Incidental Mutation 'R5974:Kif16b'
| ID |
471593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif16b
|
| Ensembl Gene |
ENSMUSG00000038844 |
| Gene Name |
kinesin family member 16B |
| Synonyms |
N-3 kinesin, 8430434E15Rik |
| MMRRC Submission |
044157-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5974 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
142460260-142743535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 142699301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 93
(G93D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043589]
[ENSMUST00000211861]
[ENSMUST00000230763]
|
| AlphaFold |
B1AVY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043589
AA Change: G93D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: G93D
| 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: G93D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230763
AA Change: G93D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 53,002,742 (GRCm39) |
L261P |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,499,317 (GRCm39) |
Y10C |
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,029,662 (GRCm39) |
N133K |
probably benign |
Het |
| Clip4 |
A |
T |
17: 72,138,242 (GRCm39) |
H433L |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,183,480 (GRCm39) |
M62K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,589,409 (GRCm39) |
S1049P |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,258,683 (GRCm39) |
T358I |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,449,753 (GRCm39) |
D645E |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,817,067 (GRCm39) |
W585L |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,451,259 (GRCm39) |
E114* |
probably null |
Het |
| Daam2 |
T |
A |
17: 49,771,501 (GRCm39) |
S882C |
probably damaging |
Het |
| Des |
T |
A |
1: 75,339,628 (GRCm39) |
S329T |
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,313,290 (GRCm39) |
D994G |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,871,261 (GRCm39) |
V547A |
probably damaging |
Het |
| Ebf4 |
G |
A |
2: 130,207,484 (GRCm39) |
A643T |
probably damaging |
Het |
| Ect2 |
C |
A |
3: 27,199,112 (GRCm39) |
E194* |
probably null |
Het |
| Epb41l2 |
A |
G |
10: 25,317,713 (GRCm39) |
I77V |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,917,824 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
G |
18: 58,181,992 (GRCm39) |
D1803A |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,040,631 (GRCm39) |
E858G |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,912 (GRCm39) |
R284Q |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,793,657 (GRCm39) |
I425N |
possibly damaging |
Het |
| Fut9 |
A |
C |
4: 25,620,090 (GRCm39) |
Y241* |
probably null |
Het |
| Galr2 |
A |
G |
11: 116,173,852 (GRCm39) |
S161G |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,094,065 (GRCm39) |
L14I |
probably damaging |
Het |
| H2-T15 |
A |
T |
17: 36,367,677 (GRCm39) |
D220E |
probably benign |
Het |
| Hdac11 |
G |
A |
6: 91,150,196 (GRCm39) |
V332I |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,699,953 (GRCm39) |
|
probably null |
Het |
| Krtap11-1 |
C |
A |
16: 89,367,656 (GRCm39) |
C121F |
possibly damaging |
Het |
| Lacc1 |
T |
C |
14: 77,272,517 (GRCm39) |
Q93R |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,080,722 (GRCm39) |
F1250S |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,172,202 (GRCm39) |
E332G |
probably benign |
Het |
| Lrp2 |
C |
A |
2: 69,289,892 (GRCm39) |
C3649F |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,134,857 (GRCm39) |
V1653A |
probably benign |
Het |
| Mrpl1 |
T |
C |
5: 96,379,653 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,650,920 (GRCm39) |
|
probably null |
Het |
| Negr1 |
T |
A |
3: 156,774,923 (GRCm39) |
V213E |
probably damaging |
Het |
| Nlk |
T |
G |
11: 78,481,792 (GRCm39) |
Q223P |
probably benign |
Het |
| Ntn5 |
A |
G |
7: 45,340,848 (GRCm39) |
H162R |
probably damaging |
Het |
| Nup42 |
T |
C |
5: 24,372,400 (GRCm39) |
S63P |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,967,373 (GRCm39) |
D477Y |
probably damaging |
Het |
| Or12d12 |
A |
T |
17: 37,611,229 (GRCm39) |
I28N |
possibly damaging |
Het |
| Or5an1 |
T |
C |
19: 12,261,200 (GRCm39) |
S263P |
probably damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,225 (GRCm39) |
S299G |
probably benign |
Het |
| Pabpn1 |
A |
G |
14: 55,134,617 (GRCm39) |
T280A |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,127,194 (GRCm39) |
V109E |
possibly damaging |
Het |
| Pira2 |
A |
C |
7: 3,844,576 (GRCm39) |
V485G |
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,847,618 (GRCm39) |
L133P |
probably damaging |
Het |
| Pros1 |
A |
C |
16: 62,721,030 (GRCm39) |
N195T |
probably damaging |
Het |
| Rffl |
T |
C |
11: 82,696,977 (GRCm39) |
K289E |
probably damaging |
Het |
| Ripk1 |
T |
A |
13: 34,214,084 (GRCm39) |
Y475* |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,729,397 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
T |
A |
10: 21,872,148 (GRCm39) |
N241K |
probably damaging |
Het |
| Skint1 |
T |
A |
4: 111,876,516 (GRCm39) |
S146T |
probably benign |
Het |
| Sox30 |
G |
T |
11: 45,871,900 (GRCm39) |
D252Y |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,182,012 (GRCm39) |
Y1002C |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,465,084 (GRCm39) |
D271G |
possibly damaging |
Het |
| Ticam1 |
T |
C |
17: 56,578,178 (GRCm39) |
T306A |
probably benign |
Het |
| Tmem252 |
A |
G |
19: 24,651,632 (GRCm39) |
E67G |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,904,681 (GRCm39) |
F1149V |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,148,389 (GRCm39) |
|
probably null |
Het |
| Unc50 |
A |
G |
1: 37,476,290 (GRCm39) |
D150G |
probably benign |
Het |
| Ywhag |
A |
C |
5: 135,940,483 (GRCm39) |
L37R |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,311,862 (GRCm39) |
L123P |
probably benign |
Het |
| Zfp418 |
G |
T |
7: 7,185,199 (GRCm39) |
Q387H |
possibly damaging |
Het |
| Zfp882 |
T |
C |
8: 72,666,999 (GRCm39) |
F53L |
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 |
|
|
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 |
|
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'- GGGATTCCCACCCATTGTTTG -3'
(R):5'- CATATTCTGTTGTTATAGCTCGGC -3'
Sequencing Primer
(F):5'- TCTCTCCAAGGAAATTTAGTTCAAC -3'
(R):5'- TCAATACAGCAGGGGCTT -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation