Incidental Mutation 'IGL01468:Kif2b'
| ID |
88164 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif2b
|
| Ensembl Gene |
ENSMUSG00000046755 |
| Gene Name |
kinesin family member 2B |
| Synonyms |
1700063D03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.756)
|
| Stock # |
IGL01468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
91466141-91468384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91467191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 364
(V364A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061019]
|
| AlphaFold |
Q8C0N1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061019
AA Change: V364A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058084
Gene: ENSMUSG00000046755
AA Change: V364A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,839,711 (GRCm39) |
V781I |
probably benign |
Het |
| Aldh5a1 |
G |
T |
13: 25,095,536 (GRCm39) |
|
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,057,576 (GRCm39) |
T435A |
probably benign |
Het |
| Atrnl1 |
G |
A |
19: 57,688,144 (GRCm39) |
V870I |
probably benign |
Het |
| Cerkl |
A |
T |
2: 79,173,559 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
T |
A |
6: 47,248,305 (GRCm39) |
L13* |
probably null |
Het |
| Cr2 |
G |
A |
1: 194,850,843 (GRCm39) |
P208S |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,612 (GRCm39) |
D1075G |
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,563,039 (GRCm39) |
K863* |
probably null |
Het |
| Dnaaf5 |
C |
A |
5: 139,137,235 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
T |
A |
3: 84,879,806 (GRCm39) |
I336K |
probably benign |
Het |
| Ftcd |
A |
G |
10: 76,420,421 (GRCm39) |
D385G |
probably benign |
Het |
| Gm10153 |
T |
C |
7: 141,743,778 (GRCm39) |
S117G |
unknown |
Het |
| Gzmb |
T |
C |
14: 56,497,772 (GRCm39) |
Y156C |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,831,880 (GRCm39) |
D83E |
probably benign |
Het |
| Mknk2 |
A |
G |
10: 80,503,498 (GRCm39) |
|
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,819,696 (GRCm39) |
Q24L |
probably damaging |
Het |
| Pgm1 |
A |
T |
4: 99,819,367 (GRCm39) |
N197I |
possibly damaging |
Het |
| Prss39 |
C |
T |
1: 34,538,481 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,201 (GRCm39) |
V236A |
probably damaging |
Het |
| Slc17a8 |
C |
T |
10: 89,427,883 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
A |
G |
2: 145,455,500 (GRCm39) |
Y463C |
probably benign |
Het |
| Slc4a7 |
A |
G |
14: 14,737,480 (GRCm38) |
E149G |
probably damaging |
Het |
| Synj1 |
G |
A |
16: 90,807,060 (GRCm39) |
|
probably benign |
Het |
| Tas2r138 |
T |
A |
6: 40,589,410 (GRCm39) |
M279L |
probably benign |
Het |
| Terb1 |
A |
G |
8: 105,208,799 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Trmt5 |
C |
T |
12: 73,327,878 (GRCm39) |
V442I |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,840,071 (GRCm39) |
I383V |
possibly damaging |
Het |
| Uchl4 |
A |
G |
9: 64,142,998 (GRCm39) |
T160A |
possibly damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,182,382 (GRCm39) |
M439K |
possibly damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,892,868 (GRCm39) |
L757Q |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,904,475 (GRCm39) |
V1468A |
probably benign |
Het |
| Zxdc |
A |
T |
6: 90,350,761 (GRCm39) |
E404V |
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 |
|
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 |
|
R6101:Kif2b
|
UTSW |
11 |
91,466,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation