Incidental Mutation 'R6019:Kif20b'
| ID |
478837 |
| 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 |
044193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R6019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34927864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1002
(V1002A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000223937]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087341
AA Change: V1042A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: V1042A
| 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: V1002A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223937
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
96% (81/84) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
C |
T |
16: 20,371,201 (GRCm39) |
H436Y |
possibly damaging |
Het |
| Acad10 |
A |
T |
5: 121,772,864 (GRCm39) |
H472Q |
possibly damaging |
Het |
| Ano8 |
G |
A |
8: 71,935,024 (GRCm39) |
R393C |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,736,646 (GRCm39) |
V163E |
probably damaging |
Het |
| AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Cacng5 |
T |
C |
11: 107,775,214 (GRCm39) |
M52V |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,031,495 (GRCm39) |
C1249R |
probably damaging |
Het |
| Cenpj |
C |
T |
14: 56,772,272 (GRCm39) |
S1086N |
probably benign |
Het |
| Chi3l1 |
T |
C |
1: 134,117,310 (GRCm39) |
F367S |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,787,868 (GRCm39) |
I610N |
possibly damaging |
Het |
| Cpa6 |
T |
C |
1: 10,665,868 (GRCm39) |
K57E |
possibly damaging |
Het |
| D5Ertd579e |
C |
T |
5: 36,787,036 (GRCm39) |
A111T |
possibly damaging |
Het |
| Dgat2 |
A |
G |
7: 98,803,838 (GRCm39) |
M361T |
probably benign |
Het |
| Dnm3 |
G |
T |
1: 161,962,070 (GRCm39) |
F46L |
probably damaging |
Het |
| Dph7 |
T |
A |
2: 24,853,552 (GRCm39) |
C122* |
probably null |
Het |
| Dspp |
A |
T |
5: 104,325,905 (GRCm39) |
D756V |
unknown |
Het |
| Efcab3 |
T |
C |
11: 104,933,728 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
A |
15: 81,525,583 (GRCm39) |
M1469K |
unknown |
Het |
| Fsip2 |
T |
C |
2: 82,818,283 (GRCm39) |
I4672T |
possibly damaging |
Het |
| Gapdh |
A |
T |
6: 125,139,996 (GRCm39) |
L67* |
probably null |
Het |
| Gpr75 |
A |
G |
11: 30,841,640 (GRCm39) |
R182G |
probably benign |
Het |
| Gsr |
G |
T |
8: 34,183,835 (GRCm39) |
A366S |
probably damaging |
Het |
| Gypc |
A |
G |
18: 32,663,248 (GRCm39) |
I33T |
probably damaging |
Het |
| Hapln1 |
A |
G |
13: 89,756,219 (GRCm39) |
D341G |
probably benign |
Het |
| Hnrnpd |
A |
G |
5: 100,115,095 (GRCm39) |
S148P |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,293,252 (GRCm39) |
T3450S |
probably benign |
Het |
| Kif5c |
T |
C |
2: 49,625,521 (GRCm39) |
V597A |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,900,579 (GRCm39) |
T226A |
probably benign |
Het |
| Krt75 |
C |
A |
15: 101,482,158 (GRCm39) |
V37L |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,571,143 (GRCm39) |
I668V |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,192,982 (GRCm39) |
A480V |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,366,821 (GRCm39) |
D485V |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,347,422 (GRCm39) |
H3091R |
unknown |
Het |
| Msi1 |
A |
G |
5: 115,589,550 (GRCm39) |
Y361C |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,536,077 (GRCm39) |
N546K |
probably benign |
Het |
| Mup17 |
T |
A |
4: 61,511,936 (GRCm39) |
T113S |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,023,938 (GRCm39) |
D1479V |
probably damaging |
Het |
| Ncor1 |
C |
T |
11: 62,263,987 (GRCm39) |
E198K |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,501 (GRCm39) |
V722A |
probably benign |
Het |
| Or13a28 |
T |
C |
7: 140,217,925 (GRCm39) |
F104L |
probably benign |
Het |
| Or51f23 |
C |
T |
7: 102,453,491 (GRCm39) |
R269* |
probably null |
Het |
| Or5ac24 |
C |
T |
16: 59,165,798 (GRCm39) |
D89N |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,938,374 (GRCm39) |
M2028V |
probably benign |
Het |
| Paox |
T |
A |
7: 139,711,655 (GRCm39) |
V169E |
probably damaging |
Het |
| Pcsk9 |
T |
G |
4: 106,314,073 (GRCm39) |
D174A |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,427,966 (GRCm39) |
E41G |
possibly damaging |
Het |
| Pip4k2c |
A |
G |
10: 127,034,943 (GRCm39) |
I419T |
probably damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,624,715 (GRCm39) |
E1186* |
probably null |
Het |
| Pole |
C |
A |
5: 110,472,380 (GRCm39) |
P1548T |
probably benign |
Het |
| Pole |
C |
T |
5: 110,472,381 (GRCm39) |
P1548L |
probably benign |
Het |
| Polq |
A |
G |
16: 36,882,126 (GRCm39) |
E1430G |
probably damaging |
Het |
| Potefam3c |
A |
T |
8: 69,881,966 (GRCm39) |
C337S |
probably benign |
Het |
| Pramel47 |
G |
A |
5: 95,488,072 (GRCm39) |
S2N |
probably damaging |
Het |
| Ptgr2 |
T |
C |
12: 84,344,920 (GRCm39) |
S98P |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,730,827 (GRCm39) |
Y1903H |
possibly damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,122,376 (GRCm39) |
D338G |
probably damaging |
Het |
| Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
| Rnase13 |
C |
T |
14: 52,159,860 (GRCm39) |
C93Y |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| S100z |
T |
A |
13: 95,613,934 (GRCm39) |
M59L |
probably benign |
Het |
| Ska1 |
T |
A |
18: 74,332,992 (GRCm39) |
D142V |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,847,931 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
C |
6: 28,880,233 (GRCm39) |
V669A |
probably benign |
Het |
| Snrpd3 |
A |
T |
10: 75,368,029 (GRCm39) |
T49S |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,264,549 (GRCm39) |
L856P |
possibly damaging |
Het |
| Srek1ip1 |
T |
A |
13: 104,970,830 (GRCm39) |
|
probably null |
Het |
| Ssrp1 |
T |
C |
2: 84,875,796 (GRCm39) |
S552P |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,838,886 (GRCm39) |
V60A |
probably benign |
Het |
| Stard9 |
GCCC |
GCC |
2: 120,524,196 (GRCm39) |
|
probably null |
Het |
| Tll1 |
A |
C |
8: 64,494,525 (GRCm39) |
H743Q |
possibly damaging |
Het |
| Tpo |
G |
T |
12: 30,144,980 (GRCm39) |
R590S |
possibly damaging |
Het |
| Trbv12-1 |
A |
T |
6: 41,090,780 (GRCm39) |
T51S |
probably benign |
Het |
| Trbv30 |
C |
T |
6: 41,258,708 (GRCm39) |
A40V |
probably benign |
Het |
| Tulp4 |
T |
A |
17: 6,283,490 (GRCm39) |
V1173E |
possibly damaging |
Het |
| Upk1a |
A |
T |
7: 30,311,810 (GRCm39) |
|
probably null |
Het |
| Vinac1 |
T |
C |
2: 128,879,610 (GRCm39) |
Q772R |
probably benign |
Het |
| Vmn1r199 |
A |
G |
13: 22,566,769 (GRCm39) |
D21G |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,643 (GRCm39) |
T317A |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 101,997,289 (GRCm39) |
V3112A |
probably damaging |
Het |
| Zbtb8os |
T |
C |
4: 129,234,542 (GRCm39) |
V40A |
possibly damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,132 (GRCm39) |
H99L |
probably damaging |
Het |
| Zwint |
A |
G |
10: 72,492,685 (GRCm39) |
K108E |
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 |
|
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'- GTGGTGACTTCTCAAGTACGTG -3'
(R):5'- TTTGCCTTGTAGCAGGTAACATC -3'
Sequencing Primer
(F):5'- GACTTCTCAAGTACGTGGGTTAAAG -3'
(R):5'- TAACATCCTGGGAAAGCTCTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation