Incidental Mutation 'R9417:Slc9c1'
| ID |
712136 |
| 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 # |
R9417 (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 45413848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 992
(V992A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159945
AA Change: V992A
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: V992A
| 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: 99.9%
- 20x: 99.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
A |
G |
4: 88,786,202 (GRCm39) |
Y139H |
unknown |
Het |
| Akr1b10 |
T |
C |
6: 34,371,027 (GRCm39) |
V259A |
probably benign |
Het |
| Aldh5a1 |
A |
T |
13: 25,095,673 (GRCm39) |
N481K |
probably damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,504,725 (GRCm39) |
M728K |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,590,405 (GRCm39) |
M52V |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cacna2d2 |
C |
A |
9: 107,392,689 (GRCm39) |
Y544* |
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,852,218 (GRCm39) |
D818G |
possibly damaging |
Het |
| Chd4 |
A |
G |
6: 125,097,688 (GRCm39) |
N1403S |
probably damaging |
Het |
| Cldn4 |
G |
T |
5: 134,975,174 (GRCm39) |
N142K |
probably benign |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dll1 |
T |
C |
17: 15,593,710 (GRCm39) |
Y219C |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,326,990 (GRCm39) |
I3539F |
probably damaging |
Het |
| Egfr |
T |
A |
11: 16,825,067 (GRCm39) |
L469* |
probably null |
Het |
| Elmo1 |
A |
G |
13: 20,756,573 (GRCm39) |
N554D |
possibly damaging |
Het |
| Fam234a |
A |
C |
17: 26,435,225 (GRCm39) |
F306L |
probably benign |
Het |
| Fbl |
G |
A |
7: 27,874,052 (GRCm39) |
G45D |
unknown |
Het |
| Fbxw10 |
C |
A |
11: 62,753,522 (GRCm39) |
C505* |
probably null |
Het |
| Ftcd |
G |
A |
10: 76,417,153 (GRCm39) |
G221S |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,417,716 (GRCm39) |
D305G |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,607,074 (GRCm39) |
D16G |
probably benign |
Het |
| Gsdmc3 |
T |
A |
15: 63,738,663 (GRCm39) |
D133V |
possibly damaging |
Het |
| Hpdl |
T |
C |
4: 116,677,817 (GRCm39) |
T215A |
possibly damaging |
Het |
| Ift56 |
T |
C |
6: 38,386,386 (GRCm39) |
F369S |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,236,526 (GRCm39) |
N1218K |
possibly damaging |
Het |
| Isg20 |
C |
T |
7: 78,569,605 (GRCm39) |
P192L |
probably benign |
Het |
| Itga7 |
C |
T |
10: 128,793,543 (GRCm39) |
T126M |
unknown |
Het |
| Krr1 |
A |
G |
10: 111,813,026 (GRCm39) |
I134V |
probably benign |
Het |
| Krt71 |
T |
A |
15: 101,646,731 (GRCm39) |
T326S |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,983 (GRCm39) |
V480E |
probably damaging |
Het |
| Mmp19 |
T |
A |
10: 128,630,523 (GRCm39) |
L102Q |
possibly damaging |
Het |
| Mtor |
T |
A |
4: 148,622,776 (GRCm39) |
L1952* |
probably null |
Het |
| Myo15a |
T |
A |
11: 60,378,243 (GRCm39) |
V215E |
|
Het |
| Nfs1 |
T |
A |
2: 155,965,851 (GRCm39) |
K77* |
probably null |
Het |
| Or52s1 |
A |
T |
7: 102,861,156 (GRCm39) |
I30F |
possibly damaging |
Het |
| Or9a4 |
T |
A |
6: 40,549,096 (GRCm39) |
Y259N |
|
Het |
| Pcdhga4 |
T |
C |
18: 37,820,560 (GRCm39) |
F703S |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,034,022 (GRCm39) |
S21P |
probably damaging |
Het |
| Pitrm1 |
A |
T |
13: 6,617,394 (GRCm39) |
I583F |
possibly damaging |
Het |
| Ppox |
A |
G |
1: 171,107,855 (GRCm39) |
L77P |
unknown |
Het |
| Ppp1r37 |
G |
T |
7: 19,269,658 (GRCm39) |
R114S |
probably damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,144,598 (GRCm39) |
V316A |
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,865,335 (GRCm39) |
I1214T |
probably damaging |
Het |
| Rasal3 |
A |
G |
17: 32,615,441 (GRCm39) |
F466L |
probably benign |
Het |
| Ric8b |
A |
T |
10: 84,761,447 (GRCm39) |
D41V |
probably benign |
Het |
| Rin2 |
T |
C |
2: 145,686,713 (GRCm39) |
S81P |
probably benign |
Het |
| Sft2d1 |
T |
A |
17: 8,542,139 (GRCm39) |
C128S |
probably damaging |
Het |
| Skint1 |
T |
C |
4: 111,878,509 (GRCm39) |
V147A |
probably benign |
Het |
| Sst |
A |
G |
16: 23,708,487 (GRCm39) |
S115P |
probably damaging |
Het |
| Sv2b |
G |
T |
7: 74,769,772 (GRCm39) |
S590Y |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,082,021 (GRCm39) |
V868I |
probably benign |
Het |
| Tex35 |
T |
C |
1: 156,934,789 (GRCm39) |
I42V |
possibly damaging |
Het |
| Tlr2 |
T |
C |
3: 83,744,892 (GRCm39) |
N397S |
probably damaging |
Het |
| Tmem202 |
A |
G |
9: 59,431,999 (GRCm39) |
|
probably null |
Het |
| Usp20 |
A |
G |
2: 30,873,030 (GRCm39) |
|
probably null |
Het |
| Usp32 |
C |
T |
11: 84,885,369 (GRCm39) |
R1226Q |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,688,801 (GRCm39) |
A736V |
possibly damaging |
Het |
| Vmn2r-ps117 |
T |
A |
17: 19,044,037 (GRCm39) |
L371* |
probably null |
Het |
| Wwp1 |
T |
A |
4: 19,662,215 (GRCm39) |
N127Y |
possibly damaging |
Het |
| Yae1d1 |
A |
T |
13: 18,167,770 (GRCm39) |
V41D |
probably damaging |
Het |
| Zbtb8b |
T |
C |
4: 129,326,517 (GRCm39) |
D216G |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,016,988 (GRCm39) |
S903P |
probably benign |
Het |
| Zranb1 |
G |
A |
7: 132,585,466 (GRCm39) |
G638D |
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 |
|
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'- TGGGTGACATAAATTAACCAGCG -3'
(R):5'- TTGAAACTATTTTGCTAGGGCG -3'
Sequencing Primer
(F):5'- GTGACATAAATTAACCAGCGTATGTG -3'
(R):5'- AGCTAGCCTCTGAATCCAGTGATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation