Incidental Mutation 'R7573:Slc9c1'
| ID |
586187 |
| 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 |
045659-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R7573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45535309-45607001 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45577893 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 674
(F674L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159945]
|
| AlphaFold |
Q6UJY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159945
AA Change: F674L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: F674L
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (80/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,573,268 (GRCm38) |
I49F |
|
Het |
| 1810055G02Rik |
T |
A |
19: 3,715,728 (GRCm38) |
M1K |
probably null |
Het |
| A430078G23Rik |
A |
G |
8: 3,384,918 (GRCm38) |
R188G |
probably damaging |
Het |
| Abcb1b |
G |
A |
5: 8,828,866 (GRCm38) |
C750Y |
possibly damaging |
Het |
| Abi2 |
T |
A |
1: 60,470,708 (GRCm38) |
V412D |
probably benign |
Het |
| Alk |
C |
T |
17: 71,900,792 (GRCm38) |
V983M |
probably damaging |
Het |
| Alppl2 |
A |
T |
1: 87,088,231 (GRCm38) |
W266R |
possibly damaging |
Het |
| Atp2c2 |
A |
T |
8: 119,751,269 (GRCm38) |
D695V |
probably damaging |
Het |
| B3gnt4 |
A |
T |
5: 123,510,655 (GRCm38) |
I28L |
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,419,707 (GRCm38) |
D536G |
|
Het |
| Cacna1c |
A |
G |
6: 118,604,445 (GRCm38) |
S1733P |
|
Het |
| Cacna1e |
T |
C |
1: 154,726,165 (GRCm38) |
|
probably benign |
Het |
| Capns1 |
A |
G |
7: 30,192,535 (GRCm38) |
F101L |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,922,015 (GRCm38) |
T1030A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,323,550 (GRCm38) |
T2151A |
probably benign |
Het |
| Cenpe |
T |
A |
3: 135,247,459 (GRCm38) |
L1558Q |
probably damaging |
Het |
| Cfap157 |
T |
C |
2: 32,777,508 (GRCm38) |
H521R |
probably benign |
Het |
| Crygs |
T |
A |
16: 22,805,319 (GRCm38) |
*179C |
probably null |
Het |
| Ctsb |
T |
C |
14: 63,138,101 (GRCm38) |
V172A |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,519,910 (GRCm38) |
T1686A |
probably benign |
Het |
| Cutc |
T |
C |
19: 43,759,943 (GRCm38) |
V95A |
probably benign |
Het |
| Cxcl3 |
A |
G |
5: 90,786,246 (GRCm38) |
T26A |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,125,215 (GRCm38) |
V400A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,130,122 (GRCm38) |
N1139I |
possibly damaging |
Het |
| Fam136a |
G |
A |
6: 86,366,685 (GRCm38) |
E55K |
probably benign |
Het |
| Fam151a |
A |
G |
4: 106,743,305 (GRCm38) |
D179G |
probably damaging |
Het |
| Fam178b |
T |
C |
1: 36,632,452 (GRCm38) |
D196G |
probably damaging |
Het |
| Fut9 |
A |
T |
4: 25,620,691 (GRCm38) |
M41K |
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,456,682 (GRCm38) |
Q1531R |
probably null |
Het |
| Gpr6 |
A |
T |
10: 41,070,872 (GRCm38) |
V238D |
probably damaging |
Het |
| Hoxa2 |
A |
T |
6: 52,163,303 (GRCm38) |
S234R |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,272,993 (GRCm38) |
T143A |
probably benign |
Het |
| Kcnq2 |
A |
G |
2: 181,081,589 (GRCm38) |
S693P |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,803,658 (GRCm38) |
I1732V |
probably benign |
Het |
| Klhl14 |
A |
G |
18: 21,652,154 (GRCm38) |
V72A |
probably benign |
Het |
| Krt2 |
T |
A |
15: 101,814,519 (GRCm38) |
D348V |
probably benign |
Het |
| Map4k2 |
A |
T |
19: 6,344,064 (GRCm38) |
E300D |
probably benign |
Het |
| Mars |
A |
G |
10: 127,302,810 (GRCm38) |
|
probably null |
Het |
| Mpo |
A |
G |
11: 87,797,577 (GRCm38) |
D354G |
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,777,555 (GRCm38) |
T174A |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,122,450 (GRCm38) |
C1183Y |
probably damaging |
Het |
| Nfkb2 |
C |
A |
19: 46,308,643 (GRCm38) |
Q336K |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,317,469 (GRCm38) |
|
probably null |
Het |
| Nlrp9b |
T |
C |
7: 20,019,200 (GRCm38) |
L10P |
probably damaging |
Het |
| Nrip2 |
A |
G |
6: 128,400,269 (GRCm38) |
S53G |
probably benign |
Het |
| Olfr1280 |
T |
C |
2: 111,315,932 (GRCm38) |
I151T |
probably benign |
Het |
| Olfr1537 |
C |
T |
9: 39,237,681 (GRCm38) |
V248I |
probably benign |
Het |
| Olfr535 |
G |
A |
7: 140,492,999 (GRCm38) |
M120I |
probably damaging |
Het |
| Olfr618 |
C |
T |
7: 103,597,528 (GRCm38) |
L71F |
probably benign |
Het |
| Olfr69 |
A |
G |
7: 103,767,470 (GRCm38) |
M309T |
probably benign |
Het |
| Olfr921 |
A |
T |
9: 38,775,495 (GRCm38) |
K80I |
probably damaging |
Het |
| Pak7 |
A |
G |
2: 136,116,305 (GRCm38) |
S288P |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,657,465 (GRCm38) |
F234L |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,631,347 (GRCm38) |
N616D |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,857,428 (GRCm38) |
R9C |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,055,930 (GRCm38) |
C154R |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,282,382 (GRCm38) |
W1243R |
probably benign |
Het |
| Rad17 |
C |
T |
13: 100,629,466 (GRCm38) |
A385T |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,287,943 (GRCm38) |
I522V |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,458,484 (GRCm38) |
C3804R |
|
Het |
| Ros1 |
T |
A |
10: 52,169,976 (GRCm38) |
T153S |
probably benign |
Het |
| Sema4g |
T |
C |
19: 44,997,571 (GRCm38) |
S284P |
probably damaging |
Het |
| Sept9 |
C |
T |
11: 117,199,745 (GRCm38) |
|
probably benign |
Het |
| Slc2a9 |
T |
C |
5: 38,417,226 (GRCm38) |
S236G |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,958,759 (GRCm38) |
K361N |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 64,021,770 (GRCm38) |
L88S |
unknown |
Het |
| Smarca4 |
T |
A |
9: 21,639,075 (GRCm38) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,859,489 (GRCm38) |
N198K |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,152,796 (GRCm38) |
Q1166* |
probably null |
Het |
| Stap1 |
A |
G |
5: 86,090,995 (GRCm38) |
N212S |
possibly damaging |
Het |
| Tbx2 |
C |
G |
11: 85,833,312 (GRCm38) |
A69G |
possibly damaging |
Het |
| Tmc1 |
C |
A |
19: 20,907,008 (GRCm38) |
D23Y |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,158,494 (GRCm38) |
D940E |
probably benign |
Het |
| Trim27 |
T |
A |
13: 21,180,600 (GRCm38) |
C36S |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,521,537 (GRCm38) |
G808D |
probably damaging |
Het |
| Usp17ld |
G |
T |
7: 103,250,887 (GRCm38) |
Y279* |
probably null |
Het |
| Usp40 |
G |
A |
1: 87,986,072 (GRCm38) |
A433V |
probably benign |
Het |
| Vmn1r49 |
G |
A |
6: 90,072,861 (GRCm38) |
A53V |
probably benign |
Het |
| Vmn1r84 |
T |
C |
7: 12,361,860 (GRCm38) |
N302S |
probably benign |
Het |
| Wfdc2 |
A |
T |
2: 164,565,821 (GRCm38) |
I137L |
probably benign |
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 |
|
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'- TTTCAGATACATGTTTCTTCATGCAT -3'
(R):5'- ATTTTCTACTGTCGCTCTCAATATCA -3'
Sequencing Primer
(F):5'- GCATGCCATAGAATAGTCTTCAC -3'
(R):5'- AGTTGACTGTGAGCATCCAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation