Incidental Mutation 'R1473:Kif20b'
ID |
165966 |
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 |
039526-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R1473 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
34899761-34953145 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34951896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1685
(S1685T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153034
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
|
AlphaFold |
Q80WE4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087341
AA Change: S1725T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000084599 Gene: ENSMUSG00000024795 AA Change: S1725T
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 |
possibly damaging
Transcript: ENSMUST00000223907
AA Change: S1685T
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224381
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
Predicted Effect |
unknown
Transcript: ENSMUST00000225151
AA Change: S86T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225625
|
Meta Mutation Damage Score |
0.0769 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
98% (88/90) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
T |
C |
19: 57,056,668 (GRCm39) |
D342G |
probably damaging |
Het |
Acad8 |
T |
C |
9: 26,890,337 (GRCm39) |
T293A |
probably benign |
Het |
Adamts13 |
C |
A |
2: 26,871,765 (GRCm39) |
Y310* |
probably null |
Het |
Adcy6 |
T |
A |
15: 98,490,624 (GRCm39) |
Y1102F |
probably damaging |
Het |
Ahctf1 |
G |
A |
1: 179,603,673 (GRCm39) |
T791M |
probably benign |
Het |
Ahctf1 |
A |
G |
1: 179,626,844 (GRCm39) |
V18A |
probably damaging |
Het |
Ahcyl |
T |
A |
16: 45,975,182 (GRCm39) |
E65V |
probably damaging |
Het |
Ampd3 |
T |
G |
7: 110,404,142 (GRCm39) |
S564R |
probably damaging |
Het |
Anapc1 |
A |
T |
2: 128,459,617 (GRCm39) |
I1814K |
possibly damaging |
Het |
Arl4c |
A |
T |
1: 88,629,331 (GRCm39) |
L19Q |
probably damaging |
Het |
Atp6v0e2 |
T |
C |
6: 48,516,198 (GRCm39) |
Y49H |
probably damaging |
Het |
Ccdc121rt3 |
T |
C |
5: 112,502,415 (GRCm39) |
T430A |
probably benign |
Het |
Ccdc24 |
G |
T |
4: 117,727,101 (GRCm39) |
|
probably benign |
Het |
Ceacam23 |
A |
G |
7: 17,639,016 (GRCm39) |
|
noncoding transcript |
Het |
Clcn6 |
A |
C |
4: 148,108,613 (GRCm39) |
F139V |
possibly damaging |
Het |
Col2a1 |
A |
G |
15: 97,880,789 (GRCm39) |
|
probably benign |
Het |
Crip2 |
T |
A |
12: 113,107,120 (GRCm39) |
C29S |
probably damaging |
Het |
Cyp2a4 |
A |
C |
7: 26,014,188 (GRCm39) |
N455T |
probably benign |
Het |
Dhcr7 |
T |
C |
7: 143,400,805 (GRCm39) |
Y323H |
probably damaging |
Het |
Dhcr7 |
A |
G |
7: 143,395,105 (GRCm39) |
D113G |
probably damaging |
Het |
Dnah7a |
A |
C |
1: 53,535,173 (GRCm39) |
S2696A |
probably benign |
Het |
Dnajc12 |
A |
G |
10: 63,233,023 (GRCm39) |
T55A |
probably benign |
Het |
Drosha |
G |
A |
15: 12,912,606 (GRCm39) |
E1075K |
probably benign |
Het |
Duox2 |
A |
G |
2: 122,117,602 (GRCm39) |
S911P |
possibly damaging |
Het |
Ephb2 |
G |
A |
4: 136,421,369 (GRCm39) |
A327V |
possibly damaging |
Het |
Espl1 |
C |
T |
15: 102,228,878 (GRCm39) |
T1711I |
possibly damaging |
Het |
Fmnl2 |
A |
G |
2: 52,748,219 (GRCm39) |
K22R |
possibly damaging |
Het |
Fzd6 |
T |
C |
15: 38,894,358 (GRCm39) |
F175L |
probably damaging |
Het |
Gm6526 |
A |
G |
14: 43,986,303 (GRCm39) |
I76M |
probably damaging |
Het |
Gm9881 |
A |
T |
16: 90,967,623 (GRCm39) |
F34I |
unknown |
Het |
Gm9892 |
T |
C |
8: 52,649,649 (GRCm39) |
D148G |
possibly damaging |
Het |
Grb10 |
C |
T |
11: 11,884,249 (GRCm39) |
V486I |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
H2bc18 |
G |
T |
3: 96,177,388 (GRCm39) |
L107F |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,957,690 (GRCm39) |
H108R |
possibly damaging |
Het |
Hmcn1 |
G |
A |
1: 150,648,303 (GRCm39) |
T661I |
probably benign |
Het |
Icam1 |
T |
A |
9: 20,939,172 (GRCm39) |
I515N |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,523,220 (GRCm39) |
R497G |
possibly damaging |
Het |
Igsf10 |
A |
T |
3: 59,226,188 (GRCm39) |
V2495E |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,383,759 (GRCm39) |
M1102V |
probably benign |
Het |
Itgb4 |
A |
T |
11: 115,874,873 (GRCm39) |
N410I |
probably benign |
Het |
Jup |
T |
C |
11: 100,270,427 (GRCm39) |
H360R |
possibly damaging |
Het |
Lins1 |
T |
C |
7: 66,361,794 (GRCm39) |
|
probably null |
Het |
Lrig1 |
T |
A |
6: 94,584,294 (GRCm39) |
T917S |
probably benign |
Het |
Mast2 |
A |
G |
4: 116,169,152 (GRCm39) |
S814P |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,909,027 (GRCm39) |
T483A |
probably damaging |
Het |
Mcpt1 |
T |
C |
14: 56,256,990 (GRCm39) |
M176T |
probably benign |
Het |
Mettl22 |
A |
G |
16: 8,291,825 (GRCm39) |
Q38R |
probably damaging |
Het |
Mrm2 |
T |
C |
5: 140,314,443 (GRCm39) |
T131A |
probably benign |
Het |
Mtcl2 |
A |
T |
2: 156,862,368 (GRCm39) |
Y1520* |
probably null |
Het |
Nde1 |
T |
G |
16: 14,003,728 (GRCm39) |
F71V |
probably benign |
Het |
Nxn |
C |
T |
11: 76,154,013 (GRCm39) |
G274D |
possibly damaging |
Het |
Or4c123 |
A |
T |
2: 89,127,250 (GRCm39) |
Y121* |
probably null |
Het |
Or5h17 |
A |
T |
16: 58,820,275 (GRCm39) |
T76S |
probably benign |
Het |
Or6k14 |
G |
T |
1: 173,927,315 (GRCm39) |
C97F |
probably damaging |
Het |
Or6p1 |
T |
A |
1: 174,258,209 (GRCm39) |
W72R |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,667,175 (GRCm39) |
|
probably null |
Het |
Otud7a |
C |
A |
7: 63,404,377 (GRCm39) |
|
probably benign |
Het |
Phf3 |
G |
A |
1: 30,845,021 (GRCm39) |
L1313F |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,593,207 (GRCm39) |
D1635E |
probably benign |
Het |
Plpp1 |
A |
G |
13: 112,996,198 (GRCm39) |
H171R |
probably damaging |
Het |
Pofut1 |
A |
G |
2: 153,103,166 (GRCm39) |
M172V |
probably damaging |
Het |
Prmt5 |
A |
G |
14: 54,746,372 (GRCm39) |
F580L |
probably damaging |
Het |
Rab11fip3 |
A |
T |
17: 26,210,296 (GRCm39) |
L987Q |
probably damaging |
Het |
Retnlb |
T |
A |
16: 48,639,028 (GRCm39) |
C76* |
probably null |
Het |
Rnf38 |
T |
C |
4: 44,131,584 (GRCm39) |
N399S |
probably benign |
Het |
Sbk1 |
A |
G |
7: 125,891,424 (GRCm39) |
E286G |
possibly damaging |
Het |
Scin |
T |
A |
12: 40,127,501 (GRCm39) |
T430S |
probably benign |
Het |
Sgsm1 |
T |
A |
5: 113,411,123 (GRCm39) |
T868S |
probably benign |
Het |
Sipa1l1 |
G |
A |
12: 82,387,885 (GRCm39) |
R37H |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,668,832 (GRCm39) |
|
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
Sult1d1 |
A |
G |
5: 87,712,598 (GRCm39) |
M82T |
probably benign |
Het |
Tat |
T |
C |
8: 110,723,550 (GRCm39) |
L346P |
probably damaging |
Het |
Tenm3 |
C |
A |
8: 48,763,660 (GRCm39) |
G789V |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,338,621 (GRCm39) |
S1203N |
probably benign |
Het |
Tmem191 |
G |
A |
16: 17,095,826 (GRCm39) |
|
probably null |
Het |
Tmem268 |
A |
G |
4: 63,498,575 (GRCm39) |
T239A |
probably damaging |
Het |
Tmem82 |
A |
C |
4: 141,343,589 (GRCm39) |
L227R |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,557,376 (GRCm39) |
I29906N |
probably damaging |
Het |
Txndc15 |
T |
C |
13: 55,869,387 (GRCm39) |
|
probably benign |
Het |
Ubqln4 |
A |
G |
3: 88,473,152 (GRCm39) |
I536V |
probably benign |
Het |
Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
Vmn2r102 |
A |
T |
17: 19,914,843 (GRCm39) |
I803F |
probably benign |
Het |
Vmn2r6 |
G |
T |
3: 64,445,579 (GRCm39) |
Y715* |
probably null |
Het |
Vmn2r74 |
A |
T |
7: 85,610,618 (GRCm39) |
C25S |
probably damaging |
Het |
Wdr38 |
A |
G |
2: 38,890,991 (GRCm39) |
T261A |
probably benign |
Het |
Zfp653 |
T |
C |
9: 21,969,516 (GRCm39) |
E250G |
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 |
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 |
|
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'- AGCTGCTAGAGTCTCAGTGATACTTTGT -3'
(R):5'- GGGAAACTACACTACTCGGATGGGAA -3'
Sequencing Primer
(F):5'- TCTTGTCACCATTTGTATAGTGC -3'
(R):5'- agcggttagaagcacgg -3'
|
Posted On |
2014-03-28 |