Fcer1a |
A |
G |
1: 173,052,980 (GRCm39) |
V72A |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,456,434 (GRCm39) |
S2211P |
possibly damaging |
Het |
| Gm20939 |
A |
T |
17: 95,184,888 (GRCm39) |
H512L |
probably damaging |
Het |
| Gng12 |
T |
C |
6: 66,994,529 (GRCm39) |
S59P |
probably damaging |
Het |
| Grin1 |
A |
C |
2: 25,203,522 (GRCm39) |
I163S |
probably benign |
Het |
| Haus5 |
A |
G |
7: 30,361,398 (GRCm39) |
I74T |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,613,356 (GRCm39) |
P1357L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,500 (GRCm39) |
I461T |
probably benign |
Het |
| Kmo |
A |
G |
1: 175,459,786 (GRCm39) |
M1V |
probably null |
Het |
| Krt80 |
G |
A |
15: 101,262,281 (GRCm39) |
R107C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,377,491 (GRCm39) |
V1481A |
possibly damaging |
Het |
| Masp1 |
A |
G |
16: 23,314,887 (GRCm39) |
S125P |
probably damaging |
Het |
| Mroh2b |
C |
T |
15: 4,974,605 (GRCm39) |
P1195L |
probably benign |
Het |
| Neurl3 |
A |
T |
1: 36,305,539 (GRCm39) |
W223R |
probably benign |
Het |
| Or10h28 |
A |
G |
17: 33,487,853 (GRCm39) |
T52A |
probably benign |
Het |
| Or5g27 |
T |
A |
2: 85,410,340 (GRCm39) |
Y252* |
probably null |
Het |
| Or5k1b |
T |
C |
16: 58,581,126 (GRCm39) |
K138E |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,335 (GRCm39) |
I170F |
probably benign |
Het |
| Pcdhb4 |
A |
C |
18: 37,442,943 (GRCm39) |
Y751S |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,592,766 (GRCm39) |
A733S |
probably benign |
Het |
| Pde4a |
A |
G |
9: 21,117,562 (GRCm39) |
E608G |
probably benign |
Het |
| Pfdn2 |
G |
A |
1: 171,185,377 (GRCm39) |
E98K |
unknown |
Het |
| Pikfyve |
T |
A |
1: 65,291,615 (GRCm39) |
V1278D |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,204,694 (GRCm39) |
T1843S |
probably damaging |
Het |
| Rab12 |
G |
T |
17: 66,826,513 (GRCm39) |
A66E |
probably benign |
Het |
| Ralyl |
T |
C |
3: 13,841,887 (GRCm39) |
|
probably benign |
Het |
| Rbm47 |
A |
T |
5: 66,179,969 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,743,384 (GRCm39) |
D3038E |
possibly damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,005 (GRCm39) |
F407L |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,049,271 (GRCm39) |
D332E |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,848,001 (GRCm39) |
E295D |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,316,775 (GRCm39) |
S518G |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,381,954 (GRCm39) |
D29G |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,989,108 (GRCm39) |
E925K |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,199,946 (GRCm39) |
S2894P |
probably benign |
Het |
| Taar7a |
G |
A |
10: 23,869,309 (GRCm39) |
T24I |
probably benign |
Het |
| Taf4b |
C |
A |
18: 14,932,215 (GRCm39) |
T189N |
possibly damaging |
Het |
| Tle7 |
T |
A |
8: 110,836,563 (GRCm39) |
W180R |
probably damaging |
Het |
| Ube2o |
A |
T |
11: 116,434,779 (GRCm39) |
C561S |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,424,351 (GRCm39) |
I3213N |
|
Het |
| Vmn1r103 |
A |
G |
7: 20,244,353 (GRCm39) |
V36A |
possibly damaging |
Het |
| Vmn2r65 |
G |
A |
7: 84,590,084 (GRCm39) |
L611F |
probably benign |
Het |
| Zfp51 |
C |
T |
17: 21,683,871 (GRCm39) |
S162F |
probably damaging |
Het |
| Zfp518b |
G |
A |
5: 38,831,457 (GRCm39) |
H183Y |
probably damaging |
Het |
| Zfp622 |
A |
G |
15: 25,985,141 (GRCm39) |
E169G |
probably benign |
Het |
| Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
probably damaging |
Het |
| Zfp839 |
A |
T |
12: 110,821,932 (GRCm39) |
I249F |
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 |
|
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 |
|
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'- AACTGGTAATGTTTGCATTCCC -3'
(R):5'- TGAAGGTAGCTGAATGGCTTAAAC -3'
Sequencing Primer
(F):5'- GCCACTGAGAGTTTGAGTACACTTAG -3'
(R):5'- GCTGAATGGCTTAAACATCAGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation