Incidental Mutation 'IGL02536:Kif20b'
| ID |
297505 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif20b
|
| Ensembl Gene |
ENSMUSG00000024795 |
| Gene Name |
kinesin family member 20B |
| Synonyms |
C330014J10Rik, magoo, Kif20b, N-6 kinesin, Mphosph1, 33cex |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
IGL02536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34951959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1746
(S1746T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087341
AA Change: S1746T
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: S1746T
| 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: S1706T
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224381
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000225151
AA Change: S107T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225625
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,685,665 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8b |
C |
T |
11: 109,872,574 (GRCm39) |
R9H |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,873,368 (GRCm39) |
S858T |
probably benign |
Het |
| Alg1 |
C |
T |
16: 5,057,023 (GRCm39) |
Q245* |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,813,910 (GRCm39) |
Y423C |
probably damaging |
Het |
| Anp32a |
A |
T |
9: 62,279,110 (GRCm39) |
T55S |
probably damaging |
Het |
| Arhgef9 |
A |
C |
X: 94,102,443 (GRCm39) |
V406G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,259 (GRCm39) |
F275S |
possibly damaging |
Het |
| Card9 |
C |
T |
2: 26,248,844 (GRCm39) |
V102I |
possibly damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,526,788 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
A |
3: 100,910,913 (GRCm39) |
D915V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,754 (GRCm39) |
D77G |
possibly damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,435,540 (GRCm39) |
T827A |
probably benign |
Het |
| Dspp |
A |
C |
5: 104,323,531 (GRCm39) |
T225P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,112,035 (GRCm39) |
E1885G |
probably damaging |
Het |
| Fstl4 |
C |
T |
11: 53,024,851 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
T |
A |
14: 44,575,015 (GRCm39) |
N57I |
probably damaging |
Het |
| Gnl2 |
C |
T |
4: 124,946,401 (GRCm39) |
Q541* |
probably null |
Het |
| Igkv3-1 |
T |
C |
6: 70,681,035 (GRCm39) |
V78A |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,147,338 (GRCm39) |
I321T |
probably benign |
Het |
| Lrrc8c |
T |
C |
5: 105,755,038 (GRCm39) |
I271T |
probably benign |
Het |
| Mrps10 |
T |
C |
17: 47,685,928 (GRCm39) |
Y152H |
probably damaging |
Het |
| Myl9 |
C |
T |
2: 156,620,469 (GRCm39) |
S2L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,938,103 (GRCm39) |
H870Q |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,067,367 (GRCm39) |
I456F |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,009,723 (GRCm39) |
H550R |
probably benign |
Het |
| Or13f5 |
T |
A |
4: 52,825,817 (GRCm39) |
V140D |
possibly damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
| Or51v8 |
T |
A |
7: 103,320,164 (GRCm39) |
I25F |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,460 (GRCm39) |
L144P |
probably damaging |
Het |
| P2rx1 |
A |
T |
11: 72,903,300 (GRCm39) |
I230F |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,216,063 (GRCm39) |
V2275A |
possibly damaging |
Het |
| Pip5k1a |
G |
A |
3: 94,971,707 (GRCm39) |
T465I |
probably benign |
Het |
| Pnkd |
G |
A |
1: 74,391,059 (GRCm39) |
R415H |
probably damaging |
Het |
| Prdx4 |
T |
A |
X: 154,115,443 (GRCm39) |
I132F |
probably damaging |
Het |
| Pvr |
A |
G |
7: 19,652,717 (GRCm39) |
M66T |
probably benign |
Het |
| Rnf216 |
A |
G |
5: 143,065,995 (GRCm39) |
I531T |
probably benign |
Het |
| Rps6ka4 |
A |
T |
19: 6,809,439 (GRCm39) |
F405Y |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,452,679 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,513 (GRCm39) |
K12R |
probably benign |
Het |
| Slc17a7 |
A |
G |
7: 44,820,370 (GRCm39) |
E275G |
probably damaging |
Het |
| Tnpo2 |
A |
T |
8: 85,771,696 (GRCm39) |
I245F |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,689,463 (GRCm39) |
|
probably null |
Het |
| Yju2b |
A |
T |
8: 84,987,245 (GRCm39) |
Y109* |
probably null |
Het |
| Zcchc4 |
C |
T |
5: 52,965,658 (GRCm39) |
R321W |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation