Incidental Mutation 'R0502:Kif16b'
ID |
47182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif16b
|
Ensembl Gene |
ENSMUSG00000038844 |
Gene Name |
kinesin family member 16B |
Synonyms |
N-3 kinesin, 8430434E15Rik |
MMRRC Submission |
038697-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0502 (G1)
|
Quality Score |
216 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 142554075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 908
(D908N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000211861]
[ENSMUST00000230763]
|
AlphaFold |
B1AVY7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043589
AA Change: D908N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042551 Gene: ENSMUSG00000038844 AA Change: D908N
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
AA Change: D908N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230763
AA Change: D919N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (63/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,322 (GRCm39) |
H755R |
possibly damaging |
Het |
Ano1 |
A |
G |
7: 144,150,952 (GRCm39) |
L821P |
probably damaging |
Het |
Apol10b |
T |
A |
15: 77,476,349 (GRCm39) |
|
probably benign |
Het |
Atp2c2 |
A |
G |
8: 120,461,316 (GRCm39) |
E279G |
probably null |
Het |
Ccar2 |
A |
G |
14: 70,378,431 (GRCm39) |
S625P |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,387,761 (GRCm39) |
|
probably benign |
Het |
Cep350 |
A |
T |
1: 155,776,629 (GRCm39) |
|
probably null |
Het |
Chd3 |
A |
G |
11: 69,244,931 (GRCm39) |
V1203A |
probably damaging |
Het |
Col24a1 |
A |
G |
3: 145,251,071 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,644,550 (GRCm39) |
M1246K |
probably benign |
Het |
Crot |
A |
G |
5: 9,026,075 (GRCm39) |
V304A |
possibly damaging |
Het |
Dapk1 |
T |
A |
13: 60,878,662 (GRCm39) |
|
probably null |
Het |
Dicer1 |
A |
T |
12: 104,671,319 (GRCm39) |
S984T |
probably damaging |
Het |
Dmbt1 |
G |
A |
7: 130,699,403 (GRCm39) |
|
probably null |
Het |
Dnah7b |
A |
T |
1: 46,258,704 (GRCm39) |
E1965V |
probably damaging |
Het |
Dpp4 |
G |
T |
2: 62,195,332 (GRCm39) |
N315K |
probably damaging |
Het |
Eeig2 |
G |
A |
3: 108,900,001 (GRCm39) |
R116C |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,057,073 (GRCm39) |
S4256R |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Gpatch4 |
A |
G |
3: 87,962,672 (GRCm39) |
D295G |
probably benign |
Het |
Gpbar1 |
A |
T |
1: 74,318,551 (GRCm39) |
I265F |
probably benign |
Het |
Gria1 |
T |
G |
11: 57,080,542 (GRCm39) |
V175G |
probably damaging |
Het |
Hacl1 |
A |
T |
14: 31,344,941 (GRCm39) |
|
probably benign |
Het |
Hnrnpc |
A |
G |
14: 52,312,629 (GRCm39) |
|
probably benign |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Ifnar1 |
T |
A |
16: 91,298,639 (GRCm39) |
C419S |
probably damaging |
Het |
Irx4 |
T |
A |
13: 73,414,703 (GRCm39) |
|
probably null |
Het |
Itga2 |
T |
G |
13: 114,982,392 (GRCm39) |
N1038H |
probably benign |
Het |
Lamc1 |
A |
G |
1: 153,122,678 (GRCm39) |
|
probably benign |
Het |
Lrig3 |
A |
G |
10: 125,844,605 (GRCm39) |
T690A |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,341,361 (GRCm39) |
K940E |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,363,608 (GRCm39) |
S1775P |
probably damaging |
Het |
Mrps27 |
G |
T |
13: 99,546,303 (GRCm39) |
|
probably benign |
Het |
Ncam1 |
A |
G |
9: 49,481,118 (GRCm39) |
|
probably benign |
Het |
Nopchap1 |
A |
G |
10: 83,197,920 (GRCm39) |
D42G |
probably damaging |
Het |
Or2z2 |
T |
C |
11: 58,346,140 (GRCm39) |
I212V |
possibly damaging |
Het |
Or51a5 |
A |
T |
7: 102,771,643 (GRCm39) |
M112K |
possibly damaging |
Het |
Pbrm1 |
T |
G |
14: 30,786,777 (GRCm39) |
D631E |
probably benign |
Het |
Pdc |
A |
T |
1: 150,204,165 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,793,766 (GRCm39) |
S1818P |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,520,954 (GRCm39) |
N784S |
probably benign |
Het |
Rab35 |
G |
A |
5: 115,783,723 (GRCm39) |
R170Q |
probably benign |
Het |
Rerg |
A |
T |
6: 137,033,305 (GRCm39) |
C123* |
probably null |
Het |
Ros1 |
A |
G |
10: 52,070,919 (GRCm39) |
|
probably benign |
Het |
Siglece |
A |
G |
7: 43,309,355 (GRCm39) |
Y68H |
probably damaging |
Het |
Slc28a2 |
T |
A |
2: 122,288,762 (GRCm39) |
|
probably null |
Het |
Slc4a11 |
T |
C |
2: 130,530,077 (GRCm39) |
K234E |
probably damaging |
Het |
Sqor |
C |
T |
2: 122,639,970 (GRCm39) |
P158S |
probably benign |
Het |
Tcerg1 |
C |
T |
18: 42,656,021 (GRCm39) |
P110S |
unknown |
Het |
Tm6sf2 |
T |
A |
8: 70,530,591 (GRCm39) |
Y224N |
probably damaging |
Het |
Tmem39b |
A |
C |
4: 129,580,779 (GRCm39) |
Y238D |
possibly damaging |
Het |
Ttll10 |
T |
C |
4: 156,132,005 (GRCm39) |
|
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,916,520 (GRCm39) |
L898Q |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,199,027 (GRCm39) |
V1207E |
probably damaging |
Het |
Uhrf2 |
A |
G |
19: 30,070,176 (GRCm39) |
D775G |
probably damaging |
Het |
Utp25 |
A |
T |
1: 192,797,136 (GRCm39) |
|
probably benign |
Het |
Vmn1r196 |
G |
A |
13: 22,477,557 (GRCm39) |
M65I |
probably benign |
Het |
Vmn1r87 |
T |
G |
7: 12,865,583 (GRCm39) |
T235P |
probably damaging |
Het |
Vmn2r96 |
T |
A |
17: 18,804,262 (GRCm39) |
M504K |
probably benign |
Het |
Zdbf2 |
A |
T |
1: 63,344,449 (GRCm39) |
I943F |
possibly damaging |
Het |
Zfp78 |
A |
G |
7: 6,376,157 (GRCm39) |
D22G |
probably damaging |
Het |
Zfp827 |
C |
T |
8: 79,905,706 (GRCm39) |
|
probably null |
Het |
Zfyve9 |
A |
T |
4: 108,576,961 (GRCm39) |
L40* |
probably null |
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 |
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'- TTAGCCACAGCCTGCTCCAATG -3'
(R):5'- CTGGAAAGGGCTCAGCAGTACTTC -3'
Sequencing Primer
(F):5'- CACGTTAGCTGTGAACTCGAAG -3'
(R):5'- GGCTCAGCAGTACTTCTTAGAG -3'
|
Posted On |
2013-06-12 |