Incidental Mutation 'R6101:Kif2b'
ID |
485269 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif2b
|
Ensembl Gene |
ENSMUSG00000046755 |
Gene Name |
kinesin family member 2B |
Synonyms |
1700063D03Rik |
MMRRC Submission |
044251-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.775)
|
Stock # |
R6101 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
91466141-91468384 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91466814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 490
(S490P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061019]
|
AlphaFold |
Q8C0N1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061019
AA Change: S490P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000058084 Gene: ENSMUSG00000046755 AA Change: S490P
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
70 |
N/A |
INTRINSIC |
low complexity region
|
90 |
103 |
N/A |
INTRINSIC |
low complexity region
|
151 |
176 |
N/A |
INTRINSIC |
KISc
|
211 |
549 |
2.34e-134 |
SMART |
low complexity region
|
588 |
603 |
N/A |
INTRINSIC |
coiled coil region
|
640 |
664 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
Arhgap11a |
G |
A |
2: 113,665,219 (GRCm39) |
R460* |
probably null |
Het |
Chl1 |
A |
T |
6: 103,669,993 (GRCm39) |
D477V |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,438,629 (GRCm39) |
L45Q |
probably damaging |
Het |
Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
Csrnp1 |
T |
C |
9: 119,802,551 (GRCm39) |
D220G |
probably damaging |
Het |
Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Igha |
T |
A |
12: 113,220,017 (GRCm39) |
|
probably benign |
Het |
Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,607,338 (GRCm39) |
I567T |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
Mical3 |
A |
T |
6: 121,010,671 (GRCm39) |
V437D |
probably damaging |
Het |
Mief1 |
T |
C |
15: 80,133,941 (GRCm39) |
Y333H |
probably benign |
Het |
Or12j4 |
T |
A |
7: 140,046,432 (GRCm39) |
V106D |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,598 (GRCm39) |
F158L |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
Pinlyp |
C |
T |
7: 24,245,405 (GRCm39) |
R5K |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
Pnma8b |
T |
A |
7: 16,680,493 (GRCm39) |
S492R |
probably benign |
Het |
Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
Ptprq |
A |
G |
10: 107,416,127 (GRCm39) |
Y1724H |
possibly damaging |
Het |
Rpn2 |
T |
A |
2: 157,152,108 (GRCm39) |
|
probably null |
Het |
Scn5a |
A |
G |
9: 119,351,716 (GRCm39) |
V755A |
probably damaging |
Het |
Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
Tdrd12 |
A |
T |
7: 35,180,558 (GRCm39) |
Y818* |
probably null |
Het |
Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
Trim58 |
A |
G |
11: 58,542,441 (GRCm39) |
N467S |
probably benign |
Het |
Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zkscan17 |
A |
T |
11: 59,394,401 (GRCm39) |
C67S |
probably damaging |
Het |
|
Other mutations in Kif2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00834:Kif2b
|
APN |
11 |
91,467,206 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01459:Kif2b
|
APN |
11 |
91,467,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01468:Kif2b
|
APN |
11 |
91,467,191 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02897:Kif2b
|
APN |
11 |
91,467,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R0076:Kif2b
|
UTSW |
11 |
91,466,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R0488:Kif2b
|
UTSW |
11 |
91,467,798 (GRCm39) |
missense |
probably benign |
0.00 |
R0524:Kif2b
|
UTSW |
11 |
91,466,550 (GRCm39) |
missense |
probably benign |
0.00 |
R0549:Kif2b
|
UTSW |
11 |
91,467,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R0893:Kif2b
|
UTSW |
11 |
91,466,420 (GRCm39) |
missense |
probably benign |
0.16 |
R1677:Kif2b
|
UTSW |
11 |
91,466,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R2025:Kif2b
|
UTSW |
11 |
91,468,172 (GRCm39) |
missense |
probably damaging |
0.99 |
R2185:Kif2b
|
UTSW |
11 |
91,467,797 (GRCm39) |
frame shift |
probably null |
|
R2290:Kif2b
|
UTSW |
11 |
91,466,522 (GRCm39) |
missense |
probably benign |
0.00 |
R4697:Kif2b
|
UTSW |
11 |
91,467,672 (GRCm39) |
missense |
probably benign |
0.01 |
R4785:Kif2b
|
UTSW |
11 |
91,467,254 (GRCm39) |
missense |
probably benign |
0.07 |
R5429:Kif2b
|
UTSW |
11 |
91,468,055 (GRCm39) |
missense |
probably benign |
0.03 |
R5555:Kif2b
|
UTSW |
11 |
91,466,286 (GRCm39) |
missense |
probably benign |
0.00 |
R5652:Kif2b
|
UTSW |
11 |
91,466,656 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5765:Kif2b
|
UTSW |
11 |
91,468,068 (GRCm39) |
missense |
probably benign |
0.28 |
R6105:Kif2b
|
UTSW |
11 |
91,466,814 (GRCm39) |
missense |
probably benign |
0.00 |
R6450:Kif2b
|
UTSW |
11 |
91,467,192 (GRCm39) |
missense |
probably damaging |
0.99 |
R6862:Kif2b
|
UTSW |
11 |
91,466,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R7097:Kif2b
|
UTSW |
11 |
91,467,650 (GRCm39) |
missense |
probably benign |
0.00 |
R7189:Kif2b
|
UTSW |
11 |
91,467,963 (GRCm39) |
missense |
probably benign |
0.01 |
R7507:Kif2b
|
UTSW |
11 |
91,468,269 (GRCm39) |
missense |
probably benign |
|
R7742:Kif2b
|
UTSW |
11 |
91,467,411 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7818:Kif2b
|
UTSW |
11 |
91,466,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R7820:Kif2b
|
UTSW |
11 |
91,468,100 (GRCm39) |
missense |
probably benign |
0.01 |
R7946:Kif2b
|
UTSW |
11 |
91,466,571 (GRCm39) |
missense |
probably benign |
0.00 |
R8378:Kif2b
|
UTSW |
11 |
91,467,201 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8442:Kif2b
|
UTSW |
11 |
91,467,140 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8925:Kif2b
|
UTSW |
11 |
91,468,023 (GRCm39) |
missense |
probably benign |
0.00 |
R8927:Kif2b
|
UTSW |
11 |
91,468,023 (GRCm39) |
missense |
probably benign |
0.00 |
R8969:Kif2b
|
UTSW |
11 |
91,468,019 (GRCm39) |
missense |
probably benign |
0.00 |
R9002:Kif2b
|
UTSW |
11 |
91,467,053 (GRCm39) |
missense |
probably benign |
0.30 |
R9028:Kif2b
|
UTSW |
11 |
91,468,011 (GRCm39) |
missense |
probably benign |
|
R9039:Kif2b
|
UTSW |
11 |
91,467,131 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9063:Kif2b
|
UTSW |
11 |
91,466,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R9114:Kif2b
|
UTSW |
11 |
91,466,538 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9279:Kif2b
|
UTSW |
11 |
91,467,975 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Kif2b
|
UTSW |
11 |
91,467,090 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATCAGTGGTACCTCATGGC -3'
(R):5'- TCATTCTCAAGGCTGGAGGGAAG -3'
Sequencing Primer
(F):5'- ACACAGTGATGGTAGGGCCTTG -3'
(R):5'- AAGCTGCACGGCAAGTTTTC -3'
|
Posted On |
2017-08-16 |