Incidental Mutation 'R9076:Nek1'
| ID |
689798 |
| 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 |
068897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9076 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 61481768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 228
(S228A)
|
| 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: S228A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: S228A
| 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: S228A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: S228A
| 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: S228A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211672
AA Change: S228A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.4891 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (67/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
A |
8: 89,054,336 (GRCm39) |
G1064R |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,106,687 (GRCm39) |
V1046A |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,570,247 (GRCm39) |
|
probably null |
Het |
| Apbb2 |
A |
C |
5: 66,469,507 (GRCm39) |
L554W |
probably damaging |
Het |
| Arhgef10 |
C |
T |
8: 15,024,993 (GRCm39) |
P722S |
probably damaging |
Het |
| B3galt9 |
A |
T |
2: 34,729,209 (GRCm39) |
Y336F |
probably damaging |
Het |
| Capns1 |
A |
C |
7: 29,893,510 (GRCm39) |
M1R |
probably null |
Het |
| Chst1 |
C |
T |
2: 92,443,761 (GRCm39) |
Q78* |
probably null |
Het |
| Clec12b |
A |
G |
6: 129,356,580 (GRCm39) |
S195P |
possibly damaging |
Het |
| Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,482,424 (GRCm39) |
N452D |
probably damaging |
Het |
| Defb40 |
A |
T |
8: 19,024,994 (GRCm39) |
Y71N |
probably benign |
Het |
| Dhx8 |
G |
T |
11: 101,629,021 (GRCm39) |
R190L |
|
Het |
| Disp1 |
G |
A |
1: 182,868,799 (GRCm39) |
T1207M |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 66,008,464 (GRCm39) |
Y787F |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,237,155 (GRCm39) |
N1010D |
probably damaging |
Het |
| Fam151a |
T |
A |
4: 106,603,254 (GRCm39) |
Y272N |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,492,938 (GRCm39) |
Y3887H |
probably damaging |
Het |
| Fpr3 |
T |
A |
17: 18,191,725 (GRCm39) |
I332N |
probably benign |
Het |
| Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
| Fv1 |
T |
C |
4: 147,953,628 (GRCm39) |
Y65H |
possibly damaging |
Het |
| Gabra6 |
G |
A |
11: 42,198,289 (GRCm39) |
A387V |
probably benign |
Het |
| Gna11 |
T |
C |
10: 81,366,715 (GRCm39) |
T332A |
|
Het |
| Gpr161 |
T |
A |
1: 165,133,757 (GRCm39) |
H6Q |
possibly damaging |
Het |
| Grin2b |
CA |
C |
6: 135,709,509 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
A |
T |
8: 88,876,827 (GRCm39) |
M290L |
probably benign |
Het |
| Ifi47 |
T |
G |
11: 48,986,842 (GRCm39) |
I203R |
probably benign |
Het |
| Ighv5-8 |
TATACAT |
TAT |
12: 113,618,583 (GRCm39) |
|
probably benign |
Het |
| Klhl10 |
A |
G |
11: 100,337,962 (GRCm39) |
M234V |
possibly damaging |
Het |
| Klra4 |
A |
G |
6: 130,039,107 (GRCm39) |
I95T |
possibly damaging |
Het |
| Krt84 |
A |
G |
15: 101,438,098 (GRCm39) |
F286L |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,350,260 (GRCm39) |
V704A |
probably benign |
Het |
| Lypd6b |
A |
T |
2: 49,837,534 (GRCm39) |
S169C |
possibly damaging |
Het |
| Mapk12 |
T |
C |
15: 89,024,611 (GRCm39) |
E22G |
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,833,983 (GRCm39) |
C340R |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,111,086 (GRCm39) |
L394P |
|
Het |
| Or2ak7 |
T |
C |
11: 58,574,722 (GRCm39) |
C8R |
probably benign |
Het |
| Or2t29 |
A |
T |
11: 58,433,782 (GRCm39) |
C186* |
probably null |
Het |
| Or2t44 |
T |
A |
11: 58,677,559 (GRCm39) |
F166L |
possibly damaging |
Het |
| Or4c119 |
C |
T |
2: 88,986,719 (GRCm39) |
E267K |
possibly damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Pcdha8 |
C |
A |
18: 37,126,285 (GRCm39) |
P256T |
possibly damaging |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,229,018 (GRCm39) |
M799K |
probably damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,083,473 (GRCm39) |
|
probably benign |
Het |
| Sae1 |
A |
G |
7: 16,070,668 (GRCm39) |
F281L |
probably benign |
Het |
| Slc25a23 |
A |
G |
17: 57,354,309 (GRCm39) |
Y366H |
probably benign |
Het |
| Slc25a25 |
G |
T |
2: 32,309,175 (GRCm39) |
T222K |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,659,452 (GRCm39) |
F914Y |
possibly damaging |
Het |
| Spef2 |
C |
A |
15: 9,653,091 (GRCm39) |
V897L |
probably benign |
Het |
| Spon2 |
C |
A |
5: 33,374,054 (GRCm39) |
E110* |
probably null |
Het |
| Sstr2 |
A |
G |
11: 113,515,177 (GRCm39) |
N32S |
probably benign |
Het |
| Stk4 |
T |
C |
2: 163,959,985 (GRCm39) |
V415A |
probably benign |
Het |
| Tcaf1 |
T |
G |
6: 42,654,372 (GRCm39) |
T607P |
probably benign |
Het |
| Ush1c |
C |
A |
7: 45,850,480 (GRCm39) |
L766F |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,383,354 (GRCm39) |
I795V |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,340,231 (GRCm39) |
S81P |
probably damaging |
Het |
| Vps45 |
A |
G |
3: 95,960,345 (GRCm39) |
|
probably benign |
Het |
| Wdr6 |
A |
G |
9: 108,451,627 (GRCm39) |
V752A |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,286,358 (GRCm39) |
R611* |
probably null |
Het |
| Zc3h6 |
T |
G |
2: 128,859,096 (GRCm39) |
Y1042* |
probably null |
Het |
| Zfp236 |
A |
G |
18: 82,638,469 (GRCm39) |
S1384P |
possibly damaging |
Het |
| Zfp800 |
A |
T |
6: 28,243,215 (GRCm39) |
N583K |
probably benign |
Het |
| Zpld1 |
T |
C |
16: 55,061,764 (GRCm39) |
S206G |
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,349,821 (GRCm39) |
S372R |
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 |
|
|
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 |
|
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'- ACTAATTGCATTACTTAGGAGAGGG -3'
(R):5'- CACCACAGTCCTTGTCTTAGGTAC -3'
Sequencing Primer
(F):5'- CATTACTTAGGAGAGGGTTGTATTTC -3'
(R):5'- ACAGTCCTTGTCTTAGGTACCAGAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation