Incidental Mutation 'R7265:Kif16b'
ID |
564847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif16b
|
Ensembl Gene |
ENSMUSG00000038844 |
Gene Name |
kinesin family member 16B |
Synonyms |
N-3 kinesin, 8430434E15Rik |
MMRRC Submission |
045355-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7265 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142556650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 596
(L596H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042551
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000211861]
[ENSMUST00000230763]
|
AlphaFold |
B1AVY7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043589
AA Change: L596H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042551 Gene: ENSMUSG00000038844 AA Change: L596H
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 damaging
Transcript: ENSMUST00000211861
AA Change: L596H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230763
AA Change: L607H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb3 |
A |
G |
11: 30,948,495 (GRCm39) |
E57G |
probably benign |
Het |
B3glct |
A |
G |
5: 149,632,785 (GRCm39) |
D45G |
probably benign |
Het |
BC034090 |
C |
A |
1: 155,101,073 (GRCm39) |
C397F |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,415,374 (GRCm39) |
K696E |
probably damaging |
Het |
Btnl4 |
C |
T |
17: 34,694,868 (GRCm39) |
C15Y |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,557,257 (GRCm39) |
N300S |
|
Het |
Chia1 |
T |
A |
3: 106,036,239 (GRCm39) |
L273Q |
probably damaging |
Het |
Coq2 |
A |
G |
5: 100,808,136 (GRCm39) |
S222P |
possibly damaging |
Het |
Dgkb |
T |
C |
12: 38,234,931 (GRCm39) |
V432A |
possibly damaging |
Het |
Dpp3 |
A |
G |
19: 4,973,797 (GRCm39) |
F92S |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,496,975 (GRCm39) |
V813A |
possibly damaging |
Het |
Emcn |
T |
C |
3: 137,122,839 (GRCm39) |
S183P |
probably damaging |
Het |
Emcn |
T |
A |
3: 137,124,837 (GRCm39) |
W217R |
probably damaging |
Het |
Enpp2 |
A |
C |
15: 54,773,429 (GRCm39) |
|
probably null |
Het |
Epb41 |
T |
C |
4: 131,695,145 (GRCm39) |
E14G |
unknown |
Het |
Fhip1b |
G |
T |
7: 105,033,432 (GRCm39) |
R609S |
probably benign |
Het |
Grk4 |
A |
G |
5: 34,873,608 (GRCm39) |
R225G |
probably damaging |
Het |
Insl6 |
A |
T |
19: 29,298,945 (GRCm39) |
W156R |
possibly damaging |
Het |
Ints3 |
A |
T |
3: 90,311,290 (GRCm39) |
|
probably null |
Het |
Jarid2 |
G |
A |
13: 45,055,748 (GRCm39) |
G318D |
probably benign |
Het |
Lctl |
T |
A |
9: 64,034,203 (GRCm39) |
Y281N |
probably damaging |
Het |
Letm1 |
A |
T |
5: 33,935,992 (GRCm39) |
C34S |
possibly damaging |
Het |
Lrrc32 |
T |
C |
7: 98,148,644 (GRCm39) |
S475P |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,389,767 (GRCm39) |
D1886V |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,301,670 (GRCm39) |
I944K |
probably benign |
Het |
Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
Mecom |
C |
A |
3: 30,034,282 (GRCm39) |
A465S |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,567,768 (GRCm39) |
S1584P |
unknown |
Het |
Mycbp2 |
A |
G |
14: 103,434,679 (GRCm39) |
|
probably null |
Het |
Myo18b |
G |
A |
5: 112,959,938 (GRCm39) |
R1372W |
probably damaging |
Het |
Myo1c |
T |
C |
11: 75,560,616 (GRCm39) |
I706T |
possibly damaging |
Het |
Myo1g |
T |
C |
11: 6,460,933 (GRCm39) |
T704A |
possibly damaging |
Het |
Nwd1 |
A |
G |
8: 73,419,556 (GRCm39) |
K914E |
probably benign |
Het |
Or5ac20 |
T |
A |
16: 59,104,287 (GRCm39) |
D191V |
probably damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,227 (GRCm39) |
I77L |
possibly damaging |
Het |
Or8k23 |
C |
T |
2: 86,186,088 (GRCm39) |
V213I |
probably benign |
Het |
Otub2 |
C |
T |
12: 103,366,480 (GRCm39) |
S99L |
probably damaging |
Het |
Pak5 |
G |
A |
2: 135,943,105 (GRCm39) |
S345L |
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,638,616 (GRCm39) |
I381F |
possibly damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,969 (GRCm39) |
T659A |
probably damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,971 (GRCm39) |
T277I |
probably damaging |
Het |
Pik3c2a |
T |
A |
7: 115,987,321 (GRCm39) |
K533N |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,879,402 (GRCm39) |
Q933L |
|
Het |
Ppp4r3a |
A |
T |
12: 101,019,770 (GRCm39) |
M395K |
possibly damaging |
Het |
Pramel11 |
C |
A |
4: 143,621,991 (GRCm39) |
V455L |
probably benign |
Het |
Ptpn20 |
A |
G |
14: 33,336,481 (GRCm39) |
T107A |
probably benign |
Het |
Scaf8 |
T |
A |
17: 3,227,900 (GRCm39) |
D376E |
unknown |
Het |
Scn11a |
C |
A |
9: 119,644,331 (GRCm39) |
C143F |
probably damaging |
Het |
Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
Sec13 |
A |
T |
6: 113,712,097 (GRCm39) |
Y79* |
probably null |
Het |
Sez6 |
T |
A |
11: 77,853,691 (GRCm39) |
I287N |
probably damaging |
Het |
Slc52a3 |
T |
A |
2: 151,846,336 (GRCm39) |
I99K |
possibly damaging |
Het |
Slco4c1 |
T |
G |
1: 96,799,518 (GRCm39) |
H106P |
probably damaging |
Het |
Tada2b |
A |
G |
5: 36,633,952 (GRCm39) |
Y209H |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,396,963 (GRCm39) |
D796E |
probably benign |
Het |
Tdrd12 |
A |
T |
7: 35,187,147 (GRCm39) |
M581K |
|
Het |
Thnsl1 |
A |
G |
2: 21,217,269 (GRCm39) |
E341G |
probably damaging |
Het |
Tlk2 |
C |
T |
11: 105,075,070 (GRCm39) |
R11* |
probably null |
Het |
Tmco6 |
T |
C |
18: 36,872,396 (GRCm39) |
|
probably null |
Het |
Trmt44 |
A |
T |
5: 35,721,647 (GRCm39) |
H505Q |
probably benign |
Het |
Trpc1 |
T |
C |
9: 95,590,328 (GRCm39) |
M710V |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,040,517 (GRCm39) |
E858G |
possibly damaging |
Het |
Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,464,195 (GRCm39) |
N213S |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,655,776 (GRCm39) |
V662I |
|
Het |
Zfp414 |
C |
A |
17: 33,850,253 (GRCm39) |
D217E |
probably benign |
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 |
|
R0081:Kif16b
|
UTSW |
2 |
142,549,346 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- ACCTTGAGGCATTAGACATGGTAAC -3'
(R):5'- AGCTGCATGGACTAGACATG -3'
Sequencing Primer
(F):5'- TGGTAACAGCAGATGCAGAGC -3'
(R):5'- GTTCTCTTCAGTCTAAGTTCAAACAC -3'
|
Posted On |
2019-06-26 |