Incidental Mutation 'R9022:Kif16b'
ID |
686254 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif16b
|
Ensembl Gene |
ENSMUSG00000038844 |
Gene Name |
kinesin family member 16B |
Synonyms |
N-3 kinesin, 8430434E15Rik |
MMRRC Submission |
068852-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9022 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 142554537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 754
(E754K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042551
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000211861]
[ENSMUST00000230763]
|
AlphaFold |
B1AVY7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043589
AA Change: E754K
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000042551 Gene: ENSMUSG00000038844 AA Change: E754K
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 |
possibly damaging
Transcript: ENSMUST00000211861
AA Change: E754K
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230763
AA Change: E765K
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (84/84) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
G |
T |
3: 32,769,649 (GRCm39) |
A155S |
probably benign |
Het |
Adar |
A |
G |
3: 89,643,045 (GRCm39) |
T309A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,303,312 (GRCm39) |
W6125R |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,274,352 (GRCm39) |
L802P |
probably benign |
Het |
Ahcy |
A |
G |
2: 154,910,779 (GRCm39) |
L63P |
probably damaging |
Het |
Ang5 |
G |
A |
14: 44,200,352 (GRCm39) |
D139N |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 96,962,655 (GRCm39) |
D482G |
probably benign |
Het |
Arhgef7 |
A |
G |
8: 11,850,469 (GRCm39) |
N257D |
probably benign |
Het |
Art3 |
C |
A |
5: 92,540,393 (GRCm39) |
S45R |
probably benign |
Het |
Atxn1 |
T |
C |
13: 45,720,891 (GRCm39) |
R335G |
probably damaging |
Het |
Bag6 |
T |
A |
17: 35,363,641 (GRCm39) |
L775H |
probably damaging |
Het |
BC004004 |
T |
G |
17: 29,501,130 (GRCm39) |
H26Q |
possibly damaging |
Het |
Camsap3 |
T |
C |
8: 3,656,575 (GRCm39) |
L986S |
probably benign |
Het |
Cbx5 |
T |
C |
15: 103,121,586 (GRCm39) |
E17G |
probably damaging |
Het |
Cc2d1b |
T |
C |
4: 108,484,617 (GRCm39) |
|
probably null |
Het |
Ccdc59 |
T |
C |
10: 105,683,007 (GRCm39) |
Y231H |
probably damaging |
Het |
Cemip2 |
T |
C |
19: 21,789,986 (GRCm39) |
|
probably null |
Het |
Csnk1g1 |
T |
C |
9: 65,917,854 (GRCm39) |
|
probably null |
Het |
Cybrd1 |
A |
G |
2: 70,967,904 (GRCm39) |
I158M |
possibly damaging |
Het |
Disp2 |
T |
A |
2: 118,621,179 (GRCm39) |
I637N |
probably benign |
Het |
Dll4 |
TC |
T |
2: 119,163,054 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,512,116 (GRCm39) |
|
probably null |
Het |
Duox2 |
C |
A |
2: 122,110,919 (GRCm39) |
*1518L |
probably null |
Het |
Dym |
A |
G |
18: 75,258,507 (GRCm39) |
I422V |
probably benign |
Het |
Entpd8 |
A |
C |
2: 24,975,144 (GRCm39) |
I492L |
probably benign |
Het |
Fabp12 |
A |
G |
3: 10,317,333 (GRCm39) |
S13P |
probably damaging |
Het |
Fam124b |
A |
G |
1: 80,190,705 (GRCm39) |
I226T |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,455,329 (GRCm39) |
L763P |
probably damaging |
Het |
Git2 |
A |
G |
5: 114,907,676 (GRCm39) |
|
probably null |
Het |
Gltpd2 |
A |
T |
11: 70,410,153 (GRCm39) |
Y37F |
probably benign |
Het |
Gm44511 |
T |
G |
6: 128,797,271 (GRCm39) |
Q72H |
possibly damaging |
Het |
Grid2ip |
A |
T |
5: 143,366,204 (GRCm39) |
T565S |
probably benign |
Het |
Grk6 |
T |
C |
13: 55,606,877 (GRCm39) |
S532P |
possibly damaging |
Het |
Haspin |
A |
T |
11: 73,026,831 (GRCm39) |
F753I |
probably damaging |
Het |
Herpud1 |
T |
A |
8: 95,116,197 (GRCm39) |
S92T |
possibly damaging |
Het |
Heyl |
C |
T |
4: 123,139,768 (GRCm39) |
A109V |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,955,304 (GRCm39) |
S1207P |
probably benign |
Het |
Hk1 |
A |
G |
10: 62,105,768 (GRCm39) |
S893P |
probably damaging |
Het |
Itih1 |
C |
A |
14: 30,652,327 (GRCm39) |
V789L |
probably benign |
Het |
Kif12 |
T |
C |
4: 63,090,121 (GRCm39) |
D10G |
possibly damaging |
Het |
Kif20a |
A |
G |
18: 34,760,898 (GRCm39) |
Q191R |
probably benign |
Het |
Lap3 |
A |
G |
5: 45,652,548 (GRCm39) |
D48G |
probably benign |
Het |
Matn3 |
T |
A |
12: 9,002,355 (GRCm39) |
V189E |
probably damaging |
Het |
Mbp |
G |
A |
18: 82,597,067 (GRCm39) |
E143K |
possibly damaging |
Het |
Mrgprd |
A |
G |
7: 144,875,555 (GRCm39) |
H142R |
probably benign |
Het |
Nbea |
A |
T |
3: 55,551,110 (GRCm39) |
C2685S |
possibly damaging |
Het |
Nhsl1 |
A |
C |
10: 18,403,409 (GRCm39) |
I1381L |
possibly damaging |
Het |
Npc1 |
A |
G |
18: 12,346,422 (GRCm39) |
M258T |
probably benign |
Het |
Or2w3 |
T |
C |
11: 58,556,550 (GRCm39) |
L55P |
probably damaging |
Het |
Or7e178 |
T |
A |
9: 20,225,268 (GRCm39) |
N316I |
probably damaging |
Het |
Osbpl10 |
C |
T |
9: 114,807,939 (GRCm39) |
A65V |
unknown |
Het |
Pdia4 |
C |
G |
6: 47,785,149 (GRCm39) |
A73P |
probably benign |
Het |
Plxnb2 |
T |
C |
15: 89,048,471 (GRCm39) |
Y646C |
possibly damaging |
Het |
Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
Pold2 |
T |
C |
11: 5,824,121 (GRCm39) |
D228G |
probably benign |
Het |
Popdc2 |
T |
G |
16: 38,194,508 (GRCm39) |
C310G |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,268,424 (GRCm39) |
Y791C |
probably benign |
Het |
Psg19 |
C |
T |
7: 18,530,762 (GRCm39) |
V131I |
probably benign |
Het |
Psg19 |
T |
A |
7: 18,531,044 (GRCm39) |
T37S |
probably benign |
Het |
Psme1 |
A |
G |
14: 55,817,271 (GRCm39) |
E39G |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,043,719 (GRCm39) |
E472G |
probably damaging |
Het |
Rap1gap |
T |
C |
4: 137,445,309 (GRCm39) |
F297S |
probably damaging |
Het |
Reln |
A |
G |
5: 22,181,613 (GRCm39) |
S1757P |
possibly damaging |
Het |
Rybp |
G |
T |
6: 100,210,074 (GRCm39) |
D95E |
possibly damaging |
Het |
Slc12a8 |
T |
A |
16: 33,466,934 (GRCm39) |
D480E |
probably benign |
Het |
Slc25a1 |
A |
G |
16: 17,745,294 (GRCm39) |
V80A |
probably benign |
Het |
Slc25a24 |
A |
T |
3: 109,070,757 (GRCm39) |
D372V |
probably benign |
Het |
Slc49a4 |
T |
C |
16: 35,570,912 (GRCm39) |
T131A |
probably benign |
Het |
Stab1 |
T |
C |
14: 30,882,226 (GRCm39) |
T490A |
probably benign |
Het |
Stat5b |
A |
T |
11: 100,681,634 (GRCm39) |
I540N |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,626,659 (GRCm39) |
V1097A |
probably benign |
Het |
Thy1 |
T |
A |
9: 43,957,947 (GRCm39) |
L25Q |
probably damaging |
Het |
Trim30a |
A |
G |
7: 104,084,956 (GRCm39) |
S85P |
probably benign |
Het |
Use1 |
G |
A |
8: 71,819,942 (GRCm39) |
V36I |
probably benign |
Het |
Vmn1r228 |
T |
A |
17: 20,996,778 (GRCm39) |
I247F |
probably damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,304,242 (GRCm39) |
T730S |
possibly damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,992,923 (GRCm39) |
D529G |
possibly damaging |
Het |
Washc5 |
A |
G |
15: 59,217,233 (GRCm39) |
I778T |
possibly damaging |
Het |
Washc5 |
A |
T |
15: 59,233,069 (GRCm39) |
M294K |
probably damaging |
Het |
Wnt8a |
A |
T |
18: 34,680,298 (GRCm39) |
D221V |
probably damaging |
Het |
Zfp616 |
A |
G |
11: 73,976,539 (GRCm39) |
K936R |
probably damaging |
Het |
Zfp618 |
G |
A |
4: 63,012,687 (GRCm39) |
C133Y |
probably damaging |
Het |
Zfp82 |
A |
G |
7: 29,761,714 (GRCm39) |
S56P |
probably damaging |
Het |
Zkscan16 |
T |
A |
4: 58,957,021 (GRCm39) |
D434E |
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 |
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 |
|
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'- CAAGCTGCCTTCTCTTGAAC -3'
(R):5'- GAGGAAGAGAGCTTATTCCGC -3'
Sequencing Primer
(F):5'- AAGAAGTACTGCTGAGCCCTTTC -3'
(R):5'- TATTCCGCATCAGAGAAGAGCTTCG -3'
|
Posted On |
2021-10-11 |