Incidental Mutation 'R8289:Slc9c1'
| ID |
638602 |
| 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, Slc9a10, spermNHE |
| MMRRC Submission |
067711-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R8289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45535309-45607001 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45582981 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 804
(M804V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159945
AA Change: M804V
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: M804V
| 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 |
100% (62/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
C |
11: 110,036,689 (GRCm38) |
|
probably benign |
Het |
| Adamts3 |
C |
A |
5: 89,775,423 (GRCm38) |
D175Y |
possibly damaging |
Het |
| Adra1b |
G |
A |
11: 43,835,488 (GRCm38) |
P201S |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,775,808 (GRCm38) |
V610A |
possibly damaging |
Het |
| Ap5s1 |
A |
C |
2: 131,212,459 (GRCm38) |
H62P |
probably benign |
Het |
| Apeh |
A |
G |
9: 108,086,245 (GRCm38) |
S593P |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 102,880,826 (GRCm38) |
V289A |
possibly damaging |
Het |
| Atoh1 |
A |
G |
6: 64,729,909 (GRCm38) |
E196G |
probably damaging |
Het |
| Atp1b3 |
G |
A |
9: 96,333,549 (GRCm38) |
S271L |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 101,034,105 (GRCm38) |
R339G |
probably damaging |
Het |
| Calb2 |
T |
C |
8: 110,168,058 (GRCm38) |
H27R |
possibly damaging |
Het |
| Camkk2 |
A |
C |
5: 122,756,626 (GRCm38) |
L201R |
probably damaging |
Het |
| Car15 |
A |
G |
16: 17,836,716 (GRCm38) |
|
probably null |
Het |
| Cecr2 |
A |
G |
6: 120,758,116 (GRCm38) |
N771S |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 86,033,085 (GRCm38) |
S229* |
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,058,702 (GRCm38) |
I1896F |
probably damaging |
Het |
| Cubn |
C |
T |
2: 13,486,802 (GRCm38) |
V145I |
probably benign |
Het |
| Cuedc1 |
G |
A |
11: 88,182,555 (GRCm38) |
S182N |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,308,504 (GRCm38) |
E718V |
probably damaging |
Het |
| Cyp7a1 |
G |
A |
4: 6,268,295 (GRCm38) |
P477S |
probably damaging |
Het |
| Dcaf17 |
T |
A |
2: 71,055,374 (GRCm38) |
W16R |
|
Het |
| Dhx8 |
T |
A |
11: 101,740,745 (GRCm38) |
M388K |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,716,215 (GRCm38) |
Y2453* |
probably null |
Het |
| Epha8 |
G |
T |
4: 136,938,586 (GRCm38) |
L420M |
probably damaging |
Het |
| F830016B08Rik |
G |
A |
18: 60,300,288 (GRCm38) |
E148K |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,266,361 (GRCm38) |
T434A |
possibly damaging |
Het |
| Ide |
G |
C |
19: 37,313,554 (GRCm38) |
L368V |
probably null |
Het |
| Ide |
A |
G |
19: 37,313,553 (GRCm38) |
L368P |
|
Het |
| Ifi206 |
T |
C |
1: 173,480,466 (GRCm38) |
I655V |
|
Het |
| Insrr |
A |
G |
3: 87,814,194 (GRCm38) |
M1136V |
probably damaging |
Het |
| Kcne2 |
A |
G |
16: 92,296,819 (GRCm38) |
E78G |
probably damaging |
Het |
| Lrrc23 |
A |
T |
6: 124,778,304 (GRCm38) |
L90H |
probably damaging |
Het |
| Magel2 |
A |
C |
7: 62,379,127 (GRCm38) |
Q593P |
unknown |
Het |
| Mrgpra3 |
G |
A |
7: 47,589,720 (GRCm38) |
H153Y |
possibly damaging |
Het |
| Msln |
A |
G |
17: 25,748,906 (GRCm38) |
V595A |
possibly damaging |
Het |
| Mvb12a |
T |
C |
8: 71,543,059 (GRCm38) |
|
probably null |
Het |
| Myo7a |
T |
G |
7: 98,077,169 (GRCm38) |
M966L |
probably benign |
Het |
| Ncoa5 |
C |
T |
2: 165,013,062 (GRCm38) |
D47N |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,909,380 (GRCm38) |
|
probably null |
Het |
| Olfr389 |
T |
A |
11: 73,777,013 (GRCm38) |
M105L |
probably benign |
Het |
| Olfr464 |
T |
C |
11: 87,914,763 (GRCm38) |
T48A |
probably benign |
Het |
| Olfr501-ps1 |
T |
A |
7: 108,508,918 (GRCm38) |
H287Q |
unknown |
Het |
| Olfr884 |
T |
A |
9: 38,047,704 (GRCm38) |
C161S |
probably benign |
Het |
| Osbpl7 |
T |
A |
11: 97,056,579 (GRCm38) |
S480T |
probably benign |
Het |
| Podnl1 |
T |
C |
8: 84,131,923 (GRCm38) |
L484P |
|
Het |
| Polr3gl |
G |
T |
3: 96,581,912 (GRCm38) |
|
probably benign |
Het |
| Prkaa1 |
G |
T |
15: 5,177,082 (GRCm38) |
V438L |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,123,009 (GRCm38) |
H1959L |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,698,858 (GRCm38) |
L172* |
probably null |
Het |
| Samsn1 |
C |
A |
16: 75,888,796 (GRCm38) |
G25W |
probably damaging |
Het |
| Sbno1 |
T |
G |
5: 124,404,005 (GRCm38) |
L362F |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,856,031 (GRCm38) |
R43H |
probably benign |
Het |
| Slc35f5 |
T |
G |
1: 125,562,515 (GRCm38) |
Y49* |
probably null |
Het |
| Slc41a2 |
T |
C |
10: 83,301,180 (GRCm38) |
I288V |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,274,051 (GRCm38) |
S66T |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 113,942,384 (GRCm38) |
D995G |
probably benign |
Het |
| Stk11 |
G |
T |
10: 80,125,906 (GRCm38) |
|
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,841,037 (GRCm38) |
I813T |
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,492,761 (GRCm38) |
S332T |
possibly damaging |
Het |
| Treml4 |
A |
C |
17: 48,274,428 (GRCm38) |
I244L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,172,524 (GRCm38) |
C1117* |
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,008,020 (GRCm38) |
I526V |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,781,137 (GRCm38) |
W500R |
probably damaging |
Het |
| Zfr |
G |
T |
15: 12,135,271 (GRCm38) |
V49F |
noncoding transcript |
Het |
|
| Other mutations in Slc9c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Slc9c1
|
APN |
16 |
45,573,389 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL00510:Slc9c1
|
APN |
16 |
45,539,639 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00949:Slc9c1
|
APN |
16 |
45,593,358 (GRCm38) |
missense |
probably benign |
|
|
IGL01287:Slc9c1
|
APN |
16 |
45,584,448 (GRCm38) |
nonsense |
probably null |
|
|
IGL01536:Slc9c1
|
APN |
16 |
45,589,629 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01655:Slc9c1
|
APN |
16 |
45,582,972 (GRCm38) |
missense |
probably benign |
|
|
IGL01671:Slc9c1
|
APN |
16 |
45,560,315 (GRCm38) |
missense |
probably benign |
|
|
IGL01720:Slc9c1
|
APN |
16 |
45,555,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01758:Slc9c1
|
APN |
16 |
45,541,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02031:Slc9c1
|
APN |
16 |
45,599,470 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02321:Slc9c1
|
APN |
16 |
45,556,614 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02472:Slc9c1
|
APN |
16 |
45,580,142 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02516:Slc9c1
|
APN |
16 |
45,577,875 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02732:Slc9c1
|
APN |
16 |
45,550,185 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL02741:Slc9c1
|
APN |
16 |
45,581,598 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02795:Slc9c1
|
APN |
16 |
45,575,419 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03032:Slc9c1
|
APN |
16 |
45,543,261 (GRCm38) |
splice site |
probably benign |
|
|
IGL03062:Slc9c1
|
APN |
16 |
45,599,758 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL03184:Slc9c1
|
APN |
16 |
45,547,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03351:Slc9c1
|
APN |
16 |
45,543,168 (GRCm38) |
missense |
probably benign |
0.01 |
|
P0041:Slc9c1
|
UTSW |
16 |
45,550,161 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0052:Slc9c1
|
UTSW |
16 |
45,606,856 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0107:Slc9c1
|
UTSW |
16 |
45,575,420 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0255:Slc9c1
|
UTSW |
16 |
45,554,300 (GRCm38) |
missense |
probably benign |
0.25 |
|
R0316:Slc9c1
|
UTSW |
16 |
45,580,232 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R0437:Slc9c1
|
UTSW |
16 |
45,599,887 (GRCm38) |
splice site |
probably benign |
|
|
R0611:Slc9c1
|
UTSW |
16 |
45,581,602 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0624:Slc9c1
|
UTSW |
16 |
45,573,356 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0630:Slc9c1
|
UTSW |
16 |
45,543,120 (GRCm38) |
splice site |
probably benign |
|
|
R1106:Slc9c1
|
UTSW |
16 |
45,555,807 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1396:Slc9c1
|
UTSW |
16 |
45,573,347 (GRCm38) |
missense |
probably benign |
0.43 |
|
R1727:Slc9c1
|
UTSW |
16 |
45,601,961 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1732:Slc9c1
|
UTSW |
16 |
45,552,928 (GRCm38) |
missense |
probably benign |
0.21 |
|
R1754:Slc9c1
|
UTSW |
16 |
45,589,509 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1799:Slc9c1
|
UTSW |
16 |
45,554,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1802:Slc9c1
|
UTSW |
16 |
45,558,281 (GRCm38) |
missense |
probably benign |
|
|
R1813:Slc9c1
|
UTSW |
16 |
45,573,347 (GRCm38) |
missense |
probably benign |
0.43 |
|
R1972:Slc9c1
|
UTSW |
16 |
45,593,472 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1985:Slc9c1
|
UTSW |
16 |
45,550,106 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1995:Slc9c1
|
UTSW |
16 |
45,554,255 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2045:Slc9c1
|
UTSW |
16 |
45,580,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Slc9c1
|
UTSW |
16 |
45,593,464 (GRCm38) |
missense |
probably benign |
0.19 |
|
R2511:Slc9c1
|
UTSW |
16 |
45,544,736 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R3716:Slc9c1
|
UTSW |
16 |
45,580,219 (GRCm38) |
missense |
probably benign |
|
|
R3765:Slc9c1
|
UTSW |
16 |
45,590,881 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R3936:Slc9c1
|
UTSW |
16 |
45,606,830 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4051:Slc9c1
|
UTSW |
16 |
45,543,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4302:Slc9c1
|
UTSW |
16 |
45,544,791 (GRCm38) |
missense |
probably benign |
0.35 |
|
R4433:Slc9c1
|
UTSW |
16 |
45,599,466 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4651:Slc9c1
|
UTSW |
16 |
45,547,393 (GRCm38) |
makesense |
probably null |
|
|
R4928:Slc9c1
|
UTSW |
16 |
45,575,409 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4957:Slc9c1
|
UTSW |
16 |
45,544,831 (GRCm38) |
missense |
probably benign |
0.45 |
|
R4989:Slc9c1
|
UTSW |
16 |
45,593,437 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5478:Slc9c1
|
UTSW |
16 |
45,554,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5534:Slc9c1
|
UTSW |
16 |
45,556,614 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5898:Slc9c1
|
UTSW |
16 |
45,544,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5939:Slc9c1
|
UTSW |
16 |
45,547,668 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6110:Slc9c1
|
UTSW |
16 |
45,575,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6115:Slc9c1
|
UTSW |
16 |
45,555,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6277:Slc9c1
|
UTSW |
16 |
45,606,841 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6286:Slc9c1
|
UTSW |
16 |
45,577,831 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7268:Slc9c1
|
UTSW |
16 |
45,550,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7272:Slc9c1
|
UTSW |
16 |
45,581,515 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7431:Slc9c1
|
UTSW |
16 |
45,593,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7573:Slc9c1
|
UTSW |
16 |
45,577,893 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7881:Slc9c1
|
UTSW |
16 |
45,582,969 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8207:Slc9c1
|
UTSW |
16 |
45,539,713 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8302:Slc9c1
|
UTSW |
16 |
45,547,695 (GRCm38) |
missense |
probably benign |
|
|
R8328:Slc9c1
|
UTSW |
16 |
45,577,864 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8421:Slc9c1
|
UTSW |
16 |
45,593,371 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8691:Slc9c1
|
UTSW |
16 |
45,606,819 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8712:Slc9c1
|
UTSW |
16 |
45,560,283 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9128:Slc9c1
|
UTSW |
16 |
45,580,127 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9191:Slc9c1
|
UTSW |
16 |
45,599,781 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R9230:Slc9c1
|
UTSW |
16 |
45,577,912 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9248:Slc9c1
|
UTSW |
16 |
45,550,188 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9417:Slc9c1
|
UTSW |
16 |
45,593,485 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9519:Slc9c1
|
UTSW |
16 |
45,575,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9570:Slc9c1
|
UTSW |
16 |
45,560,342 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9686:Slc9c1
|
UTSW |
16 |
45,580,214 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9695:Slc9c1
|
UTSW |
16 |
45,547,663 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9742:Slc9c1
|
UTSW |
16 |
45,580,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
V8831:Slc9c1
|
UTSW |
16 |
45,577,899 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Z1176:Slc9c1
|
UTSW |
16 |
45,558,238 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
Z1177:Slc9c1
|
UTSW |
16 |
45,573,419 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2020-07-28 |
Incidental Mutation