Incidental Mutation 'R9641:Kif16b'
| ID |
725964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif16b
|
| Ensembl Gene |
ENSMUSG00000038844 |
| Gene Name |
kinesin family member 16B |
| Synonyms |
N-3 kinesin, 8430434E15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9641 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142542589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 236
(F236L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000211861]
[ENSMUST00000230763]
|
| AlphaFold |
B1AVY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043589
|
| SMART Domains |
Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212106
AA Change: F236L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230763
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,430,498 (GRCm39) |
F52L |
possibly damaging |
Het |
| Abca16 |
T |
C |
7: 120,126,308 (GRCm39) |
C1156R |
possibly damaging |
Het |
| Abcg3 |
A |
C |
5: 105,084,483 (GRCm39) |
S571A |
probably benign |
Het |
| Abi3 |
C |
A |
11: 95,724,503 (GRCm39) |
L259F |
unknown |
Het |
| Adam19 |
A |
T |
11: 46,027,149 (GRCm39) |
D594V |
probably damaging |
Het |
| Adam34 |
C |
T |
8: 44,104,076 (GRCm39) |
S523N |
probably damaging |
Het |
| Adam6b |
G |
T |
12: 113,454,176 (GRCm39) |
C331F |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,106,829 (GRCm39) |
V97E |
probably damaging |
Het |
| Adipor1 |
T |
C |
1: 134,355,878 (GRCm39) |
Y226H |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,261 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,740,692 (GRCm39) |
D160G |
possibly damaging |
Het |
| Ap1m1 |
A |
T |
8: 73,003,606 (GRCm39) |
Y94F |
probably damaging |
Het |
| Arhgef28 |
A |
C |
13: 98,078,983 (GRCm39) |
D1314E |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,863,772 (GRCm39) |
I90T |
probably benign |
Het |
| Celf6 |
A |
G |
9: 59,485,833 (GRCm39) |
D58G |
probably damaging |
Het |
| Cfap74 |
T |
C |
4: 155,549,054 (GRCm39) |
S38P |
unknown |
Het |
| Cps1 |
A |
G |
1: 67,234,342 (GRCm39) |
I910V |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,663,592 (GRCm39) |
A769T |
possibly damaging |
Het |
| Crybg2 |
C |
T |
4: 133,816,620 (GRCm39) |
Q1353* |
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,705,982 (GRCm39) |
Y358H |
probably damaging |
Het |
| Dcp1a |
T |
A |
14: 30,241,132 (GRCm39) |
I314N |
probably damaging |
Het |
| Dgki |
A |
C |
6: 37,126,489 (GRCm39) |
W164G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,932,029 (GRCm39) |
I1466V |
probably benign |
Het |
| Efcab6 |
T |
A |
15: 83,763,676 (GRCm39) |
R1219W |
probably damaging |
Het |
| Faap24 |
A |
T |
7: 35,094,494 (GRCm39) |
F102Y |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,244 (GRCm39) |
T2667A |
probably benign |
Het |
| Frem1 |
C |
T |
4: 82,877,653 (GRCm39) |
G1308D |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,816,047 (GRCm39) |
T1347A |
probably benign |
Het |
| Hipk3 |
A |
T |
2: 104,267,376 (GRCm39) |
H620Q |
probably benign |
Het |
| Hpd |
A |
G |
5: 123,310,052 (GRCm39) |
S391P |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,275,965 (GRCm39) |
V437A |
probably benign |
Het |
| Itgax |
G |
T |
7: 127,741,152 (GRCm39) |
G785C |
probably damaging |
Het |
| Kcnk18 |
C |
T |
19: 59,223,266 (GRCm39) |
T137I |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,337,457 (GRCm39) |
M396T |
probably damaging |
Het |
| Lrfn5 |
C |
A |
12: 61,886,540 (GRCm39) |
N109K |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,093,006 (GRCm39) |
N111I |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,671,251 (GRCm39) |
I2011F |
possibly damaging |
Het |
| Lsr |
A |
G |
7: 30,658,285 (GRCm39) |
I336T |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,250,351 (GRCm39) |
R18S |
probably benign |
Het |
| Mrpl22 |
T |
C |
11: 58,068,047 (GRCm39) |
L115P |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,948,035 (GRCm39) |
S222T |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,522 (GRCm39) |
T211A |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,350,247 (GRCm39) |
I2432N |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,112,783 (GRCm39) |
I1158T |
|
Het |
| Nrip3 |
C |
T |
7: 109,362,793 (GRCm39) |
E164K |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,742 (GRCm39) |
Q45* |
probably null |
Het |
| Ola1 |
T |
C |
2: 73,033,784 (GRCm39) |
N44D |
probably benign |
Het |
| Or1x6 |
C |
T |
11: 50,939,207 (GRCm39) |
T91M |
probably benign |
Het |
| Or2y1c |
T |
C |
11: 49,361,509 (GRCm39) |
F177S |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,100 (GRCm39) |
M183K |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,980,255 (GRCm39) |
I36N |
possibly damaging |
Het |
| Or5p81 |
A |
T |
7: 108,267,516 (GRCm39) |
N298Y |
probably damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,742,771 (GRCm39) |
F31L |
probably benign |
Het |
| Or8b51 |
T |
A |
9: 38,568,915 (GRCm39) |
M258L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,197,816 (GRCm39) |
K753R |
|
Het |
| Phldb1 |
T |
C |
9: 44,627,839 (GRCm39) |
D202G |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,955,789 (GRCm39) |
N376S |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,130 (GRCm39) |
N472D |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,567,811 (GRCm39) |
F708Y |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,303,576 (GRCm39) |
V12A |
probably benign |
Het |
| Saa3 |
T |
C |
7: 46,364,494 (GRCm39) |
I11V |
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,550,882 (GRCm39) |
E771G |
probably damaging |
Het |
| Sar1b |
C |
T |
11: 51,670,573 (GRCm39) |
T39I |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,445,869 (GRCm39) |
L1428Q |
possibly damaging |
Het |
| Sema3f |
A |
G |
9: 107,565,454 (GRCm39) |
I213T |
unknown |
Het |
| Serpina3m |
C |
T |
12: 104,360,085 (GRCm39) |
Q386* |
probably null |
Het |
| Sh3gl3 |
G |
A |
7: 81,909,370 (GRCm39) |
G26R |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,550,633 (GRCm39) |
E435G |
probably damaging |
Het |
| Sidt2 |
G |
T |
9: 45,864,495 (GRCm39) |
A78E |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,477,187 (GRCm39) |
Y818C |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,656,498 (GRCm39) |
L825F |
possibly damaging |
Het |
| Srgn |
T |
A |
10: 62,330,884 (GRCm39) |
M74L |
probably benign |
Het |
| Tbc1d22b |
A |
C |
17: 29,813,747 (GRCm39) |
D360A |
possibly damaging |
Het |
| Tbx4 |
A |
G |
11: 85,803,128 (GRCm39) |
R335G |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,734,200 (GRCm39) |
N168D |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,859,957 (GRCm39) |
Q307* |
probably null |
Het |
| Ttyh2 |
T |
C |
11: 114,598,516 (GRCm39) |
Y296H |
probably damaging |
Het |
| Vmn1r236 |
G |
T |
17: 21,507,043 (GRCm39) |
V54F |
probably benign |
Het |
| Xrra1 |
A |
C |
7: 99,561,088 (GRCm39) |
H443P |
probably benign |
Het |
| Zc3h12a |
T |
C |
4: 125,014,852 (GRCm39) |
T211A |
probably damaging |
Het |
| Zfp386 |
T |
G |
12: 116,023,330 (GRCm39) |
D349E |
probably benign |
Het |
| Zkscan16 |
T |
A |
4: 58,956,577 (GRCm39) |
H286Q |
probably benign |
Het |
| Znrf2 |
C |
T |
6: 54,861,788 (GRCm39) |
P233L |
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 |
|
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 |
|
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'- TGGGGTAAGTGCTCCAATAATG -3'
(R):5'- GTTGCAACACGTGTCACAGC -3'
Sequencing Primer
(F):5'- CCAATAATGGCAGGCCTCTGATG -3'
(R):5'- GCGCTTTGTTCTCTCTGAAAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation