Incidental Mutation 'R6125:Nek1'
| ID |
487344 |
| 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 |
044272-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6125 (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 C
at 61481735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 217
(S217P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034065]
[ENSMUST00000120689]
[ENSMUST00000211256]
[ENSMUST00000211672]
|
| AlphaFold |
P51954 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034065
AA Change: S217P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: S217P
| 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 damaging
Transcript: ENSMUST00000120689
AA Change: S217P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: S217P
| 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: ENSMUST00000125717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210310
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211256
AA Change: S217P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211672
AA Change: S217P
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.5208 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
97% (65/67) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
T |
C |
3: 87,636,909 (GRCm39) |
F1023S |
probably damaging |
Het |
| Atp1a1 |
G |
A |
3: 101,498,023 (GRCm39) |
R255C |
probably damaging |
Het |
| Bbs12 |
A |
G |
3: 37,374,700 (GRCm39) |
I383V |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,668 (GRCm39) |
P1215L |
probably benign |
Het |
| Calm5 |
A |
T |
13: 3,904,491 (GRCm39) |
K62* |
probably null |
Het |
| Chd8 |
T |
A |
14: 52,444,491 (GRCm39) |
H398L |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,217 (GRCm39) |
T88A |
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,777,193 (GRCm39) |
H146L |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,186 (GRCm39) |
R1462H |
probably damaging |
Het |
| Dusp29 |
C |
A |
14: 21,736,758 (GRCm39) |
V115L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,168,706 (GRCm39) |
N369S |
probably damaging |
Het |
| Fer1l4 |
A |
C |
2: 155,888,907 (GRCm39) |
V422G |
probably damaging |
Het |
| Fstl4 |
T |
C |
11: 53,077,130 (GRCm39) |
M629T |
probably benign |
Het |
| Galnt18 |
A |
G |
7: 111,084,400 (GRCm39) |
Y507H |
probably damaging |
Het |
| Gar1 |
C |
A |
3: 129,624,399 (GRCm39) |
|
probably benign |
Het |
| Gm19402 |
T |
C |
10: 77,526,507 (GRCm39) |
T29A |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,034 (GRCm39) |
F92L |
unknown |
Het |
| H1f0 |
T |
A |
15: 78,913,070 (GRCm39) |
I50N |
probably damaging |
Het |
| H2-DMb1 |
A |
G |
17: 34,376,439 (GRCm39) |
Y186C |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,159 (GRCm39) |
N357S |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
C |
10: 57,388,101 (GRCm39) |
V415A |
probably benign |
Het |
| Ins2 |
C |
A |
7: 142,233,430 (GRCm39) |
|
probably null |
Het |
| Kel |
A |
T |
6: 41,667,720 (GRCm39) |
F89L |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,695,146 (GRCm39) |
N200S |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,392,386 (GRCm39) |
D1013G |
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,027,180 (GRCm39) |
G397C |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,982,797 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,043,125 (GRCm39) |
D660G |
possibly damaging |
Het |
| Mdm4 |
G |
A |
1: 132,922,248 (GRCm39) |
T298I |
possibly damaging |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,215,764 (GRCm39) |
C1487S |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,537,576 (GRCm39) |
S47P |
probably damaging |
Het |
| Or10ag59 |
T |
C |
2: 87,405,590 (GRCm39) |
I54T |
probably benign |
Het |
| Or5b123 |
C |
T |
19: 13,597,249 (GRCm39) |
A241V |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
| Perm1 |
A |
G |
4: 156,302,176 (GRCm39) |
E240G |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
| Pnpla8 |
C |
T |
12: 44,354,772 (GRCm39) |
T644M |
possibly damaging |
Het |
| Rgs2 |
T |
C |
1: 143,879,763 (GRCm39) |
K32E |
probably damaging |
Het |
| Scyl3 |
A |
T |
1: 163,778,145 (GRCm39) |
M428L |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,198,530 (GRCm39) |
D325G |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,741,002 (GRCm39) |
T548K |
probably damaging |
Het |
| Slc9b2 |
G |
A |
3: 135,036,457 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,461,560 (GRCm39) |
|
probably null |
Het |
| Stk39 |
C |
A |
2: 68,222,468 (GRCm39) |
G199C |
probably damaging |
Het |
| Tbx1 |
A |
G |
16: 18,402,216 (GRCm39) |
F263L |
probably damaging |
Het |
| Tcf21 |
G |
T |
10: 22,695,665 (GRCm39) |
N46K |
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 112,034,632 (GRCm39) |
M1357K |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,521 (GRCm39) |
L625P |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,847,387 (GRCm39) |
S1237L |
possibly damaging |
Het |
| Trdv5 |
T |
C |
14: 54,386,298 (GRCm39) |
K56E |
possibly damaging |
Het |
| Triml2 |
G |
A |
8: 43,640,659 (GRCm39) |
V172I |
probably benign |
Het |
| Trmt44 |
C |
A |
5: 35,722,842 (GRCm39) |
D409Y |
probably damaging |
Het |
| Ube2o |
C |
T |
11: 116,432,204 (GRCm39) |
A921T |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,435,576 (GRCm39) |
D404G |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,483,203 (GRCm39) |
T22A |
probably benign |
Het |
| Ugp2 |
A |
T |
11: 21,279,815 (GRCm39) |
F327L |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,521,172 (GRCm39) |
S910P |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,990,836 (GRCm39) |
Y842H |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,463,871 (GRCm39) |
D1368G |
possibly damaging |
Het |
| Zfp980 |
T |
A |
4: 145,429,208 (GRCm39) |
*646R |
probably null |
Het |
| Zranb3 |
T |
A |
1: 127,887,482 (GRCm39) |
N982Y |
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 |
|
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'- ACTAATTGCATTACTTAGGAGAGGG -3'
(R):5'- ACCACAGTCCTTGTCTTAGGTAC -3'
Sequencing Primer
(F):5'- CATTACTTAGGAGAGGGTTGTATTTC -3'
(R):5'- ACAGTCCTTGTCTTAGGTACCAGAAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation