Incidental Mutation 'R4901:Kif20b'
| ID |
376191 |
| 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: 0.900)
|
| Stock # |
R4901 (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 G
at 34911836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 233
(Y233C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223776]
[ENSMUST00000223907]
[ENSMUST00000225408]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087341
AA Change: Y233C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: Y233C
| 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: ENSMUST00000223776
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223907
AA Change: Y233C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224603
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225408
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.6%
|
| 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 |
|---|
| Abcg4 |
C |
T |
9: 44,188,954 (GRCm39) |
|
probably null |
Het |
| Arg2 |
T |
C |
12: 79,194,485 (GRCm39) |
V103A |
probably damaging |
Het |
| Bicra |
T |
A |
7: 15,721,526 (GRCm39) |
T664S |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 107,001,686 (GRCm39) |
Y475* |
probably null |
Het |
| Calcrl |
T |
C |
2: 84,163,857 (GRCm39) |
I445V |
probably benign |
Het |
| Ccdc110 |
G |
A |
8: 46,396,437 (GRCm39) |
R776Q |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,727,894 (GRCm39) |
N4S |
probably damaging |
Het |
| Ccni |
G |
A |
5: 93,331,003 (GRCm39) |
R323W |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,314,303 (GRCm39) |
M1241L |
possibly damaging |
Het |
| Cpd |
T |
C |
11: 76,681,707 (GRCm39) |
I1145M |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,367,323 (GRCm39) |
D265V |
probably benign |
Het |
| Dennd2a |
T |
C |
6: 39,499,621 (GRCm39) |
T315A |
probably benign |
Het |
| Dgkz |
T |
A |
2: 91,767,076 (GRCm39) |
Q905L |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,059,688 (GRCm39) |
|
probably null |
Het |
| Elp2 |
A |
G |
18: 24,752,542 (GRCm39) |
H365R |
probably damaging |
Het |
| Gm136 |
G |
A |
4: 34,746,580 (GRCm39) |
Q144* |
probably null |
Het |
| Gon4l |
T |
C |
3: 88,815,458 (GRCm39) |
V2008A |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Isyna1 |
A |
T |
8: 71,049,246 (GRCm39) |
H414L |
probably damaging |
Het |
| Klk1 |
A |
T |
7: 43,878,139 (GRCm39) |
I132F |
probably damaging |
Het |
| Klre1 |
A |
T |
6: 129,561,188 (GRCm39) |
H183L |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,711,657 (GRCm39) |
T3188A |
probably damaging |
Het |
| Mapk12 |
A |
T |
15: 89,018,841 (GRCm39) |
L198* |
probably null |
Het |
| Mt4 |
A |
C |
8: 94,864,912 (GRCm39) |
T29P |
possibly damaging |
Het |
| Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,314,659 (GRCm39) |
Q269R |
possibly damaging |
Het |
| Or4p23 |
C |
G |
2: 88,577,231 (GRCm39) |
|
probably null |
Het |
| Or51e1 |
A |
G |
7: 102,359,405 (GRCm39) |
H313R |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,435,112 (GRCm39) |
I421V |
probably null |
Het |
| Pde3b |
A |
T |
7: 114,107,425 (GRCm39) |
T519S |
probably damaging |
Het |
| Phf21a |
T |
A |
2: 92,187,346 (GRCm39) |
C178* |
probably null |
Het |
| Phtf2 |
A |
G |
5: 21,010,722 (GRCm39) |
S88P |
possibly damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,435,982 (GRCm39) |
M394V |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,934,027 (GRCm39) |
P752S |
probably benign |
Het |
| Pp2d1 |
C |
A |
17: 53,822,037 (GRCm39) |
G343V |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,143,272 (GRCm39) |
I140V |
possibly damaging |
Het |
| Ppp6r3 |
C |
A |
19: 3,517,229 (GRCm39) |
V75L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,524,275 (GRCm39) |
H486L |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,877,056 (GRCm39) |
T807M |
probably benign |
Het |
| Rasgrp3 |
C |
A |
17: 75,821,111 (GRCm39) |
Y439* |
probably null |
Het |
| Rbm44 |
A |
G |
1: 91,081,050 (GRCm39) |
T413A |
probably benign |
Het |
| Rnf135 |
T |
C |
11: 80,089,662 (GRCm39) |
C333R |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,680,226 (GRCm39) |
V309A |
probably damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,701 (GRCm39) |
S70G |
probably benign |
Het |
| Serpina3m |
A |
T |
12: 104,355,908 (GRCm39) |
K192* |
probably null |
Het |
| Sft2d1rt |
A |
G |
11: 45,942,656 (GRCm39) |
S156P |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,506 (GRCm39) |
I756V |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,702,648 (GRCm39) |
V516A |
probably damaging |
Het |
| Sult2a5 |
T |
A |
7: 13,359,188 (GRCm39) |
C55S |
probably benign |
Het |
| Tars3 |
C |
T |
7: 65,341,042 (GRCm39) |
T783M |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,172,805 (GRCm39) |
I1819N |
possibly damaging |
Het |
| Timeless |
T |
C |
10: 128,086,631 (GRCm39) |
F1057L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,628,418 (GRCm39) |
I12835F |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,617,834 (GRCm39) |
D185E |
probably benign |
Het |
| Vmn2r74 |
G |
T |
7: 85,605,199 (GRCm39) |
S483* |
probably null |
Het |
| Xpo1 |
A |
T |
11: 23,231,327 (GRCm39) |
I304F |
possibly damaging |
Het |
| Zc3h11a |
A |
G |
1: 133,552,449 (GRCm39) |
S553P |
probably benign |
Het |
| Zdhhc1 |
A |
G |
8: 106,199,484 (GRCm39) |
S402P |
probably benign |
Het |
| Zwilch |
T |
C |
9: 64,070,028 (GRCm39) |
Y101C |
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 |
|
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'- GTGACTCCCATCCCAGATCC -3'
(R):5'- CTTACAACTACTCACAGTTCATATAGC -3'
Sequencing Primer
(F):5'- CTGGTACATACATGAGCCATTCTGG -3'
(R):5'- GCTTTGAAACATTTTGTAGGTACTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation