Incidental Mutation 'R7237:Kif20b'
ID |
562936 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif20b
|
Ensembl Gene |
ENSMUSG00000024795 |
Gene Name |
kinesin family member 20B |
Synonyms |
C330014J10Rik, magoo, Kif20b, N-6 kinesin, Mphosph1, 33cex |
MMRRC Submission |
045344-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R7237 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34928005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 1089
(L1089H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000223937]
|
AlphaFold |
Q80WE4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087341
AA Change: L1089H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084599 Gene: ENSMUSG00000024795 AA Change: L1089H
Domain | Start | End | E-Value | Type |
Blast:KISc
|
2 |
46 |
5e-15 |
BLAST |
KISc
|
56 |
483 |
1.19e-103 |
SMART |
low complexity region
|
521 |
551 |
N/A |
INTRINSIC |
coiled coil region
|
565 |
602 |
N/A |
INTRINSIC |
coiled coil region
|
705 |
746 |
N/A |
INTRINSIC |
coiled coil region
|
823 |
947 |
N/A |
INTRINSIC |
coiled coil region
|
1020 |
1325 |
N/A |
INTRINSIC |
coiled coil region
|
1348 |
1510 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223907
AA Change: L1049H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223937
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
Meta Mutation Damage Score |
0.1089 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (83/85) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap21 |
A |
T |
2: 20,854,783 (GRCm39) |
C1536* |
probably null |
Het |
Armc9 |
C |
A |
1: 86,092,571 (GRCm39) |
Q169K |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,405,667 (GRCm39) |
M1518K |
possibly damaging |
Het |
AU018091 |
A |
G |
7: 3,209,006 (GRCm39) |
I360T |
probably benign |
Het |
BB014433 |
C |
A |
8: 15,091,765 (GRCm39) |
V363L |
probably benign |
Het |
Bcam |
T |
C |
7: 19,503,232 (GRCm39) |
|
probably null |
Het |
Cacna1g |
T |
C |
11: 94,328,705 (GRCm39) |
S1071G |
probably benign |
Het |
Card9 |
A |
T |
2: 26,246,787 (GRCm39) |
S354T |
probably benign |
Het |
Ccdc87 |
A |
G |
19: 4,889,790 (GRCm39) |
N94S |
probably benign |
Het |
Cdc27 |
A |
G |
11: 104,408,245 (GRCm39) |
V555A |
probably benign |
Het |
Coro1a |
T |
A |
7: 126,299,478 (GRCm39) |
D411V |
probably benign |
Het |
Cybrd1 |
GGTCCTGCAC |
G |
2: 70,948,553 (GRCm39) |
|
probably benign |
Het |
Cyth1 |
A |
T |
11: 118,076,321 (GRCm39) |
I95N |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,179,126 (GRCm39) |
E933V |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 6,993,966 (GRCm39) |
I3968N |
probably benign |
Het |
Fam184a |
T |
C |
10: 53,510,489 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 16,288,510 (GRCm39) |
L338F |
probably damaging |
Het |
Fcgr3 |
A |
G |
1: 170,886,870 (GRCm39) |
L18P |
probably damaging |
Het |
Gbp5 |
T |
C |
3: 142,213,461 (GRCm39) |
V459A |
probably benign |
Het |
Gja4 |
A |
T |
4: 127,205,956 (GRCm39) |
M269K |
probably benign |
Het |
Gm4787 |
A |
G |
12: 81,424,442 (GRCm39) |
V572A |
probably damaging |
Het |
Grin2d |
G |
T |
7: 45,515,600 (GRCm39) |
S131* |
probably null |
Het |
Gys1 |
A |
G |
7: 45,104,586 (GRCm39) |
D671G |
probably benign |
Het |
Haspin |
T |
C |
11: 73,027,712 (GRCm39) |
N459S |
probably benign |
Het |
Hdac10 |
G |
T |
15: 89,009,580 (GRCm39) |
Q451K |
probably benign |
Het |
Hdac9 |
T |
C |
12: 34,424,139 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
G |
1: 150,598,394 (GRCm39) |
V1636A |
probably damaging |
Het |
Hpca |
A |
G |
4: 129,012,407 (GRCm39) |
L43P |
probably damaging |
Het |
Hycc2 |
G |
A |
1: 58,569,107 (GRCm39) |
Q491* |
probably null |
Het |
Insm1 |
C |
A |
2: 146,064,448 (GRCm39) |
A88E |
possibly damaging |
Het |
Itga9 |
A |
G |
9: 118,465,670 (GRCm39) |
K175E |
probably benign |
Het |
Kif13a |
A |
G |
13: 46,962,632 (GRCm39) |
|
probably null |
Het |
Lamp5 |
A |
T |
2: 135,901,755 (GRCm39) |
H152L |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,303,528 (GRCm39) |
F76L |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,935,227 (GRCm39) |
D902G |
probably damaging |
Het |
Map10 |
C |
T |
8: 126,397,963 (GRCm39) |
P452L |
probably benign |
Het |
Mapk6 |
A |
G |
9: 75,304,895 (GRCm39) |
L174P |
probably damaging |
Het |
Meak7 |
C |
T |
8: 120,489,054 (GRCm39) |
G410S |
probably damaging |
Het |
Ndufa4 |
C |
T |
6: 11,906,018 (GRCm39) |
|
probably null |
Het |
Nedd4 |
A |
T |
9: 72,632,346 (GRCm39) |
E393D |
probably benign |
Het |
Nlrp4b |
G |
A |
7: 10,449,143 (GRCm39) |
V449I |
probably benign |
Het |
Nufip2 |
T |
A |
11: 77,583,596 (GRCm39) |
N503K |
probably benign |
Het |
Or10ac1 |
T |
C |
6: 42,515,581 (GRCm39) |
D125G |
probably damaging |
Het |
Or6y1 |
C |
T |
1: 174,276,905 (GRCm39) |
R239C |
probably benign |
Het |
P4ha1 |
A |
G |
10: 59,184,065 (GRCm39) |
T176A |
probably benign |
Het |
Palm3 |
A |
G |
8: 84,756,117 (GRCm39) |
K543R |
probably benign |
Het |
Parvg |
G |
A |
15: 84,225,557 (GRCm39) |
A302T |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,420,023 (GRCm39) |
D1227G |
possibly damaging |
Het |
Pdzd8 |
C |
T |
19: 59,333,571 (GRCm39) |
G150D |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,263,360 (GRCm39) |
|
probably null |
Het |
Pld5 |
T |
C |
1: 176,102,301 (GRCm39) |
Q47R |
possibly damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,997,206 (GRCm39) |
S329G |
possibly damaging |
Het |
Prss56 |
T |
C |
1: 87,112,637 (GRCm39) |
V144A |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,161,769 (GRCm39) |
Y245N |
possibly damaging |
Het |
Ptpn3 |
C |
T |
4: 57,239,625 (GRCm39) |
V302I |
probably damaging |
Het |
Ptprn2 |
A |
G |
12: 117,125,347 (GRCm39) |
H627R |
probably benign |
Het |
Rasgrp2 |
A |
T |
19: 6,454,838 (GRCm39) |
H226L |
possibly damaging |
Het |
Rbm20 |
C |
T |
19: 53,839,930 (GRCm39) |
T973M |
probably benign |
Het |
Rigi |
T |
A |
4: 40,205,938 (GRCm39) |
I885F |
probably benign |
Het |
Riok2 |
T |
A |
17: 17,598,045 (GRCm39) |
L44Q |
probably damaging |
Het |
Rusc1 |
G |
T |
3: 88,998,805 (GRCm39) |
Q326K |
possibly damaging |
Het |
Rxylt1 |
A |
T |
10: 121,917,523 (GRCm39) |
L330* |
probably null |
Het |
Sart3 |
A |
T |
5: 113,892,307 (GRCm39) |
H397Q |
possibly damaging |
Het |
Sec31b |
T |
A |
19: 44,506,147 (GRCm39) |
T920S |
probably damaging |
Het |
Serpinb13 |
A |
G |
1: 106,926,679 (GRCm39) |
E225G |
probably damaging |
Het |
Slc25a47 |
T |
C |
12: 108,821,386 (GRCm39) |
L165P |
probably damaging |
Het |
Slc2a10 |
G |
A |
2: 165,357,197 (GRCm39) |
V286I |
probably benign |
Het |
Slc39a13 |
G |
T |
2: 90,895,979 (GRCm39) |
T174N |
probably benign |
Het |
Slc7a13 |
T |
A |
4: 19,839,364 (GRCm39) |
N322K |
probably benign |
Het |
Stk38 |
T |
C |
17: 29,193,620 (GRCm39) |
T326A |
possibly damaging |
Het |
Sult1a1 |
T |
C |
7: 126,272,622 (GRCm39) |
M244V |
probably benign |
Het |
Tas2r144 |
C |
T |
6: 42,192,800 (GRCm39) |
T180I |
probably damaging |
Het |
Tbc1d12 |
T |
A |
19: 38,887,346 (GRCm39) |
M366K |
probably benign |
Het |
Terb1 |
T |
C |
8: 105,221,959 (GRCm39) |
I147V |
possibly damaging |
Het |
Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,901,170 (GRCm39) |
L995I |
possibly damaging |
Het |
Trim34b |
A |
G |
7: 103,978,794 (GRCm39) |
T14A |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,588,054 (GRCm39) |
E418G |
probably damaging |
Het |
Vmn1r12 |
T |
A |
6: 57,136,550 (GRCm39) |
C216S |
possibly damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,924,249 (GRCm39) |
V16E |
possibly damaging |
Het |
Vps11 |
A |
T |
9: 44,265,803 (GRCm39) |
V492D |
probably damaging |
Het |
Wdr62 |
A |
C |
7: 29,969,869 (GRCm39) |
|
probably null |
Het |
Zc3h14 |
T |
A |
12: 98,746,408 (GRCm39) |
M539K |
probably benign |
Het |
Zfp871 |
A |
T |
17: 32,994,289 (GRCm39) |
H295Q |
probably damaging |
Het |
|
Other mutations in Kif20b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00513:Kif20b
|
APN |
19 |
34,925,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01021:Kif20b
|
APN |
19 |
34,915,660 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01590:Kif20b
|
APN |
19 |
34,932,126 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01691:Kif20b
|
APN |
19 |
34,913,143 (GRCm39) |
splice site |
probably benign |
|
IGL01730:Kif20b
|
APN |
19 |
34,927,923 (GRCm39) |
nonsense |
probably null |
|
IGL02078:Kif20b
|
APN |
19 |
34,913,044 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02174:Kif20b
|
APN |
19 |
34,911,858 (GRCm39) |
splice site |
probably benign |
|
IGL02536:Kif20b
|
APN |
19 |
34,951,959 (GRCm39) |
missense |
probably benign |
0.42 |
IGL03029:Kif20b
|
APN |
19 |
34,928,313 (GRCm39) |
missense |
probably benign |
|
IGL03186:Kif20b
|
APN |
19 |
34,912,344 (GRCm39) |
missense |
probably benign |
0.45 |
IGL03205:Kif20b
|
APN |
19 |
34,936,863 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03493:Kif20b
|
APN |
19 |
34,936,950 (GRCm39) |
nonsense |
probably null |
|
R0319:Kif20b
|
UTSW |
19 |
34,925,132 (GRCm39) |
splice site |
probably benign |
|
R1069:Kif20b
|
UTSW |
19 |
34,928,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R1137:Kif20b
|
UTSW |
19 |
34,914,486 (GRCm39) |
critical splice donor site |
probably null |
|
R1255:Kif20b
|
UTSW |
19 |
34,927,506 (GRCm39) |
missense |
probably benign |
0.08 |
R1352:Kif20b
|
UTSW |
19 |
34,902,035 (GRCm39) |
missense |
probably benign |
|
R1466:Kif20b
|
UTSW |
19 |
34,927,999 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Kif20b
|
UTSW |
19 |
34,927,999 (GRCm39) |
missense |
probably benign |
0.00 |
R1473:Kif20b
|
UTSW |
19 |
34,951,896 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1545:Kif20b
|
UTSW |
19 |
34,906,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1647:Kif20b
|
UTSW |
19 |
34,914,190 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1648:Kif20b
|
UTSW |
19 |
34,914,190 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1752:Kif20b
|
UTSW |
19 |
34,915,736 (GRCm39) |
missense |
probably benign |
0.13 |
R1835:Kif20b
|
UTSW |
19 |
34,933,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Kif20b
|
UTSW |
19 |
34,918,608 (GRCm39) |
unclassified |
probably benign |
|
R1937:Kif20b
|
UTSW |
19 |
34,930,278 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2112:Kif20b
|
UTSW |
19 |
34,909,132 (GRCm39) |
missense |
probably benign |
0.04 |
R2315:Kif20b
|
UTSW |
19 |
34,908,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2385:Kif20b
|
UTSW |
19 |
34,936,819 (GRCm39) |
missense |
probably damaging |
0.98 |
R2867:Kif20b
|
UTSW |
19 |
34,917,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R2867:Kif20b
|
UTSW |
19 |
34,917,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R3086:Kif20b
|
UTSW |
19 |
34,907,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R3116:Kif20b
|
UTSW |
19 |
34,947,480 (GRCm39) |
missense |
probably benign |
0.38 |
R3407:Kif20b
|
UTSW |
19 |
34,927,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R3834:Kif20b
|
UTSW |
19 |
34,912,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R3882:Kif20b
|
UTSW |
19 |
34,927,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R4698:Kif20b
|
UTSW |
19 |
34,928,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R4721:Kif20b
|
UTSW |
19 |
34,915,773 (GRCm39) |
missense |
probably benign |
0.41 |
R4883:Kif20b
|
UTSW |
19 |
34,943,522 (GRCm39) |
missense |
probably benign |
0.00 |
R4901:Kif20b
|
UTSW |
19 |
34,911,836 (GRCm39) |
missense |
probably benign |
0.00 |
R4923:Kif20b
|
UTSW |
19 |
34,918,611 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5538:Kif20b
|
UTSW |
19 |
34,930,364 (GRCm39) |
nonsense |
probably null |
|
R5540:Kif20b
|
UTSW |
19 |
34,915,860 (GRCm39) |
missense |
probably benign |
0.01 |
R5558:Kif20b
|
UTSW |
19 |
34,928,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Kif20b
|
UTSW |
19 |
34,927,128 (GRCm39) |
splice site |
probably null |
|
R5934:Kif20b
|
UTSW |
19 |
34,918,721 (GRCm39) |
missense |
probably benign |
0.02 |
R6019:Kif20b
|
UTSW |
19 |
34,927,864 (GRCm39) |
missense |
probably benign |
0.00 |
R6464:Kif20b
|
UTSW |
19 |
34,911,841 (GRCm39) |
missense |
probably benign |
|
R6613:Kif20b
|
UTSW |
19 |
34,914,384 (GRCm39) |
nonsense |
probably null |
|
R6745:Kif20b
|
UTSW |
19 |
34,906,276 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7097:Kif20b
|
UTSW |
19 |
34,951,892 (GRCm39) |
missense |
probably damaging |
0.98 |
R7260:Kif20b
|
UTSW |
19 |
34,927,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7373:Kif20b
|
UTSW |
19 |
34,913,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R7418:Kif20b
|
UTSW |
19 |
34,907,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R7814:Kif20b
|
UTSW |
19 |
34,928,355 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7861:Kif20b
|
UTSW |
19 |
34,917,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R8017:Kif20b
|
UTSW |
19 |
34,917,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R8696:Kif20b
|
UTSW |
19 |
34,914,752 (GRCm39) |
missense |
probably benign |
0.02 |
R8724:Kif20b
|
UTSW |
19 |
34,916,146 (GRCm39) |
unclassified |
probably benign |
|
R8849:Kif20b
|
UTSW |
19 |
34,915,716 (GRCm39) |
nonsense |
probably null |
|
R8947:Kif20b
|
UTSW |
19 |
34,918,629 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8998:Kif20b
|
UTSW |
19 |
34,914,253 (GRCm39) |
splice site |
probably benign |
|
R9017:Kif20b
|
UTSW |
19 |
34,927,203 (GRCm39) |
missense |
probably benign |
0.00 |
R9245:Kif20b
|
UTSW |
19 |
34,915,725 (GRCm39) |
missense |
probably benign |
0.02 |
R9613:Kif20b
|
UTSW |
19 |
34,919,934 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9619:Kif20b
|
UTSW |
19 |
34,933,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R9732:Kif20b
|
UTSW |
19 |
34,930,353 (GRCm39) |
missense |
probably benign |
0.18 |
R9746:Kif20b
|
UTSW |
19 |
34,928,149 (GRCm39) |
nonsense |
probably null |
|
Z1088:Kif20b
|
UTSW |
19 |
34,927,851 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Kif20b
|
UTSW |
19 |
34,930,275 (GRCm39) |
missense |
probably benign |
0.11 |
Z1177:Kif20b
|
UTSW |
19 |
34,927,866 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGATTGTGAAGGCTTCCTCC -3'
(R):5'- CCAGTTTTAAGATGGCAGATTCC -3'
Sequencing Primer
(F):5'- GTCTCATCAGATTCAGGGACTAG -3'
(R):5'- GGCAGATTCCTTCTCTAAAATGC -3'
|
Posted On |
2019-06-26 |