Incidental Mutation 'R5358:Kif16b'
| ID |
424146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif16b
|
| Ensembl Gene |
ENSMUSG00000038844 |
| Gene Name |
kinesin family member 16B |
| Synonyms |
N-3 kinesin, 8430434E15Rik |
| MMRRC Submission |
042937-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5358 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142582889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 545
(R545S)
|
| 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: R545S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: R545S
| 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: R545S
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230763
AA Change: R545S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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 |
|---|
| Abca7 |
T |
C |
10: 79,849,165 (GRCm39) |
V1842A |
probably damaging |
Het |
| Abi3 |
A |
T |
11: 95,732,934 (GRCm39) |
F13L |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,125,758 (GRCm39) |
K538R |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,342,581 (GRCm39) |
H191Y |
probably benign |
Het |
| Bicdl2 |
A |
G |
17: 23,886,538 (GRCm39) |
T376A |
probably benign |
Het |
| Ceacam18 |
C |
A |
7: 43,286,497 (GRCm39) |
N123K |
possibly damaging |
Het |
| Celsr3 |
C |
T |
9: 108,709,224 (GRCm39) |
R1357C |
possibly damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,148 (GRCm39) |
|
probably benign |
Het |
| Chmp7 |
A |
G |
14: 69,958,684 (GRCm39) |
V210A |
probably benign |
Het |
| Chrm2 |
A |
G |
6: 36,500,290 (GRCm39) |
K49R |
probably damaging |
Het |
| Ciao2b |
T |
C |
8: 105,368,282 (GRCm39) |
N14S |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,999,233 (GRCm39) |
L623* |
probably null |
Het |
| Ddx31 |
T |
A |
2: 28,753,782 (GRCm39) |
C448S |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,331 (GRCm39) |
S1507P |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 30,965,928 (GRCm39) |
T2420K |
probably damaging |
Het |
| Dyrk3 |
C |
T |
1: 131,057,432 (GRCm39) |
R247H |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,242,934 (GRCm39) |
E49G |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Foxj3 |
A |
G |
4: 119,476,596 (GRCm39) |
E258G |
probably damaging |
Het |
| Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,877,321 (GRCm39) |
E1106K |
probably damaging |
Het |
| Hip1 |
G |
T |
5: 135,465,252 (GRCm39) |
S385R |
probably benign |
Het |
| Igsf9 |
C |
T |
1: 172,312,078 (GRCm39) |
T8I |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Katnal2 |
A |
G |
18: 77,105,190 (GRCm39) |
Y86H |
possibly damaging |
Het |
| Kcnh6 |
A |
T |
11: 105,918,417 (GRCm39) |
I756F |
possibly damaging |
Het |
| Kdm5b |
C |
T |
1: 134,535,432 (GRCm39) |
R570* |
probably null |
Het |
| Kif21b |
T |
A |
1: 136,100,030 (GRCm39) |
I1528N |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,730,571 (GRCm39) |
|
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,507,597 (GRCm39) |
T60A |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,907 (GRCm39) |
K1466E |
probably damaging |
Het |
| Ntsr2 |
A |
C |
12: 16,704,083 (GRCm39) |
T109P |
probably damaging |
Het |
| Nup214 |
C |
A |
2: 31,907,158 (GRCm39) |
S995Y |
unknown |
Het |
| Or2a5 |
A |
T |
6: 42,873,454 (GRCm39) |
Q23L |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,762,750 (GRCm39) |
L456* |
probably null |
Het |
| Pde5a |
A |
G |
3: 122,541,825 (GRCm39) |
D105G |
probably damaging |
Het |
| Pik3c3 |
C |
A |
18: 30,456,597 (GRCm39) |
P709H |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rab3c |
T |
C |
13: 110,198,497 (GRCm39) |
N179S |
possibly damaging |
Het |
| Setdb2 |
T |
A |
14: 59,646,885 (GRCm39) |
R559S |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,042,469 (GRCm39) |
Y474H |
probably benign |
Het |
| Slc6a6 |
G |
T |
6: 91,712,155 (GRCm39) |
W228L |
probably benign |
Het |
| Slc8a2 |
T |
G |
7: 15,891,228 (GRCm39) |
I750S |
probably damaging |
Het |
| Slco2b1 |
T |
A |
7: 99,309,251 (GRCm39) |
I194L |
unknown |
Het |
| Smarcd1 |
C |
T |
15: 99,601,128 (GRCm39) |
Q45* |
probably null |
Het |
| Srcap |
T |
G |
7: 127,139,492 (GRCm39) |
L1271R |
probably damaging |
Het |
| Srsf12 |
A |
T |
4: 33,209,330 (GRCm39) |
N9Y |
probably damaging |
Het |
| St7 |
T |
C |
6: 17,819,317 (GRCm39) |
S74P |
probably damaging |
Het |
| Stxbp5l |
T |
A |
16: 36,994,688 (GRCm39) |
E739V |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,981,496 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,047,033 (GRCm39) |
H545R |
possibly damaging |
Het |
| Tcp11 |
A |
T |
17: 28,296,994 (GRCm39) |
C133S |
probably benign |
Het |
| Tm6sf2 |
T |
C |
8: 70,526,939 (GRCm39) |
V36A |
possibly damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,717 (GRCm39) |
Y244C |
probably damaging |
Het |
| Tra2a |
A |
T |
6: 49,227,949 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,903,332 (GRCm39) |
I1031F |
probably damaging |
Het |
| Ttll3 |
A |
G |
6: 113,378,292 (GRCm39) |
K381E |
probably benign |
Het |
| Uaca |
T |
C |
9: 60,778,430 (GRCm39) |
V937A |
probably benign |
Het |
| Umod |
C |
T |
7: 119,071,577 (GRCm39) |
G388D |
probably damaging |
Het |
| Vmn2r90 |
G |
A |
17: 17,924,412 (GRCm39) |
|
probably null |
Het |
| Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
| Zfp644 |
G |
A |
5: 106,783,541 (GRCm39) |
T1002I |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,819,131 (GRCm39) |
Y287H |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,644,771 (GRCm39) |
T1144A |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,361,352 (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 |
|
|
R5120:Kif16b
|
UTSW |
2 |
142,690,259 (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'- CTGAGCTGTTCCAGGACTTC -3'
(R):5'- CGTCACCTTTGCCTAGGTTG -3'
Sequencing Primer
(F):5'- GTTCCAGGACTTCCTTGCTAAAG -3'
(R):5'- TAAAATTAGCTTCCATGGGCGAGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation