Incidental Mutation 'R7512:Nek1'
| ID |
582154 |
| 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 |
045585-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7512 (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 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| Abca8b |
C |
T |
11: 109,829,275 (GRCm39) |
A1395T |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,826,691 (GRCm39) |
K1787E |
|
Het |
| Atg2a |
C |
T |
19: 6,310,106 (GRCm39) |
A1763V |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,187,457 (GRCm39) |
I1637V |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,648,740 (GRCm39) |
T20A |
probably benign |
Het |
| Ccnt2 |
T |
A |
1: 127,730,031 (GRCm39) |
S303T |
possibly damaging |
Het |
| Cdh3 |
C |
T |
8: 107,265,640 (GRCm39) |
Q228* |
probably null |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Dock2 |
A |
C |
11: 34,262,542 (GRCm39) |
C938G |
possibly damaging |
Het |
| Dync1i1 |
G |
T |
6: 5,969,410 (GRCm39) |
V412L |
possibly damaging |
Het |
| Eif1ad6 |
G |
T |
12: 87,668,751 (GRCm39) |
E128* |
probably null |
Het |
| Entrep2 |
C |
T |
7: 64,805,918 (GRCm39) |
A52T |
probably benign |
Het |
| Fam185a |
G |
A |
5: 21,652,356 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
G |
8: 72,169,507 (GRCm39) |
L133P |
possibly damaging |
Het |
| Galnt12 |
G |
A |
4: 47,108,406 (GRCm39) |
R181H |
possibly damaging |
Het |
| Gen1 |
A |
G |
12: 11,310,977 (GRCm39) |
V85A |
possibly damaging |
Het |
| Gm12185 |
A |
T |
11: 48,806,717 (GRCm39) |
I158K |
probably benign |
Het |
| Gm5624 |
T |
C |
14: 44,799,312 (GRCm39) |
R82G |
|
Het |
| Grap2 |
A |
C |
15: 80,532,754 (GRCm39) |
N307T |
probably benign |
Het |
| H6pd |
A |
G |
4: 150,080,405 (GRCm39) |
F147L |
probably benign |
Het |
| Haspin |
A |
T |
11: 73,027,418 (GRCm39) |
I557N |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,435,172 (GRCm39) |
K961N |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,872,647 (GRCm39) |
M2495T |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,877,393 (GRCm39) |
|
probably null |
Het |
| Impdh1 |
T |
C |
6: 29,207,168 (GRCm39) |
I59V |
probably benign |
Het |
| Kcnn1 |
A |
T |
8: 71,307,293 (GRCm39) |
L200Q |
possibly damaging |
Het |
| Kif5c |
T |
A |
2: 49,590,977 (GRCm39) |
H276Q |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,929,001 (GRCm39) |
L1259P |
probably damaging |
Het |
| Krtap4-1 |
A |
T |
11: 99,518,859 (GRCm39) |
C50* |
probably null |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Lrrc41 |
A |
G |
4: 115,950,191 (GRCm39) |
T535A |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,164,907 (GRCm39) |
V757D |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,288,874 (GRCm39) |
R642L |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,175,343 (GRCm39) |
|
probably null |
Het |
| Mpl |
A |
T |
4: 118,306,089 (GRCm39) |
I384N |
|
Het |
| Mtmr14 |
C |
T |
6: 113,245,652 (GRCm39) |
Q409* |
probably null |
Het |
| Oit3 |
T |
C |
10: 59,274,716 (GRCm39) |
Y28C |
probably damaging |
Het |
| Or2z8 |
T |
A |
8: 72,812,367 (GRCm39) |
I281N |
probably damaging |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,040 (GRCm39) |
I255T |
possibly damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,390 (GRCm39) |
N127Y |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,477,214 (GRCm39) |
Y186H |
possibly damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,815,418 (GRCm39) |
D636E |
probably damaging |
Het |
| Pdgfra |
A |
T |
5: 75,355,675 (GRCm39) |
R1062* |
probably null |
Het |
| Pds5b |
T |
C |
5: 150,711,807 (GRCm39) |
F922L |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,150,953 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
T |
C |
9: 101,052,532 (GRCm39) |
T226A |
possibly damaging |
Het |
| Ptprh |
G |
A |
7: 4,574,780 (GRCm39) |
T413I |
possibly damaging |
Het |
| Rora |
C |
A |
9: 69,281,367 (GRCm39) |
D382E |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,441,879 (GRCm39) |
N1308K |
probably benign |
Het |
| Sgce |
C |
T |
6: 4,707,192 (GRCm39) |
D218N |
possibly damaging |
Het |
| Slc34a3 |
A |
T |
2: 25,122,253 (GRCm39) |
|
probably null |
Het |
| Slit1 |
T |
C |
19: 41,589,074 (GRCm39) |
Y1471C |
probably damaging |
Het |
| Smarca2 |
G |
T |
19: 26,661,209 (GRCm39) |
V935L |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,688,364 (GRCm39) |
N1298S |
possibly damaging |
Het |
| Sort1 |
T |
A |
3: 108,233,323 (GRCm39) |
|
probably null |
Het |
| Spata13 |
T |
C |
14: 60,989,226 (GRCm39) |
L964P |
probably damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,128,469 (GRCm39) |
L1514F |
probably benign |
Het |
| Trav7-6 |
C |
A |
14: 53,954,552 (GRCm39) |
D47E |
probably benign |
Het |
| Ubap2l |
A |
G |
3: 89,917,803 (GRCm39) |
F864L |
unknown |
Het |
| Vmn2r102 |
C |
T |
17: 19,914,363 (GRCm39) |
P643S |
probably damaging |
Het |
| Zfp112 |
T |
A |
7: 23,824,604 (GRCm39) |
C195S |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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'- ATCCACAAGGCAATCTGAGG -3'
(R):5'- CAGTTGACTCAATGCTTTGGTGAG -3'
Sequencing Primer
(F):5'- CACAAGGCAATCTGAGGATTTATATG -3'
(R):5'- TCTATGAGAGTTAGCTGAAGAATCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation