Incidental Mutation 'R8056:Kif16b'
ID |
619353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif16b
|
Ensembl Gene |
ENSMUSG00000038844 |
Gene Name |
kinesin family member 16B |
Synonyms |
N-3 kinesin, 8430434E15Rik |
MMRRC Submission |
067493-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8056 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 142554762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 679
(F679L)
|
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: F679L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042551 Gene: ENSMUSG00000038844 AA Change: F679L
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: F679L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230763
AA Change: F690L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
T |
C |
11: 48,910,909 (GRCm39) |
E508G |
probably benign |
Het |
Acsl3 |
C |
T |
1: 78,659,611 (GRCm39) |
L88F |
probably damaging |
Het |
Adamtsl1 |
C |
T |
4: 86,260,269 (GRCm39) |
P835S |
possibly damaging |
Het |
Agrn |
A |
G |
4: 156,254,868 (GRCm39) |
V1616A |
probably benign |
Het |
Bmerb1 |
T |
A |
16: 13,856,180 (GRCm39) |
|
probably benign |
Het |
Brca2 |
T |
C |
5: 150,492,771 (GRCm39) |
V3262A |
possibly damaging |
Het |
Bsn |
T |
C |
9: 107,982,506 (GRCm39) |
D977G |
|
Het |
Cic |
G |
T |
7: 24,990,366 (GRCm39) |
A1956S |
possibly damaging |
Het |
Clip4 |
C |
A |
17: 72,110,587 (GRCm39) |
T189K |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,507,220 (GRCm39) |
E279G |
|
Het |
Col24a1 |
A |
C |
3: 145,019,925 (GRCm39) |
I99L |
possibly damaging |
Het |
Cpne3 |
A |
G |
4: 19,532,426 (GRCm39) |
V329A |
possibly damaging |
Het |
Cyp17a1 |
T |
C |
19: 46,659,030 (GRCm39) |
I204V |
possibly damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,130,485 (GRCm39) |
I107V |
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,763,213 (GRCm39) |
R1840G |
probably null |
Het |
Dhx36 |
A |
T |
3: 62,396,012 (GRCm39) |
L465Q |
possibly damaging |
Het |
Edc4 |
A |
G |
8: 106,617,116 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,799,896 (GRCm39) |
T2931A |
probably damaging |
Het |
Fam133b |
A |
T |
5: 3,615,744 (GRCm39) |
R215S |
unknown |
Het |
Fbh1 |
G |
A |
2: 11,748,441 (GRCm39) |
T985I |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,892,633 (GRCm39) |
D2911G |
probably damaging |
Het |
Gm13889 |
A |
T |
2: 93,787,020 (GRCm39) |
D151E |
probably damaging |
Het |
Gosr2 |
C |
A |
11: 103,588,530 (GRCm39) |
|
probably benign |
Het |
Igkv8-26 |
T |
A |
6: 70,170,706 (GRCm39) |
L99H |
probably damaging |
Het |
Inhca |
A |
G |
9: 103,143,423 (GRCm39) |
C438R |
probably damaging |
Het |
Kif1a |
G |
C |
1: 92,982,423 (GRCm39) |
|
probably benign |
Het |
Kif3b |
G |
C |
2: 153,171,979 (GRCm39) |
R716S |
possibly damaging |
Het |
Lilra6 |
A |
T |
7: 3,915,551 (GRCm39) |
C395S |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,647,337 (GRCm39) |
F1302L |
probably damaging |
Het |
Map2 |
T |
G |
1: 66,454,779 (GRCm39) |
V1223G |
probably damaging |
Het |
Mical1 |
T |
A |
10: 41,357,168 (GRCm39) |
N324K |
probably damaging |
Het |
Morc3 |
T |
A |
16: 93,642,064 (GRCm39) |
H94Q |
probably benign |
Het |
Mpped1 |
T |
C |
15: 83,720,663 (GRCm39) |
V199A |
possibly damaging |
Het |
Msx1 |
G |
A |
5: 37,981,544 (GRCm39) |
T45I |
probably benign |
Het |
Myh7 |
G |
A |
14: 55,210,776 (GRCm39) |
Q1714* |
probably null |
Het |
Narf |
T |
C |
11: 121,136,170 (GRCm39) |
V182A |
possibly damaging |
Het |
Ncapd2 |
G |
A |
6: 125,148,006 (GRCm39) |
T1107M |
probably damaging |
Het |
Nek3 |
A |
G |
8: 22,619,359 (GRCm39) |
|
probably null |
Het |
Neurog1 |
G |
T |
13: 56,399,223 (GRCm39) |
P175T |
probably damaging |
Het |
Nlrp9c |
T |
C |
7: 26,085,112 (GRCm39) |
T156A |
probably damaging |
Het |
Or1ad1 |
T |
A |
11: 50,876,368 (GRCm39) |
V280E |
probably damaging |
Het |
Or2a20 |
A |
T |
6: 43,193,978 (GRCm39) |
I44F |
probably damaging |
Het |
Or6c3 |
G |
A |
10: 129,309,061 (GRCm39) |
A167T |
probably benign |
Het |
Orm3 |
A |
G |
4: 63,277,594 (GRCm39) |
E194G |
probably benign |
Het |
Pga5 |
A |
C |
19: 10,654,161 (GRCm39) |
|
probably benign |
Het |
Pik3r2 |
G |
T |
8: 71,225,011 (GRCm39) |
P151T |
probably benign |
Het |
Pkp2 |
T |
C |
16: 16,031,264 (GRCm39) |
C10R |
probably benign |
Het |
Plxdc1 |
T |
A |
11: 97,869,343 (GRCm39) |
R82W |
probably damaging |
Het |
Polr2c |
G |
A |
8: 95,586,895 (GRCm39) |
A54T |
probably benign |
Het |
Rab31 |
T |
C |
17: 66,024,503 (GRCm39) |
I59V |
probably benign |
Het |
Rasgrf2 |
T |
C |
13: 92,167,321 (GRCm39) |
M251V |
probably damaging |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
Rfc1 |
A |
C |
5: 65,451,436 (GRCm39) |
|
probably benign |
Het |
Rhag |
T |
C |
17: 41,139,679 (GRCm39) |
I137T |
probably damaging |
Het |
Rnf216 |
T |
C |
5: 142,978,616 (GRCm39) |
M841V |
probably benign |
Het |
Scaf11 |
C |
A |
15: 96,312,698 (GRCm39) |
E1448* |
probably null |
Het |
Septin11 |
T |
C |
5: 93,315,435 (GRCm39) |
L388P |
unknown |
Het |
Serpina1b |
A |
T |
12: 103,784,137 (GRCm39) |
|
probably benign |
Het |
Skint10 |
A |
G |
4: 112,573,010 (GRCm39) |
I262T |
probably benign |
Het |
Slc13a4 |
C |
T |
6: 35,245,887 (GRCm39) |
G586E |
probably damaging |
Het |
Slc8a1 |
C |
T |
17: 81,955,352 (GRCm39) |
G562E |
probably damaging |
Het |
Slc8b1 |
T |
A |
5: 120,658,682 (GRCm39) |
L126Q |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,759,589 (GRCm39) |
Y2086H |
unknown |
Het |
Spmip10 |
A |
G |
18: 56,727,763 (GRCm39) |
N79S |
|
Het |
Taf1c |
A |
T |
8: 120,330,202 (GRCm39) |
D47E |
probably benign |
Het |
Tbx5 |
A |
C |
5: 119,991,678 (GRCm39) |
M250L |
probably benign |
Het |
Tekt3 |
T |
C |
11: 62,974,785 (GRCm39) |
|
probably null |
Het |
Topors |
T |
C |
4: 40,262,221 (GRCm39) |
I354M |
probably benign |
Het |
Ttn |
C |
A |
2: 76,778,574 (GRCm39) |
G1309V |
unknown |
Het |
Ttyh1 |
C |
T |
7: 4,127,622 (GRCm39) |
|
probably benign |
Het |
Ubac1 |
A |
G |
2: 25,897,909 (GRCm39) |
I237T |
probably benign |
Het |
Vmn1r197 |
T |
A |
13: 22,512,388 (GRCm39) |
V103D |
probably damaging |
Het |
Zfp184 |
T |
C |
13: 22,143,008 (GRCm39) |
F238S |
probably damaging |
Het |
Zfp445 |
A |
G |
9: 122,681,032 (GRCm39) |
F970L |
possibly damaging |
Het |
Zfp90 |
A |
T |
8: 107,151,112 (GRCm39) |
E275V |
probably damaging |
Het |
Zscan12 |
C |
G |
13: 21,553,492 (GRCm39) |
Q439E |
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 |
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 |
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'- TGGCACTCTGGGCATTTTGC -3'
(R):5'- CAGCATTTGCATTGCAGGAAAC -3'
Sequencing Primer
(F):5'- CTCTTGGTGCAATCGGTCCAG -3'
(R):5'- TTGCATTGCAGGAAACTCATTGAGG -3'
|
Posted On |
2020-01-23 |