Incidental Mutation 'R1606:Nek1'
ID |
176485 |
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 |
039643-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1606 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61577310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1097
(D1097G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034065
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034065]
[ENSMUST00000120689]
[ENSMUST00000211256]
[ENSMUST00000211672]
|
AlphaFold |
P51954 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034065
AA Change: D1097G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000034065 Gene: ENSMUSG00000031644 AA Change: D1097G
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 benign
Transcript: ENSMUST00000120689
AA Change: D1125G
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113932 Gene: ENSMUSG00000031644 AA Change: D1125G
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 benign
Transcript: ENSMUST00000211256
AA Change: D1072G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211672
AA Change: D1169G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,825,091 (GRCm39) |
D1459G |
probably damaging |
Het |
Adhfe1 |
G |
A |
1: 9,623,698 (GRCm39) |
|
probably null |
Het |
Adsl |
C |
T |
15: 80,836,425 (GRCm39) |
Q61* |
probably null |
Het |
Arhgap26 |
T |
A |
18: 39,429,925 (GRCm39) |
C214S |
probably damaging |
Het |
Armc8 |
A |
T |
9: 99,419,782 (GRCm39) |
N9K |
probably damaging |
Het |
Asxl1 |
A |
G |
2: 153,242,375 (GRCm39) |
D975G |
probably damaging |
Het |
Atp8b3 |
T |
C |
10: 80,368,412 (GRCm39) |
E187G |
probably damaging |
Het |
Bltp1 |
G |
A |
3: 36,996,548 (GRCm39) |
D1087N |
probably damaging |
Het |
Cdcp2 |
T |
C |
4: 106,959,710 (GRCm39) |
S42P |
probably damaging |
Het |
Chek1 |
A |
G |
9: 36,630,820 (GRCm39) |
L198P |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,317,406 (GRCm39) |
V423A |
probably benign |
Het |
Dpy19l2 |
A |
G |
9: 24,492,511 (GRCm39) |
S696P |
probably benign |
Het |
Echdc3 |
A |
T |
2: 6,200,438 (GRCm39) |
C183S |
possibly damaging |
Het |
Exph5 |
A |
C |
9: 53,285,595 (GRCm39) |
D892A |
probably benign |
Het |
Fam120b |
T |
A |
17: 15,622,073 (GRCm39) |
I17K |
possibly damaging |
Het |
Fbln5 |
C |
T |
12: 101,731,457 (GRCm39) |
D246N |
probably benign |
Het |
Fbxo15 |
A |
C |
18: 84,980,745 (GRCm39) |
K195T |
possibly damaging |
Het |
Fzd1 |
C |
A |
5: 4,807,514 (GRCm39) |
E23* |
probably null |
Het |
Gas2l1 |
C |
A |
11: 5,014,434 (GRCm39) |
A9S |
probably damaging |
Het |
Gcc2 |
C |
T |
10: 58,105,270 (GRCm39) |
L69F |
probably damaging |
Het |
Ggt6 |
C |
T |
11: 72,328,559 (GRCm39) |
A353V |
possibly damaging |
Het |
Gphn |
T |
A |
12: 78,730,657 (GRCm39) |
V764E |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,167,922 (GRCm39) |
Y482F |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Ifit1bl1 |
C |
T |
19: 34,571,444 (GRCm39) |
V338M |
probably benign |
Het |
Klhl14 |
T |
A |
18: 21,698,589 (GRCm39) |
Q408L |
possibly damaging |
Het |
Lacc1 |
T |
A |
14: 77,267,081 (GRCm39) |
Q394L |
probably benign |
Het |
Lcor |
T |
G |
19: 41,573,513 (GRCm39) |
M756R |
probably benign |
Het |
Lipe |
A |
G |
7: 25,087,569 (GRCm39) |
F477L |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,387,423 (GRCm39) |
|
probably null |
Het |
Megf8 |
T |
A |
7: 25,058,120 (GRCm39) |
H2131Q |
probably damaging |
Het |
Nhlrc3 |
A |
T |
3: 53,366,078 (GRCm39) |
Y138* |
probably null |
Het |
Nudcd2 |
T |
A |
11: 40,626,834 (GRCm39) |
|
probably null |
Het |
Numb |
T |
C |
12: 83,847,784 (GRCm39) |
|
probably null |
Het |
Or7h8 |
T |
G |
9: 20,124,242 (GRCm39) |
L199R |
probably benign |
Het |
Pacrg |
G |
A |
17: 11,058,725 (GRCm39) |
Q11* |
probably null |
Het |
Ppp1r37 |
A |
T |
7: 19,268,924 (GRCm39) |
M192K |
probably damaging |
Het |
Prmt8 |
T |
A |
6: 127,666,799 (GRCm39) |
K392* |
probably null |
Het |
Rab28 |
A |
T |
5: 41,855,795 (GRCm39) |
W67R |
probably damaging |
Het |
Rad21l |
C |
T |
2: 151,496,606 (GRCm39) |
C365Y |
probably damaging |
Het |
Rbm17 |
A |
T |
2: 11,600,208 (GRCm39) |
F147I |
probably benign |
Het |
Rbm46 |
A |
C |
3: 82,771,848 (GRCm39) |
F256V |
probably damaging |
Het |
Rcc1 |
A |
T |
4: 132,062,087 (GRCm39) |
|
probably null |
Het |
Rnf217 |
G |
T |
10: 31,410,807 (GRCm39) |
T296N |
possibly damaging |
Het |
Rnmt |
A |
G |
18: 68,444,724 (GRCm39) |
D231G |
possibly damaging |
Het |
Rph3al |
C |
T |
11: 75,797,367 (GRCm39) |
V110I |
probably damaging |
Het |
Rxfp2 |
T |
C |
5: 149,983,362 (GRCm39) |
M289T |
probably benign |
Het |
Sash1 |
T |
C |
10: 8,605,721 (GRCm39) |
R890G |
probably benign |
Het |
Sf3b2 |
A |
T |
19: 5,338,026 (GRCm39) |
D245E |
probably benign |
Het |
Skint9 |
A |
T |
4: 112,246,398 (GRCm39) |
V238E |
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,857,455 (GRCm39) |
D896V |
possibly damaging |
Het |
Slc35b4 |
T |
A |
6: 34,135,323 (GRCm39) |
K330* |
probably null |
Het |
Slco1a4 |
G |
T |
6: 141,785,337 (GRCm39) |
H84Q |
probably damaging |
Het |
Sptbn2 |
G |
T |
19: 4,800,270 (GRCm39) |
|
probably null |
Het |
St6galnac3 |
A |
T |
3: 152,912,305 (GRCm39) |
D227E |
probably benign |
Het |
Tek |
G |
A |
4: 94,738,004 (GRCm39) |
D685N |
probably damaging |
Het |
Trf |
G |
T |
9: 103,102,335 (GRCm39) |
|
probably null |
Het |
Trpm5 |
T |
A |
7: 142,638,908 (GRCm39) |
K288* |
probably null |
Het |
Ttn |
C |
T |
2: 76,567,356 (GRCm39) |
V27846I |
probably damaging |
Het |
Tyr |
A |
T |
7: 87,087,179 (GRCm39) |
D444E |
probably benign |
Het |
Ucp1 |
C |
A |
8: 84,021,933 (GRCm39) |
A255E |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,491,963 (GRCm39) |
D3084G |
probably benign |
Het |
Yeats4 |
T |
C |
10: 117,053,344 (GRCm39) |
Y139C |
probably damaging |
Het |
Zbtb6 |
A |
G |
2: 37,319,130 (GRCm39) |
V266A |
probably benign |
Het |
Zfp784 |
A |
T |
7: 5,038,774 (GRCm39) |
N261K |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGTCTCCTCTGCAAATCAGCACC -3'
(R):5'- AACTGAGAAGCGGTTGGTATGTCTG -3'
Sequencing Primer
(F):5'- ATAGTTGCAGAGTACCCCTCG -3'
(R):5'- TGTGGAACACACAGTGAGC -3'
|
Posted On |
2014-04-24 |