Incidental Mutation 'R0319:Kif20b'
| ID |
25592 |
| 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 |
038529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R0319 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 34925132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
|
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
C |
7: 127,836,362 (GRCm39) |
V77G |
probably benign |
Het |
| Abcb1b |
A |
G |
5: 8,877,428 (GRCm39) |
R663G |
probably benign |
Het |
| Acly |
A |
G |
11: 100,395,808 (GRCm39) |
V404A |
probably damaging |
Het |
| Actg2 |
T |
A |
6: 83,497,725 (GRCm39) |
I103F |
probably damaging |
Het |
| Anapc5 |
A |
G |
5: 122,956,919 (GRCm39) |
V120A |
probably damaging |
Het |
| Ankk1 |
T |
G |
9: 49,327,371 (GRCm39) |
T603P |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,215,898 (GRCm39) |
S33P |
possibly damaging |
Het |
| Arhgef19 |
A |
T |
4: 140,983,710 (GRCm39) |
T748S |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,011,616 (GRCm39) |
|
probably benign |
Het |
| Atxn10 |
T |
C |
15: 85,249,483 (GRCm39) |
L105P |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 135,998,455 (GRCm39) |
V161A |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,735,426 (GRCm39) |
E741G |
possibly damaging |
Het |
| Cpne9 |
G |
A |
6: 113,271,654 (GRCm39) |
G338E |
probably damaging |
Het |
| Cyp3a13 |
G |
A |
5: 137,897,124 (GRCm39) |
P397S |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Draxin |
A |
G |
4: 148,200,429 (GRCm39) |
L7P |
probably benign |
Het |
| Exosc7 |
T |
A |
9: 122,960,025 (GRCm39) |
|
probably benign |
Het |
| Far2 |
A |
G |
6: 148,058,968 (GRCm39) |
E218G |
probably damaging |
Het |
| Ggps1 |
A |
C |
13: 14,228,462 (GRCm39) |
N240K |
possibly damaging |
Het |
| Kcnip1 |
T |
C |
11: 33,601,529 (GRCm39) |
|
probably benign |
Het |
| Kcnv2 |
A |
T |
19: 27,301,424 (GRCm39) |
Y425F |
probably benign |
Het |
| Kdelr2 |
T |
A |
5: 143,398,272 (GRCm39) |
F40I |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,207,195 (GRCm39) |
P173L |
probably benign |
Het |
| Klhl9 |
A |
T |
4: 88,638,691 (GRCm39) |
Y517N |
possibly damaging |
Het |
| Lgals3bp |
A |
G |
11: 118,284,347 (GRCm39) |
S411P |
probably damaging |
Het |
| Lmo3 |
G |
A |
6: 138,354,309 (GRCm39) |
T85M |
probably damaging |
Het |
| Lvrn |
C |
A |
18: 46,997,820 (GRCm39) |
T256N |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,595,986 (GRCm39) |
|
probably null |
Het |
| Mgst1 |
A |
G |
6: 138,133,155 (GRCm39) |
I157V |
possibly damaging |
Het |
| Mob3a |
A |
T |
10: 80,525,819 (GRCm39) |
V164E |
possibly damaging |
Het |
| Mprip |
T |
A |
11: 59,587,864 (GRCm39) |
|
probably benign |
Het |
| Mst1 |
A |
G |
9: 107,959,712 (GRCm39) |
N276S |
probably benign |
Het |
| Or5an1b |
A |
T |
19: 12,299,680 (GRCm39) |
C170* |
probably null |
Het |
| P3h2 |
T |
A |
16: 25,789,681 (GRCm39) |
I529F |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,490 (GRCm39) |
S865T |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,415,909 (GRCm39) |
R474Q |
probably benign |
Het |
| Rpl27 |
G |
A |
11: 101,334,321 (GRCm39) |
|
probably benign |
Het |
| Rtp1 |
G |
A |
16: 23,250,210 (GRCm39) |
E192K |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,837,592 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc49a4 |
T |
C |
16: 35,570,884 (GRCm39) |
D140G |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,714,347 (GRCm39) |
N114S |
possibly damaging |
Het |
| Syne2 |
C |
T |
12: 76,110,936 (GRCm39) |
R5756W |
probably damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,882,927 (GRCm39) |
E307G |
probably damaging |
Het |
| Tpd52 |
T |
C |
3: 9,018,749 (GRCm39) |
T44A |
probably benign |
Het |
| Trim67 |
A |
T |
8: 125,549,966 (GRCm39) |
Y532F |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,842,018 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,680,571 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,909,709 (GRCm39) |
I539M |
probably benign |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,600 (GRCm39) |
M51K |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,941 (GRCm39) |
M787K |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,213,096 (GRCm39) |
|
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,933,895 (GRCm39) |
V8E |
probably damaging |
Het |
| Zfp595 |
G |
A |
13: 67,464,577 (GRCm39) |
A562V |
possibly damaging |
Het |
| Zfp759 |
A |
G |
13: 67,288,356 (GRCm39) |
T636A |
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 |
|
|
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 |
|
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'- GGCACAGGGTGTTTTCAGAGTGAC -3'
(R):5'- CCTAGCACAGAATGAACGATGAGGC -3'
Sequencing Primer
(F):5'- AATGCTTTCTGCTGCCAAAGG -3'
(R):5'- CAGAGTGGTAAAAGCTCAGCATC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation