Incidental Mutation 'IGL02610:Nkain3'
| ID |
300438 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nkain3
|
| Ensembl Gene |
ENSMUSG00000055761 |
| Gene Name |
Na+/K+ transporting ATPase interacting 3 |
| Synonyms |
E130310K16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL02610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
20118874-20778866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20469459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 85
(E85G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102998]
[ENSMUST00000119374]
|
| AlphaFold |
Q3URJ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102998
AA Change: E85G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100063
Gene: ENSMUSG00000055761
AA Change: E85G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAIN
|
1 |
162 |
1e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119374
AA Change: E85G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113113
Gene: ENSMUSG00000055761
AA Change: E85G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAIN
|
1 |
180 |
7e-83 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,420,700 (GRCm39) |
V527G |
probably benign |
Het |
| Ctcfl |
C |
A |
2: 172,947,819 (GRCm39) |
|
probably benign |
Het |
| Dmd |
T |
C |
X: 82,707,762 (GRCm39) |
S359P |
probably damaging |
Het |
| Drc3 |
T |
C |
11: 60,261,419 (GRCm39) |
F190S |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,625,666 (GRCm39) |
K3943* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,772,016 (GRCm39) |
V551A |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,485,723 (GRCm39) |
L237M |
unknown |
Het |
| Gab1 |
A |
G |
8: 81,526,728 (GRCm39) |
|
probably null |
Het |
| Gm6430 |
G |
A |
1: 96,952,560 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,733 (GRCm39) |
V23E |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,165,088 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
A |
T |
7: 4,341,132 (GRCm39) |
N41I |
probably benign |
Het |
| Nfkbib |
T |
C |
7: 28,459,274 (GRCm39) |
D319G |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,774 (GRCm39) |
V249M |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
A |
G |
18: 42,781,840 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rhod |
A |
G |
19: 4,476,203 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc35f3 |
A |
T |
8: 127,047,956 (GRCm39) |
T99S |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,748 (GRCm39) |
V462A |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,798,771 (GRCm39) |
Y264C |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,755,779 (GRCm39) |
F278S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,663 (GRCm39) |
Y1276N |
probably damaging |
Het |
| Veph1 |
A |
G |
3: 66,079,588 (GRCm39) |
L309P |
probably damaging |
Het |
| Vmn1r7 |
G |
T |
6: 57,002,037 (GRCm39) |
F74L |
probably benign |
Het |
| Vsnl1 |
C |
T |
12: 11,382,072 (GRCm39) |
W103* |
probably null |
Het |
|
| Other mutations in Nkain3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
I1329:Nkain3
|
UTSW |
4 |
20,158,329 (GRCm39) |
splice site |
probably benign |
|
|
IGL03055:Nkain3
|
UTSW |
4 |
20,778,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0726:Nkain3
|
UTSW |
4 |
20,158,388 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1485:Nkain3
|
UTSW |
4 |
20,484,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1600:Nkain3
|
UTSW |
4 |
20,469,528 (GRCm39) |
splice site |
probably benign |
|
|
R1702:Nkain3
|
UTSW |
4 |
20,158,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3707:Nkain3
|
UTSW |
4 |
20,484,920 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4192:Nkain3
|
UTSW |
4 |
20,485,003 (GRCm39) |
nonsense |
probably null |
|
|
R4392:Nkain3
|
UTSW |
4 |
20,282,985 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4410:Nkain3
|
UTSW |
4 |
20,778,284 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4721:Nkain3
|
UTSW |
4 |
20,485,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5333:Nkain3
|
UTSW |
4 |
20,484,889 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5978:Nkain3
|
UTSW |
4 |
20,485,026 (GRCm39) |
splice site |
probably null |
|
|
R7208:Nkain3
|
UTSW |
4 |
20,282,892 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8921:Nkain3
|
UTSW |
4 |
20,245,902 (GRCm39) |
missense |
unknown |
|
|
R9090:Nkain3
|
UTSW |
4 |
20,484,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Nkain3
|
UTSW |
4 |
20,484,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9374:Nkain3
|
UTSW |
4 |
20,778,431 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation