Incidental Mutation 'R7418:Kif20b'
| ID |
575486 |
| 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 |
045496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R7418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34907087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 119
(F119L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223776]
[ENSMUST00000223907]
[ENSMUST00000225408]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087341
AA Change: F119L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: F119L
| 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 damaging
Transcript: ENSMUST00000223776
AA Change: F119L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223907
AA Change: F119L
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225408
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (66/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apaf1 |
T |
G |
10: 90,859,697 (GRCm39) |
H827P |
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,365,926 (GRCm39) |
L308Q |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,904,616 (GRCm39) |
L404P |
probably damaging |
Het |
| Cdh13 |
G |
A |
8: 120,039,264 (GRCm39) |
G569R |
probably damaging |
Het |
| Clec14a |
G |
A |
12: 58,315,433 (GRCm39) |
T63I |
probably damaging |
Het |
| Cngb1 |
G |
T |
8: 96,004,887 (GRCm39) |
S487* |
probably null |
Het |
| Cog5 |
A |
T |
12: 31,883,240 (GRCm39) |
N390Y |
probably damaging |
Het |
| Col6a4 |
C |
T |
9: 105,900,114 (GRCm39) |
G1670S |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,129,579 (GRCm39) |
D53E |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,444,307 (GRCm39) |
T539I |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,965,622 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
C |
T |
2: 24,774,646 (GRCm39) |
G53R |
probably benign |
Het |
| Eif2b1 |
T |
A |
5: 124,714,893 (GRCm39) |
N113Y |
probably benign |
Het |
| Eya3 |
A |
G |
4: 132,408,159 (GRCm39) |
T152A |
possibly damaging |
Het |
| Fam234b |
G |
A |
6: 135,194,009 (GRCm39) |
V221M |
probably benign |
Het |
| Fbxl13 |
T |
A |
5: 21,786,981 (GRCm39) |
T319S |
probably benign |
Het |
| Fchsd2 |
G |
T |
7: 100,920,831 (GRCm39) |
V479F |
possibly damaging |
Het |
| Fgd5 |
T |
C |
6: 92,001,519 (GRCm39) |
S905P |
probably benign |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| Fxn |
C |
T |
19: 24,257,860 (GRCm39) |
V24I |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,615,130 (GRCm39) |
D456N |
probably benign |
Het |
| Gm128 |
C |
T |
3: 95,147,878 (GRCm39) |
V139M |
possibly damaging |
Het |
| Gm973 |
A |
G |
1: 59,565,972 (GRCm39) |
T64A |
probably damaging |
Het |
| Gtf2h5 |
T |
A |
17: 6,134,903 (GRCm39) |
N64K |
probably damaging |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Haus6 |
A |
G |
4: 86,513,010 (GRCm39) |
S386P |
possibly damaging |
Het |
| Hsh2d |
A |
G |
8: 72,950,638 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
C |
5: 34,947,697 (GRCm39) |
M125T |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,635,933 (GRCm39) |
|
probably null |
Het |
| Ints4 |
G |
A |
7: 97,140,179 (GRCm39) |
A137T |
probably benign |
Het |
| Isl2 |
A |
G |
9: 55,451,636 (GRCm39) |
D263G |
probably benign |
Het |
| Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
| Jpt1 |
A |
T |
11: 115,389,095 (GRCm39) |
L116Q |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,429,775 (GRCm39) |
S86P |
possibly damaging |
Het |
| Kat2b |
G |
T |
17: 53,917,953 (GRCm39) |
R104I |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,102,362 (GRCm39) |
A331D |
probably benign |
Het |
| Kcnk3 |
G |
A |
5: 30,779,675 (GRCm39) |
V242M |
possibly damaging |
Het |
| Kdm4a |
A |
G |
4: 118,017,440 (GRCm39) |
L542P |
probably damaging |
Het |
| Krtcap3 |
A |
T |
5: 31,409,881 (GRCm39) |
H149L |
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,586,005 (GRCm39) |
V102A |
probably damaging |
Het |
| Luc7l |
T |
A |
17: 26,472,156 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,975,900 (GRCm39) |
A1323S |
possibly damaging |
Het |
| Myl1 |
T |
A |
1: 66,965,338 (GRCm39) |
R151S |
unknown |
Het |
| Naif1 |
A |
G |
2: 32,342,583 (GRCm39) |
S45G |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,501,800 (GRCm39) |
T121I |
probably damaging |
Het |
| Neurod6 |
C |
T |
6: 55,656,283 (GRCm39) |
R118Q |
probably damaging |
Het |
| Npl |
A |
T |
1: 153,413,257 (GRCm39) |
|
probably null |
Het |
| Nr4a3 |
T |
C |
4: 48,051,476 (GRCm39) |
Y77H |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,320 (GRCm39) |
C125* |
probably null |
Het |
| Or4b1 |
T |
G |
2: 89,979,831 (GRCm39) |
D173A |
probably damaging |
Het |
| Pex11a |
G |
A |
7: 79,392,735 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
T |
A |
17: 29,359,470 (GRCm39) |
F553I |
unknown |
Het |
| Sbf2 |
C |
T |
7: 109,965,028 (GRCm39) |
R1002H |
probably damaging |
Het |
| Sectm1a |
C |
A |
11: 120,960,119 (GRCm39) |
|
probably null |
Het |
| Slit3 |
G |
A |
11: 35,577,255 (GRCm39) |
V1163M |
possibly damaging |
Het |
| Sphk2 |
G |
A |
7: 45,361,180 (GRCm39) |
R275C |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,466 (GRCm39) |
S96G |
probably benign |
Het |
| Tg |
A |
G |
15: 66,568,432 (GRCm39) |
E1373G |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,435,458 (GRCm39) |
|
probably null |
Het |
| Trp53 |
T |
C |
11: 69,479,214 (GRCm39) |
F131L |
probably damaging |
Het |
| Ttc21a |
A |
T |
9: 119,788,117 (GRCm39) |
E847D |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,602,791 (GRCm39) |
F18477S |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,910,730 (GRCm39) |
R929* |
probably null |
Het |
| Usp49 |
G |
T |
17: 47,983,093 (GRCm39) |
E33* |
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,806,554 (GRCm39) |
V26A |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,081 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,105,366 (GRCm39) |
V154I |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,799 (GRCm39) |
K446E |
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 |
|
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'- CCCTGGATGTGTGAGTTTTCTAT -3'
(R):5'- TGGGAAAATACTGAATTAATGGTTCT -3'
Sequencing Primer
(F):5'- TTAGACTTACTGGCAGGCAC -3'
(R):5'- TCCAGAATTGGTCAGACC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation