Incidental Mutation 'R8776:Nkain4'
| ID |
664690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkain4
|
| Ensembl Gene |
ENSMUSG00000027574 |
| Gene Name |
Na+/K+ transporting ATPase interacting 4 |
| Synonyms |
C030019F02Rik |
| MMRRC Submission |
068629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R8776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180576565-180596492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180585920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 48
(I48F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099342
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103053]
[ENSMUST00000108873]
[ENSMUST00000137274]
[ENSMUST00000148905]
[ENSMUST00000151494]
|
| AlphaFold |
Q9JMG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103053
AA Change: I48F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099342
Gene: ENSMUSG00000027574
AA Change: I48F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAIN
|
1 |
206 |
4.3e-88 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108873
AA Change: I48F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104501
Gene: ENSMUSG00000027574
AA Change: I48F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAIN
|
1 |
180 |
2.9e-90 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137274
AA Change: I34F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118349
Gene: ENSMUSG00000027574
AA Change: I34F
| 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: I48F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119925
Gene: ENSMUSG00000027574
AA Change: I48F
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| 4930568D16Rik |
A |
G |
2: 35,245,002 (GRCm39) |
Y117H |
probably benign |
Het |
| a |
A |
G |
2: 154,892,612 (GRCm39) |
D97G |
probably damaging |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Chst9 |
T |
A |
18: 15,586,086 (GRCm39) |
Y159F |
possibly damaging |
Het |
| Col26a1 |
G |
A |
5: 136,911,708 (GRCm39) |
R52C |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,263,701 (GRCm39) |
D3323V |
possibly damaging |
Het |
| Dennd11 |
T |
C |
6: 40,395,775 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
T |
A |
6: 83,035,619 (GRCm39) |
I44N |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,613,992 (GRCm39) |
D415G |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,650,733 (GRCm39) |
D801V |
probably damaging |
Het |
| Fam13b |
G |
A |
18: 34,584,446 (GRCm39) |
R573C |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,798,002 (GRCm39) |
I415N |
possibly damaging |
Het |
| Gm32742 |
T |
A |
9: 51,067,230 (GRCm39) |
M366L |
probably benign |
Het |
| Gm49336 |
A |
T |
14: 60,457,515 (GRCm39) |
S563T |
possibly damaging |
Het |
| Gm5475 |
T |
C |
15: 100,324,892 (GRCm39) |
F107L |
unknown |
Het |
| Lamp3 |
T |
C |
16: 19,474,252 (GRCm39) |
D374G |
probably damaging |
Het |
| Lin9 |
T |
C |
1: 180,496,450 (GRCm39) |
|
probably null |
Het |
| Mef2d |
T |
C |
3: 88,074,956 (GRCm39) |
S381P |
probably benign |
Het |
| Mfsd9 |
A |
G |
1: 40,812,915 (GRCm39) |
*467Q |
probably null |
Het |
| Mpo |
A |
G |
11: 87,693,538 (GRCm39) |
I639V |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,375 (GRCm39) |
I205T |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,154,476 (GRCm39) |
D580G |
probably benign |
Het |
| Notch4 |
C |
A |
17: 34,806,579 (GRCm39) |
R1839S |
probably damaging |
Het |
| Nr6a1 |
A |
G |
2: 38,650,244 (GRCm39) |
Y129H |
probably damaging |
Het |
| Nras |
T |
C |
3: 102,966,176 (GRCm39) |
|
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,856,286 (GRCm39) |
I114N |
possibly damaging |
Het |
| Robo1 |
G |
T |
16: 72,821,141 (GRCm39) |
E1294* |
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,343 (GRCm39) |
K331R |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,356,785 (GRCm39) |
|
probably null |
Het |
| Skint6 |
A |
C |
4: 112,661,885 (GRCm39) |
L1233R |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,621,165 (GRCm39) |
T402S |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,889 (GRCm39) |
T373A |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,283 (GRCm39) |
C144R |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,181,783 (GRCm39) |
V4184A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,544,239 (GRCm39) |
R2122H |
probably damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,532,316 (GRCm39) |
D38E |
probably benign |
Het |
| Tnnc2 |
C |
T |
2: 164,620,135 (GRCm39) |
A6T |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,320 (GRCm39) |
V1127A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,077,195 (GRCm39) |
Y1307H |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,411,509 (GRCm39) |
S223G |
probably benign |
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 |
|
R6713:Nkain4
|
UTSW |
2 |
180,585,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Nkain4
|
UTSW |
2 |
180,596,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- CCCAATGCTGAGCTTGGAAAAG -3'
(R):5'- TACTGCTCAGGGTTATGGCC -3'
Sequencing Primer
(F):5'- ATAGAGGTAGCCAAGCAC -3'
(R):5'- TGGCCCACCTGGTATAGATG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation