Incidental Mutation 'R8724:Kif20b'
| ID |
682538 |
| 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 |
068573-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R8724 (G1)
|
| Quality Score |
90.0077 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 34916146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000225408]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087341
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
| 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
|
| 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: 99.5%
|
| Validation Efficiency |
99% (69/70) |
| 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 |
|---|
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,737,405 (GRCm39) |
D2826E |
unknown |
Het |
| Asb3 |
A |
T |
11: 31,051,120 (GRCm39) |
I486F |
probably damaging |
Het |
| Atg4b |
A |
T |
1: 93,696,023 (GRCm39) |
Y54F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,945 (GRCm39) |
I792F |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 36,945,042 (GRCm39) |
V334I |
probably damaging |
Het |
| Ccser1 |
A |
C |
6: 61,288,199 (GRCm39) |
S121R |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,856,199 (GRCm39) |
V406E |
possibly damaging |
Het |
| Ces2g |
C |
A |
8: 105,692,955 (GRCm39) |
A331D |
probably benign |
Het |
| Csnk1g2 |
G |
A |
10: 80,474,760 (GRCm39) |
R299H |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dock10 |
T |
G |
1: 80,570,344 (GRCm39) |
I371L |
probably benign |
Het |
| Dpp9 |
T |
A |
17: 56,512,867 (GRCm39) |
T114S |
probably benign |
Het |
| Dusp13b |
T |
C |
14: 21,796,475 (GRCm39) |
R160G |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,923,961 (GRCm39) |
D188G |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,651,624 (GRCm39) |
K122R |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,886 (GRCm39) |
S1486P |
possibly damaging |
Het |
| Elf3 |
A |
G |
1: 135,182,098 (GRCm39) |
I361T |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,403,818 (GRCm39) |
C761Y |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
| Eya1 |
A |
T |
1: 14,279,206 (GRCm39) |
D346E |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,786 (GRCm39) |
Y2309C |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,202,066 (GRCm39) |
D1269G |
probably damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,577,097 (GRCm39) |
V143A |
probably damaging |
Het |
| Foxo6 |
A |
G |
4: 120,144,109 (GRCm39) |
I114T |
probably damaging |
Het |
| Gm6741 |
T |
C |
17: 91,544,564 (GRCm39) |
I109T |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Hsf1 |
C |
T |
15: 76,381,999 (GRCm39) |
S199L |
probably damaging |
Het |
| Htr3a |
T |
C |
9: 48,815,981 (GRCm39) |
N152S |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,617,100 (GRCm39) |
E82D |
probably benign |
Het |
| Kank2 |
T |
G |
9: 21,705,917 (GRCm39) |
K367T |
possibly damaging |
Het |
| Ktn1 |
G |
A |
14: 47,931,335 (GRCm39) |
V643I |
probably benign |
Het |
| Lipk |
G |
A |
19: 33,996,120 (GRCm39) |
V11M |
probably benign |
Het |
| Med4 |
T |
A |
14: 73,751,249 (GRCm39) |
L66* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,451,500 (GRCm39) |
K379E |
probably damaging |
Het |
| Nat1 |
T |
A |
8: 67,944,443 (GRCm39) |
I276N |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,141,184 (GRCm39) |
V910M |
possibly damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,082,704 (GRCm39) |
I141N |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,373 (GRCm39) |
D266E |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,124,583 (GRCm39) |
V529A |
probably benign |
Het |
| Pcdhga7 |
C |
T |
18: 37,848,146 (GRCm39) |
T51I |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,968,956 (GRCm39) |
Y121H |
probably damaging |
Het |
| Pdia6 |
A |
G |
12: 17,333,982 (GRCm39) |
D438G |
unknown |
Het |
| Pgm1 |
A |
G |
4: 99,786,964 (GRCm39) |
T68A |
probably benign |
Het |
| Pik3c2g |
G |
A |
6: 139,913,619 (GRCm39) |
V1006I |
unknown |
Het |
| Plk4 |
C |
T |
3: 40,768,022 (GRCm39) |
T855I |
probably damaging |
Het |
| Pnldc1 |
T |
A |
17: 13,111,703 (GRCm39) |
N335Y |
probably damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,784 (GRCm39) |
P658S |
probably benign |
Het |
| Rbl2 |
T |
C |
8: 91,841,837 (GRCm39) |
I1011T |
possibly damaging |
Het |
| Rev1 |
A |
C |
1: 38,127,150 (GRCm39) |
V370G |
probably damaging |
Het |
| Rtn4 |
A |
G |
11: 29,643,316 (GRCm39) |
E43G |
unknown |
Het |
| Rtp2 |
C |
T |
16: 23,746,064 (GRCm39) |
G189D |
possibly damaging |
Het |
| Ryr1 |
G |
A |
7: 28,816,802 (GRCm39) |
A78V |
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,293,165 (GRCm39) |
Y850* |
probably null |
Het |
| Senp3 |
T |
C |
11: 69,564,419 (GRCm39) |
Q547R |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,976 (GRCm39) |
L402P |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,855,453 (GRCm39) |
I485V |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,012,610 (GRCm39) |
H204Q |
probably benign |
Het |
| Slc9a4 |
T |
G |
1: 40,623,301 (GRCm39) |
I180S |
probably damaging |
Het |
| Smyd1 |
T |
A |
6: 71,193,767 (GRCm39) |
Y420F |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,139,658 (GRCm39) |
I1168T |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,033,861 (GRCm39) |
E7737G |
possibly damaging |
Het |
| Trappc4 |
T |
A |
9: 44,316,560 (GRCm39) |
H145L |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,512 (GRCm39) |
V1453A |
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,681,110 (GRCm39) |
I318T |
probably benign |
Het |
| Zfp846 |
G |
A |
9: 20,505,352 (GRCm39) |
R404H |
possibly 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 |
|
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'- GGAATGCAGAGTTTCCACCTG -3'
(R):5'- GCTTGCTTGTCTCAAAGAAAGG -3'
Sequencing Primer
(F):5'- GAGTTTCCACCTGCCACAAAAAG -3'
(R):5'- TTCTGAATTAGAGGCCAGCC -3'
|
| Posted On |
2021-09-03 |
Incidental Mutation