Incidental Mutation 'R7193:Nek1'
ID |
559726 |
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 |
045334-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7193 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61526612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 661
(E661G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034065]
[ENSMUST00000120689]
[ENSMUST00000211256]
[ENSMUST00000211672]
|
AlphaFold |
P51954 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034065
AA Change: E589G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034065 Gene: ENSMUSG00000031644 AA Change: E589G
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 damaging
Transcript: ENSMUST00000120689
AA Change: E617G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113932 Gene: ENSMUSG00000031644 AA Change: E617G
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 |
probably damaging
Transcript: ENSMUST00000211256
AA Change: E564G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211672
AA Change: E661G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (60/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,265,963 (GRCm39) |
|
probably null |
Het |
Abca16 |
T |
C |
7: 120,026,409 (GRCm39) |
S124P |
probably damaging |
Het |
Acan |
A |
T |
7: 78,736,090 (GRCm39) |
S179C |
probably damaging |
Het |
Atg2b |
A |
C |
12: 105,630,967 (GRCm39) |
H319Q |
probably damaging |
Het |
Bptf |
G |
A |
11: 106,945,635 (GRCm39) |
Q2535* |
probably null |
Het |
Brpf3 |
T |
C |
17: 29,055,665 (GRCm39) |
*1205R |
probably null |
Het |
Cabyr |
C |
A |
18: 12,884,815 (GRCm39) |
P434Q |
probably damaging |
Het |
Cacna1g |
C |
A |
11: 94,300,057 (GRCm39) |
D2268Y |
possibly damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cct4 |
A |
G |
11: 22,947,111 (GRCm39) |
T201A |
probably benign |
Het |
Cdyl2 |
A |
C |
8: 117,350,733 (GRCm39) |
S133A |
probably benign |
Het |
Cep76 |
A |
G |
18: 67,774,204 (GRCm39) |
L14P |
possibly damaging |
Het |
Cert1 |
T |
A |
13: 96,767,341 (GRCm39) |
|
probably null |
Het |
Crybg3 |
A |
T |
16: 59,379,956 (GRCm39) |
S433T |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,849,423 (GRCm39) |
K574R |
probably damaging |
Het |
Cyp2u1 |
T |
C |
3: 131,084,792 (GRCm39) |
I527V |
probably benign |
Het |
Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
F5 |
A |
G |
1: 164,046,966 (GRCm39) |
N2142S |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Flnc |
A |
G |
6: 29,450,870 (GRCm39) |
Y1506C |
probably damaging |
Het |
Foxred2 |
T |
A |
15: 77,836,230 (GRCm39) |
S376C |
probably damaging |
Het |
Gbe1 |
T |
C |
16: 70,292,258 (GRCm39) |
L530P |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,525,331 (GRCm39) |
R3398G |
probably null |
Het |
Igf1r |
T |
C |
7: 67,836,905 (GRCm39) |
L587P |
probably damaging |
Het |
Ints15 |
A |
G |
5: 143,293,598 (GRCm39) |
V293A |
probably benign |
Het |
Kcna3 |
T |
C |
3: 106,943,853 (GRCm39) |
Y39H |
probably benign |
Het |
Krtap5-2 |
GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA |
GCTACAGCCTCCCTTGCA |
7: 141,728,980 (GRCm39) |
|
probably benign |
Het |
Mbl1 |
T |
C |
14: 40,880,669 (GRCm39) |
F186L |
probably damaging |
Het |
Ncam2 |
A |
T |
16: 81,386,683 (GRCm39) |
K687N |
probably damaging |
Het |
Nedd4l |
T |
C |
18: 65,130,441 (GRCm39) |
V24A |
probably damaging |
Het |
Nudt14 |
G |
T |
12: 112,902,940 (GRCm39) |
D28E |
probably benign |
Het |
Or13n4 |
T |
C |
7: 106,423,798 (GRCm39) |
|
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,459,248 (GRCm39) |
C213S |
probably benign |
Het |
Or2n1 |
T |
A |
17: 38,485,987 (GRCm39) |
I4N |
probably benign |
Het |
Or4k47 |
A |
T |
2: 111,451,600 (GRCm39) |
V273E |
probably damaging |
Het |
Pdk4 |
A |
T |
6: 5,487,089 (GRCm39) |
M319K |
probably benign |
Het |
Pfkp |
T |
C |
13: 6,643,252 (GRCm39) |
N522S |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,207,817 (GRCm39) |
V234A |
possibly damaging |
Het |
Pik3c2b |
C |
A |
1: 133,007,512 (GRCm39) |
H625Q |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,941,627 (GRCm39) |
S1117P |
probably damaging |
Het |
Prdm2 |
A |
T |
4: 142,907,464 (GRCm39) |
V36D |
probably damaging |
Het |
Prep |
C |
T |
10: 44,968,795 (GRCm39) |
R98C |
probably benign |
Het |
Rae1 |
T |
C |
2: 172,850,110 (GRCm39) |
|
probably null |
Het |
Rgs3 |
T |
A |
4: 62,533,573 (GRCm39) |
V138E |
probably damaging |
Het |
Rnf185 |
T |
C |
11: 3,375,329 (GRCm39) |
T142A |
possibly damaging |
Het |
Rsph6a |
C |
A |
7: 18,799,572 (GRCm39) |
P401Q |
probably damaging |
Het |
Runx3 |
A |
T |
4: 134,848,456 (GRCm39) |
T14S |
probably benign |
Het |
Scaf11 |
A |
G |
15: 96,317,042 (GRCm39) |
S841P |
probably damaging |
Het |
Spta1 |
T |
A |
1: 174,012,178 (GRCm39) |
L328Q |
probably damaging |
Het |
Sqor |
G |
A |
2: 122,645,929 (GRCm39) |
V318M |
probably damaging |
Het |
Stox2 |
T |
C |
8: 47,639,489 (GRCm39) |
T902A |
probably benign |
Het |
Susd3 |
T |
C |
13: 49,384,679 (GRCm39) |
H248R |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,183,406 (GRCm39) |
Y4133C |
probably damaging |
Het |
Tbc1d20 |
C |
T |
2: 152,153,337 (GRCm39) |
T289M |
probably benign |
Het |
Unc80 |
T |
A |
1: 66,588,943 (GRCm39) |
F1036Y |
possibly damaging |
Het |
Zbtb7c |
T |
C |
18: 76,271,009 (GRCm39) |
C366R |
probably damaging |
Het |
Zeb1 |
A |
T |
18: 5,772,756 (GRCm39) |
D1015V |
probably damaging |
Het |
Zfp606 |
T |
G |
7: 12,227,966 (GRCm39) |
S696A |
probably benign |
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 |
|
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 |
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'- ATATTATCCGAGGTGAGAAGGATAC -3'
(R):5'- ACAGAGTTTTACACTGACTTACCC -3'
Sequencing Primer
(F):5'- ACACACTTGCATGCTGGC -3'
(R):5'- TACCCTGATACGGTTTATGCAAGGC -3'
|
Posted On |
2019-06-26 |