Incidental Mutation 'R0081:Kif16b'
ID |
44276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif16b
|
Ensembl Gene |
ENSMUSG00000038844 |
Gene Name |
kinesin family member 16B |
Synonyms |
N-3 kinesin, 8430434E15Rik |
MMRRC Submission |
038368-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0081 (G1)
|
Quality Score |
83 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 142549346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154926
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000211861]
[ENSMUST00000230763]
|
AlphaFold |
B1AVY7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043589
|
SMART Domains |
Protein: ENSMUSP00000042551 Gene: ENSMUSG00000038844
Domain | Start | End | E-Value | Type |
KISc
|
1 |
366 |
4.87e-173 |
SMART |
FHA
|
477 |
529 |
1.43e-1 |
SMART |
coiled coil region
|
597 |
809 |
N/A |
INTRINSIC |
coiled coil region
|
835 |
858 |
N/A |
INTRINSIC |
coiled coil region
|
941 |
1022 |
N/A |
INTRINSIC |
PX
|
1179 |
1281 |
1.58e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211861
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212106
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230763
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.2%
- 10x: 88.5%
- 20x: 63.6%
|
Validation Efficiency |
94% (159/169) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] PHENOTYPE: Chimera embryos containing a knock-out allele and derived from tetraploid rescue exhibit lethal growth arrest at the blastocyst stage with abnormal development of the primitive endoderm, epiblast epithelium, and basement membrane. [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 |
Adam5 |
T |
C |
8: 25,271,703 (GRCm39) |
D485G |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,036,137 (GRCm39) |
|
probably null |
Het |
Adgrd1 |
A |
T |
5: 129,255,146 (GRCm39) |
I598F |
probably damaging |
Het |
Adh5 |
A |
G |
3: 138,157,174 (GRCm39) |
D245G |
probably benign |
Het |
Adra2b |
T |
C |
2: 127,206,212 (GRCm39) |
V238A |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,606,258 (GRCm39) |
V1188I |
possibly damaging |
Het |
Asap1 |
C |
T |
15: 63,971,413 (GRCm39) |
G905D |
probably damaging |
Het |
AW554918 |
T |
C |
18: 25,477,959 (GRCm39) |
V428A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,950,436 (GRCm39) |
S3226T |
probably benign |
Het |
Cdh17 |
A |
T |
4: 11,785,280 (GRCm39) |
|
probably benign |
Het |
Cyfip2 |
A |
T |
11: 46,144,825 (GRCm39) |
Y676* |
probably null |
Het |
Dcaf17 |
T |
A |
2: 70,908,812 (GRCm39) |
|
probably benign |
Het |
Dclre1a |
A |
G |
19: 56,531,139 (GRCm39) |
F736L |
probably damaging |
Het |
Ddx41 |
A |
T |
13: 55,683,193 (GRCm39) |
H171Q |
possibly damaging |
Het |
Dennd5b |
G |
T |
6: 148,895,257 (GRCm39) |
Q1258K |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,584,295 (GRCm39) |
D137G |
probably damaging |
Het |
Dpyd |
G |
A |
3: 118,737,904 (GRCm39) |
V482I |
probably benign |
Het |
Erich6 |
A |
T |
3: 58,543,547 (GRCm39) |
|
probably benign |
Het |
Fam193b |
A |
G |
13: 55,702,024 (GRCm39) |
|
probably benign |
Het |
Foxp2 |
T |
C |
6: 15,405,643 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
T |
C |
2: 4,577,252 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
A |
G |
11: 83,313,693 (GRCm39) |
S540P |
possibly damaging |
Het |
Glis2 |
T |
C |
16: 4,431,517 (GRCm39) |
V348A |
probably benign |
Het |
Gm14443 |
C |
A |
2: 175,011,729 (GRCm39) |
G239V |
probably damaging |
Het |
Gpr158 |
T |
C |
2: 21,831,528 (GRCm39) |
V876A |
probably damaging |
Het |
H1f8 |
A |
G |
6: 115,926,942 (GRCm39) |
E273G |
probably benign |
Het |
Hadh |
C |
T |
3: 131,029,285 (GRCm39) |
D245N |
probably damaging |
Het |
Hk2 |
A |
T |
6: 82,711,957 (GRCm39) |
|
probably benign |
Het |
Ice1 |
A |
T |
13: 70,767,163 (GRCm39) |
Y108* |
probably null |
Het |
Il10ra |
T |
G |
9: 45,167,247 (GRCm39) |
M435L |
probably benign |
Het |
Inpp5k |
GT |
G |
11: 75,521,973 (GRCm39) |
|
probably null |
Het |
Kank4 |
G |
T |
4: 98,666,567 (GRCm39) |
P627T |
probably benign |
Het |
Lipn |
A |
G |
19: 34,054,376 (GRCm39) |
I205V |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Myh1 |
T |
C |
11: 67,106,683 (GRCm39) |
M1255T |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Myo1d |
T |
G |
11: 80,448,349 (GRCm39) |
K925N |
probably benign |
Het |
Myoz1 |
T |
A |
14: 20,699,622 (GRCm39) |
M239L |
probably benign |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nf1 |
C |
A |
11: 79,344,805 (GRCm39) |
|
probably benign |
Het |
Npepl1 |
C |
T |
2: 173,957,879 (GRCm39) |
P239S |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,170,506 (GRCm39) |
K131R |
probably benign |
Het |
Or12k5 |
G |
A |
2: 36,895,462 (GRCm39) |
L55F |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,935 (GRCm39) |
F73L |
possibly damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,893 (GRCm39) |
Y94* |
probably null |
Het |
Or1j20 |
T |
C |
2: 36,760,022 (GRCm39) |
L148S |
possibly damaging |
Het |
Or4c10 |
T |
A |
2: 89,760,423 (GRCm39) |
I90K |
possibly damaging |
Het |
Or4f7 |
A |
C |
2: 111,644,213 (GRCm39) |
I286S |
probably damaging |
Het |
Or5p52 |
C |
T |
7: 107,502,212 (GRCm39) |
T96I |
probably benign |
Het |
Or6c202 |
C |
T |
10: 128,996,707 (GRCm39) |
D49N |
possibly damaging |
Het |
Pde7a |
T |
C |
3: 19,295,697 (GRCm39) |
|
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,903,519 (GRCm39) |
C591R |
probably benign |
Het |
Pkn2 |
T |
G |
3: 142,559,343 (GRCm39) |
K61Q |
probably damaging |
Het |
Ppfia1 |
C |
A |
7: 144,058,711 (GRCm39) |
G722C |
probably damaging |
Het |
Ppp1cb |
T |
C |
5: 32,644,958 (GRCm39) |
V263A |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,895,567 (GRCm39) |
N440K |
possibly damaging |
Het |
Rbm34 |
T |
A |
8: 127,676,234 (GRCm39) |
K340N |
probably damaging |
Het |
Samd3 |
T |
C |
10: 26,147,399 (GRCm39) |
|
probably benign |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sigirr |
T |
C |
7: 140,671,285 (GRCm39) |
D399G |
probably damaging |
Het |
Slc17a7 |
A |
G |
7: 44,824,371 (GRCm39) |
E554G |
probably benign |
Het |
Smc3 |
A |
G |
19: 53,589,993 (GRCm39) |
|
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,819,703 (GRCm39) |
Y68H |
probably benign |
Het |
Tespa1 |
T |
A |
10: 130,196,719 (GRCm39) |
L219Q |
probably damaging |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
A |
G |
15: 85,740,673 (GRCm39) |
S436G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,581,423 (GRCm39) |
I23157F |
probably damaging |
Het |
Ubxn2b |
T |
A |
4: 6,203,875 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,401,044 (GRCm39) |
E125G |
probably benign |
Het |
Vmn2r78 |
A |
T |
7: 86,572,235 (GRCm39) |
D532V |
probably benign |
Het |
Vwa8 |
C |
A |
14: 79,320,222 (GRCm39) |
L1078I |
probably benign |
Het |
Vwce |
A |
T |
19: 10,641,453 (GRCm39) |
|
probably null |
Het |
Zpr1 |
A |
G |
9: 46,190,995 (GRCm39) |
D300G |
probably damaging |
Het |
|
Other mutations in Kif16b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00466:Kif16b
|
APN |
2 |
142,689,955 (GRCm39) |
nonsense |
probably null |
|
IGL00499:Kif16b
|
APN |
2 |
142,699,244 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00913:Kif16b
|
APN |
2 |
142,545,927 (GRCm39) |
nonsense |
probably null |
|
IGL00971:Kif16b
|
APN |
2 |
142,553,664 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01712:Kif16b
|
APN |
2 |
142,490,391 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01965:Kif16b
|
APN |
2 |
142,690,325 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02428:Kif16b
|
APN |
2 |
142,514,280 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02576:Kif16b
|
APN |
2 |
142,704,465 (GRCm39) |
splice site |
probably benign |
|
IGL02884:Kif16b
|
APN |
2 |
142,544,534 (GRCm39) |
splice site |
probably benign |
|
IGL03065:Kif16b
|
APN |
2 |
142,461,833 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03103:Kif16b
|
APN |
2 |
142,704,408 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03403:Kif16b
|
APN |
2 |
142,553,789 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02835:Kif16b
|
UTSW |
2 |
142,554,133 (GRCm39) |
missense |
probably benign |
0.00 |
R0058:Kif16b
|
UTSW |
2 |
142,699,225 (GRCm39) |
splice site |
probably null |
|
R0058:Kif16b
|
UTSW |
2 |
142,699,225 (GRCm39) |
splice site |
probably null |
|
R0123:Kif16b
|
UTSW |
2 |
142,514,295 (GRCm39) |
missense |
probably benign |
|
R0134:Kif16b
|
UTSW |
2 |
142,514,295 (GRCm39) |
missense |
probably benign |
|
R0388:Kif16b
|
UTSW |
2 |
142,582,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R0396:Kif16b
|
UTSW |
2 |
142,695,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R0502:Kif16b
|
UTSW |
2 |
142,554,075 (GRCm39) |
missense |
probably benign |
0.00 |
R1027:Kif16b
|
UTSW |
2 |
142,696,458 (GRCm39) |
splice site |
probably benign |
|
R1674:Kif16b
|
UTSW |
2 |
142,554,873 (GRCm39) |
nonsense |
probably null |
|
R1752:Kif16b
|
UTSW |
2 |
142,532,586 (GRCm39) |
missense |
probably benign |
0.01 |
R2154:Kif16b
|
UTSW |
2 |
142,532,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R2262:Kif16b
|
UTSW |
2 |
142,582,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R2401:Kif16b
|
UTSW |
2 |
142,598,042 (GRCm39) |
missense |
probably benign |
0.04 |
R3951:Kif16b
|
UTSW |
2 |
142,549,279 (GRCm39) |
missense |
probably benign |
0.01 |
R4161:Kif16b
|
UTSW |
2 |
142,549,324 (GRCm39) |
missense |
probably benign |
0.00 |
R4697:Kif16b
|
UTSW |
2 |
142,532,614 (GRCm39) |
missense |
probably benign |
0.09 |
R4747:Kif16b
|
UTSW |
2 |
142,699,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R4808:Kif16b
|
UTSW |
2 |
142,699,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R4878:Kif16b
|
UTSW |
2 |
142,689,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R5068:Kif16b
|
UTSW |
2 |
142,553,627 (GRCm39) |
missense |
probably benign |
|
R5120:Kif16b
|
UTSW |
2 |
142,690,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R5358:Kif16b
|
UTSW |
2 |
142,582,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R5821:Kif16b
|
UTSW |
2 |
142,544,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R5833:Kif16b
|
UTSW |
2 |
142,549,287 (GRCm39) |
missense |
probably benign |
|
R5882:Kif16b
|
UTSW |
2 |
142,549,178 (GRCm39) |
critical splice donor site |
probably null |
|
R5974:Kif16b
|
UTSW |
2 |
142,699,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R6043:Kif16b
|
UTSW |
2 |
142,553,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R6230:Kif16b
|
UTSW |
2 |
142,691,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R6373:Kif16b
|
UTSW |
2 |
142,541,618 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6472:Kif16b
|
UTSW |
2 |
142,541,868 (GRCm39) |
intron |
probably benign |
|
R6622:Kif16b
|
UTSW |
2 |
142,554,362 (GRCm39) |
missense |
probably benign |
0.01 |
R6654:Kif16b
|
UTSW |
2 |
142,543,197 (GRCm39) |
intron |
probably benign |
|
R6912:Kif16b
|
UTSW |
2 |
142,542,019 (GRCm39) |
intron |
probably benign |
|
R7003:Kif16b
|
UTSW |
2 |
142,600,749 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7265:Kif16b
|
UTSW |
2 |
142,556,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R7307:Kif16b
|
UTSW |
2 |
142,554,851 (GRCm39) |
missense |
probably benign |
0.00 |
R7376:Kif16b
|
UTSW |
2 |
142,553,792 (GRCm39) |
missense |
probably damaging |
0.99 |
R7381:Kif16b
|
UTSW |
2 |
142,699,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R7558:Kif16b
|
UTSW |
2 |
142,600,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R7681:Kif16b
|
UTSW |
2 |
142,598,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R7896:Kif16b
|
UTSW |
2 |
142,675,995 (GRCm39) |
critical splice donor site |
probably null |
|
R7956:Kif16b
|
UTSW |
2 |
142,704,390 (GRCm39) |
missense |
probably benign |
0.00 |
R8053:Kif16b
|
UTSW |
2 |
142,695,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R8056:Kif16b
|
UTSW |
2 |
142,554,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R8139:Kif16b
|
UTSW |
2 |
142,743,285 (GRCm39) |
missense |
probably benign |
0.00 |
R8182:Kif16b
|
UTSW |
2 |
142,554,819 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8224:Kif16b
|
UTSW |
2 |
142,676,008 (GRCm39) |
missense |
probably benign |
0.03 |
R8357:Kif16b
|
UTSW |
2 |
142,553,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R8359:Kif16b
|
UTSW |
2 |
142,553,777 (GRCm39) |
missense |
probably benign |
0.05 |
R8360:Kif16b
|
UTSW |
2 |
142,553,777 (GRCm39) |
missense |
probably benign |
0.05 |
R8369:Kif16b
|
UTSW |
2 |
142,553,777 (GRCm39) |
missense |
probably benign |
0.05 |
R8385:Kif16b
|
UTSW |
2 |
142,554,258 (GRCm39) |
missense |
probably benign |
0.09 |
R8457:Kif16b
|
UTSW |
2 |
142,553,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R8720:Kif16b
|
UTSW |
2 |
142,691,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R8898:Kif16b
|
UTSW |
2 |
142,554,899 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8987:Kif16b
|
UTSW |
2 |
142,743,278 (GRCm39) |
missense |
probably benign |
0.00 |
R8987:Kif16b
|
UTSW |
2 |
142,691,783 (GRCm39) |
critical splice donor site |
probably null |
|
R9022:Kif16b
|
UTSW |
2 |
142,554,537 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9040:Kif16b
|
UTSW |
2 |
142,691,798 (GRCm39) |
missense |
probably benign |
0.02 |
R9044:Kif16b
|
UTSW |
2 |
142,541,577 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9138:Kif16b
|
UTSW |
2 |
142,542,476 (GRCm39) |
missense |
|
|
R9167:Kif16b
|
UTSW |
2 |
142,542,840 (GRCm39) |
nonsense |
probably null |
|
R9218:Kif16b
|
UTSW |
2 |
142,541,583 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9283:Kif16b
|
UTSW |
2 |
142,554,900 (GRCm39) |
missense |
probably benign |
0.00 |
R9300:Kif16b
|
UTSW |
2 |
142,541,207 (GRCm39) |
missense |
probably benign |
|
R9378:Kif16b
|
UTSW |
2 |
142,461,738 (GRCm39) |
nonsense |
probably null |
|
R9522:Kif16b
|
UTSW |
2 |
142,691,827 (GRCm39) |
missense |
probably damaging |
0.96 |
R9588:Kif16b
|
UTSW |
2 |
142,553,804 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9632:Kif16b
|
UTSW |
2 |
142,553,960 (GRCm39) |
missense |
probably benign |
0.00 |
R9641:Kif16b
|
UTSW |
2 |
142,542,589 (GRCm39) |
missense |
probably benign |
0.01 |
X0058:Kif16b
|
UTSW |
2 |
142,600,781 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Kif16b
|
UTSW |
2 |
142,553,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGAATGTTGAGTACCTGGCATC -3'
(R):5'- GCCTCTAAGGGCTTGCTTACAACAC -3'
Sequencing Primer
(F):5'- AGTACCTGGCATCCATCAGTG -3'
(R):5'- CATGGATGCCTGAAACTCTTG -3'
|
Posted On |
2013-06-11 |