Incidental Mutation 'R5120:Kif16b'
ID |
392901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif16b
|
Ensembl Gene |
ENSMUSG00000038844 |
Gene Name |
kinesin family member 16B |
Synonyms |
N-3 kinesin, 8430434E15Rik |
MMRRC Submission |
042708-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5120 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 142690259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 274
(N274K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154926
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000211861]
[ENSMUST00000230763]
|
AlphaFold |
B1AVY7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043589
AA Change: N274K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042551 Gene: ENSMUSG00000038844 AA Change: N274K
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: N274K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230763
AA Change: N274K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6999 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
Validation Efficiency |
100% (97/97) |
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 |
2310033P09Rik |
A |
G |
11: 59,101,061 (GRCm39) |
H225R |
probably benign |
Het |
Abcc9 |
T |
A |
6: 142,602,344 (GRCm39) |
I690F |
probably benign |
Het |
Acp4 |
A |
T |
7: 43,906,395 (GRCm39) |
D52E |
probably damaging |
Het |
Adam17 |
T |
C |
12: 21,393,020 (GRCm39) |
|
probably benign |
Het |
Adamts15 |
T |
C |
9: 30,832,872 (GRCm39) |
E221G |
probably damaging |
Het |
Aoc2 |
A |
G |
11: 101,216,540 (GRCm39) |
T208A |
probably benign |
Het |
Apoa4 |
T |
G |
9: 46,154,035 (GRCm39) |
I212S |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,964,211 (GRCm39) |
M1598K |
probably damaging |
Het |
Camsap3 |
G |
A |
8: 3,650,680 (GRCm39) |
R209Q |
probably damaging |
Het |
Ccdc171 |
C |
A |
4: 83,476,763 (GRCm39) |
|
probably benign |
Het |
Celsr2 |
G |
C |
3: 108,300,436 (GRCm39) |
P2875A |
probably benign |
Het |
Cenpb |
A |
G |
2: 131,021,738 (GRCm39) |
V20A |
probably benign |
Het |
Cfap61 |
A |
T |
2: 145,985,080 (GRCm39) |
K975* |
probably null |
Het |
Cfhr4 |
T |
C |
1: 139,680,841 (GRCm39) |
S226G |
probably benign |
Het |
Col9a2 |
G |
T |
4: 120,896,969 (GRCm39) |
A20S |
unknown |
Het |
Crnn |
A |
T |
3: 93,056,203 (GRCm39) |
I330F |
probably benign |
Het |
Csf3r |
C |
A |
4: 125,929,620 (GRCm39) |
P381Q |
probably benign |
Het |
Csmd3 |
G |
A |
15: 48,536,891 (GRCm39) |
Q104* |
probably null |
Het |
Ctnna1 |
G |
A |
18: 35,315,607 (GRCm39) |
|
probably null |
Het |
Cwf19l2 |
C |
T |
9: 3,418,761 (GRCm39) |
Q183* |
probably null |
Het |
Ddx60 |
T |
C |
8: 62,398,940 (GRCm39) |
Y220H |
probably benign |
Het |
Dhh |
T |
C |
15: 98,796,038 (GRCm39) |
Q39R |
probably benign |
Het |
Dynlrb2 |
T |
A |
8: 117,242,437 (GRCm39) |
I89N |
possibly damaging |
Het |
Dytn |
T |
C |
1: 63,662,202 (GRCm39) |
E645G |
probably benign |
Het |
Efcab7 |
A |
G |
4: 99,754,688 (GRCm39) |
T287A |
probably damaging |
Het |
Eogt |
A |
G |
6: 97,111,276 (GRCm39) |
V195A |
probably benign |
Het |
Ep400 |
G |
T |
5: 110,904,224 (GRCm39) |
P125Q |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,702,217 (GRCm39) |
V1815A |
probably benign |
Het |
Gm5866 |
T |
C |
5: 52,740,224 (GRCm39) |
|
noncoding transcript |
Het |
Gm8674 |
C |
A |
13: 50,055,984 (GRCm39) |
|
noncoding transcript |
Het |
Gpat4 |
G |
T |
8: 23,670,218 (GRCm39) |
H270Q |
possibly damaging |
Het |
Grik5 |
A |
G |
7: 24,710,065 (GRCm39) |
L890P |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,474,934 (GRCm39) |
N500S |
probably damaging |
Het |
H2-M10.1 |
T |
C |
17: 36,636,048 (GRCm39) |
D173G |
probably benign |
Het |
Igfn1 |
T |
A |
1: 135,901,240 (GRCm39) |
I413F |
possibly damaging |
Het |
Ighv1-52 |
G |
T |
12: 115,109,406 (GRCm39) |
H17N |
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,424,516 (GRCm39) |
D270E |
possibly damaging |
Het |
Klk1b11 |
C |
T |
7: 43,648,446 (GRCm39) |
T151I |
probably benign |
Het |
Krtap13 |
A |
G |
16: 88,548,458 (GRCm39) |
F10S |
probably damaging |
Het |
Large1 |
A |
T |
8: 73,585,969 (GRCm39) |
I379N |
probably damaging |
Het |
Lhx8 |
T |
C |
3: 154,017,332 (GRCm39) |
H301R |
probably damaging |
Het |
Lrriq3 |
T |
C |
3: 154,835,021 (GRCm39) |
V252A |
probably benign |
Het |
Lysmd3 |
T |
A |
13: 81,817,311 (GRCm39) |
I96N |
probably damaging |
Het |
Mpeg1 |
C |
T |
19: 12,438,793 (GRCm39) |
Q84* |
probably null |
Het |
Myoz1 |
C |
T |
14: 20,700,722 (GRCm39) |
G165D |
probably benign |
Het |
Myt1 |
G |
A |
2: 181,439,413 (GRCm39) |
V312I |
probably benign |
Het |
Ndufb7 |
T |
C |
8: 84,293,606 (GRCm39) |
|
probably benign |
Het |
Numa1 |
C |
T |
7: 101,626,644 (GRCm39) |
T10M |
probably damaging |
Het |
Or10d1b |
T |
A |
9: 39,613,366 (GRCm39) |
H233L |
probably benign |
Het |
Or1e30 |
A |
C |
11: 73,677,790 (GRCm39) |
I9L |
probably benign |
Het |
Or2g7 |
A |
T |
17: 38,378,157 (GRCm39) |
I32F |
probably damaging |
Het |
Or4f14d |
A |
T |
2: 111,960,903 (GRCm39) |
D84E |
probably damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,585 (GRCm39) |
|
noncoding transcript |
Het |
Osmr |
A |
T |
15: 6,856,756 (GRCm39) |
S464T |
probably benign |
Het |
Pak5 |
G |
A |
2: 135,925,149 (GRCm39) |
H718Y |
probably damaging |
Het |
Pan2 |
T |
A |
10: 128,150,864 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
T |
C |
9: 105,546,208 (GRCm39) |
S853P |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Polr3gl |
T |
A |
3: 96,485,795 (GRCm39) |
|
probably benign |
Het |
Psd2 |
G |
A |
18: 36,112,863 (GRCm39) |
R186Q |
possibly damaging |
Het |
Psd4 |
T |
C |
2: 24,295,450 (GRCm39) |
V868A |
probably benign |
Het |
Ralgapa2 |
G |
T |
2: 146,254,004 (GRCm39) |
T852K |
probably benign |
Het |
Rbm43 |
T |
C |
2: 51,822,435 (GRCm39) |
|
probably benign |
Het |
Rps6kl1 |
C |
A |
12: 85,186,122 (GRCm39) |
G329C |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,317,423 (GRCm39) |
T714A |
probably benign |
Het |
Selenoo |
C |
A |
15: 88,978,508 (GRCm39) |
N310K |
possibly damaging |
Het |
Sepsecs |
T |
C |
5: 52,818,003 (GRCm39) |
Q258R |
probably damaging |
Het |
Sgcz |
T |
C |
8: 37,993,420 (GRCm39) |
S226G |
probably benign |
Het |
Slfn5 |
A |
G |
11: 82,851,754 (GRCm39) |
K627E |
probably damaging |
Het |
Sos1 |
A |
T |
17: 80,715,677 (GRCm39) |
F1027I |
probably damaging |
Het |
Ssh1 |
C |
G |
5: 114,095,459 (GRCm39) |
V228L |
possibly damaging |
Het |
Sugp1 |
C |
A |
8: 70,501,317 (GRCm39) |
P65T |
probably benign |
Het |
Tas2r106 |
T |
A |
6: 131,655,779 (GRCm39) |
N24I |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,459,272 (GRCm39) |
E534G |
possibly damaging |
Het |
Tmem182 |
C |
T |
1: 40,894,061 (GRCm39) |
T192I |
possibly damaging |
Het |
Traf7 |
T |
A |
17: 24,737,718 (GRCm39) |
K51* |
probably null |
Het |
Trap1 |
C |
A |
16: 3,861,952 (GRCm39) |
R604L |
probably damaging |
Het |
Trim6 |
T |
A |
7: 103,877,447 (GRCm39) |
L179Q |
probably damaging |
Het |
Ubfd1 |
T |
C |
7: 121,670,973 (GRCm39) |
S264P |
probably damaging |
Het |
Upk3bl |
T |
C |
5: 136,093,045 (GRCm39) |
|
probably benign |
Het |
Wdfy3 |
T |
A |
5: 102,015,972 (GRCm39) |
Q2601L |
possibly damaging |
Het |
Wdr89 |
A |
G |
12: 75,679,412 (GRCm39) |
Y281H |
probably damaging |
Het |
Zfp286 |
A |
T |
11: 62,671,551 (GRCm39) |
M174K |
probably benign |
Het |
Zmym1 |
T |
C |
4: 126,945,230 (GRCm39) |
|
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 |
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 |
|
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'- AATTCAGTAGTCGCTGCCTTC -3'
(R):5'- TCTCTGATGGAAGTGGAAAGTG -3'
Sequencing Primer
(F):5'- GCCTTCTCTAACTTAGCTCTAAAAG -3'
(R):5'- TTTGGGCAAGAAGAGCATGG -3'
|
Posted On |
2016-06-15 |