Incidental Mutation 'R4698:Kif20b'
| ID |
355874 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R4698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34928944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1190
(D1190V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000223937]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087341
AA Change: D1230V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: D1230V
| 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: ENSMUST00000223907
AA Change: D1190V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223937
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,349,049 (GRCm39) |
V11A |
possibly damaging |
Het |
| 6030452D12Rik |
T |
C |
8: 107,230,979 (GRCm39) |
I55T |
unknown |
Het |
| Aadacl2 |
A |
G |
3: 59,932,460 (GRCm39) |
D325G |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,988,274 (GRCm39) |
S113G |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,392,130 (GRCm39) |
|
probably null |
Het |
| Aicda |
C |
T |
6: 122,530,847 (GRCm39) |
|
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,563,535 (GRCm39) |
M135T |
probably benign |
Het |
| Asah2 |
T |
C |
19: 32,031,871 (GRCm39) |
|
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,543 (GRCm39) |
R390G |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,705,654 (GRCm38) |
E247G |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,146,873 (GRCm39) |
I383T |
probably damaging |
Het |
| Celf3 |
T |
A |
3: 94,392,174 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
T |
C |
6: 55,079,852 (GRCm39) |
S162G |
possibly damaging |
Het |
| Dapl1 |
A |
T |
2: 59,335,118 (GRCm39) |
K91* |
probably null |
Het |
| Ddx60 |
A |
C |
8: 62,465,458 (GRCm39) |
M1372L |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,389,358 (GRCm39) |
F845I |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,531,478 (GRCm39) |
V310A |
probably benign |
Het |
| Eef1g |
A |
G |
19: 8,955,330 (GRCm39) |
D393G |
possibly damaging |
Het |
| Eif3k |
T |
C |
7: 28,671,969 (GRCm39) |
I172V |
possibly damaging |
Het |
| Foxd4 |
A |
G |
19: 24,877,625 (GRCm39) |
F192L |
probably damaging |
Het |
| Gpr153 |
T |
A |
4: 152,366,240 (GRCm39) |
S268R |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,394 (GRCm39) |
R129S |
probably damaging |
Het |
| Ivl |
T |
C |
3: 92,478,698 (GRCm39) |
K456E |
unknown |
Het |
| Kif21a |
T |
A |
15: 90,840,508 (GRCm39) |
I1223L |
possibly damaging |
Het |
| Lmf1 |
T |
C |
17: 25,798,324 (GRCm39) |
V55A |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,459,987 (GRCm39) |
E659G |
possibly damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,394,930 (GRCm39) |
E165G |
possibly damaging |
Het |
| Mios |
T |
C |
6: 8,228,113 (GRCm39) |
Y677H |
possibly damaging |
Het |
| Mnx1 |
T |
A |
5: 29,679,057 (GRCm39) |
K342M |
unknown |
Het |
| Mtpap |
A |
T |
18: 4,375,724 (GRCm39) |
T35S |
possibly damaging |
Het |
| Ndc1 |
C |
G |
4: 107,268,334 (GRCm39) |
D623E |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,336,951 (GRCm39) |
Y666C |
probably damaging |
Het |
| Or52s6 |
T |
A |
7: 103,091,842 (GRCm39) |
I163F |
possibly damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,135,720 (GRCm39) |
T17A |
probably damaging |
Het |
| Or5b12b |
T |
G |
19: 12,861,985 (GRCm39) |
F247V |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,596 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Papss1 |
G |
T |
3: 131,313,092 (GRCm39) |
V369F |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,822 (GRCm39) |
Y601N |
probably damaging |
Het |
| Pde7a |
C |
T |
3: 19,365,095 (GRCm39) |
R24Q |
probably damaging |
Het |
| Phf21a |
A |
G |
2: 92,187,297 (GRCm39) |
D445G |
probably damaging |
Het |
| Plekho1 |
T |
A |
3: 95,902,964 (GRCm39) |
N15I |
possibly damaging |
Het |
| Pprc1 |
T |
C |
19: 46,057,634 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,724,061 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
T |
C |
19: 41,861,481 (GRCm39) |
E942G |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,051,830 (GRCm39) |
D685G |
probably benign |
Het |
| Smim23 |
A |
T |
11: 32,774,510 (GRCm39) |
I3N |
possibly damaging |
Het |
| Spata7 |
A |
T |
12: 98,630,536 (GRCm39) |
I333F |
probably damaging |
Het |
| Sppl2c |
T |
C |
11: 104,079,141 (GRCm39) |
I647T |
probably benign |
Het |
| Srgap1 |
C |
A |
10: 121,628,392 (GRCm39) |
R837L |
probably benign |
Het |
| Stpg2 |
C |
A |
3: 139,014,990 (GRCm39) |
P385H |
probably damaging |
Het |
| Tmem238 |
C |
A |
7: 4,792,016 (GRCm39) |
E19* |
probably null |
Het |
| Top2b |
A |
T |
14: 16,387,331 (GRCm38) |
K140* |
probably null |
Het |
| Trp53 |
T |
A |
11: 69,479,248 (GRCm39) |
L142* |
probably null |
Het |
| Tyro3 |
A |
T |
2: 119,633,751 (GRCm39) |
D133V |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,636 (GRCm39) |
I1291N |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,507 (GRCm39) |
|
probably benign |
Het |
| Zbtb10 |
T |
C |
3: 9,329,610 (GRCm39) |
S323P |
possibly damaging |
Het |
| Zfp521 |
A |
T |
18: 13,978,660 (GRCm39) |
N584K |
probably damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,180 (GRCm39) |
C356R |
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 |
|
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'- GACACCCCTTGAAGCACTCATTG -3'
(R):5'- GCAGGGGTCATTTCCAAAGC -3'
Sequencing Primer
(F):5'- ACTCATTGCTAGTTTACATGCG -3'
(R):5'- GCAGGGGTCATTTCCAAAGCTATTAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation