Incidental Mutation 'R7307:Kif16b'
ID |
567291 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif16b
|
Ensembl Gene |
ENSMUSG00000038844 |
Gene Name |
kinesin family member 16B |
Synonyms |
N-3 kinesin, 8430434E15Rik |
MMRRC Submission |
045366-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7307 (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 142554851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 649
(R649Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042551
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000211861]
[ENSMUST00000230763]
|
AlphaFold |
B1AVY7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043589
AA Change: R649Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000042551 Gene: ENSMUSG00000038844 AA Change: R649Q
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: R649Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230763
AA Change: R660Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (75/75) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610318N02Rik |
G |
A |
16: 16,936,259 (GRCm39) |
P155L |
probably benign |
Het |
Adamts12 |
G |
T |
15: 11,217,899 (GRCm39) |
L285F |
probably damaging |
Het |
Ankrd6 |
A |
T |
4: 32,816,949 (GRCm39) |
Y393N |
possibly damaging |
Het |
Arhgap45 |
A |
G |
10: 79,865,016 (GRCm39) |
Q993R |
probably benign |
Het |
Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
B4galnt3 |
T |
C |
6: 120,192,392 (GRCm39) |
D448G |
probably benign |
Het |
Capn1 |
C |
G |
19: 6,043,938 (GRCm39) |
E564D |
possibly damaging |
Het |
Ccdc85a |
A |
G |
11: 28,349,384 (GRCm39) |
S474P |
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,140,626 (GRCm39) |
L1289* |
probably null |
Het |
Cramp1 |
A |
T |
17: 25,193,719 (GRCm39) |
N920K |
possibly damaging |
Het |
Cubn |
C |
T |
2: 13,345,143 (GRCm39) |
S2091N |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,273,960 (GRCm39) |
I581N |
probably damaging |
Het |
Dnm2 |
A |
T |
9: 21,396,983 (GRCm39) |
N487Y |
probably damaging |
Het |
Enc1 |
A |
C |
13: 97,381,601 (GRCm39) |
N37T |
probably damaging |
Het |
Ephb3 |
T |
G |
16: 21,040,976 (GRCm39) |
I932S |
probably benign |
Het |
Frk |
T |
A |
10: 34,467,934 (GRCm39) |
M316K |
probably damaging |
Het |
Gdap2 |
C |
T |
3: 100,109,349 (GRCm39) |
R25C |
unknown |
Het |
Gpat2 |
T |
A |
2: 127,276,810 (GRCm39) |
D671E |
probably damaging |
Het |
Gpr179 |
C |
T |
11: 97,229,672 (GRCm39) |
E828K |
probably benign |
Het |
Greb1l |
T |
C |
18: 10,538,142 (GRCm39) |
Y1052H |
probably damaging |
Het |
Gtf2f1 |
C |
T |
17: 57,314,833 (GRCm39) |
S69N |
probably damaging |
Het |
Hid1 |
A |
C |
11: 115,239,308 (GRCm39) |
I785S |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,233,093 (GRCm39) |
I214T |
probably damaging |
Het |
Hsd3b5 |
G |
T |
3: 98,527,085 (GRCm39) |
F120L |
probably damaging |
Het |
Kif17 |
A |
T |
4: 137,989,954 (GRCm39) |
E47D |
probably benign |
Het |
Kmt2b |
T |
C |
7: 30,279,896 (GRCm39) |
H1368R |
probably damaging |
Het |
Kmt2d |
A |
T |
15: 98,747,299 (GRCm39) |
S3342T |
unknown |
Het |
Krt82 |
A |
G |
15: 101,451,342 (GRCm39) |
C356R |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,794,156 (GRCm39) |
K407E |
probably benign |
Het |
Malt1 |
T |
A |
18: 65,584,640 (GRCm39) |
H325Q |
possibly damaging |
Het |
Mccc2 |
T |
G |
13: 100,125,108 (GRCm39) |
D187A |
possibly damaging |
Het |
Mgll |
T |
A |
6: 88,791,103 (GRCm39) |
|
probably null |
Het |
Mindy2 |
T |
G |
9: 70,518,241 (GRCm39) |
E449A |
possibly damaging |
Het |
Muc5b |
G |
A |
7: 141,396,031 (GRCm39) |
V96M |
unknown |
Het |
Nlrp4e |
A |
G |
7: 23,020,953 (GRCm39) |
E480G |
probably benign |
Het |
Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
Or13a26 |
G |
A |
7: 140,285,060 (GRCm39) |
V299I |
probably benign |
Het |
Or1j4 |
G |
A |
2: 36,740,137 (GRCm39) |
M26I |
probably benign |
Het |
Or4g7 |
A |
T |
2: 111,309,105 (GRCm39) |
|
probably benign |
Het |
Or52a20 |
G |
T |
7: 103,366,173 (GRCm39) |
R124L |
probably damaging |
Het |
Pcdhb6 |
A |
T |
18: 37,468,531 (GRCm39) |
H484L |
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,605,344 (GRCm39) |
T604A |
possibly damaging |
Het |
Pitpnm3 |
G |
T |
11: 71,961,790 (GRCm39) |
A275D |
probably damaging |
Het |
Polr2a |
A |
T |
11: 69,638,118 (GRCm39) |
|
probably null |
Het |
Polr3a |
A |
G |
14: 24,510,055 (GRCm39) |
C960R |
probably benign |
Het |
Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
Pramel11 |
A |
C |
4: 143,623,345 (GRCm39) |
Y276* |
probably null |
Het |
Pramel51 |
A |
C |
12: 88,148,519 (GRCm39) |
C32W |
probably damaging |
Het |
Psmc4 |
A |
G |
7: 27,742,085 (GRCm39) |
V303A |
probably benign |
Het |
Ptdss2 |
A |
G |
7: 140,731,645 (GRCm39) |
N151S |
possibly damaging |
Het |
Ptprk |
T |
A |
10: 28,465,004 (GRCm39) |
Y1295* |
probably null |
Het |
Rbm19 |
A |
G |
5: 120,324,283 (GRCm39) |
K881E |
possibly damaging |
Het |
Rcan2 |
T |
A |
17: 44,331,993 (GRCm39) |
Y183* |
probably null |
Het |
Rnd1 |
T |
C |
15: 98,568,680 (GRCm39) |
E166G |
probably damaging |
Het |
Rnf113a2 |
T |
A |
12: 84,464,953 (GRCm39) |
C282S |
probably damaging |
Het |
S100b |
G |
A |
10: 76,092,926 (GRCm39) |
G20R |
probably benign |
Het |
Sae1 |
G |
T |
7: 16,102,469 (GRCm39) |
Y168* |
probably null |
Het |
Samd9l |
C |
A |
6: 3,372,600 (GRCm39) |
G1554* |
probably null |
Het |
Samhd1 |
T |
C |
2: 156,976,940 (GRCm39) |
S55G |
probably benign |
Het |
Sgsm1 |
T |
C |
5: 113,421,512 (GRCm39) |
D525G |
probably benign |
Het |
Slc28a3 |
A |
T |
13: 58,710,986 (GRCm39) |
M512K |
probably damaging |
Het |
Slc9b2 |
T |
A |
3: 135,024,151 (GRCm39) |
N67K |
probably benign |
Het |
Smarca4 |
T |
A |
9: 21,550,096 (GRCm39) |
I402N |
probably damaging |
Het |
St7l |
T |
C |
3: 104,796,669 (GRCm39) |
F261L |
probably benign |
Het |
Syde2 |
T |
A |
3: 145,721,553 (GRCm39) |
V1140D |
probably damaging |
Het |
Syt6 |
T |
A |
3: 103,494,788 (GRCm39) |
I251N |
probably damaging |
Het |
Taok2 |
T |
C |
7: 126,465,990 (GRCm39) |
E916G |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,289,288 (GRCm39) |
S426P |
probably damaging |
Het |
Thra |
T |
C |
11: 98,655,134 (GRCm39) |
I338T |
probably damaging |
Het |
Trub1 |
A |
T |
19: 57,461,135 (GRCm39) |
Y137F |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,841,691 (GRCm39) |
F2574L |
probably benign |
Het |
Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
Zc3h13 |
T |
A |
14: 75,567,981 (GRCm39) |
D1091E |
probably damaging |
Het |
Zdhhc6 |
A |
G |
19: 55,301,682 (GRCm39) |
Y100H |
probably damaging |
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 |
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'- GGACCTTCTCAGCTTGTTCG -3'
(R):5'- TCCAGTTAGGGAGAAGTTGGAC -3'
Sequencing Primer
(F):5'- AGCTCTTGGAGTTTGCGAAGC -3'
(R):5'- TTGGACTGATGCTAAGCACAGTG -3'
|
Posted On |
2019-06-26 |