Incidental Mutation 'R7558:Kif16b'
| ID |
584875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif16b
|
| Ensembl Gene |
ENSMUSG00000038844 |
| Gene Name |
kinesin family member 16B |
| Synonyms |
N-3 kinesin, 8430434E15Rik |
| MMRRC Submission |
045625-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142600746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 462
(D462E)
|
| 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: D462E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: D462E
| 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: D462E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230763
AA Change: D462E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
G |
T |
11: 23,466,285 (GRCm39) |
|
probably null |
Het |
| Adgrg6 |
A |
T |
10: 14,307,351 (GRCm39) |
M817K |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,058,297 (GRCm39) |
D53E |
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,558,755 (GRCm39) |
V283A |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,860,421 (GRCm39) |
Y1329H |
probably damaging |
Het |
| B3gnt9 |
T |
C |
8: 105,981,304 (GRCm39) |
Y28C |
probably benign |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Chrd |
T |
A |
16: 20,557,304 (GRCm39) |
V641E |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,419,460 (GRCm39) |
I198N |
probably damaging |
Het |
| Cplane1 |
C |
T |
15: 8,254,851 (GRCm39) |
R13C |
unknown |
Het |
| Dbndd2 |
T |
C |
2: 164,332,136 (GRCm39) |
S120P |
probably benign |
Het |
| Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,352,742 (GRCm39) |
M207V |
probably benign |
Het |
| Fignl2 |
T |
C |
15: 100,952,264 (GRCm39) |
E6G |
probably damaging |
Het |
| Fmod |
A |
G |
1: 133,968,731 (GRCm39) |
Y257C |
probably benign |
Het |
| Foxk2 |
T |
C |
11: 121,178,884 (GRCm39) |
S239P |
probably benign |
Het |
| Fstl5 |
C |
T |
3: 76,337,092 (GRCm39) |
T217I |
possibly damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gm45140 |
G |
A |
6: 87,798,511 (GRCm39) |
S34F |
|
Het |
| H2-Q6 |
A |
G |
17: 35,644,595 (GRCm39) |
E128G |
probably benign |
Het |
| Hmmr |
A |
G |
11: 40,624,156 (GRCm39) |
F11L |
probably damaging |
Het |
| Igfbpl1 |
G |
T |
4: 45,813,497 (GRCm39) |
N239K |
probably damaging |
Het |
| Itpr2 |
G |
T |
6: 146,292,363 (GRCm39) |
D443E |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,450,928 (GRCm39) |
I736F |
probably damaging |
Het |
| Kctd11 |
A |
T |
11: 69,770,416 (GRCm39) |
H207Q |
probably benign |
Het |
| Kif5a |
G |
A |
10: 127,083,948 (GRCm39) |
T81I |
probably damaging |
Het |
| Lemd2 |
C |
A |
17: 27,423,137 (GRCm39) |
A86S |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,231,948 (GRCm39) |
D1174G |
|
Het |
| Lrrc8b |
G |
T |
5: 105,629,577 (GRCm39) |
W641L |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,595,905 (GRCm39) |
C438R |
probably damaging |
Het |
| Marchf8 |
T |
C |
6: 116,380,526 (GRCm39) |
F126L |
possibly damaging |
Het |
| Nalcn |
C |
A |
14: 123,723,797 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,247,088 (GRCm39) |
T679S |
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,928 (GRCm39) |
Y65* |
probably null |
Het |
| Or5b3 |
T |
A |
19: 13,388,355 (GRCm39) |
C141S |
probably damaging |
Het |
| Otog |
C |
A |
7: 45,952,584 (GRCm39) |
P419Q |
probably damaging |
Het |
| Pabpc4 |
T |
G |
4: 123,188,413 (GRCm39) |
S341A |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,311,782 (GRCm39) |
H2006Q |
probably benign |
Het |
| Ppp2r5e |
A |
T |
12: 75,511,766 (GRCm39) |
V319D |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,391,628 (GRCm39) |
S969G |
possibly damaging |
Het |
| Rasal2 |
G |
A |
1: 157,003,406 (GRCm39) |
R436C |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,601,735 (GRCm39) |
F742I |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,329,746 (GRCm39) |
F7L |
|
Het |
| Slc14a2 |
A |
G |
18: 78,235,334 (GRCm39) |
I143T |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,762,651 (GRCm39) |
M430L |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 109,976,184 (GRCm39) |
T157K |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,204,991 (GRCm39) |
I375T |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,302 (GRCm39) |
I609V |
possibly damaging |
Het |
| Tnk2 |
C |
A |
16: 32,498,903 (GRCm39) |
Q739K |
probably benign |
Het |
| Trio |
T |
A |
15: 27,831,480 (GRCm39) |
I1340F |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,756,029 (GRCm39) |
F91L |
probably damaging |
Het |
| Vax1 |
T |
C |
19: 59,158,416 (GRCm39) |
T16A |
unknown |
Het |
| Vps13d |
T |
G |
4: 144,881,150 (GRCm39) |
H1481P |
|
Het |
| Zbtb7a |
A |
G |
10: 80,984,269 (GRCm39) |
*570W |
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 |
|
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 |
|
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'- CCCAAAGGCTCAAGGATTTGTTG -3'
(R):5'- GCCTGCCAGGTTTTAAAGTCC -3'
Sequencing Primer
(F):5'- AGGCTCAAGGATTTGTTGTATATTC -3'
(R):5'- GCCAGGTTTTAAAGTCCATTTTTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation