Incidental Mutation 'IGL00426:Nek8'
| ID |
332389 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nek8
|
| Ensembl Gene |
ENSMUSG00000017405 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 8 |
| Synonyms |
4632401F23Rik, b2b1449Clo |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
IGL00426
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78056932-78067501 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78058653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 549
(Q549R)
|
| 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 damaging
Transcript: ENSMUST00000017549
AA Change: Q549R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: Q549R
| 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: ENSMUST00000148218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152611
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
A |
1: 11,818,278 (GRCm39) |
E313K |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,659,542 (GRCm39) |
L332I |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,571,244 (GRCm39) |
V130A |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,124,785 (GRCm39) |
A499V |
probably benign |
Het |
| Ceacam18 |
C |
T |
7: 43,288,780 (GRCm39) |
T177I |
probably benign |
Het |
| Cspp1 |
G |
A |
1: 10,182,776 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
A |
T |
4: 96,115,749 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,115,750 (GRCm39) |
|
probably null |
Het |
| Dip2c |
T |
C |
13: 9,656,551 (GRCm39) |
F821L |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,808,006 (GRCm39) |
R85* |
probably null |
Het |
| Mcf2l |
A |
G |
8: 13,034,910 (GRCm39) |
D106G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,214 (GRCm39) |
V2259A |
possibly damaging |
Het |
| Mmp16 |
C |
T |
4: 18,011,784 (GRCm39) |
P233L |
probably benign |
Het |
| Mrpl27 |
A |
G |
11: 94,550,523 (GRCm39) |
N110S |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,119,502 (GRCm39) |
M131T |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,462,953 (GRCm39) |
T198A |
probably benign |
Het |
| Nr1d2 |
A |
G |
14: 18,215,502 (GRCm38) |
|
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,186,278 (GRCm39) |
*1347Q |
probably null |
Het |
| Pkd2l1 |
C |
T |
19: 44,144,044 (GRCm39) |
R343H |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,308,012 (GRCm39) |
L215H |
probably damaging |
Het |
| Ralgds |
T |
C |
2: 28,442,230 (GRCm39) |
L137P |
probably damaging |
Het |
| Rasa2 |
C |
T |
9: 96,426,913 (GRCm39) |
D752N |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,896,041 (GRCm39) |
K1726E |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,175,142 (GRCm39) |
|
probably benign |
Het |
| Tmem183a |
A |
G |
1: 134,277,882 (GRCm39) |
L294P |
probably damaging |
Het |
| Trav19 |
T |
C |
14: 54,083,141 (GRCm39) |
L72P |
probably damaging |
Het |
| Vapa |
T |
C |
17: 65,900,476 (GRCm39) |
T99A |
possibly damaging |
Het |
|
| Other mutations in Nek8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0490:Nek8
|
UTSW |
11 |
78,058,555 (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 |
|
| Posted On |
2015-08-05 |
Incidental Mutation