Incidental Mutation 'R9040:Kif16b'
| ID |
687651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif16b
|
| Ensembl Gene |
ENSMUSG00000038844 |
| Gene Name |
kinesin family member 16B |
| Synonyms |
N-3 kinesin, 8430434E15Rik |
| MMRRC Submission |
068867-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9040 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142691798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 229
(I229V)
|
| 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: I229V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: I229V
| 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: I229V
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230763
AA Change: I229V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
C |
8: 44,103,363 (GRCm39) |
|
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,671,466 (GRCm39) |
V391A |
probably damaging |
Het |
| Apba2 |
C |
T |
7: 64,393,072 (GRCm39) |
A531V |
possibly damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,070,414 (GRCm39) |
V227E |
probably damaging |
Het |
| Bbs7 |
A |
G |
3: 36,629,987 (GRCm39) |
V564A |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,382,793 (GRCm39) |
M141K |
possibly damaging |
Het |
| Cd200l1 |
C |
A |
16: 45,264,509 (GRCm39) |
K16N |
possibly damaging |
Het |
| Cdk9 |
C |
A |
2: 32,597,999 (GRCm39) |
Q352H |
probably benign |
Het |
| Chsy3 |
T |
C |
18: 59,542,760 (GRCm39) |
Y633H |
probably damaging |
Het |
| Cpz |
T |
A |
5: 35,672,835 (GRCm39) |
Y195F |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
| Dhodh |
A |
T |
8: 110,328,781 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,950,985 (GRCm39) |
S517N |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,889,364 (GRCm39) |
L175* |
probably null |
Het |
| Duxf1 |
A |
G |
10: 58,059,608 (GRCm39) |
I382T |
unknown |
Het |
| Ect2l |
A |
T |
10: 18,077,098 (GRCm39) |
S2T |
possibly damaging |
Het |
| Epn3 |
G |
A |
11: 94,382,749 (GRCm39) |
S445F |
possibly damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,764,438 (GRCm39) |
F1439S |
probably benign |
Het |
| Hormad1 |
A |
T |
3: 95,487,470 (GRCm39) |
E289D |
possibly damaging |
Het |
| Idua |
T |
C |
5: 108,828,929 (GRCm39) |
L391P |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,706,115 (GRCm39) |
A301E |
probably damaging |
Het |
| Kcnk10 |
C |
T |
12: 98,401,098 (GRCm39) |
E526K |
probably benign |
Het |
| Krt25 |
T |
C |
11: 99,207,379 (GRCm39) |
Y400C |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,222,093 (GRCm39) |
G405S |
probably benign |
Het |
| Krt42 |
G |
A |
11: 100,157,859 (GRCm39) |
R202W |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,644,910 (GRCm39) |
V547A |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,628,161 (GRCm39) |
L169P |
probably benign |
Het |
| Midn |
T |
A |
10: 79,989,918 (GRCm39) |
V262D |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,890,069 (GRCm39) |
I223F |
probably benign |
Het |
| Mtor |
C |
A |
4: 148,548,205 (GRCm39) |
A490E |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,556,082 (GRCm39) |
Q3404* |
probably null |
Het |
| Myo5a |
A |
T |
9: 75,081,341 (GRCm39) |
E975D |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,530,389 (GRCm39) |
Y764C |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,342,734 (GRCm39) |
L769P |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,722,995 (GRCm39) |
G27W |
probably benign |
Het |
| Pank4 |
C |
G |
4: 155,064,559 (GRCm39) |
T706R |
probably benign |
Het |
| Plxnc1 |
G |
T |
10: 94,779,379 (GRCm39) |
C354* |
probably null |
Het |
| Prkca |
A |
G |
11: 107,905,186 (GRCm39) |
I184T |
possibly damaging |
Het |
| Prune2 |
T |
C |
19: 17,097,991 (GRCm39) |
V1165A |
probably damaging |
Het |
| Psmc6 |
T |
A |
14: 45,581,111 (GRCm39) |
D302E |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,324,915 (GRCm39) |
L464P |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,403,268 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
T |
C |
11: 32,163,063 (GRCm39) |
T438A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,609,672 (GRCm39) |
R4385G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,784,731 (GRCm39) |
Y237H |
probably damaging |
Het |
| Scai |
G |
T |
2: 38,965,164 (GRCm39) |
T560K |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,148,245 (GRCm39) |
L80P |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,864,762 (GRCm39) |
L574P |
probably benign |
Het |
| Slc41a1 |
T |
G |
1: 131,768,623 (GRCm39) |
S194A |
probably damaging |
Het |
| Slc6a7 |
T |
C |
18: 61,134,360 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,594,136 (GRCm39) |
H1442R |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,808,790 (GRCm39) |
L281Q |
probably damaging |
Het |
| Steap2 |
A |
T |
5: 5,732,722 (GRCm39) |
W101R |
probably benign |
Het |
| Tfap2b |
C |
T |
1: 19,304,314 (GRCm39) |
R375W |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,572,967 (GRCm39) |
T233S |
probably benign |
Het |
| Traf3ip1 |
T |
A |
1: 91,429,092 (GRCm39) |
H286Q |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,457,960 (GRCm39) |
|
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,311 (GRCm39) |
I791T |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,229 (GRCm39) |
C256R |
probably benign |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,346,638 (GRCm39) |
N225Y |
probably benign |
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 |
|
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'- CACTGTGAGTATAGAAAGGCTGTG -3'
(R):5'- CATGGTTCTTAGAGGGAAGCC -3'
Sequencing Primer
(F):5'- GTGAGCACACAGCACATGC -3'
(R):5'- GAGGGAAGCCTCTCATTTAGTTCAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation