Incidental Mutation 'R5538:Kif20b'
| ID |
434961 |
| 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 |
043096-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R5538 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 34930364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 25
(K25*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000223937]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087341
AA Change: K1290*
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: K1290*
| 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 null
Transcript: ENSMUST00000223907
AA Change: K1250*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223937
AA Change: K25*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
94% (73/78) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
A |
13: 81,581,808 (GRCm39) |
R4745S |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,823,257 (GRCm39) |
E642G |
probably damaging |
Het |
| Arhgap11a |
G |
T |
2: 113,667,875 (GRCm39) |
D375E |
probably benign |
Het |
| Arl8b |
C |
A |
6: 108,760,297 (GRCm39) |
L28M |
probably damaging |
Het |
| Bbs2 |
G |
A |
8: 94,816,391 (GRCm39) |
T157M |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,104,700 (GRCm39) |
|
probably null |
Het |
| C6 |
T |
A |
15: 4,844,311 (GRCm39) |
I911N |
possibly damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,852,518 (GRCm39) |
I365T |
possibly damaging |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Ceacam3 |
A |
T |
7: 16,892,346 (GRCm39) |
D363V |
probably damaging |
Het |
| Cep63 |
A |
T |
9: 102,465,992 (GRCm39) |
L678* |
probably null |
Het |
| Clasrp |
A |
C |
7: 19,318,707 (GRCm39) |
|
probably benign |
Het |
| Clk2 |
T |
A |
3: 89,082,962 (GRCm39) |
Y412N |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 144,998,882 (GRCm39) |
A5V |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,531,703 (GRCm39) |
N13D |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,324,946 (GRCm39) |
M437K |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,416,923 (GRCm39) |
F819L |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,671,906 (GRCm39) |
T85A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,096 (GRCm39) |
K80* |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,168,630 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,312,727 (GRCm39) |
V218A |
possibly damaging |
Het |
| Fbn2 |
G |
A |
18: 58,204,973 (GRCm39) |
R1157C |
probably benign |
Het |
| Fez1 |
T |
A |
9: 36,780,172 (GRCm39) |
I323N |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,501,198 (GRCm39) |
T199S |
probably benign |
Het |
| Fry |
T |
A |
5: 150,419,313 (GRCm39) |
L915Q |
probably damaging |
Het |
| Gatd1 |
A |
G |
7: 140,986,758 (GRCm39) |
|
probably benign |
Het |
| Gm10719 |
T |
C |
9: 3,018,962 (GRCm39) |
L69S |
probably benign |
Het |
| Gnpda2 |
A |
T |
5: 69,735,394 (GRCm39) |
H230Q |
probably damaging |
Het |
| Gramd1c |
T |
A |
16: 43,802,455 (GRCm39) |
N652I |
probably damaging |
Het |
| H2-T13 |
T |
A |
17: 36,392,178 (GRCm39) |
H178L |
probably benign |
Het |
| Hells |
T |
A |
19: 38,942,096 (GRCm39) |
F462Y |
probably benign |
Het |
| Htr7 |
A |
G |
19: 35,947,235 (GRCm39) |
F260L |
probably benign |
Het |
| Itsn1 |
C |
A |
16: 91,580,990 (GRCm39) |
A23D |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
| Kctd16 |
T |
A |
18: 40,390,319 (GRCm39) |
Y97* |
probably null |
Het |
| Klf2 |
T |
C |
8: 73,073,316 (GRCm39) |
L40P |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,731,639 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lonrf1 |
T |
A |
8: 36,690,178 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 40,587,486 (GRCm39) |
I154K |
unknown |
Het |
| Mybpc1 |
T |
A |
10: 88,381,891 (GRCm39) |
I600L |
possibly damaging |
Het |
| Npnt |
T |
C |
3: 132,610,724 (GRCm39) |
N285S |
probably damaging |
Het |
| Or4c12b |
T |
A |
2: 89,646,964 (GRCm39) |
F92Y |
probably damaging |
Het |
| Or51h5 |
A |
G |
7: 102,577,728 (GRCm39) |
T298A |
probably damaging |
Het |
| Or6c69 |
T |
A |
10: 129,747,871 (GRCm39) |
Y92F |
probably benign |
Het |
| Or6n1 |
T |
C |
1: 173,917,544 (GRCm39) |
*313R |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,907,183 (GRCm39) |
V13A |
probably damaging |
Het |
| Phkb |
G |
A |
8: 86,648,756 (GRCm39) |
V191I |
possibly damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,581,508 (GRCm39) |
M594V |
probably benign |
Het |
| Potefam3e |
A |
C |
8: 19,799,430 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,469,333 (GRCm39) |
E146G |
probably damaging |
Het |
| Ror1 |
T |
C |
4: 100,298,208 (GRCm39) |
M527T |
probably benign |
Het |
| Scnm1 |
A |
G |
3: 95,037,066 (GRCm39) |
|
probably benign |
Het |
| Skint11 |
A |
T |
4: 114,088,959 (GRCm39) |
N251I |
probably damaging |
Het |
| Slc19a3 |
T |
A |
1: 83,000,282 (GRCm39) |
N245I |
possibly damaging |
Het |
| Slc1a3 |
A |
T |
15: 8,675,188 (GRCm39) |
D272E |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,454,440 (GRCm39) |
V200D |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,429,112 (GRCm39) |
Y417H |
probably damaging |
Het |
| Stk11ip |
C |
A |
1: 75,504,979 (GRCm39) |
S388R |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,049,282 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
A |
G |
7: 90,038,114 (GRCm39) |
I525V |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,343,390 (GRCm39) |
N158D |
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,416,418 (GRCm39) |
L180P |
probably damaging |
Het |
| Txlnb |
T |
C |
10: 17,714,657 (GRCm39) |
L363P |
probably damaging |
Het |
| Upk3b |
C |
G |
5: 136,072,890 (GRCm39) |
A258G |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,908,612 (GRCm39) |
D1031E |
possibly damaging |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,041 (GRCm39) |
L592F |
probably benign |
Het |
| Zfp607b |
A |
G |
7: 27,402,294 (GRCm39) |
H250R |
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 |
|
|
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'- GACATATTCCCTGAAGACATGACTTC -3'
(R):5'- ATCTGGACTATCATAACACTCTCTC -3'
Sequencing Primer
(F):5'- GTAGGTATCTGTAATGCGTGA -3'
(R):5'- GAATTTGCCATGAGGTCAATGCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation