Incidental Mutation 'R6292:Nek1'
ID |
508502 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
044461-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6292 (G1)
|
Quality Score |
126.008 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
Type of Mutation |
splice site (114 bp from exon) |
DNA Base Change (assembly) |
A to G
at 61507770 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: ENSMUST00000142601
|
SMART Domains |
Protein: ENSMUSP00000121479 Gene: ENSMUSG00000031644
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
47 |
N/A |
INTRINSIC |
coiled coil region
|
162 |
198 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155664
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211661
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211672
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
Validation Efficiency |
100% (50/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
A |
5: 114,338,312 (GRCm39) |
V709E |
probably damaging |
Het |
Ankrd33b |
C |
T |
15: 31,325,231 (GRCm39) |
|
probably null |
Het |
Apaf1 |
T |
C |
10: 90,827,425 (GRCm39) |
T1202A |
possibly damaging |
Het |
Apip |
G |
T |
2: 102,922,812 (GRCm39) |
C210F |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,659,550 (GRCm39) |
H170L |
probably benign |
Het |
Clec16a |
T |
C |
16: 10,378,015 (GRCm39) |
|
probably null |
Het |
Ep300 |
T |
A |
15: 81,500,935 (GRCm39) |
|
probably benign |
Het |
Etl4 |
C |
T |
2: 20,748,384 (GRCm39) |
H39Y |
probably damaging |
Het |
Gdap1l1 |
A |
T |
2: 163,293,427 (GRCm39) |
I218F |
probably damaging |
Het |
Gm5141 |
A |
T |
13: 62,922,252 (GRCm39) |
C306S |
probably damaging |
Het |
Gm9961 |
C |
T |
16: 11,748,336 (GRCm39) |
|
noncoding transcript |
Het |
Gpr27 |
C |
T |
6: 99,670,619 (GRCm39) |
S327L |
possibly damaging |
Het |
Hectd3 |
A |
C |
4: 116,856,005 (GRCm39) |
T435P |
probably damaging |
Het |
Hs3st1 |
T |
A |
5: 39,772,133 (GRCm39) |
Q170L |
possibly damaging |
Het |
Hykk |
T |
C |
9: 54,828,110 (GRCm39) |
|
probably null |
Het |
Lilra5 |
T |
C |
7: 4,241,338 (GRCm39) |
S92P |
possibly damaging |
Het |
Lrig1 |
A |
T |
6: 94,593,426 (GRCm39) |
N418K |
probably damaging |
Het |
Miga1 |
A |
G |
3: 152,023,356 (GRCm39) |
F232L |
probably benign |
Het |
Mkrn2 |
T |
A |
6: 115,590,295 (GRCm39) |
M217K |
probably damaging |
Het |
Myh7b |
A |
T |
2: 155,474,316 (GRCm39) |
Q1677L |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,579,867 (GRCm39) |
E645G |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,842,752 (GRCm39) |
K1752E |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 110,051,202 (GRCm39) |
|
probably benign |
Het |
Nup133 |
A |
G |
8: 124,644,176 (GRCm39) |
V730A |
probably benign |
Het |
Or2t44 |
T |
A |
11: 58,677,063 (GRCm39) |
M1K |
probably null |
Het |
Or51v14 |
T |
A |
7: 103,261,386 (GRCm39) |
H58L |
probably damaging |
Het |
Paqr6 |
C |
T |
3: 88,275,205 (GRCm39) |
P213S |
probably damaging |
Het |
Pign |
A |
T |
1: 105,512,802 (GRCm39) |
V627D |
possibly damaging |
Het |
Rasal1 |
T |
A |
5: 120,797,685 (GRCm39) |
V139E |
probably damaging |
Het |
Scgb1b24 |
G |
T |
7: 33,443,577 (GRCm39) |
A79S |
possibly damaging |
Het |
Slc25a28 |
T |
C |
19: 43,653,031 (GRCm39) |
D210G |
probably benign |
Het |
Slc38a3 |
A |
T |
9: 107,532,353 (GRCm39) |
I393N |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,090,790 (GRCm39) |
N465D |
probably damaging |
Het |
Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
Smarca2 |
C |
T |
19: 26,608,292 (GRCm39) |
A117V |
probably damaging |
Het |
Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
Taf4 |
A |
G |
2: 179,565,780 (GRCm39) |
S872P |
probably damaging |
Het |
Tdrd3 |
G |
T |
14: 87,743,690 (GRCm39) |
C540F |
probably benign |
Het |
Thumpd1 |
A |
T |
7: 119,319,897 (GRCm39) |
L23Q |
probably benign |
Het |
Top1 |
A |
T |
2: 160,540,061 (GRCm39) |
Y213F |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
Unc79 |
C |
A |
12: 103,108,991 (GRCm39) |
A2005D |
possibly damaging |
Het |
Upb1 |
T |
C |
10: 75,274,005 (GRCm39) |
L344P |
probably damaging |
Het |
Vmn1r72 |
T |
A |
7: 11,403,579 (GRCm39) |
S290C |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
Wapl |
A |
G |
14: 34,451,152 (GRCm39) |
T729A |
probably damaging |
Het |
Washc5 |
C |
T |
15: 59,227,783 (GRCm39) |
R393H |
probably damaging |
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 |
IGL02801:Nek1
|
APN |
8 |
61,574,095 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCTACAGCGTAAACGAGAAGC -3'
(R):5'- AGTGAGACTTCCAACTTCCTCAC -3'
Sequencing Primer
(F):5'- GCTATGCAGAATAAAGCCCG -3'
(R):5'- CAAATACTATAATGTGTGTGTGTGTG -3'
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Posted On |
2018-03-15 |