Incidental Mutation 'R4504:Kif3b'
| ID |
331917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif3b
|
| Ensembl Gene |
ENSMUSG00000027475 |
| Gene Name |
kinesin family member 3B |
| Synonyms |
|
| MMRRC Submission |
041755-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
153133333-153175310 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 153165564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028977]
[ENSMUST00000028977]
[ENSMUST00000028977]
|
| AlphaFold |
Q61771 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028977
|
| SMART Domains |
Protein: ENSMUSP00000028977
Gene: ENSMUSG00000027475
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
7 |
348 |
6.36e-186 |
SMART |
|
low complexity region
|
370 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
458 |
N/A |
INTRINSIC |
|
Blast:KISc
|
459 |
535 |
3e-10 |
BLAST |
|
low complexity region
|
537 |
548 |
N/A |
INTRINSIC |
|
Blast:KISc
|
549 |
626 |
4e-27 |
BLAST |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000028977
|
| SMART Domains |
Protein: ENSMUSP00000028977
Gene: ENSMUSG00000027475
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
7 |
348 |
6.36e-186 |
SMART |
|
low complexity region
|
370 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
458 |
N/A |
INTRINSIC |
|
Blast:KISc
|
459 |
535 |
3e-10 |
BLAST |
|
low complexity region
|
537 |
548 |
N/A |
INTRINSIC |
|
Blast:KISc
|
549 |
626 |
4e-27 |
BLAST |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000028977
|
| SMART Domains |
Protein: ENSMUSP00000028977
Gene: ENSMUSG00000027475
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
7 |
348 |
6.36e-186 |
SMART |
|
low complexity region
|
370 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
458 |
N/A |
INTRINSIC |
|
Blast:KISc
|
459 |
535 |
3e-10 |
BLAST |
|
low complexity region
|
537 |
548 |
N/A |
INTRINSIC |
|
Blast:KISc
|
549 |
626 |
4e-27 |
BLAST |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
735 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9502 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygoous for a targeted null mutation are growth retarded and display neural tube defects, incomplete embryo turning, randomized left-right assymetry, pericardial edema, and die during the midgestational period. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
G |
14: 44,407,899 (GRCm39) |
S45P |
probably damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,961,802 (GRCm39) |
R1124C |
possibly damaging |
Het |
| Anxa13 |
T |
C |
15: 58,228,052 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap32 |
C |
A |
9: 32,093,135 (GRCm39) |
|
probably null |
Het |
| Carm1 |
T |
C |
9: 21,480,822 (GRCm39) |
F99L |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,013,665 (GRCm39) |
E253G |
possibly damaging |
Het |
| Dsg4 |
A |
G |
18: 20,594,493 (GRCm39) |
I541V |
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,362,127 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ear1 |
A |
T |
14: 44,056,721 (GRCm39) |
V49D |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Fndc8 |
T |
A |
11: 82,783,226 (GRCm39) |
M69K |
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,913,466 (GRCm39) |
I482V |
probably benign |
Het |
| Hivep3 |
G |
A |
4: 119,590,990 (GRCm39) |
|
probably benign |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,356 (GRCm39) |
F82L |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,657,842 (GRCm39) |
R410C |
probably damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,291,699 (GRCm39) |
W296R |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,867,191 (GRCm39) |
Y817* |
probably null |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,189 (GRCm39) |
V1022A |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,178,741 (GRCm39) |
L223S |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,015 (GRCm39) |
F221L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,353,690 (GRCm39) |
D281G |
possibly damaging |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,319 (GRCm39) |
C1553Y |
probably damaging |
Het |
| Pdgfc |
A |
C |
3: 81,082,298 (GRCm39) |
M164L |
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,333,880 (GRCm39) |
Y47C |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,150,945 (GRCm39) |
I633N |
probably damaging |
Het |
| Pkn1 |
G |
A |
8: 84,419,556 (GRCm39) |
R16* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,269,242 (GRCm39) |
V85A |
probably benign |
Het |
| Ppp4c |
A |
C |
7: 126,386,637 (GRCm39) |
L150R |
probably damaging |
Het |
| Pramel25 |
G |
C |
4: 143,520,553 (GRCm39) |
E102Q |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Rnf144a |
T |
A |
12: 26,377,302 (GRCm39) |
R92S |
probably benign |
Het |
| Sbno2 |
C |
A |
10: 79,896,326 (GRCm39) |
R898L |
possibly damaging |
Het |
| Scnn1b |
A |
C |
7: 121,511,698 (GRCm39) |
N370T |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,672,866 (GRCm39) |
E1302G |
possibly damaging |
Het |
|
| Other mutations in Kif3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Kif3b
|
APN |
2 |
153,159,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00927:Kif3b
|
APN |
2 |
153,158,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02121:Kif3b
|
APN |
2 |
153,159,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02302:Kif3b
|
APN |
2 |
153,158,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02306:Kif3b
|
APN |
2 |
153,162,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02348:Kif3b
|
APN |
2 |
153,158,813 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03111:Kif3b
|
APN |
2 |
153,171,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1463:Kif3b
|
UTSW |
2 |
153,172,073 (GRCm39) |
makesense |
probably null |
|
|
R1474:Kif3b
|
UTSW |
2 |
153,162,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Kif3b
|
UTSW |
2 |
153,164,851 (GRCm39) |
splice site |
probably null |
|
|
R1538:Kif3b
|
UTSW |
2 |
153,159,382 (GRCm39) |
small deletion |
probably benign |
|
|
R1834:Kif3b
|
UTSW |
2 |
153,159,405 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2371:Kif3b
|
UTSW |
2 |
153,164,743 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4051:Kif3b
|
UTSW |
2 |
153,165,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4208:Kif3b
|
UTSW |
2 |
153,165,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4619:Kif3b
|
UTSW |
2 |
153,158,594 (GRCm39) |
nonsense |
probably null |
|
|
R4806:Kif3b
|
UTSW |
2 |
153,162,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Kif3b
|
UTSW |
2 |
153,159,212 (GRCm39) |
nonsense |
probably null |
|
|
R7017:Kif3b
|
UTSW |
2 |
153,171,644 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7990:Kif3b
|
UTSW |
2 |
153,159,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8056:Kif3b
|
UTSW |
2 |
153,171,979 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8503:Kif3b
|
UTSW |
2 |
153,162,824 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8515:Kif3b
|
UTSW |
2 |
153,158,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Kif3b
|
UTSW |
2 |
153,159,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9524:Kif3b
|
UTSW |
2 |
153,159,460 (GRCm39) |
missense |
probably benign |
0.38 |
|
X0026:Kif3b
|
UTSW |
2 |
153,158,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTACTTAACCCCATTGGCC -3'
(R):5'- ACTTCTCAAACCTAAATTCCTCTGG -3'
Sequencing Primer
(F):5'- GGCCTCAACATTGTCATC -3'
(R):5'- CTGCCAAGCCTGACAATAGAGTTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation