Incidental Mutation 'R7376:Kif16b'
| ID |
572368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif16b
|
| Ensembl Gene |
ENSMUSG00000038844 |
| Gene Name |
kinesin family member 16B |
| Synonyms |
N-3 kinesin, 8430434E15Rik |
| MMRRC Submission |
045459-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7376 (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 142553792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 1002
(L1002S)
|
| 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: L1002S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: L1002S
| 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: L1002S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230763
AA Change: L1013S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (60/61) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,118 (GRCm39) |
I994V |
probably benign |
Het |
| Acan |
T |
G |
7: 78,738,055 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
G |
A |
15: 11,277,425 (GRCm39) |
V680I |
possibly damaging |
Het |
| Adgrg7 |
T |
C |
16: 56,545,342 (GRCm39) |
I712V |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,942,597 (GRCm39) |
H1477R |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,599,088 (GRCm39) |
S1305P |
probably benign |
Het |
| Banp |
T |
A |
8: 122,701,236 (GRCm39) |
M39K |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,135,111 (GRCm39) |
T75A |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| Bltp3b |
G |
A |
10: 89,645,518 (GRCm39) |
G1197D |
probably damaging |
Het |
| Brinp2 |
C |
T |
1: 158,078,938 (GRCm39) |
C295Y |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,883,993 (GRCm39) |
V429I |
probably benign |
Het |
| Cdca3 |
G |
A |
6: 124,809,538 (GRCm39) |
R184H |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,067,509 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
G |
4: 126,484,430 (GRCm39) |
K1196R |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,894,994 (GRCm39) |
T89A |
possibly damaging |
Het |
| Cpne9 |
A |
T |
6: 113,266,974 (GRCm39) |
I136L |
probably damaging |
Het |
| Crat |
T |
A |
2: 30,296,477 (GRCm39) |
I330F |
probably damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,615,697 (GRCm39) |
Q413K |
possibly damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,151,238 (GRCm39) |
E1220G |
probably damaging |
Het |
| Dap |
A |
G |
15: 31,235,985 (GRCm39) |
D41G |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,590,967 (GRCm39) |
I3287V |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,356,819 (GRCm39) |
H233R |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,231,770 (GRCm39) |
I3121T |
probably benign |
Het |
| Espnl |
T |
G |
1: 91,250,036 (GRCm39) |
L61R |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,527,983 (GRCm39) |
S331P |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,050,344 (GRCm39) |
E535G |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,043,084 (GRCm39) |
I650T |
possibly damaging |
Het |
| Iyd |
T |
A |
10: 3,495,690 (GRCm39) |
I116N |
probably damaging |
Het |
| Kifbp |
C |
T |
10: 62,394,843 (GRCm39) |
V600I |
possibly damaging |
Het |
| Lgi1 |
G |
A |
19: 38,272,468 (GRCm39) |
G113D |
probably damaging |
Het |
| Lgi2 |
G |
A |
5: 52,695,604 (GRCm39) |
R452C |
probably damaging |
Het |
| Man2b2 |
T |
G |
5: 36,970,722 (GRCm39) |
N764T |
probably damaging |
Het |
| Mrps18b |
A |
G |
17: 36,221,587 (GRCm39) |
I246T |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,426,287 (GRCm39) |
T4795A |
possibly damaging |
Het |
| Mybl2 |
G |
A |
2: 162,924,513 (GRCm39) |
G627D |
possibly damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,794 (GRCm39) |
R16K |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,121 (GRCm39) |
V271E |
possibly damaging |
Het |
| P4htm |
C |
T |
9: 108,457,991 (GRCm39) |
V335M |
probably damaging |
Het |
| Pbx3 |
A |
G |
2: 34,094,889 (GRCm39) |
I249T |
probably damaging |
Het |
| Plod3 |
G |
T |
5: 137,019,335 (GRCm39) |
V360L |
probably benign |
Het |
| Podxl2 |
C |
T |
6: 88,826,632 (GRCm39) |
D161N |
probably benign |
Het |
| Polr1b |
G |
T |
2: 128,960,993 (GRCm39) |
V651L |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,075,749 (GRCm39) |
S586P |
probably benign |
Het |
| Pum3 |
C |
T |
19: 27,371,728 (GRCm39) |
G575D |
probably benign |
Het |
| Rnf157 |
C |
A |
11: 116,251,192 (GRCm39) |
A111S |
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,344,212 (GRCm39) |
L29P |
probably damaging |
Het |
| Smarca5 |
T |
C |
8: 81,452,680 (GRCm39) |
N342S |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,009,078 (GRCm39) |
I198K |
probably benign |
Het |
| Tmem177 |
A |
T |
1: 119,837,744 (GRCm39) |
*312R |
probably null |
Het |
| Tom1l2 |
A |
T |
11: 60,152,026 (GRCm39) |
M172K |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,756,414 (GRCm39) |
V3A |
unknown |
Het |
| Vmn1r128 |
G |
T |
7: 21,083,668 (GRCm39) |
G124V |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,342 (GRCm39) |
I70T |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,631 (GRCm39) |
T665A |
probably damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,314,790 (GRCm39) |
F346S |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,910,691 (GRCm39) |
D694E |
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 |
|
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'- GGGTCCATCTCAAGTGCTTC -3'
(R):5'- GTGCTTGATGCCCTTGACAG -3'
Sequencing Primer
(F):5'- AAGTGCTTCTCCATCAGTCTCCAG -3'
(R):5'- AGTGGTGTCCTAGGCCTAGAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation