Incidental Mutation 'R9017:Kif20b'
| ID |
686106 |
| 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 |
068847-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R9017 (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 34927203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 822
(S822P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087341]
[ENSMUST00000223907]
[ENSMUST00000223937]
|
| AlphaFold |
Q80WE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087341
AA Change: S822P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: S822P
| 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: S782P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223937
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224728
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,211 (GRCm39) |
T629A |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,542,550 (GRCm39) |
V632A |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,987,487 (GRCm39) |
E2924K |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,786 (GRCm39) |
Y232C |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
| Atp8b4 |
A |
T |
2: 126,275,841 (GRCm39) |
N130K |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,584,256 (GRCm39) |
|
probably null |
Het |
| Cep70 |
T |
C |
9: 99,181,829 (GRCm39) |
I613T |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,651,883 (GRCm39) |
V3056I |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,386,282 (GRCm39) |
F143L |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,228,572 (GRCm39) |
R2172H |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,657,898 (GRCm39) |
E424G |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,880,477 (GRCm39) |
E237G |
probably benign |
Het |
| Ctnnd2 |
G |
A |
15: 30,881,316 (GRCm39) |
C732Y |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,299,411 (GRCm39) |
N264S |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,743,349 (GRCm39) |
S1064G |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,176,968 (GRCm39) |
Y360N |
probably damaging |
Het |
| E2f3 |
T |
G |
13: 30,097,478 (GRCm39) |
D295A |
probably damaging |
Het |
| Eef2 |
T |
C |
10: 81,015,487 (GRCm39) |
L336P |
possibly damaging |
Het |
| Fanca |
A |
G |
8: 124,035,307 (GRCm39) |
S213P |
possibly damaging |
Het |
| Fpgt |
A |
T |
3: 154,792,903 (GRCm39) |
S375T |
probably benign |
Het |
| Gad1 |
G |
A |
2: 70,416,206 (GRCm39) |
V222I |
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,568,858 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Gpr55 |
T |
C |
1: 85,868,624 (GRCm39) |
N319S |
probably benign |
Het |
| Grik2 |
T |
A |
10: 48,989,555 (GRCm39) |
I825F |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,731,482 (GRCm39) |
S230P |
unknown |
Het |
| Kansl3 |
T |
C |
1: 36,393,861 (GRCm39) |
I222V |
probably benign |
Het |
| Kremen2 |
T |
A |
17: 23,964,737 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
G |
T |
15: 101,651,100 (GRCm39) |
R128S |
possibly damaging |
Het |
| Lrp4 |
A |
T |
2: 91,324,397 (GRCm39) |
N1244I |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,244 (GRCm39) |
S600G |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,216,711 (GRCm39) |
C167S |
probably damaging |
Het |
| Mrps17 |
T |
C |
5: 129,793,857 (GRCm39) |
V17A |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,614,840 (GRCm39) |
L179Q |
unknown |
Het |
| Or13g1 |
A |
T |
7: 85,955,957 (GRCm39) |
Y121* |
probably null |
Het |
| Or13p8 |
T |
A |
4: 118,583,565 (GRCm39) |
F40L |
probably benign |
Het |
| Or4c29 |
G |
T |
2: 88,739,951 (GRCm39) |
T262K |
probably damaging |
Het |
| Otop2 |
T |
C |
11: 115,214,431 (GRCm39) |
F63L |
probably benign |
Het |
| Pde3b |
C |
T |
7: 114,015,695 (GRCm39) |
Q304* |
probably null |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
A |
G |
8: 106,105,332 (GRCm39) |
E599G |
possibly damaging |
Het |
| Ppargc1a |
C |
A |
5: 51,630,251 (GRCm39) |
R622L |
unknown |
Het |
| Ppip5k2 |
A |
G |
1: 97,655,139 (GRCm39) |
L879P |
probably damaging |
Het |
| Prepl |
C |
T |
17: 85,376,366 (GRCm39) |
V563M |
possibly damaging |
Het |
| Prom1 |
G |
T |
5: 44,204,870 (GRCm39) |
D201E |
probably damaging |
Het |
| Psmd1 |
T |
A |
1: 86,054,231 (GRCm39) |
D723E |
probably damaging |
Het |
| Sall2 |
A |
T |
14: 52,550,719 (GRCm39) |
N825K |
possibly damaging |
Het |
| Sds |
A |
T |
5: 120,618,655 (GRCm39) |
M70L |
probably benign |
Het |
| Sema4c |
C |
T |
1: 36,592,079 (GRCm39) |
R256H |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,070,545 (GRCm39) |
Y100C |
probably damaging |
Het |
| Slc13a5 |
T |
A |
11: 72,138,588 (GRCm39) |
I452F |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,062,395 (GRCm39) |
I162V |
possibly damaging |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tenm3 |
T |
A |
8: 48,707,668 (GRCm39) |
N1710I |
probably damaging |
Het |
| Tmem115 |
T |
A |
9: 107,411,880 (GRCm39) |
M68K |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 127,866,936 (GRCm39) |
I655V |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,346,316 (GRCm39) |
I69V |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Trim9 |
A |
G |
12: 70,314,013 (GRCm39) |
M544T |
probably benign |
Het |
| Ttll3 |
G |
A |
6: 113,389,850 (GRCm39) |
R745H |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,737,931 (GRCm39) |
L4249I |
unknown |
Het |
| Unc79 |
G |
A |
12: 103,074,874 (GRCm39) |
|
probably null |
Het |
| Vmn1r196 |
T |
C |
13: 22,478,254 (GRCm39) |
C298R |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,081 (GRCm39) |
I255V |
probably benign |
Het |
| Zfp853 |
A |
G |
5: 143,274,243 (GRCm39) |
L474P |
unknown |
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 |
|
|
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 |
|
|
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'- TCAACTCTGACCCAGGTCTATAC -3'
(R):5'- GCCTGGATTTGCTCTACATCTG -3'
Sequencing Primer
(F):5'- TCTGACCCAGGTCTATACTTTTTAC -3'
(R):5'- CAGGGATGAGTTCTTTTCTTCAAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation