Incidental Mutation 'R7479:Nek1'
ID |
579677 |
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 |
045553-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7479 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61583179 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1272
(D1272E)
|
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: D1200E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000034065 Gene: ENSMUSG00000031644 AA Change: D1200E
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: D1228E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000113932 Gene: ENSMUSG00000031644 AA Change: D1228E
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 benign
Transcript: ENSMUST00000211256
AA Change: D1175E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211672
AA Change: D1272E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
Meta Mutation Damage Score |
0.0722 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
A |
3: 124,372,142 (GRCm39) |
M81L |
probably benign |
Het |
Ano9 |
T |
C |
7: 140,682,348 (GRCm39) |
T667A |
probably damaging |
Het |
Anpep |
T |
A |
7: 79,485,118 (GRCm39) |
I623F |
probably benign |
Het |
Apba2 |
T |
C |
7: 64,389,607 (GRCm39) |
I501T |
possibly damaging |
Het |
Ascc3 |
T |
A |
10: 50,525,895 (GRCm39) |
Y536N |
probably damaging |
Het |
B4galt1 |
T |
C |
4: 40,823,587 (GRCm39) |
Y168C |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
C2 |
A |
G |
17: 35,082,441 (GRCm39) |
C647R |
probably damaging |
Het |
Cnot4 |
G |
A |
6: 35,001,083 (GRCm39) |
T604I |
probably benign |
Het |
Col11a1 |
C |
T |
3: 113,896,218 (GRCm39) |
T506I |
unknown |
Het |
Cr2 |
A |
C |
1: 194,840,718 (GRCm39) |
|
probably null |
Het |
Ctsm |
A |
T |
13: 61,685,569 (GRCm39) |
V281D |
probably damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,870,001 (GRCm39) |
I74V |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,717,590 (GRCm39) |
V529D |
probably damaging |
Het |
Dlgap3 |
C |
A |
4: 127,088,418 (GRCm39) |
H5N |
possibly damaging |
Het |
Dusp10 |
C |
A |
1: 183,769,617 (GRCm39) |
H194Q |
probably damaging |
Het |
Eln |
C |
G |
5: 134,736,429 (GRCm39) |
G753A |
unknown |
Het |
Emb |
T |
A |
13: 117,385,962 (GRCm39) |
N118K |
possibly damaging |
Het |
Fam184a |
C |
T |
10: 53,531,110 (GRCm39) |
V755I |
probably benign |
Het |
Fryl |
A |
G |
5: 73,254,904 (GRCm39) |
I846T |
possibly damaging |
Het |
Gabbr2 |
T |
A |
4: 46,681,166 (GRCm39) |
I722F |
probably damaging |
Het |
Gabrb3 |
T |
A |
7: 57,474,171 (GRCm39) |
D362E |
possibly damaging |
Het |
Galnt2 |
G |
A |
8: 125,061,077 (GRCm39) |
G357D |
probably damaging |
Het |
Gbx2 |
A |
T |
1: 89,858,373 (GRCm39) |
S35R |
probably benign |
Het |
Glg1 |
A |
G |
8: 111,924,367 (GRCm39) |
I207T |
possibly damaging |
Het |
Gm10192 |
A |
T |
4: 97,071,272 (GRCm39) |
N44K |
unknown |
Het |
Gpd1 |
A |
G |
15: 99,617,984 (GRCm39) |
D123G |
probably benign |
Het |
Grm2 |
A |
T |
9: 106,531,050 (GRCm39) |
D146E |
possibly damaging |
Het |
Gsg1l2 |
A |
G |
11: 67,676,032 (GRCm39) |
D132G |
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,515,425 (GRCm39) |
G236R |
probably damaging |
Het |
Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
Hspg2 |
C |
T |
4: 137,266,714 (GRCm39) |
A1934V |
probably benign |
Het |
Il7r |
C |
T |
15: 9,513,117 (GRCm39) |
A131T |
probably damaging |
Het |
Itga6 |
C |
T |
2: 71,668,680 (GRCm39) |
R540* |
probably null |
Het |
Kcnh2 |
A |
G |
5: 24,530,490 (GRCm39) |
|
probably null |
Het |
Kcnq4 |
C |
T |
4: 120,573,022 (GRCm39) |
A260T |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,691,517 (GRCm39) |
N3434S |
|
Het |
Lrrc41 |
C |
T |
4: 115,946,238 (GRCm39) |
P318S |
probably damaging |
Het |
Map4 |
G |
A |
9: 109,897,892 (GRCm39) |
G873R |
possibly damaging |
Het |
Med24 |
A |
G |
11: 98,595,787 (GRCm39) |
I968T |
possibly damaging |
Het |
Mfap5 |
T |
C |
6: 122,503,821 (GRCm39) |
|
probably null |
Het |
Mtcl1 |
A |
G |
17: 66,686,485 (GRCm39) |
V807A |
probably benign |
Het |
Mug1 |
T |
A |
6: 121,855,467 (GRCm39) |
S934T |
possibly damaging |
Het |
Nckap5l |
C |
A |
15: 99,321,127 (GRCm39) |
V1218F |
probably damaging |
Het |
Nkx2-4 |
T |
C |
2: 146,926,088 (GRCm39) |
E258G |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,913,281 (GRCm39) |
V545E |
probably damaging |
Het |
Ppp1r9b |
A |
G |
11: 94,882,858 (GRCm39) |
D162G |
possibly damaging |
Het |
Rhot2 |
A |
G |
17: 26,059,723 (GRCm39) |
L367P |
probably damaging |
Het |
Ripk2 |
A |
G |
4: 16,155,154 (GRCm39) |
F122L |
probably benign |
Het |
Scn11a |
T |
C |
9: 119,588,941 (GRCm39) |
T1322A |
probably benign |
Het |
Scn8a |
T |
A |
15: 100,853,358 (GRCm39) |
L115Q |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,274,462 (GRCm39) |
P1006Q |
probably damaging |
Het |
Septin11 |
A |
T |
5: 93,304,804 (GRCm39) |
N207I |
probably damaging |
Het |
Sez6l2 |
C |
T |
7: 126,562,831 (GRCm39) |
T669I |
probably damaging |
Het |
Sfxn4 |
T |
A |
19: 60,847,112 (GRCm39) |
D57V |
possibly damaging |
Het |
Smarca2 |
T |
A |
19: 26,617,887 (GRCm39) |
V306D |
probably benign |
Het |
Srgap3 |
C |
T |
6: 112,712,794 (GRCm39) |
|
probably null |
Het |
Tas2r134 |
T |
C |
2: 51,517,541 (GRCm39) |
F7L |
not run |
Het |
Tbcd |
T |
C |
11: 121,383,431 (GRCm39) |
|
probably null |
Het |
Tcn2 |
G |
A |
11: 3,867,703 (GRCm39) |
A413V |
probably damaging |
Het |
Tdp1 |
T |
C |
12: 99,857,654 (GRCm39) |
V71A |
probably benign |
Het |
Tjp1 |
T |
C |
7: 64,950,928 (GRCm39) |
T1649A |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,935,865 (GRCm39) |
E357G |
possibly damaging |
Het |
Tnrc6b |
A |
G |
15: 80,773,327 (GRCm39) |
T1158A |
probably benign |
Het |
Ttn |
C |
A |
2: 76,568,952 (GRCm39) |
E27314* |
probably null |
Het |
Vps35 |
G |
T |
8: 85,997,434 (GRCm39) |
T512K |
probably benign |
Het |
Zfp40 |
A |
T |
17: 23,396,292 (GRCm39) |
S98R |
probably benign |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
Zfp945 |
A |
T |
17: 23,070,340 (GRCm39) |
C541S |
possibly damaging |
Het |
Zfp976 |
T |
A |
7: 42,262,603 (GRCm39) |
E412D |
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 |
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 |
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'- GATCCACAAGGCAATCTGAGG -3'
(R):5'- CAGTTGACTCAATGCTTTGGTGAG -3'
Sequencing Primer
(F):5'- CACAAGGCAATCTGAGGATTTATATG -3'
(R):5'- TCTATGAGAGTTAGCTGAAGAATCC -3'
|
Posted On |
2019-10-07 |