Incidental Mutation 'R7984:Nek1'
| ID |
651374 |
| 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 |
046025-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 61574087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 1112
(E1112*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034065]
[ENSMUST00000120689]
[ENSMUST00000211256]
[ENSMUST00000211672]
|
| AlphaFold |
P51954 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034065
AA Change: E1040*
|
| SMART Domains |
Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: E1040*
| 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 null
Transcript: ENSMUST00000120689
AA Change: E1068*
|
| SMART Domains |
Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: E1068*
| 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 null
Transcript: ENSMUST00000211256
AA Change: E1015*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211672
AA Change: E1112*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (58/58) |
| 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 |
|---|
| Akr1e1 |
G |
T |
13: 4,645,679 (GRCm39) |
H226N |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,686,764 (GRCm39) |
D283G |
probably damaging |
Het |
| Angel1 |
T |
C |
12: 86,767,068 (GRCm39) |
D436G |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,578,982 (GRCm39) |
R314Q |
probably damaging |
Het |
| Apbb2 |
T |
C |
5: 66,465,035 (GRCm39) |
E629G |
probably damaging |
Het |
| Card9 |
T |
G |
2: 26,246,784 (GRCm39) |
I355L |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,414,598 (GRCm39) |
P1158S |
probably benign |
Het |
| Cpne7 |
T |
G |
8: 123,846,461 (GRCm39) |
V91G |
possibly damaging |
Het |
| Dlc1 |
T |
A |
8: 37,405,472 (GRCm39) |
T106S |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 30,989,772 (GRCm39) |
F3248Y |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,543,377 (GRCm39) |
D2264E |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,877,303 (GRCm39) |
N1078K |
unknown |
Het |
| Emc1 |
T |
A |
4: 139,102,760 (GRCm39) |
L973H |
probably damaging |
Het |
| Fer1l5 |
T |
A |
1: 36,447,702 (GRCm39) |
L955Q |
possibly damaging |
Het |
| Fpr-rs7 |
T |
C |
17: 20,333,671 (GRCm39) |
N273S |
probably benign |
Het |
| Gle1 |
T |
A |
2: 29,828,588 (GRCm39) |
Y137N |
probably damaging |
Het |
| Grik4 |
G |
A |
9: 42,582,557 (GRCm39) |
Q130* |
probably null |
Het |
| Hcn1 |
C |
T |
13: 118,112,609 (GRCm39) |
Q858* |
probably null |
Het |
| Heg1 |
A |
C |
16: 33,583,945 (GRCm39) |
S76R |
possibly damaging |
Het |
| Ikbke |
T |
A |
1: 131,203,523 (GRCm39) |
E50V |
probably null |
Het |
| Itga5 |
G |
A |
15: 103,264,379 (GRCm39) |
P297S |
probably damaging |
Het |
| Kcng1 |
C |
A |
2: 168,104,406 (GRCm39) |
R480L |
possibly damaging |
Het |
| Kdm3b |
G |
T |
18: 34,956,752 (GRCm39) |
E1236* |
probably null |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lrp5 |
A |
G |
19: 3,662,342 (GRCm39) |
F894L |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,950,477 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
G |
7: 80,003,056 (GRCm39) |
T1018P |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,752,937 (GRCm39) |
Q772R |
possibly damaging |
Het |
| Meioc |
T |
A |
11: 102,565,432 (GRCm39) |
N293K |
possibly damaging |
Het |
| Mrps24 |
A |
T |
11: 5,657,495 (GRCm39) |
C34S |
possibly damaging |
Het |
| Nt5dc2 |
A |
G |
14: 30,860,775 (GRCm39) |
S317G |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,997,151 (GRCm39) |
Q1492K |
possibly damaging |
Het |
| Or2a57 |
T |
G |
6: 43,212,730 (GRCm39) |
S63A |
probably damaging |
Het |
| Or52e4 |
T |
C |
7: 104,705,639 (GRCm39) |
F62S |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,941 (GRCm39) |
F69L |
probably benign |
Het |
| Or8b36 |
A |
G |
9: 37,937,155 (GRCm39) |
T18A |
probably damaging |
Het |
| Or9m1b |
T |
A |
2: 87,836,969 (GRCm39) |
N42I |
probably damaging |
Het |
| Or9s23 |
A |
G |
1: 92,501,144 (GRCm39) |
I84V |
probably benign |
Het |
| P2ry12 |
T |
A |
3: 59,125,022 (GRCm39) |
I218F |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,566,698 (GRCm39) |
Q11* |
probably null |
Het |
| Pcdhga3 |
C |
A |
18: 37,809,549 (GRCm39) |
D667E |
probably benign |
Het |
| Pcnx2 |
T |
G |
8: 126,485,865 (GRCm39) |
E1911A |
probably benign |
Het |
| Pibf1 |
T |
C |
14: 99,459,063 (GRCm39) |
L678P |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,387,855 (GRCm39) |
T516A |
probably benign |
Het |
| Prl2c1 |
G |
A |
13: 28,039,310 (GRCm39) |
|
probably null |
Het |
| Rnf112 |
A |
G |
11: 61,340,306 (GRCm39) |
V656A |
possibly damaging |
Het |
| Siglecf |
A |
C |
7: 43,004,655 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,856,811 (GRCm39) |
L32* |
probably null |
Het |
| Slc7a1 |
A |
G |
5: 148,278,920 (GRCm39) |
V284A |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,951,608 (GRCm39) |
H565L |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,333,465 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,929,497 (GRCm39) |
T255A |
probably benign |
Het |
| Tmem130 |
C |
T |
5: 144,692,237 (GRCm39) |
G56R |
possibly damaging |
Het |
| Trmt1l |
A |
C |
1: 151,311,489 (GRCm39) |
Q116H |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,554,094 (GRCm39) |
W30870R |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,173,973 (GRCm39) |
L1600F |
unknown |
Het |
| Vmn1r233 |
C |
T |
17: 21,214,417 (GRCm39) |
V178M |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,526 (GRCm39) |
P656L |
probably damaging |
Het |
| Vmn2r33 |
A |
T |
7: 7,566,862 (GRCm39) |
D83E |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,880,059 (GRCm39) |
V3045I |
probably benign |
Het |
| Wdr25 |
A |
T |
12: 108,976,983 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
A |
G |
7: 125,719,616 (GRCm39) |
V591A |
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 |
|
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 |
|
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'- GAGTCCTTTAGGTCTAACTACATGAC -3'
(R):5'- GAGGCAGCCATACATTTTCAAAAG -3'
Sequencing Primer
(F):5'- GTCTTCCTCCTAATGATCAATCTGTG -3'
(R):5'- TTCAAAAGGTTGATTACACTTTAACG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation