Incidental Mutation 'R8898:Kif16b'
| ID |
678150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif16b
|
| Ensembl Gene |
ENSMUSG00000038844 |
| Gene Name |
kinesin family member 16B |
| Synonyms |
N-3 kinesin, 8430434E15Rik |
| MMRRC Submission |
068755-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8898 (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 G
at 142554899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 633
(M633T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000211861]
[ENSMUST00000230763]
|
| AlphaFold |
B1AVY7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043589
AA Change: M633T
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: M633T
| 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: M633T
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230763
AA Change: M644T
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.0949 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,383,001 (GRCm39) |
L988* |
probably null |
Het |
| 4930546C10Rik |
A |
G |
18: 69,083,106 (GRCm39) |
F36S |
unknown |
Het |
| Acan |
C |
A |
7: 78,750,101 (GRCm39) |
T1624K |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,613,051 (GRCm39) |
|
probably null |
Het |
| Ankrd24 |
T |
C |
10: 81,478,352 (GRCm39) |
I437T |
unknown |
Het |
| Arl4d |
C |
T |
11: 101,557,827 (GRCm39) |
R118W |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,306,721 (GRCm39) |
|
probably benign |
Het |
| Bcan |
T |
C |
3: 87,895,695 (GRCm39) |
T814A |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,492,498 (GRCm39) |
M3171K |
possibly damaging |
Het |
| Cd209a |
T |
A |
8: 3,798,739 (GRCm39) |
S23C |
probably damaging |
Het |
| Chek2 |
A |
T |
5: 111,011,175 (GRCm39) |
K324N |
probably benign |
Het |
| Col12a1 |
C |
T |
9: 79,599,577 (GRCm39) |
V859I |
probably benign |
Het |
| Cyp7b1 |
C |
T |
3: 18,150,788 (GRCm39) |
R317H |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,308,941 (GRCm39) |
S1937P |
probably benign |
Het |
| Epb41l1 |
T |
G |
2: 156,335,869 (GRCm39) |
V11G |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,858,822 (GRCm39) |
P3798L |
probably benign |
Het |
| Foxd1 |
T |
A |
13: 98,491,596 (GRCm39) |
C157S |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,058 (GRCm39) |
Q442R |
probably benign |
Het |
| Gm17019 |
A |
C |
5: 15,081,798 (GRCm39) |
M47R |
possibly damaging |
Het |
| Gpr179 |
C |
A |
11: 97,242,329 (GRCm39) |
E172* |
probably null |
Het |
| Grhl1 |
G |
A |
12: 24,634,945 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
T |
5: 134,226,106 (GRCm39) |
E184V |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,576,766 (GRCm39) |
I813V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,715,379 (GRCm39) |
L385Q |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,376 (GRCm39) |
T726I |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,145,206 (GRCm39) |
S916G |
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,935,175 (GRCm39) |
F396I |
probably damaging |
Het |
| Klf5 |
T |
A |
14: 99,538,922 (GRCm39) |
F112I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,610 (GRCm39) |
Q2989L |
|
Het |
| Lrrc28 |
C |
A |
7: 67,278,042 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,859,931 (GRCm39) |
T739A |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,355,914 (GRCm39) |
R80* |
probably null |
Het |
| Mctp2 |
T |
C |
7: 71,752,904 (GRCm39) |
E783G |
probably damaging |
Het |
| Mill2 |
A |
T |
7: 18,590,489 (GRCm39) |
M190L |
probably benign |
Het |
| N4bp3 |
T |
C |
11: 51,535,256 (GRCm39) |
N311S |
probably benign |
Het |
| Nanos2 |
A |
T |
7: 18,721,549 (GRCm39) |
D7V |
probably damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
| Nexn |
T |
C |
3: 151,948,306 (GRCm39) |
N483S |
probably benign |
Het |
| Nlrp1b |
T |
G |
11: 71,073,288 (GRCm39) |
E185A |
probably damaging |
Het |
| Nop2 |
C |
A |
6: 125,114,118 (GRCm39) |
Q195K |
probably benign |
Het |
| Or4a15 |
A |
G |
2: 89,192,957 (GRCm39) |
V272A |
possibly damaging |
Het |
| Or4n4 |
G |
A |
14: 50,518,952 (GRCm39) |
P253S |
probably damaging |
Het |
| Pde12 |
G |
A |
14: 26,390,577 (GRCm39) |
S44L |
probably benign |
Het |
| Pde1c |
A |
T |
6: 56,114,371 (GRCm39) |
V514E |
probably damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,334 (GRCm39) |
V316D |
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,387,578 (GRCm39) |
I208F |
possibly damaging |
Het |
| Raver2 |
G |
A |
4: 100,964,399 (GRCm39) |
|
probably null |
Het |
| Rpl13a-ps1 |
T |
A |
19: 50,018,747 (GRCm39) |
H143L |
probably benign |
Het |
| Septin14 |
A |
T |
5: 129,760,642 (GRCm39) |
I402K |
possibly damaging |
Het |
| Sla2 |
T |
A |
2: 156,717,885 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Smarca2 |
TGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCA |
19: 26,608,358 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,911,567 (GRCm39) |
S1448P |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,695,273 (GRCm39) |
R604H |
probably damaging |
Het |
| Speg |
G |
A |
1: 75,365,517 (GRCm39) |
G633S |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Syt11 |
T |
C |
3: 88,669,335 (GRCm39) |
M186V |
probably benign |
Het |
| Tex26 |
C |
A |
5: 149,380,369 (GRCm39) |
N133K |
probably benign |
Het |
| Tnfrsf17 |
T |
C |
16: 11,131,910 (GRCm39) |
C32R |
probably damaging |
Het |
| Trem1 |
T |
A |
17: 48,544,374 (GRCm39) |
V133E |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,664,661 (GRCm39) |
M906K |
possibly damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,159,189 (GRCm39) |
I461K |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,430 (GRCm39) |
C28S |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,522,525 (GRCm39) |
|
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 |
|
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'- GCGGAATAAGCTCTCTTCCTC -3'
(R):5'- CTAGGTAGCTGAAACACTGGAC -3'
Sequencing Primer
(F):5'- CTGCTGCTCGAGTCCCTG -3'
(R):5'- AAGAGAAGCACTTTCTTTTCATTTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation