Incidental Mutation 'IGL01626:Slc9b2'
ID |
92747 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc9b2
|
Ensembl Gene |
ENSMUSG00000037994 |
Gene Name |
solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 |
Synonyms |
NHE10, NHA2, nha-oc, C80638, Nhedc2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01626
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
135013083-135048606 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 135042156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 478
(H478Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051849]
[ENSMUST00000145195]
|
AlphaFold |
Q5BKR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051849
AA Change: H478Q
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000060640 Gene: ENSMUSG00000037994 AA Change: H478Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
83 |
102 |
N/A |
INTRINSIC |
Pfam:Na_H_Exchanger
|
116 |
515 |
4.4e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132405
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145195
|
SMART Domains |
Protein: ENSMUSP00000123083 Gene: ENSMUSG00000037994
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a gene trapped allele are viable and overtly normal, with no detectable abnormalities in osteoclast differentiation and function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
G |
3: 59,926,595 (GRCm39) |
D188G |
probably damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,465 (GRCm39) |
Y447C |
probably damaging |
Het |
Brd1 |
A |
T |
15: 88,585,090 (GRCm39) |
L915M |
probably damaging |
Het |
Cacna2d3 |
T |
A |
14: 28,665,564 (GRCm39) |
E152D |
possibly damaging |
Het |
Dnase2b |
A |
G |
3: 146,290,371 (GRCm39) |
|
probably null |
Het |
Ecpas |
G |
A |
4: 58,832,814 (GRCm39) |
|
probably benign |
Het |
Fat4 |
T |
C |
3: 39,005,181 (GRCm39) |
V1860A |
probably damaging |
Het |
Fbxl5 |
C |
A |
5: 43,916,047 (GRCm39) |
G455V |
probably benign |
Het |
Fpr-rs4 |
G |
A |
17: 18,242,493 (GRCm39) |
V167M |
probably damaging |
Het |
Fut7 |
C |
A |
2: 25,315,343 (GRCm39) |
Y153* |
probably null |
Het |
Gnptab |
A |
G |
10: 88,273,357 (GRCm39) |
T1045A |
probably damaging |
Het |
Gucy1a1 |
T |
A |
3: 82,015,926 (GRCm39) |
D354V |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,123,681 (GRCm39) |
V406A |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,734,890 (GRCm39) |
F160S |
probably benign |
Het |
Ice2 |
T |
G |
9: 69,314,614 (GRCm39) |
V42G |
probably benign |
Het |
L3mbtl4 |
A |
G |
17: 68,937,197 (GRCm39) |
Y406C |
probably damaging |
Het |
Lepr |
C |
T |
4: 101,590,731 (GRCm39) |
T103I |
probably benign |
Het |
Ly75 |
T |
A |
2: 60,131,359 (GRCm39) |
M1589L |
probably benign |
Het |
Map4k3 |
A |
G |
17: 80,913,238 (GRCm39) |
V644A |
probably damaging |
Het |
Micall1 |
A |
G |
15: 79,014,712 (GRCm39) |
D696G |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,555,220 (GRCm39) |
V8A |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,453,027 (GRCm39) |
D9G |
probably damaging |
Het |
Nop14 |
T |
A |
5: 34,806,689 (GRCm39) |
K472* |
probably null |
Het |
Npat |
T |
A |
9: 53,467,871 (GRCm39) |
D275E |
possibly damaging |
Het |
Nt5c1b |
A |
G |
12: 10,424,798 (GRCm39) |
T115A |
probably benign |
Het |
Or2d3c |
A |
T |
7: 106,526,627 (GRCm39) |
I13N |
probably benign |
Het |
Or6n1 |
A |
G |
1: 173,917,122 (GRCm39) |
N172S |
probably damaging |
Het |
Pnpla7 |
T |
A |
2: 24,940,905 (GRCm39) |
S1086T |
possibly damaging |
Het |
Pold1 |
C |
T |
7: 44,182,796 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
A |
G |
7: 144,035,456 (GRCm39) |
F1165L |
probably benign |
Het |
Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
Ptgs2 |
G |
A |
1: 149,979,478 (GRCm39) |
R231H |
probably damaging |
Het |
Rorc |
A |
G |
3: 94,296,094 (GRCm39) |
D91G |
probably damaging |
Het |
Scaper |
C |
T |
9: 55,819,335 (GRCm39) |
V127M |
possibly damaging |
Het |
Sema3g |
A |
T |
14: 30,943,684 (GRCm39) |
Y188F |
probably damaging |
Het |
Slc45a3 |
G |
T |
1: 131,906,725 (GRCm39) |
A400S |
possibly damaging |
Het |
Spg11 |
T |
A |
2: 121,891,452 (GRCm39) |
H1973L |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,750,609 (GRCm39) |
Y359H |
probably damaging |
Het |
Stx16 |
T |
G |
2: 173,935,813 (GRCm39) |
I248S |
probably damaging |
Het |
Sytl3 |
A |
G |
17: 7,002,839 (GRCm39) |
R287G |
probably damaging |
Het |
Tiam1 |
T |
C |
16: 89,609,856 (GRCm39) |
T82A |
probably damaging |
Het |
Trpm1 |
T |
C |
7: 63,918,637 (GRCm39) |
L659P |
probably damaging |
Het |
Ttc13 |
G |
A |
8: 125,400,477 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,590,213 (GRCm39) |
|
probably null |
Het |
Vldlr |
G |
T |
19: 27,221,173 (GRCm39) |
R613L |
probably damaging |
Het |
Wdr77 |
C |
T |
3: 105,867,002 (GRCm39) |
R35* |
probably null |
Het |
Zc3h14 |
T |
G |
12: 98,745,445 (GRCm39) |
I478R |
possibly damaging |
Het |
Zfp366 |
A |
G |
13: 99,364,920 (GRCm39) |
H27R |
probably damaging |
Het |
|
Other mutations in Slc9b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03091:Slc9b2
|
APN |
3 |
135,034,791 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03203:Slc9b2
|
APN |
3 |
135,031,973 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03377:Slc9b2
|
APN |
3 |
135,042,119 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02988:Slc9b2
|
UTSW |
3 |
135,024,179 (GRCm39) |
missense |
probably benign |
0.02 |
R0008:Slc9b2
|
UTSW |
3 |
135,042,269 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0382:Slc9b2
|
UTSW |
3 |
135,024,183 (GRCm39) |
missense |
probably damaging |
0.99 |
R0628:Slc9b2
|
UTSW |
3 |
135,029,536 (GRCm39) |
splice site |
probably benign |
|
R1263:Slc9b2
|
UTSW |
3 |
135,042,156 (GRCm39) |
missense |
probably benign |
0.17 |
R1478:Slc9b2
|
UTSW |
3 |
135,031,863 (GRCm39) |
missense |
probably benign |
0.45 |
R1809:Slc9b2
|
UTSW |
3 |
135,022,892 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2060:Slc9b2
|
UTSW |
3 |
135,032,027 (GRCm39) |
missense |
probably damaging |
0.99 |
R2119:Slc9b2
|
UTSW |
3 |
135,034,743 (GRCm39) |
splice site |
probably null |
|
R3196:Slc9b2
|
UTSW |
3 |
135,042,290 (GRCm39) |
missense |
probably benign |
0.04 |
R3805:Slc9b2
|
UTSW |
3 |
135,030,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R4127:Slc9b2
|
UTSW |
3 |
135,035,598 (GRCm39) |
missense |
probably benign |
0.00 |
R4401:Slc9b2
|
UTSW |
3 |
135,042,305 (GRCm39) |
missense |
probably benign |
0.04 |
R4402:Slc9b2
|
UTSW |
3 |
135,042,305 (GRCm39) |
missense |
probably benign |
0.04 |
R4622:Slc9b2
|
UTSW |
3 |
135,038,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R6125:Slc9b2
|
UTSW |
3 |
135,036,457 (GRCm39) |
splice site |
probably null |
|
R7081:Slc9b2
|
UTSW |
3 |
135,027,698 (GRCm39) |
missense |
probably benign |
0.10 |
R7166:Slc9b2
|
UTSW |
3 |
135,031,939 (GRCm39) |
missense |
unknown |
|
R7203:Slc9b2
|
UTSW |
3 |
135,036,422 (GRCm39) |
missense |
probably benign |
0.04 |
R7307:Slc9b2
|
UTSW |
3 |
135,024,151 (GRCm39) |
missense |
probably benign |
0.03 |
R7617:Slc9b2
|
UTSW |
3 |
135,042,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R7722:Slc9b2
|
UTSW |
3 |
135,035,596 (GRCm39) |
missense |
probably null |
0.20 |
R7748:Slc9b2
|
UTSW |
3 |
135,031,940 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7750:Slc9b2
|
UTSW |
3 |
135,031,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R8339:Slc9b2
|
UTSW |
3 |
135,030,363 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8703:Slc9b2
|
UTSW |
3 |
135,031,924 (GRCm39) |
nonsense |
probably null |
|
R8711:Slc9b2
|
UTSW |
3 |
135,030,351 (GRCm39) |
missense |
probably benign |
0.05 |
R8810:Slc9b2
|
UTSW |
3 |
135,035,530 (GRCm39) |
missense |
probably benign |
0.00 |
R9079:Slc9b2
|
UTSW |
3 |
135,042,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R9229:Slc9b2
|
UTSW |
3 |
135,042,295 (GRCm39) |
missense |
probably benign |
|
R9369:Slc9b2
|
UTSW |
3 |
135,036,446 (GRCm39) |
missense |
probably benign |
0.37 |
|
Posted On |
2013-12-09 |