Incidental Mutation 'R1966:Nek1'
| ID |
218962 |
| 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 |
039979-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1966 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
61446229-61584380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 61469330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 129
(I129R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034065]
[ENSMUST00000120689]
[ENSMUST00000211256]
[ENSMUST00000211672]
|
| AlphaFold |
P51954 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034065
AA Change: I129R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: I129R
| 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: I129R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: I129R
| 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 |
probably damaging
Transcript: ENSMUST00000211256
AA Change: I129R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211672
AA Change: I129R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,650 (GRCm39) |
V185E |
probably benign |
Het |
| Abca1 |
A |
C |
4: 53,050,409 (GRCm39) |
V1608G |
probably damaging |
Het |
| Ap2b1 |
T |
C |
11: 83,237,721 (GRCm39) |
I557T |
probably benign |
Het |
| Arhgef15 |
G |
T |
11: 68,845,501 (GRCm39) |
P117Q |
probably damaging |
Het |
| Arhgef39 |
T |
C |
4: 43,496,710 (GRCm39) |
S335G |
probably benign |
Het |
| Blm |
A |
T |
7: 80,162,934 (GRCm39) |
F139Y |
possibly damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,538,783 (GRCm39) |
R581* |
probably null |
Het |
| Cadps |
C |
A |
14: 12,822,450 (GRCm38) |
E97* |
probably null |
Het |
| Cavin2 |
T |
A |
1: 51,328,801 (GRCm39) |
L86Q |
probably damaging |
Het |
| Ccdc136 |
A |
G |
6: 29,418,091 (GRCm39) |
E787G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,159,361 (GRCm39) |
Y2138C |
probably damaging |
Het |
| Cdk12 |
T |
A |
11: 98,094,916 (GRCm39) |
Y241* |
probably null |
Het |
| Clcn4 |
T |
A |
7: 7,287,184 (GRCm39) |
*688L |
probably null |
Het |
| Cntnap1 |
T |
C |
11: 101,071,212 (GRCm39) |
V375A |
possibly damaging |
Het |
| Coq5 |
T |
A |
5: 115,432,890 (GRCm39) |
|
probably null |
Het |
| Cyp4b1 |
A |
G |
4: 115,483,076 (GRCm39) |
I405T |
probably benign |
Het |
| Det1 |
T |
C |
7: 78,492,966 (GRCm39) |
Y346C |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,683,389 (GRCm39) |
V276E |
probably damaging |
Het |
| Epb41l2 |
G |
A |
10: 25,317,666 (GRCm39) |
R61Q |
probably benign |
Het |
| Fam76b |
G |
A |
9: 13,739,362 (GRCm39) |
|
probably null |
Het |
| Fbxo45 |
A |
T |
16: 32,052,048 (GRCm39) |
D238E |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,400,779 (GRCm39) |
T314I |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,823,124 (GRCm39) |
S6286P |
possibly damaging |
Het |
| Gbf1 |
T |
C |
19: 46,260,003 (GRCm39) |
F999L |
probably damaging |
Het |
| Gnao1 |
C |
A |
8: 94,670,827 (GRCm39) |
T102K |
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 187,054,498 (GRCm39) |
D76E |
probably damaging |
Het |
| Gpd1l |
A |
G |
9: 114,743,462 (GRCm39) |
I146T |
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,232,005 (GRCm39) |
H508Q |
probably damaging |
Het |
| Hapstr1 |
A |
G |
16: 8,648,445 (GRCm39) |
E41G |
possibly damaging |
Het |
| Hk3 |
A |
T |
13: 55,162,268 (GRCm39) |
F112Y |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,279,341 (GRCm39) |
I1781S |
probably damaging |
Het |
| Inhba |
A |
T |
13: 16,201,221 (GRCm39) |
K261M |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,327,343 (GRCm39) |
Q44L |
probably damaging |
Het |
| Kcns1 |
G |
T |
2: 164,010,455 (GRCm39) |
F101L |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,541,611 (GRCm39) |
|
probably null |
Het |
| Klhl14 |
C |
T |
18: 21,687,730 (GRCm39) |
G564D |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,305,658 (GRCm39) |
V2E |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,801,572 (GRCm39) |
E61G |
probably damaging |
Het |
| Krt1 |
T |
C |
15: 101,757,427 (GRCm39) |
D261G |
probably benign |
Het |
| Lama5 |
C |
A |
2: 179,830,145 (GRCm39) |
C1896F |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,513,175 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
A |
G |
16: 32,734,755 (GRCm39) |
T82A |
possibly damaging |
Het |
| Maml3 |
C |
G |
3: 52,011,560 (GRCm39) |
G2A |
unknown |
Het |
| Mapkap1 |
T |
A |
2: 34,408,691 (GRCm39) |
N34K |
probably damaging |
Het |
| Muc13 |
A |
T |
16: 33,634,909 (GRCm39) |
I488F |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,357,113 (GRCm39) |
D1129G |
possibly damaging |
Het |
| Nacc1 |
A |
T |
8: 85,403,010 (GRCm39) |
N288K |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,302,390 (GRCm39) |
S319R |
possibly damaging |
Het |
| Nle1 |
C |
T |
11: 82,792,614 (GRCm39) |
G432D |
probably damaging |
Het |
| Nol4l |
A |
G |
2: 153,371,375 (GRCm39) |
V103A |
probably benign |
Het |
| Oca2 |
A |
G |
7: 56,064,215 (GRCm39) |
I737V |
probably damaging |
Het |
| Or12k5 |
A |
T |
2: 36,894,960 (GRCm39) |
F222Y |
possibly damaging |
Het |
| Or1j17 |
G |
A |
2: 36,578,796 (GRCm39) |
V261I |
probably benign |
Het |
| Or4b1 |
T |
C |
2: 89,979,748 (GRCm39) |
S201G |
probably damaging |
Het |
| Or51l4 |
G |
T |
7: 103,404,375 (GRCm39) |
T139K |
probably damaging |
Het |
| Or52ac1 |
A |
G |
7: 104,246,008 (GRCm39) |
C127R |
probably damaging |
Het |
| Or6k6 |
G |
T |
1: 173,944,817 (GRCm39) |
S255* |
probably null |
Het |
| Or6s1 |
T |
A |
14: 51,308,614 (GRCm39) |
I79F |
probably damaging |
Het |
| Orc1 |
T |
A |
4: 108,469,414 (GRCm39) |
I746N |
probably damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,352,795 (GRCm39) |
D147G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plin5 |
T |
A |
17: 56,419,186 (GRCm39) |
D412V |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,008 (GRCm39) |
Y314F |
possibly damaging |
Het |
| Ppid |
A |
T |
3: 79,509,606 (GRCm39) |
K308* |
probably null |
Het |
| Prss38 |
T |
C |
11: 59,264,310 (GRCm39) |
Y219C |
probably damaging |
Het |
| Ptx3 |
C |
T |
3: 66,132,042 (GRCm39) |
R188C |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,435,887 (GRCm39) |
V504E |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,701,330 (GRCm39) |
Y1237H |
probably damaging |
Het |
| Rpp30 |
C |
T |
19: 36,066,549 (GRCm39) |
S94L |
probably damaging |
Het |
| Rrp15 |
C |
T |
1: 186,468,402 (GRCm39) |
V205I |
possibly damaging |
Het |
| Scpep1 |
A |
G |
11: 88,843,240 (GRCm39) |
W73R |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,357,077 (GRCm39) |
H376R |
probably damaging |
Het |
| Serping1 |
G |
T |
2: 84,596,072 (GRCm39) |
T454K |
probably damaging |
Het |
| Shtn1 |
T |
G |
19: 58,963,470 (GRCm39) |
Y615S |
probably benign |
Het |
| Slc20a2 |
C |
A |
8: 23,035,553 (GRCm39) |
P184T |
probably damaging |
Het |
| Slc22a29 |
C |
A |
19: 8,195,772 (GRCm39) |
R89L |
probably damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,773,634 (GRCm39) |
Q313R |
probably damaging |
Het |
| Tas2r122 |
A |
T |
6: 132,688,157 (GRCm39) |
Y245* |
probably null |
Het |
| Ticrr |
C |
A |
7: 79,344,483 (GRCm39) |
C1449* |
probably null |
Het |
| Tmem181a |
T |
C |
17: 6,353,501 (GRCm39) |
V412A |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,165,011 (GRCm39) |
E616V |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,764,640 (GRCm39) |
K714R |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,260,470 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
T |
C |
17: 47,265,845 (GRCm39) |
T1163A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,178,555 (GRCm39) |
|
probably null |
Het |
| Ulk2 |
A |
T |
11: 61,710,297 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
T |
A |
9: 121,086,182 (GRCm39) |
M350L |
probably benign |
Het |
| Vmn1r185 |
T |
C |
7: 26,310,956 (GRCm39) |
E183G |
probably benign |
Het |
| Vmn1r76 |
T |
A |
7: 11,664,441 (GRCm39) |
I223F |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,154,861 (GRCm39) |
T19A |
possibly damaging |
Het |
| Wdr59 |
T |
G |
8: 112,177,535 (GRCm39) |
T973P |
possibly damaging |
Het |
| Wnk2 |
A |
G |
13: 49,192,487 (GRCm39) |
S664P |
probably damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,033,827 (GRCm39) |
D49E |
probably benign |
Het |
| Zfp120 |
A |
T |
2: 149,959,318 (GRCm39) |
C335S |
probably damaging |
Het |
| Zfp30 |
C |
A |
7: 29,491,877 (GRCm39) |
Q44K |
probably benign |
Het |
| Zfp541 |
T |
C |
7: 15,812,996 (GRCm39) |
S550P |
probably benign |
Het |
| Zw10 |
C |
A |
9: 48,980,133 (GRCm39) |
N421K |
probably damaging |
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 |
|
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 |
|
|
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'- CATTTCCGTTGTCAGTTGGC -3'
(R):5'- TTCTGTCATAGCCAAACAATCAATC -3'
Sequencing Primer
(F):5'- CAGTTGGCTTGAATACCTACTAGTG -3'
(R):5'- CGACATCGGGTATCTGAGTGAGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation