Incidental Mutation 'R8696:Kif20b'
| ID |
668744 |
| 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 |
068550-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R8696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34914752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 436
(H436R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000225408]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087341
AA Change: H436R
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: H436R
| 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
AA Change: H436R
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225408
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,687,235 (GRCm39) |
N423S |
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,248,344 (GRCm39) |
L672P |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,067 (GRCm39) |
T182I |
possibly damaging |
Het |
| Ankrd33 |
A |
G |
15: 101,014,864 (GRCm39) |
I84V |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,159,799 (GRCm39) |
Y272C |
possibly damaging |
Het |
| Arid4a |
T |
C |
12: 71,110,090 (GRCm39) |
S144P |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,415,285 (GRCm39) |
D666G |
probably damaging |
Het |
| Blk |
A |
T |
14: 63,618,149 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
C |
T |
10: 80,480,515 (GRCm39) |
R366Q |
possibly damaging |
Het |
| Cacna1i |
T |
C |
15: 80,266,175 (GRCm39) |
V1554A |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,614 (GRCm39) |
L428P |
probably damaging |
Het |
| Ccdc30 |
T |
G |
4: 119,234,505 (GRCm39) |
Y69S |
possibly damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
| Cdk11b |
T |
C |
4: 155,732,779 (GRCm39) |
V539A |
unknown |
Het |
| Ceacam3 |
A |
T |
7: 16,893,937 (GRCm39) |
N483Y |
|
Het |
| Cenpf |
C |
T |
1: 189,390,194 (GRCm39) |
A1213T |
probably benign |
Het |
| Chrna6 |
G |
T |
8: 27,897,195 (GRCm39) |
Y227* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,601,294 (GRCm39) |
D814V |
probably damaging |
Het |
| Csl |
A |
T |
10: 99,594,826 (GRCm39) |
Y80N |
probably damaging |
Het |
| Ctsm |
A |
G |
13: 61,685,521 (GRCm39) |
L297P |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,623,958 (GRCm39) |
V31A |
unknown |
Het |
| Dis3l2 |
G |
T |
1: 86,719,162 (GRCm39) |
G131* |
probably null |
Het |
| Dkk1 |
G |
A |
19: 30,526,688 (GRCm39) |
A31V |
probably damaging |
Het |
| Dlx3 |
C |
T |
11: 95,012,596 (GRCm39) |
R130* |
probably null |
Het |
| Dnajc24 |
T |
C |
2: 105,832,315 (GRCm39) |
M23V |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,862,662 (GRCm39) |
N76I |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,100,305 (GRCm39) |
N226S |
probably benign |
Het |
| Fabp9 |
C |
T |
3: 10,259,047 (GRCm39) |
V120M |
possibly damaging |
Het |
| Fcrlb |
A |
G |
1: 170,739,648 (GRCm39) |
C85R |
probably damaging |
Het |
| Gnai2 |
A |
C |
9: 107,496,968 (GRCm39) |
L131R |
|
Het |
| Gprin1 |
A |
G |
13: 54,885,764 (GRCm39) |
W837R |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,562,311 (GRCm39) |
C513Y |
probably damaging |
Het |
| H60c |
T |
A |
10: 3,210,265 (GRCm39) |
I95F |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,531,743 (GRCm39) |
V177A |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,624,134 (GRCm39) |
C635S |
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,112,125 (GRCm39) |
M347L |
probably benign |
Het |
| Klrg2 |
G |
T |
6: 38,613,430 (GRCm39) |
P191Q |
possibly damaging |
Het |
| Krt5 |
A |
G |
15: 101,618,742 (GRCm39) |
Y340H |
probably damaging |
Het |
| Map9 |
T |
A |
3: 82,270,668 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,356,557 (GRCm39) |
T221A |
probably benign |
Het |
| Myo10 |
C |
G |
15: 25,799,572 (GRCm39) |
H1378Q |
probably damaging |
Het |
| Nkx6-1 |
T |
C |
5: 101,807,513 (GRCm39) |
T290A |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Notch1 |
T |
A |
2: 26,368,004 (GRCm39) |
|
probably benign |
Het |
| Nr1d2 |
A |
T |
14: 18,216,661 (GRCm38) |
M169K |
probably damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,774,635 (GRCm39) |
V10I |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,420 (GRCm39) |
M140V |
possibly damaging |
Het |
| Or13c7c |
A |
G |
4: 43,836,193 (GRCm39) |
V99A |
probably benign |
Het |
| Or6c69b |
A |
T |
10: 129,626,562 (GRCm39) |
F299I |
possibly damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,433 (GRCm39) |
M1V |
probably null |
Het |
| Pdia6 |
T |
A |
12: 17,329,662 (GRCm39) |
I266K |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,091,105 (GRCm39) |
|
probably null |
Het |
| Polr1b |
T |
A |
2: 128,967,571 (GRCm39) |
L988Q |
probably damaging |
Het |
| Por |
A |
T |
5: 135,763,112 (GRCm39) |
M541L |
probably benign |
Het |
| Ppid |
T |
C |
3: 79,498,689 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
A |
T |
6: 132,577,322 (GRCm39) |
Q203L |
unknown |
Het |
| Psme4 |
T |
G |
11: 30,759,896 (GRCm39) |
F340V |
probably damaging |
Het |
| Ptges2 |
T |
C |
2: 32,290,077 (GRCm39) |
S164P |
probably damaging |
Het |
| Rab18 |
G |
A |
18: 6,788,635 (GRCm39) |
G201S |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,265,132 (GRCm39) |
E391G |
probably damaging |
Het |
| Rcbtb2 |
T |
G |
14: 73,404,305 (GRCm39) |
V259G |
probably damaging |
Het |
| Rpn1 |
C |
A |
6: 88,080,359 (GRCm39) |
Q553K |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,609,459 (GRCm39) |
S697P |
probably damaging |
Het |
| Sdad1 |
T |
G |
5: 92,437,645 (GRCm39) |
H603P |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,520,544 (GRCm39) |
L47P |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,248,686 (GRCm39) |
S646T |
possibly damaging |
Het |
| Spdye4a |
T |
A |
5: 143,210,754 (GRCm39) |
E105D |
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,231,181 (GRCm39) |
C230Y |
possibly damaging |
Het |
| Stard9 |
A |
T |
2: 120,531,595 (GRCm39) |
R2617S |
probably benign |
Het |
| Tas2r118 |
G |
T |
6: 23,969,344 (GRCm39) |
T239K |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,084,094 (GRCm39) |
L161P |
probably benign |
Het |
| Ttc21a |
T |
G |
9: 119,772,977 (GRCm39) |
V218G |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,784,492 (GRCm39) |
S1854P |
probably benign |
Het |
| Unc93a |
A |
G |
17: 13,341,852 (GRCm39) |
L93P |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,839,217 (GRCm39) |
I2109N |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,723,419 (GRCm39) |
S287C |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,847,321 (GRCm39) |
F55S |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,518 (GRCm39) |
T109A |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,599 (GRCm39) |
Y160H |
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 |
|
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 |
|
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'- GGAAACCCGTTTCTTACACAAC -3'
(R):5'- TCTGCTCTTCCAAGGCAAG -3'
Sequencing Primer
(F):5'- CGTTTCTTACACAACCACATGTAG -3'
(R):5'- GCTCTTCCAAGGCAAGCAGTTAATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation