Incidental Mutation 'IGL02801:Nek1'
| ID |
360220 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nek1
|
| Ensembl Gene |
ENSMUSG00000031644 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 1 |
| Synonyms |
kat, D8Ertd790e, kidney, anemia and testis |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 61574095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034065]
[ENSMUST00000120689]
[ENSMUST00000211256]
[ENSMUST00000211672]
|
| AlphaFold |
P51954 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034065
|
| SMART Domains |
Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
258 |
4.23e-95 |
SMART |
|
Blast:S_TKc
|
266 |
303 |
3e-7 |
BLAST |
|
low complexity region
|
321 |
337 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
402 |
N/A |
INTRINSIC |
|
coiled coil region
|
556 |
592 |
N/A |
INTRINSIC |
|
coiled coil region
|
647 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
1130 |
1141 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120689
|
| SMART Domains |
Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
258 |
4.23e-95 |
SMART |
|
Blast:S_TKc
|
266 |
303 |
3e-7 |
BLAST |
|
low complexity region
|
321 |
337 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
402 |
N/A |
INTRINSIC |
|
coiled coil region
|
487 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
533 |
N/A |
INTRINSIC |
|
coiled coil region
|
584 |
620 |
N/A |
INTRINSIC |
|
coiled coil region
|
675 |
713 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
1158 |
1169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129408
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211256
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211672
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(1) Gene trapped(1) Spontaneous(2)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap5 |
A |
T |
12: 76,375,769 (GRCm39) |
K400N |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,393,336 (GRCm39) |
I1193F |
probably damaging |
Het |
| Arhgef16 |
A |
T |
4: 154,375,964 (GRCm39) |
L10Q |
probably damaging |
Het |
| Arl10 |
T |
C |
13: 54,723,696 (GRCm39) |
V106A |
probably benign |
Het |
| Bmi1 |
T |
C |
2: 18,686,692 (GRCm39) |
Y24H |
probably damaging |
Het |
| Cd163 |
T |
A |
6: 124,297,488 (GRCm39) |
I878K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,515,696 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,445,868 (GRCm39) |
|
probably null |
Het |
| Dcp2 |
G |
T |
18: 44,550,778 (GRCm39) |
M417I |
probably damaging |
Het |
| Ddx11 |
T |
A |
17: 66,455,028 (GRCm39) |
C662S |
probably benign |
Het |
| Dhx29 |
G |
A |
13: 113,101,180 (GRCm39) |
C1241Y |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,455,010 (GRCm39) |
P37L |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,037,476 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
A |
14: 119,123,067 (GRCm39) |
K643* |
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,079,725 (GRCm39) |
S463P |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,784,104 (GRCm39) |
V1361A |
possibly damaging |
Het |
| Fads2 |
C |
A |
19: 10,060,009 (GRCm39) |
A222S |
possibly damaging |
Het |
| Fancd2 |
A |
G |
6: 113,570,278 (GRCm39) |
N1410D |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,144 (GRCm39) |
F199S |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,596 (GRCm39) |
V1637A |
possibly damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,803,220 (GRCm39) |
S442P |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,966 (GRCm39) |
T114A |
possibly damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,912 (GRCm39) |
E27G |
probably damaging |
Het |
| Isl2 |
A |
G |
9: 55,452,816 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
T |
A |
1: 153,012,529 (GRCm39) |
H715L |
probably benign |
Het |
| Lrif1 |
T |
C |
3: 106,641,930 (GRCm39) |
V102A |
possibly damaging |
Het |
| Lrrc39 |
A |
G |
3: 116,371,995 (GRCm39) |
N254S |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,883,178 (GRCm39) |
W1346R |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,360,930 (GRCm39) |
I570T |
probably damaging |
Het |
| Mlkl |
G |
A |
8: 112,043,064 (GRCm39) |
T361M |
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,797,111 (GRCm39) |
M94K |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,580,876 (GRCm39) |
C124R |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Pde1c |
G |
T |
6: 56,150,651 (GRCm39) |
N289K |
probably damaging |
Het |
| Pfas |
G |
A |
11: 68,879,103 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
A |
T |
5: 143,862,653 (GRCm39) |
I587F |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,440,755 (GRCm39) |
E721G |
possibly damaging |
Het |
| Ppp2r1b |
A |
G |
9: 50,790,127 (GRCm39) |
I435V |
probably benign |
Het |
| Psip1 |
C |
T |
4: 83,376,357 (GRCm39) |
S494N |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,017,766 (GRCm39) |
V474A |
probably benign |
Het |
| Rnf220 |
C |
T |
4: 117,130,448 (GRCm39) |
C259Y |
probably damaging |
Het |
| Sdr16c6 |
T |
C |
4: 4,076,603 (GRCm39) |
I99V |
probably benign |
Het |
| Slc36a1 |
A |
T |
11: 55,116,879 (GRCm39) |
I303F |
probably benign |
Het |
| Slc4a1 |
C |
T |
11: 102,249,972 (GRCm39) |
|
probably null |
Het |
| Syncrip |
A |
T |
9: 88,361,862 (GRCm39) |
D84E |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,043,657 (GRCm39) |
Y593H |
probably damaging |
Het |
| Tenm2 |
G |
T |
11: 35,937,857 (GRCm39) |
Y1605* |
probably null |
Het |
| Tmem135 |
T |
A |
7: 88,803,333 (GRCm39) |
H280L |
probably benign |
Het |
| Tmem229a |
T |
A |
6: 24,955,121 (GRCm39) |
Q211L |
probably benign |
Het |
| Txlna |
T |
C |
4: 129,534,201 (GRCm39) |
D5G |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,098,056 (GRCm39) |
I4V |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,055,453 (GRCm39) |
L1539S |
probably damaging |
Het |
| Zdhhc14 |
T |
G |
17: 5,777,094 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nek1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Nek1
|
APN |
8 |
61,496,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01075:Nek1
|
APN |
8 |
61,577,166 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01122:Nek1
|
APN |
8 |
61,574,000 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01151:Nek1
|
APN |
8 |
61,473,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01286:Nek1
|
APN |
8 |
61,577,250 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01377:Nek1
|
APN |
8 |
61,542,490 (GRCm39) |
missense |
probably benign |
|
|
IGL01485:Nek1
|
APN |
8 |
61,502,860 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01688:Nek1
|
APN |
8 |
61,558,631 (GRCm39) |
nonsense |
probably null |
|
|
IGL01806:Nek1
|
APN |
8 |
61,577,246 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02006:Nek1
|
APN |
8 |
61,557,226 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02304:Nek1
|
APN |
8 |
61,465,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Nek1
|
APN |
8 |
61,542,514 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02662:Nek1
|
APN |
8 |
61,557,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02806:Nek1
|
APN |
8 |
61,497,120 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03037:Nek1
|
APN |
8 |
61,487,086 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03252:Nek1
|
APN |
8 |
61,525,364 (GRCm39) |
nonsense |
probably null |
|
|
P0014:Nek1
|
UTSW |
8 |
61,524,781 (GRCm39) |
splice site |
probably benign |
|
|
R0019:Nek1
|
UTSW |
8 |
61,542,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0403:Nek1
|
UTSW |
8 |
61,559,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0464:Nek1
|
UTSW |
8 |
61,525,307 (GRCm39) |
splice site |
probably benign |
|
|
R0726:Nek1
|
UTSW |
8 |
61,542,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0761:Nek1
|
UTSW |
8 |
61,542,489 (GRCm39) |
missense |
probably benign |
|
|
R0827:Nek1
|
UTSW |
8 |
61,558,682 (GRCm39) |
splice site |
probably benign |
|
|
R0972:Nek1
|
UTSW |
8 |
61,542,465 (GRCm39) |
splice site |
probably null |
|
|
R1268:Nek1
|
UTSW |
8 |
61,475,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1343:Nek1
|
UTSW |
8 |
61,481,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1415:Nek1
|
UTSW |
8 |
61,542,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Nek1
|
UTSW |
8 |
61,578,170 (GRCm39) |
splice site |
probably benign |
|
|
R1480:Nek1
|
UTSW |
8 |
61,577,360 (GRCm39) |
splice site |
probably null |
|
|
R1526:Nek1
|
UTSW |
8 |
61,502,975 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1552:Nek1
|
UTSW |
8 |
61,459,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1606:Nek1
|
UTSW |
8 |
61,577,310 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1650:Nek1
|
UTSW |
8 |
61,489,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1757:Nek1
|
UTSW |
8 |
61,542,847 (GRCm39) |
splice site |
probably null |
|
|
R1808:Nek1
|
UTSW |
8 |
61,469,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Nek1
|
UTSW |
8 |
61,469,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2067:Nek1
|
UTSW |
8 |
61,460,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Nek1
|
UTSW |
8 |
61,577,360 (GRCm39) |
splice site |
probably null |
|
|
R2113:Nek1
|
UTSW |
8 |
61,469,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Nek1
|
UTSW |
8 |
61,481,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Nek1
|
UTSW |
8 |
61,542,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Nek1
|
UTSW |
8 |
61,472,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Nek1
|
UTSW |
8 |
61,525,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3849:Nek1
|
UTSW |
8 |
61,525,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3850:Nek1
|
UTSW |
8 |
61,525,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4418:Nek1
|
UTSW |
8 |
61,559,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4526:Nek1
|
UTSW |
8 |
61,559,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4533:Nek1
|
UTSW |
8 |
61,460,247 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4544:Nek1
|
UTSW |
8 |
61,469,338 (GRCm39) |
nonsense |
probably null |
|
|
R4677:Nek1
|
UTSW |
8 |
61,481,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4739:Nek1
|
UTSW |
8 |
61,551,545 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5068:Nek1
|
UTSW |
8 |
61,469,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Nek1
|
UTSW |
8 |
61,459,711 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5516:Nek1
|
UTSW |
8 |
61,542,523 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5855:Nek1
|
UTSW |
8 |
61,469,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6125:Nek1
|
UTSW |
8 |
61,481,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Nek1
|
UTSW |
8 |
61,525,343 (GRCm39) |
nonsense |
probably null |
|
|
R6292:Nek1
|
UTSW |
8 |
61,507,770 (GRCm39) |
splice site |
probably null |
|
|
R6296:Nek1
|
UTSW |
8 |
61,525,343 (GRCm39) |
nonsense |
probably null |
|
|
R6458:Nek1
|
UTSW |
8 |
61,553,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6568:Nek1
|
UTSW |
8 |
61,559,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6629:Nek1
|
UTSW |
8 |
61,507,367 (GRCm39) |
splice site |
probably null |
|
|
R6867:Nek1
|
UTSW |
8 |
61,525,364 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7122:Nek1
|
UTSW |
8 |
61,559,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7193:Nek1
|
UTSW |
8 |
61,526,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7272:Nek1
|
UTSW |
8 |
61,578,120 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7356:Nek1
|
UTSW |
8 |
61,573,994 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7368:Nek1
|
UTSW |
8 |
61,542,741 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7478:Nek1
|
UTSW |
8 |
61,583,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7479:Nek1
|
UTSW |
8 |
61,583,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7512:Nek1
|
UTSW |
8 |
61,583,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7715:Nek1
|
UTSW |
8 |
61,459,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7984:Nek1
|
UTSW |
8 |
61,574,087 (GRCm39) |
nonsense |
probably null |
|
|
R8271:Nek1
|
UTSW |
8 |
61,558,646 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8431:Nek1
|
UTSW |
8 |
61,487,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9076:Nek1
|
UTSW |
8 |
61,481,768 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9149:Nek1
|
UTSW |
8 |
61,574,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Nek1
|
UTSW |
8 |
61,465,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9429:Nek1
|
UTSW |
8 |
61,559,892 (GRCm39) |
missense |
probably benign |
|
|
R9563:Nek1
|
UTSW |
8 |
61,577,157 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9616:Nek1
|
UTSW |
8 |
61,473,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF023:Nek1
|
UTSW |
8 |
61,525,779 (GRCm39) |
splice site |
probably null |
|
|
X0028:Nek1
|
UTSW |
8 |
61,496,292 (GRCm39) |
missense |
probably benign |
0.19 |
|
X0066:Nek1
|
UTSW |
8 |
61,578,162 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation