Incidental Mutation 'R5540:Kif20b'
ID |
435936 |
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 |
043098-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R5540 (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 34915860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 546
(M546L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153034
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000225408]
|
AlphaFold |
Q80WE4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087341
AA Change: M546L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000084599 Gene: ENSMUSG00000024795 AA Change: M546L
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: M546L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225408
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700008O03Rik |
A |
G |
7: 44,012,371 (GRCm39) |
S15P |
probably damaging |
Het |
Actl7a |
A |
T |
4: 56,744,388 (GRCm39) |
H305L |
probably benign |
Het |
Adam26b |
C |
A |
8: 43,974,654 (GRCm39) |
C116F |
probably damaging |
Het |
Adgrl2 |
A |
G |
3: 148,543,198 (GRCm39) |
|
probably null |
Het |
Akr1b10 |
A |
G |
6: 34,371,047 (GRCm39) |
T238A |
probably damaging |
Het |
Akr1c18 |
A |
G |
13: 4,187,178 (GRCm39) |
V186A |
probably benign |
Het |
Alpk3 |
G |
A |
7: 80,745,184 (GRCm39) |
V1311M |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,143,569 (GRCm39) |
N1229S |
probably benign |
Het |
Apobec3 |
T |
A |
15: 79,782,120 (GRCm39) |
N43K |
probably benign |
Het |
Arid1a |
A |
C |
4: 133,407,765 (GRCm39) |
D2247E |
unknown |
Het |
Asph |
A |
G |
4: 9,635,906 (GRCm39) |
L77S |
probably damaging |
Het |
Cd300ld |
T |
A |
11: 114,878,231 (GRCm39) |
T94S |
probably damaging |
Het |
Celf2 |
T |
C |
2: 6,558,743 (GRCm39) |
T382A |
probably benign |
Het |
Cfap54 |
C |
T |
10: 92,808,470 (GRCm39) |
A1402T |
possibly damaging |
Het |
Chrnb1 |
A |
T |
11: 69,686,476 (GRCm39) |
V48E |
probably benign |
Het |
Col6a5 |
T |
A |
9: 105,739,975 (GRCm39) |
E2548V |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,961,071 (GRCm39) |
D56G |
possibly damaging |
Het |
Dctn5 |
A |
G |
7: 121,734,275 (GRCm39) |
T40A |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,301,141 (GRCm39) |
N2323K |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,627,384 (GRCm39) |
Q4021R |
probably benign |
Het |
Dyrk1a |
T |
G |
16: 94,486,202 (GRCm39) |
|
probably null |
Het |
Ephb3 |
T |
A |
16: 21,039,610 (GRCm39) |
F454Y |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,647,864 (GRCm39) |
|
probably null |
Het |
Flg |
T |
C |
3: 93,184,923 (GRCm39) |
F15S |
probably damaging |
Het |
Fndc3b |
G |
A |
3: 27,555,651 (GRCm39) |
P301L |
probably damaging |
Het |
Fpr-rs7 |
C |
T |
17: 20,334,356 (GRCm39) |
G45R |
probably damaging |
Het |
Garin3 |
A |
G |
11: 46,295,715 (GRCm39) |
N29S |
probably damaging |
Het |
Gfi1 |
T |
A |
5: 107,867,991 (GRCm39) |
T360S |
probably damaging |
Het |
Grik4 |
T |
C |
9: 42,432,243 (GRCm39) |
H918R |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,241,119 (GRCm39) |
S385P |
possibly damaging |
Het |
Kdm5b |
A |
G |
1: 134,558,979 (GRCm39) |
D1501G |
probably damaging |
Het |
Map3k9 |
G |
T |
12: 81,819,587 (GRCm39) |
N222K |
probably damaging |
Het |
Me1 |
A |
G |
9: 86,561,926 (GRCm39) |
L53P |
possibly damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,195,520 (GRCm39) |
E748G |
possibly damaging |
Het |
Morc3 |
T |
A |
16: 93,644,268 (GRCm39) |
N186K |
probably benign |
Het |
Mtor |
A |
G |
4: 148,539,165 (GRCm39) |
T221A |
probably benign |
Het |
Muc6 |
A |
G |
7: 141,235,850 (GRCm39) |
|
probably null |
Het |
Myh8 |
C |
A |
11: 67,177,266 (GRCm39) |
T444N |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,140,143 (GRCm39) |
Y216H |
probably damaging |
Het |
Myom1 |
G |
A |
17: 71,416,782 (GRCm39) |
V1382M |
probably damaging |
Het |
Nbeal2 |
A |
T |
9: 110,460,801 (GRCm39) |
Y1718N |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,164,546 (GRCm39) |
S1168P |
probably damaging |
Het |
Or4c58 |
A |
G |
2: 89,675,011 (GRCm39) |
F102S |
probably damaging |
Het |
Or4d2 |
T |
A |
11: 87,784,511 (GRCm39) |
K80* |
probably null |
Het |
Or51f5 |
C |
T |
7: 102,424,136 (GRCm39) |
A135V |
probably benign |
Het |
Or5an9 |
T |
A |
19: 12,187,824 (GRCm39) |
I298N |
probably damaging |
Het |
Or6c8b |
G |
T |
10: 128,882,364 (GRCm39) |
D189E |
probably damaging |
Het |
Pcdha4 |
C |
A |
18: 37,087,890 (GRCm39) |
A691E |
probably benign |
Het |
Pde6a |
T |
G |
18: 61,364,438 (GRCm39) |
F165V |
probably damaging |
Het |
Ptpn14 |
A |
T |
1: 189,578,561 (GRCm39) |
M340L |
probably benign |
Het |
Rnasel |
G |
T |
1: 153,630,890 (GRCm39) |
E469* |
probably null |
Het |
Rsph3a |
T |
G |
17: 8,164,790 (GRCm39) |
L50R |
probably benign |
Het |
Rusc2 |
A |
G |
4: 43,423,975 (GRCm39) |
Y1043C |
probably damaging |
Het |
Serpinb6b |
A |
T |
13: 33,161,541 (GRCm39) |
K86* |
probably null |
Het |
Serpine1 |
T |
C |
5: 137,092,063 (GRCm39) |
T392A |
probably benign |
Het |
Shcbp1 |
A |
T |
8: 4,794,529 (GRCm39) |
D421E |
probably damaging |
Het |
Slc24a1 |
A |
G |
9: 64,855,863 (GRCm39) |
V348A |
unknown |
Het |
Slc26a7 |
A |
G |
4: 14,506,621 (GRCm39) |
F605L |
probably benign |
Het |
Slc66a1 |
A |
T |
4: 139,027,655 (GRCm39) |
L229Q |
probably damaging |
Het |
Spag17 |
A |
C |
3: 99,963,588 (GRCm39) |
E1102A |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,683,989 (GRCm39) |
V2390A |
probably benign |
Het |
Stk11 |
A |
G |
10: 79,961,883 (GRCm39) |
I35V |
probably benign |
Het |
Stk24 |
T |
C |
14: 121,531,693 (GRCm39) |
D321G |
possibly damaging |
Het |
Tbx4 |
A |
T |
11: 85,801,994 (GRCm39) |
N209I |
possibly damaging |
Het |
Tmem225 |
T |
C |
9: 40,060,681 (GRCm39) |
L80P |
probably damaging |
Het |
Tnfrsf4 |
C |
T |
4: 156,098,380 (GRCm39) |
T17I |
probably benign |
Het |
Traf3ip1 |
G |
A |
1: 91,429,037 (GRCm39) |
R268Q |
probably benign |
Het |
Trhde |
T |
A |
10: 114,636,497 (GRCm39) |
I237F |
probably benign |
Het |
Ugt2a1 |
A |
T |
5: 87,633,915 (GRCm39) |
W231R |
probably damaging |
Het |
Vash1 |
ACTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGC |
12: 86,726,831 (GRCm39) |
|
probably benign |
Het |
Vps16 |
T |
A |
2: 130,284,305 (GRCm39) |
D685E |
probably benign |
Het |
Washc4 |
A |
G |
10: 83,409,657 (GRCm39) |
D602G |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,211,816 (GRCm39) |
L377P |
possibly damaging |
Het |
Wdr81 |
T |
C |
11: 75,339,896 (GRCm39) |
E1364G |
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 |
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 |
|
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'- CCGGATACTTTAAGTTCTTCTCAAG -3'
(R):5'- CCTGACATTGACCTCTGACC -3'
Sequencing Primer
(F):5'- GTTCTTCTCAAGAGAAATCTTTTGC -3'
(R):5'- GACATTGACCTCTGACCTCTACATG -3'
|
Posted On |
2016-10-24 |