Incidental Mutation 'R0490:Nek8'
| ID |
43455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nek8
|
| Ensembl Gene |
ENSMUSG00000017405 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 8 |
| Synonyms |
4632401F23Rik, b2b1449Clo |
| MMRRC Submission |
038688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R0490 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78056932-78067501 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78058555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 582
(I582F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017549
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017530]
[ENSMUST00000017549]
[ENSMUST00000148154]
|
| AlphaFold |
Q91ZR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017530
|
| SMART Domains |
Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
57 |
1.41e-4 |
SMART |
|
Pfam:zf-TRAF
|
102 |
156 |
3.4e-19 |
PFAM |
|
Pfam:zf-TRAF
|
156 |
210 |
4e-12 |
PFAM |
|
Pfam:zf-TRAF
|
210 |
269 |
4.2e-23 |
PFAM |
|
low complexity region
|
287 |
302 |
N/A |
INTRINSIC |
|
MATH
|
312 |
445 |
1.04e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017549
AA Change: I582F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: I582F
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
258 |
1.59e-81 |
SMART |
|
low complexity region
|
288 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
415 |
464 |
4.1e-12 |
PFAM |
|
Pfam:RCC1_2
|
451 |
480 |
9.2e-10 |
PFAM |
|
Pfam:RCC1
|
467 |
516 |
9.9e-16 |
PFAM |
|
Pfam:RCC1
|
585 |
634 |
4.4e-15 |
PFAM |
|
Pfam:RCC1
|
637 |
687 |
2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149437
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148154
|
| SMART Domains |
Protein: ENSMUSP00000127554
Gene: ENSMUSG00000017405
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
103 |
4.1e-20 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
103 |
3.2e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: This gene encodes a NIMA-related kinase. Members of this serine/threonine protein kinase family are structurally-related to NIMA (never in mitosis, gene A) which controls mitotic signaling in Aspergillus nidulans. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice display kidney cysts primarily in the cortex, progressive kidney enlargement, increased serum creatinine levels, impaired maternal nurturing, and premature death. Heterotaxy with congenital heart disease such as hypoplastic right ventricle and small tricuspid valve is seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,103,338 (GRCm39) |
Y640N |
probably damaging |
Het |
| Adamts9 |
T |
A |
6: 92,849,847 (GRCm39) |
Q402L |
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,724,414 (GRCm39) |
T750A |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,597,890 (GRCm39) |
|
probably benign |
Het |
| Ap4e1 |
T |
A |
2: 126,888,106 (GRCm39) |
N404K |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,586,190 (GRCm39) |
|
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,941,660 (GRCm39) |
T169S |
possibly damaging |
Het |
| Bod1l |
G |
T |
5: 41,979,235 (GRCm39) |
T693N |
probably damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,536,970 (GRCm39) |
V226D |
probably benign |
Het |
| Cd48 |
A |
G |
1: 171,532,445 (GRCm39) |
*241W |
probably null |
Het |
| Cdon |
C |
A |
9: 35,363,978 (GRCm39) |
S32Y |
probably damaging |
Het |
| Cers3 |
A |
G |
7: 66,423,438 (GRCm39) |
S128G |
possibly damaging |
Het |
| Cntn6 |
T |
C |
6: 104,810,879 (GRCm39) |
V641A |
possibly damaging |
Het |
| Col6a4 |
G |
A |
9: 105,890,969 (GRCm39) |
T1775I |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,919,393 (GRCm39) |
V1122A |
probably benign |
Het |
| Dst |
G |
T |
1: 34,346,449 (GRCm39) |
G5102* |
probably null |
Het |
| Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
| Epha5 |
G |
T |
5: 84,255,833 (GRCm39) |
|
probably benign |
Het |
| Fscb |
G |
A |
12: 64,519,661 (GRCm39) |
P602S |
unknown |
Het |
| Fxn |
A |
G |
19: 24,254,543 (GRCm39) |
|
probably null |
Het |
| Gipc2 |
A |
G |
3: 151,808,291 (GRCm39) |
L254P |
possibly damaging |
Het |
| Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
| Gng8 |
A |
G |
7: 16,628,908 (GRCm39) |
T14A |
probably benign |
Het |
| Gsdmc3 |
C |
T |
15: 63,732,099 (GRCm39) |
G309D |
possibly damaging |
Het |
| Gsr |
T |
A |
8: 34,161,540 (GRCm39) |
|
probably benign |
Het |
| Gtdc1 |
A |
T |
2: 44,525,052 (GRCm39) |
D152E |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,392,281 (GRCm39) |
D4063G |
probably damaging |
Het |
| Hsdl2 |
C |
T |
4: 59,612,814 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,021,363 (GRCm39) |
|
probably benign |
Het |
| Kcnj10 |
A |
G |
1: 172,197,019 (GRCm39) |
T178A |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,821,962 (GRCm39) |
I2958F |
possibly damaging |
Het |
| Lnx1 |
T |
A |
5: 74,781,008 (GRCm39) |
|
probably null |
Het |
| Lpl |
A |
G |
8: 69,349,343 (GRCm39) |
R290G |
probably damaging |
Het |
| Mamdc4 |
C |
T |
2: 25,453,593 (GRCm39) |
R1196K |
probably benign |
Het |
| Mogat2 |
T |
C |
7: 98,872,351 (GRCm39) |
S167G |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,801,864 (GRCm39) |
D1237E |
probably damaging |
Het |
| Or2y8 |
A |
G |
11: 52,035,493 (GRCm39) |
I288T |
probably damaging |
Het |
| Or5b104 |
A |
G |
19: 13,072,176 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,219 (GRCm39) |
L245P |
probably damaging |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,833 (GRCm39) |
S504P |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,226,451 (GRCm39) |
S223P |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,806,450 (GRCm39) |
I566V |
probably damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,793,495 (GRCm39) |
S549P |
probably damaging |
Het |
| Rita1 |
A |
T |
5: 120,749,630 (GRCm39) |
F28I |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 92,026,473 (GRCm39) |
|
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,874,931 (GRCm39) |
K170E |
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,889,727 (GRCm39) |
R199W |
probably damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,984 (GRCm39) |
V195A |
probably benign |
Het |
| Trav7d-3 |
C |
A |
14: 52,982,007 (GRCm39) |
|
probably benign |
Het |
| Trim15 |
T |
C |
17: 37,177,247 (GRCm39) |
K138E |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,539,174 (GRCm39) |
H34604L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,577,876 (GRCm39) |
R16012K |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,808,296 (GRCm39) |
V496A |
probably benign |
Het |
| Zfy2 |
A |
T |
Y: 2,106,620 (GRCm39) |
S671R |
possibly damaging |
Het |
| Zswim1 |
T |
A |
2: 164,667,203 (GRCm39) |
Y152N |
possibly damaging |
Het |
|
| Other mutations in Nek8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Nek8
|
APN |
11 |
78,058,653 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00914:Nek8
|
APN |
11 |
78,063,901 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
nerkkod
|
UTSW |
11 |
78,063,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Nek8
|
UTSW |
11 |
78,062,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0657:Nek8
|
UTSW |
11 |
78,062,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1033:Nek8
|
UTSW |
11 |
78,062,111 (GRCm39) |
missense |
probably null |
1.00 |
|
R2848:Nek8
|
UTSW |
11 |
78,058,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3406:Nek8
|
UTSW |
11 |
78,061,572 (GRCm39) |
nonsense |
probably null |
|
|
R4211:Nek8
|
UTSW |
11 |
78,061,309 (GRCm39) |
missense |
probably benign |
|
|
R4810:Nek8
|
UTSW |
11 |
78,058,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4811:Nek8
|
UTSW |
11 |
78,058,544 (GRCm39) |
splice site |
probably null |
|
|
R5108:Nek8
|
UTSW |
11 |
78,063,353 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5124:Nek8
|
UTSW |
11 |
78,063,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Nek8
|
UTSW |
11 |
78,061,297 (GRCm39) |
nonsense |
probably null |
|
|
R5212:Nek8
|
UTSW |
11 |
78,063,342 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R5386:Nek8
|
UTSW |
11 |
78,061,263 (GRCm39) |
splice site |
probably null |
|
|
R5921:Nek8
|
UTSW |
11 |
78,063,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Nek8
|
UTSW |
11 |
78,058,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8010:Nek8
|
UTSW |
11 |
78,067,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Nek8
|
UTSW |
11 |
78,061,587 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8784:Nek8
|
UTSW |
11 |
78,063,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Nek8
|
UTSW |
11 |
78,063,342 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9555:Nek8
|
UTSW |
11 |
78,067,390 (GRCm39) |
missense |
probably benign |
0.21 |
|
X0026:Nek8
|
UTSW |
11 |
78,058,931 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTCCATGTTGATTGCTGCC -3'
(R):5'- GCCCTCCTTGGATGCAAAGTATCTC -3'
Sequencing Primer
(F):5'- TGCTGCCAAAAGTATAGCAGTC -3'
(R):5'- GGCTGATACAAACTTCTGGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation