Incidental Mutation 'R4697:Kif16b'
| ID |
355753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif16b
|
| Ensembl Gene |
ENSMUSG00000038844 |
| Gene Name |
kinesin family member 16B |
| Synonyms |
8430434E15Rik, N-3 kinesin |
| MMRRC Submission |
041947-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4697 (G1)
|
| Quality Score |
214 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
142617474-142901531 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 142690694 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 1175
(Y1175S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000230763]
|
| AlphaFold |
B1AVY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043589
AA Change: Y1164S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: Y1164S
| 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: ENSMUST00000230763
AA Change: Y1175S
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (75/78) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624J02Rik |
T |
A |
7: 118,791,448 (GRCm38) |
I455N |
probably damaging |
Het |
| A2m |
T |
C |
6: 121,638,284 (GRCm38) |
M1T |
probably null |
Het |
| Aatf |
T |
A |
11: 84,449,138 (GRCm38) |
D449V |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,721,944 (GRCm38) |
|
probably benign |
Het |
| BC005561 |
A |
G |
5: 104,522,240 (GRCm38) |
K1543E |
probably benign |
Het |
| Bicc1 |
T |
A |
10: 70,953,484 (GRCm38) |
I366F |
possibly damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,649,749 (GRCm38) |
S184P |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,525,485 (GRCm38) |
V401A |
probably damaging |
Het |
| Cux2 |
T |
C |
5: 121,873,753 (GRCm38) |
T540A |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,791,684 (GRCm38) |
E966* |
probably null |
Het |
| Dpp7 |
A |
G |
2: 25,354,919 (GRCm38) |
Y209H |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,449,487 (GRCm38) |
F277Y |
probably damaging |
Het |
| Dtx1 |
A |
T |
5: 120,694,408 (GRCm38) |
|
probably null |
Het |
| Ear-ps2 |
G |
A |
14: 44,047,060 (GRCm38) |
|
noncoding transcript |
Het |
| Ednra |
T |
C |
8: 77,664,995 (GRCm38) |
H422R |
probably benign |
Het |
| Erlec1 |
T |
A |
11: 30,952,640 (GRCm38) |
I67F |
probably benign |
Het |
| Fam161b |
G |
A |
12: 84,348,558 (GRCm38) |
|
probably benign |
Het |
| Gata5 |
A |
T |
2: 180,327,379 (GRCm38) |
C345* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,328,274 (GRCm38) |
V47A |
probably damaging |
Het |
| Gm9762 |
T |
A |
3: 78,966,550 (GRCm38) |
|
noncoding transcript |
Het |
| Gnas |
A |
T |
2: 174,298,080 (GRCm38) |
D14V |
probably damaging |
Het |
| Gnl3 |
T |
C |
14: 31,017,329 (GRCm38) |
S53G |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,548,466 (GRCm38) |
V527M |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,694,187 (GRCm38) |
L281* |
probably null |
Het |
| Kif2b |
A |
G |
11: 91,576,846 (GRCm38) |
S204P |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,778,734 (GRCm38) |
I320N |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,708,147 (GRCm38) |
R693Q |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 71,025,326 (GRCm38) |
K62E |
possibly damaging |
Het |
| Mlc1 |
A |
G |
15: 88,974,777 (GRCm38) |
C102R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,857,361 (GRCm38) |
I1348T |
unknown |
Het |
| Myh7b |
A |
G |
2: 155,629,322 (GRCm38) |
E1130G |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,901,386 (GRCm38) |
T52A |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,320,521 (GRCm38) |
V379L |
probably benign |
Het |
| Olfr1231 |
T |
A |
2: 89,302,903 (GRCm38) |
S230C |
probably damaging |
Het |
| Olfr1231 |
C |
A |
2: 89,302,902 (GRCm38) |
S230I |
possibly damaging |
Het |
| Olfr1448 |
C |
T |
19: 12,919,934 (GRCm38) |
C125Y |
probably damaging |
Het |
| Olfr1465 |
A |
T |
19: 13,313,717 (GRCm38) |
D189E |
probably benign |
Het |
| Olfr288 |
G |
A |
15: 98,186,868 (GRCm38) |
R310W |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,717,208 (GRCm38) |
Y756F |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,959,241 (GRCm38) |
Y284N |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,126,347 (GRCm38) |
V1367A |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,375,071 (GRCm38) |
N484K |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 78,961,171 (GRCm38) |
V572I |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,787,183 (GRCm38) |
S1005G |
probably benign |
Het |
| Radil |
G |
T |
5: 142,486,801 (GRCm38) |
D951E |
probably benign |
Het |
| Ripk1 |
C |
T |
13: 34,027,942 (GRCm38) |
R352* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,212,747 (GRCm38) |
F4081L |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,315,085 (GRCm38) |
V11A |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,934,587 (GRCm38) |
F536I |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,638,284 (GRCm38) |
L381P |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,052,641 (GRCm38) |
P71L |
probably benign |
Het |
| Spns1 |
T |
A |
7: 126,377,037 (GRCm38) |
D14V |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 95,986,018 (GRCm38) |
I417F |
possibly damaging |
Het |
| Tas2r113 |
T |
A |
6: 132,893,516 (GRCm38) |
M169K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,705,681 (GRCm38) |
N567K |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,395,461 (GRCm38) |
R76Q |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,853,791 (GRCm38) |
V1340A |
probably benign |
Het |
| Tspan18 |
A |
T |
2: 93,312,030 (GRCm38) |
|
probably null |
Het |
| Txndc11 |
C |
T |
16: 11,084,314 (GRCm38) |
V679I |
probably damaging |
Het |
| Usf1 |
G |
T |
1: 171,416,964 (GRCm38) |
G144V |
possibly damaging |
Het |
| Vmn1r59 |
T |
C |
7: 5,454,452 (GRCm38) |
Y103C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,741,826 (GRCm38) |
I713F |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 87,037,960 (GRCm38) |
I850F |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 25,855,363 (GRCm38) |
R676H |
probably benign |
Het |
| Zfp867 |
G |
A |
11: 59,463,661 (GRCm38) |
R281W |
probably damaging |
Het |
| Zfp939 |
T |
C |
7: 39,472,942 (GRCm38) |
|
noncoding transcript |
Het |
|
| Other mutations in Kif16b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00466:Kif16b
|
APN |
2 |
142,848,035 (GRCm38) |
nonsense |
probably null |
|
|
IGL00499:Kif16b
|
APN |
2 |
142,857,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00913:Kif16b
|
APN |
2 |
142,704,007 (GRCm38) |
nonsense |
probably null |
|
|
IGL00971:Kif16b
|
APN |
2 |
142,711,744 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01712:Kif16b
|
APN |
2 |
142,648,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01965:Kif16b
|
APN |
2 |
142,848,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02428:Kif16b
|
APN |
2 |
142,672,360 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02576:Kif16b
|
APN |
2 |
142,862,545 (GRCm38) |
splice site |
probably benign |
|
|
IGL02884:Kif16b
|
APN |
2 |
142,702,614 (GRCm38) |
splice site |
probably benign |
|
|
IGL03065:Kif16b
|
APN |
2 |
142,619,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03103:Kif16b
|
APN |
2 |
142,862,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03403:Kif16b
|
APN |
2 |
142,711,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02835:Kif16b
|
UTSW |
2 |
142,712,213 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0058:Kif16b
|
UTSW |
2 |
142,857,305 (GRCm38) |
splice site |
probably null |
|
|
R0058:Kif16b
|
UTSW |
2 |
142,857,305 (GRCm38) |
splice site |
probably null |
|
|
R0081:Kif16b
|
UTSW |
2 |
142,707,426 (GRCm38) |
splice site |
probably benign |
|
|
R0123:Kif16b
|
UTSW |
2 |
142,672,375 (GRCm38) |
missense |
probably benign |
|
|
R0134:Kif16b
|
UTSW |
2 |
142,672,375 (GRCm38) |
missense |
probably benign |
|
|
R0388:Kif16b
|
UTSW |
2 |
142,740,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0396:Kif16b
|
UTSW |
2 |
142,853,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0502:Kif16b
|
UTSW |
2 |
142,712,155 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1027:Kif16b
|
UTSW |
2 |
142,854,538 (GRCm38) |
splice site |
probably benign |
|
|
R1674:Kif16b
|
UTSW |
2 |
142,712,953 (GRCm38) |
nonsense |
probably null |
|
|
R1752:Kif16b
|
UTSW |
2 |
142,690,666 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2154:Kif16b
|
UTSW |
2 |
142,690,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2262:Kif16b
|
UTSW |
2 |
142,740,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2401:Kif16b
|
UTSW |
2 |
142,756,122 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3951:Kif16b
|
UTSW |
2 |
142,707,359 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4161:Kif16b
|
UTSW |
2 |
142,707,404 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4747:Kif16b
|
UTSW |
2 |
142,857,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4808:Kif16b
|
UTSW |
2 |
142,857,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4878:Kif16b
|
UTSW |
2 |
142,848,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5068:Kif16b
|
UTSW |
2 |
142,711,707 (GRCm38) |
missense |
probably benign |
|
|
R5120:Kif16b
|
UTSW |
2 |
142,848,339 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5358:Kif16b
|
UTSW |
2 |
142,740,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5821:Kif16b
|
UTSW |
2 |
142,702,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5833:Kif16b
|
UTSW |
2 |
142,707,367 (GRCm38) |
missense |
probably benign |
|
|
R5882:Kif16b
|
UTSW |
2 |
142,707,258 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5974:Kif16b
|
UTSW |
2 |
142,857,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6043:Kif16b
|
UTSW |
2 |
142,711,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6230:Kif16b
|
UTSW |
2 |
142,849,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6373:Kif16b
|
UTSW |
2 |
142,699,698 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6472:Kif16b
|
UTSW |
2 |
142,699,948 (GRCm38) |
intron |
probably benign |
|
|
R6622:Kif16b
|
UTSW |
2 |
142,712,442 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6654:Kif16b
|
UTSW |
2 |
142,701,277 (GRCm38) |
intron |
probably benign |
|
|
R6912:Kif16b
|
UTSW |
2 |
142,700,099 (GRCm38) |
intron |
probably benign |
|
|
R7003:Kif16b
|
UTSW |
2 |
142,758,829 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7265:Kif16b
|
UTSW |
2 |
142,714,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7307:Kif16b
|
UTSW |
2 |
142,712,931 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7376:Kif16b
|
UTSW |
2 |
142,711,872 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7381:Kif16b
|
UTSW |
2 |
142,857,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7558:Kif16b
|
UTSW |
2 |
142,758,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7681:Kif16b
|
UTSW |
2 |
142,756,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7896:Kif16b
|
UTSW |
2 |
142,834,075 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7956:Kif16b
|
UTSW |
2 |
142,862,470 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8053:Kif16b
|
UTSW |
2 |
142,853,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8056:Kif16b
|
UTSW |
2 |
142,712,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8139:Kif16b
|
UTSW |
2 |
142,901,365 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8182:Kif16b
|
UTSW |
2 |
142,712,899 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8224:Kif16b
|
UTSW |
2 |
142,834,088 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8357:Kif16b
|
UTSW |
2 |
142,711,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8359:Kif16b
|
UTSW |
2 |
142,711,857 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8360:Kif16b
|
UTSW |
2 |
142,711,857 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8369:Kif16b
|
UTSW |
2 |
142,711,857 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8385:Kif16b
|
UTSW |
2 |
142,712,338 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8457:Kif16b
|
UTSW |
2 |
142,711,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8720:Kif16b
|
UTSW |
2 |
142,849,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8898:Kif16b
|
UTSW |
2 |
142,712,979 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8987:Kif16b
|
UTSW |
2 |
142,901,358 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8987:Kif16b
|
UTSW |
2 |
142,849,863 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9022:Kif16b
|
UTSW |
2 |
142,712,617 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9040:Kif16b
|
UTSW |
2 |
142,849,878 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9044:Kif16b
|
UTSW |
2 |
142,699,657 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9138:Kif16b
|
UTSW |
2 |
142,700,556 (GRCm38) |
missense |
|
|
|
R9167:Kif16b
|
UTSW |
2 |
142,700,920 (GRCm38) |
nonsense |
probably null |
|
|
R9218:Kif16b
|
UTSW |
2 |
142,699,663 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9283:Kif16b
|
UTSW |
2 |
142,712,980 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9300:Kif16b
|
UTSW |
2 |
142,699,287 (GRCm38) |
missense |
probably benign |
|
|
R9378:Kif16b
|
UTSW |
2 |
142,619,818 (GRCm38) |
nonsense |
probably null |
|
|
R9522:Kif16b
|
UTSW |
2 |
142,849,907 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9588:Kif16b
|
UTSW |
2 |
142,711,884 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9632:Kif16b
|
UTSW |
2 |
142,712,040 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9641:Kif16b
|
UTSW |
2 |
142,700,669 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0058:Kif16b
|
UTSW |
2 |
142,758,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Kif16b
|
UTSW |
2 |
142,711,824 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACACAGTCTTCAGGTTCTG -3'
(R):5'- CTAACTTCTGGGCTGGTCTG -3'
Sequencing Primer
(F):5'- CTGTTCTTCTAGAAGGATGACGAAG -3'
(R):5'- CCACAGACATGGTCTTTTGTTACGAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation