Incidental Mutation 'R1650:Nek1'
ID |
174187 |
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 |
039686-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1650 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61489110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 338
(H338L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034065]
[ENSMUST00000120689]
[ENSMUST00000211256]
[ENSMUST00000211672]
|
AlphaFold |
P51954 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034065
AA Change: H338L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000034065 Gene: ENSMUSG00000031644 AA Change: H338L
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: H338L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113932 Gene: ENSMUSG00000031644 AA Change: H338L
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: ENSMUST00000125717
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155664
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211256
AA Change: H338L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211672
AA Change: H338L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Meta Mutation Damage Score |
0.0743 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.0%
- 20x: 83.4%
|
Validation Efficiency |
99% (86/87) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
G |
2: 103,532,747 (GRCm39) |
V515G |
probably damaging |
Het |
Ark2c |
A |
C |
18: 77,550,113 (GRCm39) |
|
probably null |
Het |
Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
Atp8b1 |
A |
G |
18: 64,704,620 (GRCm39) |
|
probably benign |
Het |
Bag4 |
T |
A |
8: 26,267,452 (GRCm39) |
Q126L |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,615,474 (GRCm39) |
T659A |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,661,498 (GRCm39) |
D199G |
probably damaging |
Het |
Cfhr3 |
A |
G |
1: 139,521,564 (GRCm39) |
|
noncoding transcript |
Het |
Clca3a2 |
T |
A |
3: 144,797,973 (GRCm39) |
H164L |
probably damaging |
Het |
Col5a1 |
C |
A |
2: 27,812,171 (GRCm39) |
S84R |
unknown |
Het |
Ctsc |
T |
A |
7: 87,930,634 (GRCm39) |
L71* |
probably null |
Het |
Cyp2c70 |
A |
G |
19: 40,153,921 (GRCm39) |
Y223H |
probably benign |
Het |
Dbt |
A |
G |
3: 116,328,381 (GRCm39) |
|
probably null |
Het |
Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
Dll4 |
T |
C |
2: 119,161,611 (GRCm39) |
S398P |
probably damaging |
Het |
Dyrk4 |
T |
C |
6: 126,876,792 (GRCm39) |
K62E |
probably benign |
Het |
Fgf22 |
A |
T |
10: 79,591,023 (GRCm39) |
Y24F |
probably damaging |
Het |
Ggt5 |
A |
G |
10: 75,440,595 (GRCm39) |
R239G |
probably benign |
Het |
Gm11360 |
C |
T |
13: 28,140,379 (GRCm39) |
A81V |
unknown |
Het |
Htr5b |
T |
A |
1: 121,455,891 (GRCm39) |
T10S |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,233,583 (GRCm39) |
R1717G |
probably damaging |
Het |
Itsn2 |
T |
A |
12: 4,687,767 (GRCm39) |
V556D |
probably damaging |
Het |
Kdm3b |
T |
C |
18: 34,942,168 (GRCm39) |
V553A |
possibly damaging |
Het |
Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
Lca5l |
T |
C |
16: 95,980,140 (GRCm39) |
|
probably null |
Het |
Lmbrd1 |
T |
C |
1: 24,750,639 (GRCm39) |
W171R |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,445,732 (GRCm39) |
Y1027C |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,350,393 (GRCm39) |
Y1702* |
probably null |
Het |
Mon2 |
T |
C |
10: 122,831,682 (GRCm39) |
I1675V |
probably benign |
Het |
Mtcl1 |
T |
A |
17: 66,692,871 (GRCm39) |
K486M |
probably damaging |
Het |
Ola1 |
A |
T |
2: 72,987,238 (GRCm39) |
D131E |
possibly damaging |
Het |
Olr1 |
T |
A |
6: 129,484,052 (GRCm39) |
M7L |
probably benign |
Het |
Or1f12 |
T |
C |
13: 21,721,249 (GRCm39) |
N294D |
probably damaging |
Het |
Or4k36 |
C |
T |
2: 111,146,640 (GRCm39) |
A272V |
probably benign |
Het |
Or5t18 |
A |
T |
2: 86,637,091 (GRCm39) |
M84K |
possibly damaging |
Het |
Or5w10 |
C |
A |
2: 87,375,772 (GRCm39) |
V39L |
probably benign |
Het |
Or7g27 |
T |
G |
9: 19,249,943 (GRCm39) |
F62L |
possibly damaging |
Het |
Or9m2 |
C |
T |
2: 87,821,145 (GRCm39) |
A230V |
probably benign |
Het |
Pan2 |
G |
A |
10: 128,153,768 (GRCm39) |
E980K |
probably damaging |
Het |
Pgm1 |
C |
A |
4: 99,819,276 (GRCm39) |
Q149K |
probably benign |
Het |
Pgm1 |
A |
G |
4: 99,819,267 (GRCm39) |
K146E |
possibly damaging |
Het |
Phlpp2 |
T |
C |
8: 110,660,587 (GRCm39) |
|
probably benign |
Het |
Plekhs1 |
G |
T |
19: 56,459,474 (GRCm39) |
G75C |
probably damaging |
Het |
Plin4 |
G |
A |
17: 56,411,931 (GRCm39) |
T700I |
probably damaging |
Het |
Podxl2 |
G |
A |
6: 88,826,901 (GRCm39) |
P71L |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,745,964 (GRCm39) |
V579D |
probably damaging |
Het |
Poteg |
A |
G |
8: 27,953,813 (GRCm39) |
D318G |
probably benign |
Het |
Ppp4r3a |
A |
T |
12: 101,010,878 (GRCm39) |
D554E |
probably damaging |
Het |
Proser3 |
G |
A |
7: 30,239,751 (GRCm39) |
A451V |
probably damaging |
Het |
Shld2 |
T |
A |
14: 33,981,574 (GRCm39) |
|
probably benign |
Het |
Strc |
T |
C |
2: 121,211,366 (GRCm39) |
|
probably benign |
Het |
Syce1 |
C |
A |
7: 140,358,300 (GRCm39) |
C216F |
possibly damaging |
Het |
Syne2 |
A |
T |
12: 75,951,033 (GRCm39) |
K395* |
probably null |
Het |
Trim28 |
G |
A |
7: 12,764,776 (GRCm39) |
G831D |
possibly damaging |
Het |
Tyw1 |
A |
G |
5: 130,317,752 (GRCm39) |
I434V |
possibly damaging |
Het |
Ubox5 |
G |
A |
2: 130,442,345 (GRCm39) |
A114V |
probably benign |
Het |
Ubqln3 |
C |
T |
7: 103,790,228 (GRCm39) |
V621I |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,079,052 (GRCm39) |
D1543G |
possibly damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Wrnip1 |
C |
A |
13: 32,989,362 (GRCm39) |
H283Q |
probably benign |
Het |
Zan |
A |
T |
5: 137,392,863 (GRCm39) |
|
probably benign |
Het |
Zcchc10 |
A |
T |
11: 53,218,229 (GRCm39) |
K1* |
probably null |
Het |
Zfp592 |
T |
A |
7: 80,687,848 (GRCm39) |
S925T |
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 |
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'- TGTACCATCCTTGAAGACTTTGGCAC -3'
(R):5'- GCTGTCCAATGCTTCTGTAAGGCTC -3'
Sequencing Primer
(F):5'- CTTGAAGACTTTGGCACTAAAGATTC -3'
(R):5'- CTTCTGTAAGGCTCCTAAGTAGAGAG -3'
|
Posted On |
2014-04-24 |