Incidental Mutation 'R9245:Kif20b'
ID |
701269 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R9245 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34915725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 501
(S501P)
|
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: S501P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000084599 Gene: ENSMUSG00000024795 AA Change: S501P
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: S501P
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd15 |
C |
A |
11: 77,406,312 (GRCm39) |
H96Q |
possibly damaging |
Het |
Ankhd1 |
A |
G |
18: 36,788,653 (GRCm39) |
Q411R |
|
Het |
Ankrd34c |
A |
T |
9: 89,610,940 (GRCm39) |
V467E |
probably damaging |
Het |
Apobr |
A |
T |
7: 126,186,507 (GRCm39) |
R673* |
probably null |
Het |
Arhgap18 |
T |
C |
10: 26,722,107 (GRCm39) |
V98A |
possibly damaging |
Het |
Arhgap30 |
G |
T |
1: 171,235,957 (GRCm39) |
W777L |
possibly damaging |
Het |
Atp8a1 |
A |
G |
5: 67,779,977 (GRCm39) |
Y1154H |
unknown |
Het |
B3gntl1 |
A |
G |
11: 121,514,770 (GRCm39) |
F299S |
possibly damaging |
Het |
Baz2a |
C |
T |
10: 127,957,812 (GRCm39) |
T1055I |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,743,331 (GRCm39) |
M1547V |
probably benign |
Het |
Bsn |
T |
C |
9: 107,993,292 (GRCm39) |
D820G |
probably damaging |
Het |
Castor1 |
T |
A |
11: 4,170,485 (GRCm39) |
N160K |
probably damaging |
Het |
Ccdc57 |
A |
G |
11: 120,812,578 (GRCm39) |
Y59H |
probably damaging |
Het |
Crim1 |
T |
A |
17: 78,651,871 (GRCm39) |
C532S |
probably damaging |
Het |
Csmd2 |
A |
C |
4: 128,200,168 (GRCm39) |
D451A |
|
Het |
Cyp2d22 |
A |
T |
15: 82,256,748 (GRCm39) |
I342K |
probably damaging |
Het |
Des |
A |
T |
1: 75,343,406 (GRCm39) |
T430S |
probably benign |
Het |
Dnah17 |
C |
T |
11: 118,016,503 (GRCm39) |
V283I |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,786,731 (GRCm39) |
G3634E |
probably benign |
Het |
Dst |
A |
G |
1: 34,228,943 (GRCm39) |
S2179G |
probably benign |
Het |
Elp1 |
C |
A |
4: 56,771,003 (GRCm39) |
R980L |
probably benign |
Het |
Esrp2 |
T |
A |
8: 106,858,775 (GRCm39) |
T621S |
possibly damaging |
Het |
Ext2 |
C |
T |
2: 93,534,836 (GRCm39) |
V643I |
probably benign |
Het |
Fastk |
G |
A |
5: 24,649,172 (GRCm39) |
P72S |
probably benign |
Het |
Fbxo28 |
A |
G |
1: 182,145,566 (GRCm39) |
I174T |
possibly damaging |
Het |
Fstl3 |
C |
T |
10: 79,614,411 (GRCm39) |
L38F |
probably damaging |
Het |
Golgb1 |
C |
T |
16: 36,739,181 (GRCm39) |
Q2548* |
probably null |
Het |
Gstm3 |
T |
C |
3: 107,874,956 (GRCm39) |
T99A |
probably benign |
Het |
H2bc15 |
A |
G |
13: 21,938,369 (GRCm39) |
D26G |
unknown |
Het |
Hadh |
T |
C |
3: 131,034,636 (GRCm39) |
N220S |
probably damaging |
Het |
Hnrnpab |
T |
C |
11: 51,497,240 (GRCm39) |
T51A |
probably benign |
Het |
Immt |
G |
T |
6: 71,823,350 (GRCm39) |
W67L |
probably benign |
Het |
Ints8 |
T |
A |
4: 11,213,811 (GRCm39) |
|
probably null |
Het |
Ipo7 |
T |
C |
7: 109,643,826 (GRCm39) |
V407A |
probably damaging |
Het |
Kics2 |
A |
T |
10: 121,586,273 (GRCm39) |
H196L |
probably damaging |
Het |
Krt39 |
T |
G |
11: 99,407,450 (GRCm39) |
Q348P |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,488,456 (GRCm39) |
N4543I |
|
Het |
Macrod2 |
T |
C |
2: 141,652,534 (GRCm39) |
V199A |
probably benign |
Het |
Mast2 |
A |
G |
4: 116,167,701 (GRCm39) |
V1052A |
probably damaging |
Het |
Mfap4 |
T |
C |
11: 61,378,007 (GRCm39) |
F149S |
probably damaging |
Het |
Moap1 |
A |
G |
12: 102,708,526 (GRCm39) |
V341A |
unknown |
Het |
Mprip |
G |
T |
11: 59,628,403 (GRCm39) |
E283D |
possibly damaging |
Het |
Mrgpra2a |
A |
G |
7: 47,077,004 (GRCm39) |
F85L |
possibly damaging |
Het |
Mx1 |
T |
A |
16: 97,252,753 (GRCm39) |
|
probably null |
Het |
Ndc80 |
A |
T |
17: 71,807,294 (GRCm39) |
M554K |
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Or52j3 |
A |
T |
7: 102,836,194 (GRCm39) |
I129F |
probably damaging |
Het |
Or5k1b |
T |
A |
16: 58,581,126 (GRCm39) |
K138* |
probably null |
Het |
Or6c38 |
T |
A |
10: 128,929,472 (GRCm39) |
I124F |
probably damaging |
Het |
Pck1 |
C |
T |
2: 172,996,569 (GRCm39) |
T161I |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,726,959 (GRCm39) |
M1939K |
unknown |
Het |
Pcm1 |
T |
A |
8: 41,732,877 (GRCm39) |
N711K |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,143,894 (GRCm39) |
V393A |
probably benign |
Het |
Pla2g15 |
G |
T |
8: 106,889,539 (GRCm39) |
A229S |
possibly damaging |
Het |
Plekhg1 |
G |
A |
10: 3,907,141 (GRCm39) |
R741Q |
|
Het |
Plod1 |
A |
G |
4: 148,010,626 (GRCm39) |
L275P |
possibly damaging |
Het |
Plvap |
G |
T |
8: 71,964,323 (GRCm39) |
T13K |
possibly damaging |
Het |
Plxna1 |
A |
T |
6: 89,314,320 (GRCm39) |
I707N |
probably damaging |
Het |
Pnma8b |
A |
G |
7: 16,680,843 (GRCm39) |
E609G |
probably benign |
Het |
Ptger4 |
C |
T |
15: 5,273,193 (GRCm39) |
|
probably benign |
Het |
Qars1 |
G |
T |
9: 108,386,132 (GRCm39) |
E108* |
probably null |
Het |
Rfpl4 |
C |
A |
7: 5,113,840 (GRCm39) |
D114Y |
probably damaging |
Het |
Rint1 |
A |
G |
5: 24,010,411 (GRCm39) |
T207A |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,552,261 (GRCm39) |
I680T |
probably benign |
Het |
Skint2 |
A |
T |
4: 112,502,616 (GRCm39) |
K275N |
probably benign |
Het |
Slc29a3 |
A |
G |
10: 60,559,755 (GRCm39) |
V133A |
possibly damaging |
Het |
Slc9a2 |
A |
G |
1: 40,805,460 (GRCm39) |
K680E |
probably benign |
Het |
Smc1b |
A |
T |
15: 85,004,846 (GRCm39) |
F409L |
probably benign |
Het |
Sos2 |
A |
T |
12: 69,695,239 (GRCm39) |
M166K |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,123,554 (GRCm39) |
D3152G |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,358,723 (GRCm39) |
I12V |
probably benign |
Het |
Tead3 |
C |
A |
17: 28,551,709 (GRCm39) |
K461N |
probably benign |
Het |
Tex12 |
C |
A |
9: 50,468,772 (GRCm39) |
A83S |
probably damaging |
Het |
Top6bl |
T |
G |
19: 4,746,068 (GRCm39) |
K199Q |
possibly damaging |
Het |
Ttc28 |
A |
G |
5: 111,325,525 (GRCm39) |
T319A |
unknown |
Het |
Ttn |
T |
C |
2: 76,728,593 (GRCm39) |
I5496V |
unknown |
Het |
Tubb4a |
T |
A |
17: 57,387,959 (GRCm39) |
I356F |
possibly damaging |
Het |
Txk |
A |
T |
5: 72,891,610 (GRCm39) |
W119R |
probably damaging |
Het |
Txnl4a |
A |
T |
18: 80,261,937 (GRCm39) |
I58F |
probably benign |
Het |
Uba6 |
A |
T |
5: 86,318,418 (GRCm39) |
Y44N |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,878,009 (GRCm39) |
T1093A |
probably benign |
Het |
Vmn1r194 |
T |
C |
13: 22,428,731 (GRCm39) |
I116T |
probably benign |
Het |
Vmn2r14 |
A |
G |
5: 109,368,176 (GRCm39) |
M272T |
possibly damaging |
Het |
Vmn2r85 |
C |
A |
10: 130,255,033 (GRCm39) |
M550I |
possibly damaging |
Het |
Vmn2r85 |
C |
A |
10: 130,261,534 (GRCm39) |
V268F |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,416,890 (GRCm39) |
V529E |
probably damaging |
Het |
Zfp141 |
A |
T |
7: 42,124,821 (GRCm39) |
Y550* |
probably null |
Het |
Zik1 |
G |
A |
7: 10,224,156 (GRCm39) |
L314F |
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 |
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 |
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'- TACCTATAGATTGGGTGCAAAGTAGG -3'
(R):5'- GGTGGAAACTCTGCATTCCTC -3'
Sequencing Primer
(F):5'- TTACCCTAGCTTTGGCAGGCAG -3'
(R):5'- GGTGGAAACTCTGCATTCCTCTAATG -3'
|
Posted On |
2022-03-25 |