Incidental Mutation 'R9522:Kif16b'
| ID |
718930 |
| 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 # |
R9522 (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 T
at 142691827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 219
(V219D)
|
| 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: V219D
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: V219D
| 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: V219D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230763
AA Change: V219D
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,847,368 (GRCm39) |
Y744F |
probably null |
Het |
| Adam17 |
C |
A |
12: 21,395,693 (GRCm39) |
V277F |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,792,560 (GRCm39) |
C132Y |
probably damaging |
Het |
| Adgrf3 |
G |
A |
5: 30,404,482 (GRCm39) |
P318L |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,579,398 (GRCm39) |
I212N |
probably damaging |
Het |
| Allc |
A |
T |
12: 28,620,653 (GRCm39) |
F33I |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,027,450 (GRCm39) |
T7A |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,260,691 (GRCm39) |
|
probably null |
Het |
| Btbd1 |
G |
T |
7: 81,479,081 (GRCm39) |
P20H |
unknown |
Het |
| Cass4 |
A |
G |
2: 172,269,348 (GRCm39) |
I477V |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,586,184 (GRCm39) |
E362G |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cimip2c |
A |
T |
5: 30,623,467 (GRCm39) |
S5C |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,412,347 (GRCm39) |
D896G |
probably benign |
Het |
| Crocc2 |
T |
C |
1: 93,117,429 (GRCm39) |
V305A |
probably benign |
Het |
| Cse1l |
G |
A |
2: 166,776,673 (GRCm39) |
V495I |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,152,257 (GRCm39) |
Y36* |
probably null |
Het |
| Ctss |
T |
G |
3: 95,454,109 (GRCm39) |
D220E |
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,324,900 (GRCm39) |
L113P |
probably benign |
Het |
| Cyp2d40 |
G |
A |
15: 82,648,274 (GRCm39) |
A13V |
possibly damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,716,219 (GRCm39) |
|
probably benign |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dpysl5 |
C |
A |
5: 30,935,399 (GRCm39) |
Y167* |
probably null |
Het |
| E4f1 |
C |
T |
17: 24,666,096 (GRCm39) |
G234D |
probably damaging |
Het |
| Eif3g |
G |
T |
9: 20,809,451 (GRCm39) |
T27N |
probably benign |
Het |
| Eif3g |
T |
A |
9: 20,809,452 (GRCm39) |
T27S |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,101 (GRCm39) |
F343L |
possibly damaging |
Het |
| Fdft1 |
T |
C |
14: 63,396,597 (GRCm39) |
|
probably null |
Het |
| Hsd3b9 |
T |
C |
3: 98,353,783 (GRCm39) |
S239G |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,917,215 (GRCm39) |
Q1562K |
probably benign |
Het |
| Ilf3 |
G |
A |
9: 21,305,533 (GRCm39) |
V232I |
probably benign |
Het |
| Irx5 |
C |
T |
8: 93,087,259 (GRCm39) |
T397M |
possibly damaging |
Het |
| Klkb1 |
T |
C |
8: 45,730,052 (GRCm39) |
I276M |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,200,266 (GRCm39) |
L115P |
probably damaging |
Het |
| Lrrc3b |
T |
C |
14: 15,358,423 (GRCm38) |
D61G |
probably benign |
Het |
| Map7 |
A |
G |
10: 20,105,642 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,857,375 (GRCm39) |
I462F |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or5b98 |
T |
A |
19: 12,931,377 (GRCm39) |
C141* |
probably null |
Het |
| Or9m2 |
G |
A |
2: 87,821,175 (GRCm39) |
C240Y |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,504,669 (GRCm39) |
V770A |
possibly damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,240,886 (GRCm39) |
A819V |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,236,676 (GRCm39) |
W242R |
probably damaging |
Het |
| Rgs3 |
A |
G |
4: 62,523,729 (GRCm39) |
I53M |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,971,311 (GRCm39) |
F263S |
probably damaging |
Het |
| Rpl22l1 |
T |
C |
3: 28,860,743 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,560,759 (GRCm39) |
I3001F |
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,873,900 (GRCm39) |
I675T |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,853,987 (GRCm39) |
I330N |
possibly damaging |
Het |
| Sec16b |
C |
T |
1: 157,392,335 (GRCm39) |
S901L |
probably damaging |
Het |
| Setd5 |
T |
G |
6: 113,091,995 (GRCm39) |
I272S |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,672 (GRCm39) |
M536K |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,825 (GRCm39) |
V232A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,780 (GRCm39) |
S643P |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 57,019,107 (GRCm39) |
D251G |
probably benign |
Het |
| Tbccd1 |
T |
C |
16: 22,641,249 (GRCm39) |
E376G |
possibly damaging |
Het |
| Tmem184a |
G |
T |
5: 139,791,485 (GRCm39) |
P368T |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,539,309 (GRCm39) |
D362G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,677,274 (GRCm39) |
H612R |
probably benign |
Het |
| Ugt3a1 |
C |
A |
15: 9,370,209 (GRCm39) |
P451H |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,677,221 (GRCm39) |
C2050Y |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r179 |
T |
C |
7: 23,628,202 (GRCm39) |
V131A |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,924 (GRCm39) |
F110S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,232,379 (GRCm39) |
Y282C |
probably damaging |
Het |
| Zscan18 |
T |
C |
7: 12,503,297 (GRCm39) |
D754G |
possibly 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 |
|
|
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'- TGCTCAAGTCTAACTAACAAGGAAG -3'
(R):5'- AGCAGATGTGTTGTCATGCATG -3'
Sequencing Primer
(F):5'- GTGACAATCACCTTCGCTTGCAG -3'
(R):5'- GAGGGAAGCCTCTCATTTAGTTCAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation