Incidental Mutation 'R1813:Slc9c1'
| ID |
202591 |
| 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 |
039841-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R1813 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45535309-45607001 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45573347 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 551
(Y551F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159945
AA Change: Y551F
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: Y551F
| 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 |
0.1074 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.8%
- 20x: 90.3%
|
| Validation Efficiency |
96% (79/82) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,566,273 (GRCm38) |
N595Y |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,233,845 (GRCm38) |
|
probably benign |
Het |
| Abo |
C |
A |
2: 26,843,597 (GRCm38) |
D199Y |
probably damaging |
Het |
| Acvr1c |
A |
C |
2: 58,280,294 (GRCm38) |
V277G |
probably damaging |
Het |
| Adam23 |
G |
A |
1: 63,545,572 (GRCm38) |
A380T |
probably benign |
Het |
| Art2b |
A |
G |
7: 101,580,029 (GRCm38) |
V221A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,766,715 (GRCm38) |
S153P |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,187,080 (GRCm38) |
H174R |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,800,169 (GRCm38) |
D536G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,617,005 (GRCm38) |
N67S |
probably benign |
Het |
| Cd8a |
G |
T |
6: 71,373,963 (GRCm38) |
M137I |
possibly damaging |
Het |
| Ces2g |
T |
C |
8: 104,966,937 (GRCm38) |
F417L |
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,948,697 (GRCm38) |
N23S |
unknown |
Het |
| Cntnap2 |
T |
C |
6: 46,530,633 (GRCm38) |
Y61C |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,742,344 (GRCm38) |
E182D |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,295,850 (GRCm38) |
|
noncoding transcript |
Het |
| Dock4 |
A |
T |
12: 40,636,228 (GRCm38) |
N154I |
probably damaging |
Het |
| Dysf |
T |
G |
6: 84,151,924 (GRCm38) |
V1422G |
possibly damaging |
Het |
| E2f3 |
T |
C |
13: 29,920,176 (GRCm38) |
D140G |
probably damaging |
Het |
| Epb41l2 |
T |
A |
10: 25,441,568 (GRCm38) |
|
probably null |
Het |
| Epha2 |
A |
G |
4: 141,308,546 (GRCm38) |
K98E |
possibly damaging |
Het |
| Esyt1 |
T |
C |
10: 128,519,618 (GRCm38) |
D444G |
probably benign |
Het |
| Fam163a |
T |
C |
1: 156,080,041 (GRCm38) |
T2A |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,379,768 (GRCm38) |
|
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,105,891 (GRCm38) |
H34R |
probably benign |
Het |
| Gipr |
A |
G |
7: 19,164,071 (GRCm38) |
S79P |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,648,691 (GRCm38) |
S333P |
probably damaging |
Het |
| Gm10717 |
T |
G |
9: 3,026,317 (GRCm38) |
F205C |
probably damaging |
Het |
| Gm11639 |
A |
G |
11: 104,720,688 (GRCm38) |
K452R |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,172,893 (GRCm38) |
S208P |
probably damaging |
Het |
| Htra2 |
G |
T |
6: 83,051,602 (GRCm38) |
A318D |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 27,208,380 (GRCm38) |
D633G |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 67,791,223 (GRCm38) |
R1805H |
probably benign |
Het |
| Lama4 |
T |
A |
10: 39,033,125 (GRCm38) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 39,060,186 (GRCm38) |
V619A |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,143,428 (GRCm38) |
T1408A |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,805,410 (GRCm38) |
D779G |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,393,378 (GRCm38) |
Y255C |
possibly damaging |
Het |
| Obox6 |
A |
T |
7: 15,834,845 (GRCm38) |
H35Q |
possibly damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,598,307 (GRCm38) |
I304V |
probably damaging |
Het |
| Or8b41 |
T |
A |
9: 38,143,729 (GRCm38) |
I198N |
possibly damaging |
Het |
| Pkig |
T |
A |
2: 163,721,227 (GRCm38) |
I26N |
possibly damaging |
Het |
| Plekhm2 |
C |
T |
4: 141,642,439 (GRCm38) |
V82M |
possibly damaging |
Het |
| Plppr2 |
G |
A |
9: 21,947,924 (GRCm38) |
A446T |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,804,353 (GRCm38) |
F203L |
probably benign |
Het |
| Sh3bp1 |
A |
G |
15: 78,903,680 (GRCm38) |
K137E |
probably damaging |
Het |
| Shisa5 |
T |
A |
9: 109,056,040 (GRCm38) |
I126N |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,375,772 (GRCm38) |
L21P |
probably benign |
Het |
| Slc35f1 |
C |
T |
10: 52,933,195 (GRCm38) |
P93S |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,046,308 (GRCm38) |
T172A |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 64,921,798 (GRCm38) |
S587P |
probably benign |
Het |
| Syna |
C |
A |
5: 134,559,152 (GRCm38) |
M314I |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,003,413 (GRCm38) |
L144P |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,822,521 (GRCm38) |
T369A |
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,256,097 (GRCm38) |
C160* |
probably null |
Het |
| Trim45 |
A |
G |
3: 100,922,967 (GRCm38) |
N19S |
probably benign |
Het |
| Uba2 |
A |
G |
7: 34,151,030 (GRCm38) |
F364S |
probably damaging |
Het |
| Unc50 |
T |
A |
1: 37,437,242 (GRCm38) |
L161Q |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,201,133 (GRCm38) |
|
probably null |
Het |
| Usp25 |
A |
G |
16: 77,114,950 (GRCm38) |
I956V |
probably benign |
Het |
| Utf1 |
C |
A |
7: 139,944,300 (GRCm38) |
L143I |
probably damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,790,718 (GRCm38) |
C22Y |
probably damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,716,772 (GRCm38) |
M40L |
probably benign |
Het |
| Vmn2r43 |
A |
G |
7: 8,255,056 (GRCm38) |
V386A |
possibly damaging |
Het |
| Vps9d1 |
C |
A |
8: 123,247,039 (GRCm38) |
R335L |
probably damaging |
Het |
| Wasf1 |
T |
A |
10: 40,926,589 (GRCm38) |
V80D |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,276,016 (GRCm38) |
V1077I |
possibly damaging |
Het |
| Wnt8a |
A |
G |
18: 34,542,369 (GRCm38) |
M1V |
probably null |
Het |
| Zbtb26 |
A |
G |
2: 37,436,335 (GRCm38) |
S230P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,892,605 (GRCm38) |
V1247A |
probably damaging |
Het |
| Zfp429 |
T |
C |
13: 67,390,386 (GRCm38) |
N313S |
possibly damaging |
Het |
| Zfp74 |
A |
T |
7: 29,935,144 (GRCm38) |
C380S |
probably damaging |
Het |
| Zfyve21 |
G |
A |
12: 111,824,894 (GRCm38) |
E134K |
probably damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,689,580 (GRCm38) |
T474A |
possibly damaging |
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 |
|
|
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 |
|
R8289:Slc9c1
|
UTSW |
16 |
45,582,981 (GRCm38) |
missense |
probably benign |
0.09 |
|
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 |
PCR Primer
(F):5'- GTCTTATAGACAGGGGACAGC -3'
(R):5'- GCAAATGATACCAGATGACCG -3'
Sequencing Primer
(F):5'- GGCTGTGAACTATTTGGCAAC -3'
(R):5'- TGATACCAGATGACCGGGGAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation