Incidental Mutation 'R8271:Nek1'
| ID |
637724 |
| 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 |
067652-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8271 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61558646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 931
(V931M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034065]
[ENSMUST00000120689]
[ENSMUST00000211256]
[ENSMUST00000211672]
|
| AlphaFold |
P51954 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034065
AA Change: V903M
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: V903M
| 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: V931M
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: V931M
| 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: V878M
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211672
AA Change: V975M
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,736,212 (GRCm39) |
I202L |
probably benign |
Het |
| Acadsb |
A |
T |
7: 131,045,423 (GRCm39) |
T452S |
unknown |
Het |
| Ago2 |
A |
T |
15: 72,991,315 (GRCm39) |
L541Q |
probably damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,200,812 (GRCm39) |
E553V |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,910,663 (GRCm39) |
K442E |
unknown |
Het |
| Bicd1 |
A |
G |
6: 149,414,633 (GRCm39) |
T449A |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,645,919 (GRCm39) |
Q150L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,499,610 (GRCm39) |
G599R |
probably damaging |
Het |
| Camta2 |
T |
A |
11: 70,561,886 (GRCm39) |
Q1076L |
probably benign |
Het |
| Capza2 |
T |
A |
6: 17,657,214 (GRCm39) |
C157S |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,162,114 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,251,483 (GRCm39) |
D516V |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,999,832 (GRCm39) |
T197A |
probably benign |
Het |
| Comp |
A |
G |
8: 70,829,110 (GRCm39) |
N260S |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
| Defb22 |
C |
T |
2: 152,327,712 (GRCm39) |
V158I |
unknown |
Het |
| Diaph3 |
T |
C |
14: 87,103,949 (GRCm39) |
S812G |
probably damaging |
Het |
| Dohh |
G |
T |
10: 81,221,844 (GRCm39) |
Q79H |
probably benign |
Het |
| Dyrk1b |
T |
G |
7: 27,882,080 (GRCm39) |
V147G |
probably benign |
Het |
| Fastkd2 |
C |
T |
1: 63,787,183 (GRCm39) |
T539I |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,306,622 (GRCm39) |
D229N |
probably damaging |
Het |
| Kcnv1 |
A |
T |
15: 44,972,754 (GRCm39) |
D376E |
probably benign |
Het |
| Kif13a |
C |
A |
13: 46,906,057 (GRCm39) |
V1577F |
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
| Mcoln2 |
A |
C |
3: 145,898,179 (GRCm39) |
N100T |
unknown |
Het |
| Mdh1b |
C |
T |
1: 63,759,164 (GRCm39) |
V143M |
possibly damaging |
Het |
| Mfsd4b4 |
G |
T |
10: 39,768,101 (GRCm39) |
Q377K |
probably benign |
Het |
| Mpv17l |
T |
C |
16: 13,762,584 (GRCm39) |
F122S |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,742,949 (GRCm39) |
S1154P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,760,261 (GRCm39) |
Y259C |
probably damaging |
Het |
| Nkd2 |
C |
A |
13: 73,969,437 (GRCm39) |
G343V |
probably damaging |
Het |
| Obox8 |
T |
A |
7: 14,065,928 (GRCm39) |
T197S |
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,784,744 (GRCm39) |
C127* |
probably null |
Het |
| Or13g1 |
G |
A |
7: 85,955,962 (GRCm39) |
R120C |
probably benign |
Het |
| Or4b1b |
A |
G |
2: 90,112,616 (GRCm39) |
F101S |
possibly damaging |
Het |
| Or5m11b |
T |
G |
2: 85,806,085 (GRCm39) |
M166R |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,805,766 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,664,980 (GRCm39) |
S342P |
probably damaging |
Het |
| Or5t7 |
T |
A |
2: 86,507,218 (GRCm39) |
H153L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,724,097 (GRCm39) |
S551T |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,953 (GRCm39) |
D557E |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,921 (GRCm39) |
D683E |
probably benign |
Het |
| Plekhb1 |
A |
G |
7: 100,305,936 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,187,464 (GRCm39) |
N90D |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,579 (GRCm39) |
D482G |
probably benign |
Het |
| Rc3h1 |
A |
T |
1: 160,768,329 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
C |
T |
7: 5,113,539 (GRCm39) |
R214H |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,092,031 (GRCm39) |
I284T |
possibly damaging |
Het |
| Smurf1 |
C |
T |
5: 144,830,897 (GRCm39) |
E293K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,023 (GRCm39) |
I276N |
probably damaging |
Het |
| Tbc1d2 |
C |
A |
4: 46,649,791 (GRCm39) |
A82S |
possibly damaging |
Het |
| Tex19.2 |
A |
G |
11: 121,008,010 (GRCm39) |
I146T |
possibly damaging |
Het |
| Tmem107 |
T |
G |
11: 68,962,281 (GRCm39) |
N79K |
probably damaging |
Het |
| Tpsab1 |
A |
T |
17: 25,564,305 (GRCm39) |
S50T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,553,594 (GRCm39) |
K31008* |
probably null |
Het |
| Ubox5 |
T |
C |
2: 130,441,629 (GRCm39) |
T353A |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,285,711 (GRCm39) |
H2445Q |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,537,698 (GRCm39) |
D499G |
probably benign |
Het |
| Xndc1 |
A |
T |
7: 101,728,343 (GRCm39) |
N247I |
possibly damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,291 (GRCm39) |
W226R |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,739,973 (GRCm39) |
Q793L |
probably damaging |
Het |
| Zfp385c |
A |
G |
11: 100,548,291 (GRCm39) |
S54P |
probably damaging |
Het |
| Zpld2 |
G |
T |
4: 133,930,278 (GRCm39) |
T9K |
unknown |
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 |
|
R7984:Nek1
|
UTSW |
8 |
61,574,087 (GRCm39) |
nonsense |
probably null |
|
|
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'- GAAGATTCTACCGCTATTGACATTC -3'
(R):5'- ACCAATGTATTCACTGCCCTTAG -3'
Sequencing Primer
(F):5'- TCTACCGCTATTGACATTCAAAATG -3'
(R):5'- ACAATTCTGGGCTGGCTA -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation