Incidental Mutation 'R6713:Nkain4'
| ID |
529197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkain4
|
| Ensembl Gene |
ENSMUSG00000027574 |
| Gene Name |
Na+/K+ transporting ATPase interacting 4 |
| Synonyms |
C030019F02Rik |
| MMRRC Submission |
044831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180576565-180596492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 180585970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 31
(G31D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103053]
[ENSMUST00000108873]
[ENSMUST00000137274]
[ENSMUST00000148905]
[ENSMUST00000151494]
|
| AlphaFold |
Q9JMG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103053
AA Change: G31D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099342
Gene: ENSMUSG00000027574
AA Change: G31D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAIN
|
1 |
206 |
4.3e-88 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108873
AA Change: G31D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104501
Gene: ENSMUSG00000027574
AA Change: G31D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAIN
|
1 |
180 |
2.9e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134231
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137274
AA Change: G17D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118349
Gene: ENSMUSG00000027574
AA Change: G17D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAIN
|
1 |
77 |
3.6e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139929
|
| SMART Domains |
Protein: ENSMUSP00000116965
Gene: ENSMUSG00000027574
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAIN
|
15 |
144 |
2.3e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148905
AA Change: G31D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119925
Gene: ENSMUSG00000027574
AA Change: G31D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAIN
|
1 |
66 |
1.4e-36 |
PFAM |
|
Pfam:NKAIN
|
64 |
140 |
8e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151494
|
| Meta Mutation Damage Score |
0.6094 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol10a |
C |
T |
15: 77,373,051 (GRCm39) |
T229M |
possibly damaging |
Het |
| Cdh16 |
G |
A |
8: 105,346,617 (GRCm39) |
Q226* |
probably null |
Het |
| Cemip |
A |
T |
7: 83,592,845 (GRCm39) |
N1227K |
probably benign |
Het |
| Dusp13b |
A |
G |
14: 21,798,541 (GRCm39) |
V41A |
probably damaging |
Het |
| F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,847,432 (GRCm39) |
M484K |
probably benign |
Het |
| Glb1l |
A |
T |
1: 75,179,061 (GRCm39) |
H253Q |
probably benign |
Het |
| Grm8 |
T |
C |
6: 27,363,190 (GRCm39) |
E775G |
probably damaging |
Het |
| Hipk3 |
C |
T |
2: 104,276,916 (GRCm39) |
V388M |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,232,908 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,453,544 (GRCm39) |
T1491A |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,559,229 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
A |
T |
4: 129,547,777 (GRCm39) |
L257M |
probably damaging |
Het |
| Ldhc |
G |
A |
7: 46,515,955 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
C |
A |
3: 65,591,380 (GRCm39) |
A39D |
probably benign |
Het |
| Lins1 |
A |
G |
7: 66,358,230 (GRCm39) |
T122A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,769,350 (GRCm39) |
R516Q |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,255 (GRCm39) |
G72* |
probably null |
Het |
| Mpo |
A |
G |
11: 87,686,194 (GRCm39) |
T115A |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,537 (GRCm39) |
V66A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nags |
C |
A |
11: 102,037,347 (GRCm39) |
A146E |
probably benign |
Het |
| Or2y1 |
T |
G |
11: 49,385,784 (GRCm39) |
C141W |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,181 (GRCm39) |
H305L |
probably benign |
Het |
| Or5ak24 |
A |
C |
2: 85,260,883 (GRCm39) |
C97G |
probably damaging |
Het |
| Or8a1 |
A |
G |
9: 37,641,560 (GRCm39) |
C240R |
probably damaging |
Het |
| Otud6b |
C |
T |
4: 14,822,739 (GRCm39) |
V122I |
probably benign |
Het |
| Ovca2 |
C |
T |
11: 75,069,569 (GRCm39) |
S18N |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,823,916 (GRCm39) |
S370G |
unknown |
Het |
| Pias2 |
G |
A |
18: 77,153,416 (GRCm39) |
|
probably null |
Het |
| Slc2a10 |
T |
C |
2: 165,357,128 (GRCm39) |
F263L |
probably damaging |
Het |
| Slc6a17 |
T |
G |
3: 107,378,703 (GRCm39) |
M660L |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,323,638 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
G |
7: 127,134,089 (GRCm39) |
T937A |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,340,259 (GRCm39) |
D470E |
possibly damaging |
Het |
| St8sia1 |
A |
T |
6: 142,775,008 (GRCm39) |
|
probably null |
Het |
| Supt20 |
T |
A |
3: 54,606,022 (GRCm39) |
I36K |
possibly damaging |
Het |
| Tor1aip2 |
T |
A |
1: 155,941,155 (GRCm39) |
L487Q |
probably damaging |
Het |
| Zfp619 |
G |
T |
7: 39,187,322 (GRCm39) |
K1117N |
probably damaging |
Het |
|
| Other mutations in Nkain4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
H8562:Nkain4
|
UTSW |
2 |
180,584,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02799:Nkain4
|
UTSW |
2 |
180,577,728 (GRCm39) |
splice site |
probably null |
|
|
R0648:Nkain4
|
UTSW |
2 |
180,584,905 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1619:Nkain4
|
UTSW |
2 |
180,577,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4472:Nkain4
|
UTSW |
2 |
180,596,415 (GRCm39) |
start codon destroyed |
probably null |
0.80 |
|
R5666:Nkain4
|
UTSW |
2 |
180,584,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5670:Nkain4
|
UTSW |
2 |
180,584,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6191:Nkain4
|
UTSW |
2 |
180,577,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Nkain4
|
UTSW |
2 |
180,577,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Nkain4
|
UTSW |
2 |
180,596,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8776:Nkain4
|
UTSW |
2 |
180,585,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776-TAIL:Nkain4
|
UTSW |
2 |
180,585,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9355:Nkain4
|
UTSW |
2 |
180,577,775 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9732:Nkain4
|
UTSW |
2 |
180,585,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATGCTGAGCTTGGAAAAGC -3'
(R):5'- TACTGCTCAGGGTTATGGCC -3'
Sequencing Primer
(F):5'- TTAAGCCCACCCTGGACAG -3'
(R):5'- CCAAGAAGGAGTTTGTGGCCC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation