Incidental Mutation 'R0761:Nek1'
ID |
70092 |
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 |
038941-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0761 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61542489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 717
(D717E)
|
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: D645E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034065 Gene: ENSMUSG00000031644 AA Change: D645E
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: D673E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113932 Gene: ENSMUSG00000031644 AA Change: D673E
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 benign
Transcript: ENSMUST00000211256
AA Change: D620E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211672
AA Change: D717E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0615 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
100% (51/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,833 (GRCm39) |
Y133C |
probably benign |
Het |
Adcy5 |
G |
A |
16: 35,091,195 (GRCm39) |
|
probably benign |
Het |
Asb17 |
A |
G |
3: 153,550,052 (GRCm39) |
K28R |
probably damaging |
Het |
Bbs10 |
G |
T |
10: 111,135,244 (GRCm39) |
C119F |
probably damaging |
Het |
Camk2g |
G |
A |
14: 20,816,280 (GRCm39) |
Q119* |
probably null |
Het |
Cdh18 |
A |
T |
15: 23,226,838 (GRCm39) |
I46L |
possibly damaging |
Het |
Cimip2a |
T |
C |
2: 25,110,135 (GRCm39) |
|
probably benign |
Het |
Clmn |
T |
A |
12: 104,747,817 (GRCm39) |
N577Y |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crocc |
T |
C |
4: 140,774,387 (GRCm39) |
E63G |
probably benign |
Het |
Crocc |
T |
C |
4: 140,757,087 (GRCm39) |
T965A |
probably benign |
Het |
Cryzl2 |
A |
G |
1: 157,293,294 (GRCm39) |
I132V |
probably benign |
Het |
Csgalnact2 |
T |
C |
6: 118,103,073 (GRCm39) |
|
probably benign |
Het |
Ctr9 |
T |
C |
7: 110,645,479 (GRCm39) |
S569P |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,255,203 (GRCm39) |
|
probably benign |
Het |
Dcp2 |
G |
A |
18: 44,543,300 (GRCm39) |
S286N |
probably benign |
Het |
Dgkz |
C |
T |
2: 91,775,696 (GRCm39) |
R189H |
probably benign |
Het |
Dst |
A |
G |
1: 34,221,848 (GRCm39) |
T2551A |
probably benign |
Het |
Kcna4 |
T |
A |
2: 107,126,417 (GRCm39) |
S384T |
probably benign |
Het |
Klhl17 |
T |
C |
4: 156,317,204 (GRCm39) |
|
probably null |
Het |
Kmt2e |
C |
A |
5: 23,708,032 (GRCm39) |
S1865* |
probably null |
Het |
L3mbtl1 |
G |
A |
2: 162,807,967 (GRCm39) |
R534H |
probably damaging |
Het |
Lmnb2 |
A |
T |
10: 80,742,088 (GRCm39) |
M1K |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,075,947 (GRCm39) |
D1784G |
probably damaging |
Het |
Lrrc34 |
A |
G |
3: 30,685,425 (GRCm39) |
|
probably null |
Het |
Megf10 |
C |
A |
18: 57,421,048 (GRCm39) |
Y895* |
probably null |
Het |
Mesd |
G |
T |
7: 83,544,951 (GRCm39) |
A143S |
probably damaging |
Het |
Mfap3l |
G |
T |
8: 61,124,615 (GRCm39) |
V286L |
possibly damaging |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Nudt12 |
A |
T |
17: 59,318,064 (GRCm39) |
D60E |
probably benign |
Het |
Nup205 |
C |
T |
6: 35,173,363 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or2j3 |
A |
T |
17: 38,616,282 (GRCm39) |
H23Q |
probably benign |
Het |
Or4a75 |
T |
C |
2: 89,448,179 (GRCm39) |
D119G |
probably damaging |
Het |
Or5w19 |
C |
T |
2: 87,698,880 (GRCm39) |
P182S |
possibly damaging |
Het |
Pacs2 |
T |
A |
12: 113,023,688 (GRCm39) |
|
probably benign |
Het |
Pcdha9 |
T |
A |
18: 37,133,016 (GRCm39) |
L695* |
probably null |
Het |
Pira12 |
A |
T |
7: 3,896,978 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
G |
11: 8,804,375 (GRCm39) |
S1739P |
probably damaging |
Het |
Polr1e |
C |
A |
4: 45,027,392 (GRCm39) |
D207E |
probably damaging |
Het |
Polr3f |
T |
A |
2: 144,376,327 (GRCm39) |
V142E |
probably damaging |
Het |
Psma6 |
T |
A |
12: 55,459,127 (GRCm39) |
W170R |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,750,191 (GRCm39) |
Y3114H |
probably benign |
Het |
Rps6ka5 |
C |
T |
12: 100,537,141 (GRCm39) |
A530T |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,674,387 (GRCm39) |
Y912H |
probably damaging |
Het |
Tnfrsf1b |
T |
C |
4: 144,942,670 (GRCm39) |
D371G |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,195,681 (GRCm39) |
V1235A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,577,102 (GRCm39) |
E24597G |
probably damaging |
Het |
Ubr2 |
G |
A |
17: 47,294,242 (GRCm39) |
P297L |
probably damaging |
Het |
Unc5d |
A |
T |
8: 29,186,560 (GRCm39) |
|
probably null |
Het |
Xpo4 |
A |
G |
14: 57,850,840 (GRCm39) |
F355L |
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 |
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 |
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'- TGTGGCACATAATTGAGAACTGACCC -3'
(R):5'- AGAACCTGAGTGATGCTGCTTTTCC -3'
Sequencing Primer
(F):5'- CACAGAGGTCAGTTAAATGAAACGT -3'
(R):5'- GAGTGATGCTGCTTTTCCTTTTC -3'
|
Posted On |
2013-09-30 |