Incidental Mutation 'R8849:Kif20b'
| ID |
674910 |
| 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 |
068672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R8849 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 34915716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 498
(Q498*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000225408]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087341
AA Change: Q498*
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: Q498*
| 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 null
Transcript: ENSMUST00000223907
AA Change: Q498*
|
| 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 |
100% (52/52) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
G |
A |
16: 14,439,376 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,669,324 (GRCm39) |
T2411A |
probably benign |
Het |
| Aldh5a1 |
T |
A |
13: 25,121,464 (GRCm39) |
T30S |
probably benign |
Het |
| Alg1 |
G |
A |
16: 5,051,532 (GRCm39) |
A7T |
possibly damaging |
Het |
| Ano10 |
T |
A |
9: 122,090,510 (GRCm39) |
M268L |
probably benign |
Het |
| Avil |
T |
C |
10: 126,844,661 (GRCm39) |
V264A |
possibly damaging |
Het |
| Bicc1 |
T |
A |
10: 70,782,694 (GRCm39) |
I558F |
probably benign |
Het |
| Bst1 |
A |
T |
5: 43,977,927 (GRCm39) |
H92L |
possibly damaging |
Het |
| C1s2 |
T |
C |
6: 124,602,754 (GRCm39) |
N486D |
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,734,627 (GRCm39) |
H452L |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,288,537 (GRCm39) |
D233E |
probably benign |
Het |
| Ceacam18 |
G |
T |
7: 43,294,967 (GRCm39) |
L342F |
probably benign |
Het |
| Cep95 |
T |
A |
11: 106,707,630 (GRCm39) |
M691K |
|
Het |
| Cfap221 |
G |
A |
1: 119,922,874 (GRCm39) |
P23S |
probably damaging |
Het |
| Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
| Col20a1 |
T |
C |
2: 180,640,432 (GRCm39) |
Y572H |
probably damaging |
Het |
| Cr2 |
C |
T |
1: 194,839,547 (GRCm39) |
V627M |
probably damaging |
Het |
| Cul2 |
T |
A |
18: 3,423,551 (GRCm39) |
H320Q |
probably benign |
Het |
| Ddx5 |
A |
T |
11: 106,675,975 (GRCm39) |
V266E |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,846,365 (GRCm39) |
V336A |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,121,156 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
C |
A |
7: 105,370,723 (GRCm39) |
Q4668K |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,904,986 (GRCm39) |
E630K |
|
Het |
| Dolk |
T |
C |
2: 30,174,935 (GRCm39) |
E370G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,291,565 (GRCm39) |
L1003Q |
probably damaging |
Het |
| Foxc1 |
T |
C |
13: 31,992,817 (GRCm39) |
S543P |
unknown |
Het |
| Gbp2b |
A |
C |
3: 142,313,913 (GRCm39) |
M398L |
probably benign |
Het |
| Gigyf2 |
G |
T |
1: 87,361,592 (GRCm39) |
R908L |
unknown |
Het |
| Gpr176 |
T |
A |
2: 118,110,095 (GRCm39) |
E388V |
probably damaging |
Het |
| Gpx8 |
C |
T |
13: 113,179,704 (GRCm39) |
G199E |
probably benign |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
| Ifi208 |
G |
A |
1: 173,506,184 (GRCm39) |
|
probably benign |
Het |
| Itgad |
T |
A |
7: 127,789,157 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,163,543 (GRCm39) |
Y1463H |
unknown |
Het |
| Mms19 |
A |
T |
19: 41,952,767 (GRCm39) |
L114Q |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,094,986 (GRCm39) |
V601A |
possibly damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,407,447 (GRCm39) |
M87L |
probably benign |
Het |
| Nhlrc2 |
T |
C |
19: 56,580,184 (GRCm39) |
V439A |
possibly damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,179,038 (GRCm39) |
H124L |
probably damaging |
Het |
| Opn4 |
A |
G |
14: 34,318,986 (GRCm39) |
W200R |
probably damaging |
Het |
| Or2b2b |
T |
C |
13: 21,858,226 (GRCm39) |
E296G |
possibly damaging |
Het |
| Pax2 |
T |
C |
19: 44,749,111 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
G |
T |
2: 156,118,440 (GRCm39) |
Q381H |
probably damaging |
Het |
| Pramel25 |
A |
G |
4: 143,521,596 (GRCm39) |
N404S |
probably damaging |
Het |
| Pramel32 |
T |
A |
4: 88,546,014 (GRCm39) |
T443S |
probably benign |
Het |
| Pramel34 |
A |
T |
5: 93,784,197 (GRCm39) |
H422Q |
probably benign |
Het |
| Rb1 |
C |
T |
14: 73,434,709 (GRCm39) |
R903Q |
probably damaging |
Het |
| Scamp4 |
T |
A |
10: 80,445,266 (GRCm39) |
V37E |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,302,673 (GRCm39) |
W733R |
probably damaging |
Het |
| Sertm1 |
A |
G |
3: 54,806,749 (GRCm39) |
V92A |
possibly damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,250,180 (GRCm39) |
F638L |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,159,171 (GRCm39) |
S703P |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,272,656 (GRCm39) |
M570K |
probably benign |
Het |
| Zfp433 |
T |
C |
10: 81,556,875 (GRCm39) |
I459T |
probably benign |
Het |
| Zfp697 |
A |
G |
3: 98,334,943 (GRCm39) |
E236G |
probably benign |
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 |
|
R8724:Kif20b
|
UTSW |
19 |
34,916,146 (GRCm39) |
unclassified |
probably benign |
|
|
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'- ACCTATAGATTGGGTGCAAAGTAG -3'
(R):5'- TGTGGCAGGTGGAAACTCTG -3'
Sequencing Primer
(F):5'- TTACCCTAGCTTTGGCAGGCAG -3'
(R):5'- AGGTGGAAACTCTGCATTCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation