Incidental Mutation 'IGL01459:Kif2b'
| ID |
87937 |
| 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: 0.775)
|
| Stock # |
IGL01459
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
91466141-91468384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91467849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 145
(K145E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061019]
|
| AlphaFold |
Q8C0N1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061019
AA Change: K145E
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058084
Gene: ENSMUSG00000046755
AA Change: K145E
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,864,449 (GRCm39) |
D470V |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,391,007 (GRCm39) |
S420P |
probably damaging |
Het |
| Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
| Kbtbd8 |
A |
G |
6: 95,099,789 (GRCm39) |
N356D |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,804,820 (GRCm39) |
E189G |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
| Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
| Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
| Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
| Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
| Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
| Prkra |
A |
G |
2: 76,460,780 (GRCm39) |
L306S |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
| Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
G |
15: 11,391,940 (GRCm39) |
V265A |
possibly damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,673,371 (GRCm39) |
L405P |
probably benign |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
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 |
|
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 |
|
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