Incidental Mutation 'R9218:Kif16b'
| ID |
699294 |
| 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 # |
R9218 (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 A
at 142541583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 1239
(E1239V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148731
(fasta)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000211861
AA Change: E1239V
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230763
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
93% (57/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,610,460 (GRCm39) |
T378A |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,977,960 (GRCm39) |
M513V |
probably benign |
Het |
| Abhd18 |
T |
C |
3: 40,871,201 (GRCm39) |
|
probably null |
Het |
| Adamtsl4 |
A |
T |
3: 95,588,404 (GRCm39) |
Y561* |
probably null |
Het |
| Alx4 |
T |
A |
2: 93,473,172 (GRCm39) |
F57I |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,584,959 (GRCm39) |
|
probably null |
Het |
| Arsj |
A |
C |
3: 126,232,114 (GRCm39) |
N287H |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,114,529 (GRCm39) |
C1387S |
probably benign |
Het |
| Cabp4 |
T |
A |
19: 4,188,693 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
C |
T |
7: 130,863,728 (GRCm39) |
H1244Y |
unknown |
Het |
| Cdh6 |
T |
C |
15: 13,057,556 (GRCm39) |
N255S |
probably null |
Het |
| Ctrb1 |
C |
T |
8: 112,416,140 (GRCm39) |
V49M |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,716,583 (GRCm39) |
S18P |
possibly damaging |
Het |
| Dcst1 |
A |
T |
3: 89,272,412 (GRCm39) |
I17N |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,507,592 (GRCm39) |
H823Y |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,651,066 (GRCm39) |
L84R |
possibly damaging |
Het |
| Dock9 |
G |
T |
14: 121,905,871 (GRCm39) |
T93K |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,823,062 (GRCm39) |
P6265L |
probably damaging |
Het |
| Fxn |
T |
A |
19: 24,239,388 (GRCm39) |
K168M |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,922,203 (GRCm39) |
L541P |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,354 (GRCm39) |
H364R |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Inf2 |
G |
A |
12: 112,567,858 (GRCm39) |
D163N |
possibly damaging |
Het |
| Iqcd |
C |
T |
5: 120,738,707 (GRCm39) |
P175L |
possibly damaging |
Het |
| Iqck |
C |
T |
7: 118,540,902 (GRCm39) |
A267V |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,135,938 (GRCm39) |
N66I |
unknown |
Het |
| Mctp1 |
A |
G |
13: 76,871,816 (GRCm39) |
D362G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,361,098 (GRCm39) |
S1470T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,183,638 (GRCm39) |
|
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,312 (GRCm39) |
L151* |
probably null |
Het |
| Or4e1 |
A |
T |
14: 52,700,788 (GRCm39) |
V226E |
probably damaging |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,373 (GRCm39) |
I230T |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,542,469 (GRCm39) |
Q693L |
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,265,344 (GRCm39) |
S753F |
probably damaging |
Het |
| Pkd1l3 |
C |
A |
8: 110,382,128 (GRCm39) |
S1632* |
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,384,122 (GRCm39) |
T1171A |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,501 (GRCm39) |
F104L |
probably damaging |
Het |
| Pmaip1 |
A |
G |
18: 66,596,370 (GRCm39) |
R80G |
probably damaging |
Het |
| Pms2 |
G |
A |
5: 143,867,945 (GRCm39) |
V850I |
probably benign |
Het |
| Psmd5 |
G |
T |
2: 34,747,794 (GRCm39) |
Q288K |
probably benign |
Het |
| Rab37 |
G |
A |
11: 115,051,475 (GRCm39) |
R194H |
probably damaging |
Het |
| Sds |
C |
T |
5: 120,621,677 (GRCm39) |
A273V |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,890,480 (GRCm39) |
S776P |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,101 (GRCm39) |
C65R |
probably benign |
Het |
| Siglece |
C |
T |
7: 43,307,162 (GRCm39) |
R275H |
possibly damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,335,623 (GRCm39) |
A318T |
probably damaging |
Het |
| Smcr8 |
A |
T |
11: 60,670,705 (GRCm39) |
I618L |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,670,556 (GRCm39) |
F72L |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,154,049 (GRCm39) |
K135E |
possibly damaging |
Het |
| Tmem62 |
A |
G |
2: 120,835,224 (GRCm39) |
I516M |
probably benign |
Het |
| Tnpo2 |
C |
A |
8: 85,776,609 (GRCm39) |
H439N |
possibly damaging |
Het |
| Tut4 |
A |
T |
4: 108,370,083 (GRCm39) |
K661* |
probably null |
Het |
| Txlnb |
C |
T |
10: 17,718,570 (GRCm39) |
S467F |
probably damaging |
Het |
| Tyw5 |
G |
A |
1: 57,435,948 (GRCm39) |
P81S |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vmn1r220 |
T |
A |
13: 23,368,609 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,270 (GRCm39) |
T699A |
possibly damaging |
Het |
| Vps9d1 |
G |
A |
8: 123,977,674 (GRCm39) |
T87I |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,520,501 (GRCm39) |
V541A |
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,809,415 (GRCm39) |
L295Q |
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 |
|
|
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'- AGACCAGCTCTACCTTTGACAC -3'
(R):5'- CTTTGCTCCATCAGGATCTGG -3'
Sequencing Primer
(F):5'- AGCTTGGCACGTGATCACATC -3'
(R):5'- GCTCCATCAGGATCTGGTTCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation