Incidental Mutation 'R1889:Kif20b'
ID |
209871 |
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 |
039910-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R1889 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 34918608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000225408]
|
AlphaFold |
Q80WE4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087341
|
SMART Domains |
Protein: ENSMUSP00000084599 Gene: ENSMUSG00000024795
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 benign
Transcript: ENSMUST00000223907
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225408
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.2%
- 10x: 93.6%
- 20x: 88.0%
|
Validation Efficiency |
97% (103/106) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
A |
G |
9: 89,034,815 (GRCm39) |
|
noncoding transcript |
Het |
9130008F23Rik |
T |
C |
17: 41,191,193 (GRCm39) |
R79G |
probably damaging |
Het |
Aco1 |
A |
T |
4: 40,164,607 (GRCm39) |
|
probably null |
Het |
Acp6 |
C |
T |
3: 97,073,201 (GRCm39) |
R81W |
probably damaging |
Het |
Agbl1 |
A |
C |
7: 76,239,129 (GRCm39) |
Y543S |
probably damaging |
Het |
Anapc7 |
T |
C |
5: 122,571,539 (GRCm39) |
W205R |
probably damaging |
Het |
Ap1g2 |
T |
A |
14: 55,338,886 (GRCm39) |
M532L |
probably damaging |
Het |
Appl1 |
A |
G |
14: 26,647,470 (GRCm39) |
|
probably benign |
Het |
Arhgef19 |
T |
C |
4: 140,976,624 (GRCm39) |
F462S |
probably damaging |
Het |
Astn1 |
A |
G |
1: 158,332,886 (GRCm39) |
|
probably null |
Het |
AU015836 |
T |
C |
X: 93,012,985 (GRCm39) |
|
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cadm2 |
T |
C |
16: 66,679,683 (GRCm39) |
D50G |
probably damaging |
Het |
Ccdc81 |
G |
A |
7: 89,531,502 (GRCm39) |
Q324* |
probably null |
Het |
Cd300lf |
A |
G |
11: 115,011,206 (GRCm39) |
V178A |
probably benign |
Het |
Cdt1 |
T |
C |
8: 123,298,791 (GRCm39) |
V476A |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,796,182 (GRCm39) |
V225A |
probably benign |
Het |
Cep295 |
T |
C |
9: 15,243,399 (GRCm39) |
T1686A |
possibly damaging |
Het |
Cfap54 |
A |
G |
10: 92,870,572 (GRCm39) |
S684P |
possibly damaging |
Het |
Clip1 |
C |
A |
5: 123,791,559 (GRCm39) |
V204F |
probably damaging |
Het |
Cnpy4 |
A |
G |
5: 138,191,102 (GRCm39) |
E226G |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,731,433 (GRCm39) |
M1000L |
probably benign |
Het |
Cpsf1 |
T |
C |
15: 76,486,356 (GRCm39) |
M335V |
probably benign |
Het |
Dnmt3b |
C |
A |
2: 153,518,679 (GRCm39) |
A614E |
probably benign |
Het |
Dpm1 |
C |
T |
2: 168,059,655 (GRCm39) |
R147Q |
possibly damaging |
Het |
Dpp7 |
G |
T |
2: 25,243,691 (GRCm39) |
|
probably null |
Het |
Engase |
T |
C |
11: 118,369,759 (GRCm39) |
F57S |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,476,902 (GRCm39) |
D718G |
possibly damaging |
Het |
Fam20a |
T |
C |
11: 109,564,380 (GRCm39) |
K458E |
probably benign |
Het |
Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
Gkn2 |
T |
A |
6: 87,355,137 (GRCm39) |
Y115* |
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,481,926 (GRCm39) |
S246P |
probably damaging |
Het |
H2-Q2 |
A |
G |
17: 35,564,152 (GRCm39) |
D302G |
probably benign |
Het |
Herc2 |
C |
T |
7: 55,839,561 (GRCm39) |
S3357L |
possibly damaging |
Het |
Herc6 |
T |
A |
6: 57,639,060 (GRCm39) |
Y840* |
probably null |
Het |
Hoxa10 |
GGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTG |
6: 52,211,472 (GRCm39) |
|
probably benign |
Het |
Ift122 |
T |
C |
6: 115,871,382 (GRCm39) |
|
probably null |
Het |
Ilf3 |
T |
A |
9: 21,316,063 (GRCm39) |
|
probably benign |
Het |
Itgb2 |
A |
T |
10: 77,384,457 (GRCm39) |
N193Y |
possibly damaging |
Het |
Itgb5 |
T |
G |
16: 33,730,839 (GRCm39) |
I65S |
probably damaging |
Het |
Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
Kcnt2 |
A |
T |
1: 140,512,031 (GRCm39) |
H995L |
probably damaging |
Het |
Kif7 |
T |
C |
7: 79,360,211 (GRCm39) |
Y342C |
probably damaging |
Het |
Klhl21 |
T |
C |
4: 152,099,877 (GRCm39) |
V529A |
possibly damaging |
Het |
Klhl26 |
T |
C |
8: 70,904,383 (GRCm39) |
D475G |
probably damaging |
Het |
Lcor |
T |
C |
19: 41,547,567 (GRCm39) |
Y384H |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,809,179 (GRCm39) |
C2463* |
probably null |
Het |
Marchf6 |
T |
C |
15: 31,459,339 (GRCm39) |
E909G |
possibly damaging |
Het |
Mrc1 |
A |
T |
2: 14,313,488 (GRCm39) |
|
probably null |
Het |
Mtrex |
T |
C |
13: 113,024,024 (GRCm39) |
N707S |
probably benign |
Het |
Nipal4 |
T |
A |
11: 46,041,560 (GRCm39) |
I212F |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,965,009 (GRCm39) |
E1531G |
possibly damaging |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
Opa1 |
T |
C |
16: 29,444,403 (GRCm39) |
V863A |
possibly damaging |
Het |
Or5ac22 |
T |
G |
16: 59,135,326 (GRCm39) |
Y148S |
probably damaging |
Het |
Pabpc4l |
A |
T |
3: 46,400,798 (GRCm39) |
M282K |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,722,684 (GRCm39) |
D1336G |
probably damaging |
Het |
Phlpp1 |
T |
C |
1: 106,246,580 (GRCm39) |
V590A |
possibly damaging |
Het |
Rbck1 |
T |
A |
2: 152,160,276 (GRCm39) |
T468S |
probably damaging |
Het |
Ripor2 |
T |
A |
13: 24,877,870 (GRCm39) |
I290N |
probably damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,346 (GRCm39) |
L457P |
probably damaging |
Het |
Rtn1 |
C |
A |
12: 72,351,184 (GRCm39) |
A342S |
possibly damaging |
Het |
Sema3d |
A |
G |
5: 12,534,988 (GRCm39) |
|
probably null |
Het |
Serpinb2 |
T |
A |
1: 107,452,337 (GRCm39) |
V305D |
probably damaging |
Het |
Sez6l2 |
T |
C |
7: 126,552,668 (GRCm39) |
V148A |
probably damaging |
Het |
Shank2 |
C |
A |
7: 143,740,595 (GRCm39) |
S568* |
probably null |
Het |
Slc10a4 |
T |
C |
5: 73,169,490 (GRCm39) |
S372P |
possibly damaging |
Het |
Slc10a5 |
T |
C |
3: 10,400,550 (GRCm39) |
T37A |
probably benign |
Het |
Slc14a1 |
T |
C |
18: 78,152,912 (GRCm39) |
I276V |
possibly damaging |
Het |
Slc6a20b |
G |
T |
9: 123,461,269 (GRCm39) |
D52E |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,601,182 (GRCm39) |
M661T |
probably benign |
Het |
Ssh2 |
C |
G |
11: 77,340,571 (GRCm39) |
D574E |
probably damaging |
Het |
Steap4 |
G |
T |
5: 8,025,892 (GRCm39) |
R151L |
probably damaging |
Het |
Sun5 |
T |
A |
2: 153,707,915 (GRCm39) |
I107L |
probably benign |
Het |
Tacc1 |
C |
T |
8: 25,665,269 (GRCm39) |
V488M |
probably damaging |
Het |
Tgs1 |
A |
G |
4: 3,614,928 (GRCm39) |
T829A |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,914,799 (GRCm39) |
E1929G |
probably damaging |
Het |
Tssc4 |
A |
C |
7: 142,624,292 (GRCm39) |
Q200P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,588,876 (GRCm39) |
W21398R |
probably damaging |
Het |
Usp50 |
C |
T |
2: 126,619,818 (GRCm39) |
|
probably null |
Het |
Usp9y |
A |
T |
Y: 1,448,829 (GRCm39) |
|
probably null |
Het |
V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
Zfat |
T |
C |
15: 67,973,388 (GRCm39) |
T1118A |
probably benign |
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 |
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 |
R7237:Kif20b
|
UTSW |
19 |
34,928,005 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CGTCCATATGAGATTGGAGGC -3'
(R):5'- GGTCACTACAGTTGCACAAATCC -3'
Sequencing Primer
(F):5'- TCCATATGAGATTGGAGGCATACTG -3'
(R):5'- TACTCACCAACAACAGCTTTTATG -3'
|
Posted On |
2014-06-30 |