Incidental Mutation 'IGL02896:Katnb1'
| ID |
363424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Katnb1
|
| Ensembl Gene |
ENSMUSG00000031787 |
| Gene Name |
katanin p80 (WD40-containing) subunit B 1 |
| Synonyms |
KAT, 2410003J24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
95807804-95826502 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 95822656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034239]
[ENSMUST00000034240]
[ENSMUST00000169353]
[ENSMUST00000169748]
[ENSMUST00000212968]
[ENSMUST00000213004]
|
| AlphaFold |
Q8BG40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034239
|
| SMART Domains |
Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
9 |
49 |
2.61e-3 |
SMART |
|
WD40
|
52 |
91 |
2.45e-8 |
SMART |
|
WD40
|
94 |
133 |
3.58e-10 |
SMART |
|
WD40
|
136 |
175 |
7.49e-13 |
SMART |
|
WD40
|
178 |
217 |
5.14e-11 |
SMART |
|
WD40
|
220 |
258 |
1.14e-3 |
SMART |
|
low complexity region
|
354 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
412 |
N/A |
INTRINSIC |
|
Pfam:Katanin_con80
|
496 |
654 |
8.2e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034240
|
| SMART Domains |
Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
coiled coil region
|
100 |
360 |
N/A |
INTRINSIC |
|
coiled coil region
|
393 |
430 |
N/A |
INTRINSIC |
|
KISc
|
441 |
774 |
3.15e-158 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169353
|
| SMART Domains |
Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
33 |
223 |
N/A |
INTRINSIC |
|
coiled coil region
|
256 |
293 |
N/A |
INTRINSIC |
|
KISc
|
304 |
637 |
3.15e-158 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169748
|
| SMART Domains |
Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
324 |
N/A |
INTRINSIC |
|
coiled coil region
|
357 |
394 |
N/A |
INTRINSIC |
|
KISc
|
405 |
728 |
3.11e-148 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212968
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice exhibit embryonic lethality, small embryo, brain and limb bud size, variable eye defects, holoprosencephaly, and thin cerebral cortex with fewer cortical progenitors and post-mitotic neurons. Mutant MEFs form multiple centrioles, multipolar spindles, and supernumerary primary cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
G |
8: 88,315,648 (GRCm39) |
D246G |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 68,875,991 (GRCm39) |
S504P |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,668,858 (GRCm39) |
I2566K |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,222,946 (GRCm39) |
V1108A |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,008,151 (GRCm39) |
F466I |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,635,886 (GRCm39) |
M226V |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,771,326 (GRCm39) |
D1023G |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,205 (GRCm39) |
I232V |
probably benign |
Het |
| Dolpp1 |
T |
C |
2: 30,286,242 (GRCm39) |
S114P |
probably damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,825 (GRCm39) |
S105T |
probably benign |
Het |
| Fndc7 |
T |
C |
3: 108,770,247 (GRCm39) |
I560V |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,757,707 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,810,058 (GRCm39) |
L113P |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,675,382 (GRCm39) |
H1066Q |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,901,473 (GRCm39) |
S593T |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,021,779 (GRCm39) |
R713G |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,489,164 (GRCm39) |
D373G |
probably damaging |
Het |
| Mrgpra6 |
T |
A |
7: 46,838,655 (GRCm39) |
D181V |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,557,013 (GRCm39) |
V828I |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,468,360 (GRCm39) |
|
probably null |
Het |
| Nckap5l |
G |
T |
15: 99,325,091 (GRCm39) |
Q471K |
possibly damaging |
Het |
| Or12j5 |
T |
C |
7: 140,083,968 (GRCm39) |
|
probably null |
Het |
| Or1j15 |
A |
T |
2: 36,459,217 (GRCm39) |
L202F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,353 (GRCm39) |
L224* |
probably null |
Het |
| Pfn4 |
A |
G |
12: 4,825,451 (GRCm39) |
N96S |
probably benign |
Het |
| Ppp1r3c |
G |
A |
19: 36,710,865 (GRCm39) |
P302S |
probably benign |
Het |
| Senp2 |
T |
G |
16: 21,837,118 (GRCm39) |
Y122* |
probably null |
Het |
| Slc5a7 |
C |
A |
17: 54,600,045 (GRCm39) |
G123* |
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tent2 |
A |
T |
13: 93,304,945 (GRCm39) |
N280K |
probably damaging |
Het |
| Th |
C |
T |
7: 142,449,168 (GRCm39) |
R289Q |
probably damaging |
Het |
| Tigit |
C |
T |
16: 43,482,561 (GRCm39) |
V58I |
probably benign |
Het |
| Ush1c |
C |
A |
7: 45,847,839 (GRCm39) |
V810L |
probably benign |
Het |
| Vmn2r120 |
C |
A |
17: 57,816,008 (GRCm39) |
K782N |
probably damaging |
Het |
|
| Other mutations in Katnb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01563:Katnb1
|
APN |
8 |
95,824,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02263:Katnb1
|
APN |
8 |
95,816,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Katnb1
|
UTSW |
8 |
95,822,138 (GRCm39) |
unclassified |
probably benign |
|
|
R0139:Katnb1
|
UTSW |
8 |
95,825,050 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0418:Katnb1
|
UTSW |
8 |
95,822,286 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0503:Katnb1
|
UTSW |
8 |
95,821,802 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1405:Katnb1
|
UTSW |
8 |
95,824,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Katnb1
|
UTSW |
8 |
95,824,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3960:Katnb1
|
UTSW |
8 |
95,813,925 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4866:Katnb1
|
UTSW |
8 |
95,824,132 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4930:Katnb1
|
UTSW |
8 |
95,823,922 (GRCm39) |
splice site |
probably null |
|
|
R5160:Katnb1
|
UTSW |
8 |
95,822,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5184:Katnb1
|
UTSW |
8 |
95,824,608 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5333:Katnb1
|
UTSW |
8 |
95,822,234 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5529:Katnb1
|
UTSW |
8 |
95,824,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5848:Katnb1
|
UTSW |
8 |
95,825,340 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6424:Katnb1
|
UTSW |
8 |
95,820,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Katnb1
|
UTSW |
8 |
95,822,084 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6785:Katnb1
|
UTSW |
8 |
95,822,270 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7009:Katnb1
|
UTSW |
8 |
95,825,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7174:Katnb1
|
UTSW |
8 |
95,824,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7253:Katnb1
|
UTSW |
8 |
95,822,125 (GRCm39) |
nonsense |
probably null |
|
|
R7486:Katnb1
|
UTSW |
8 |
95,825,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7718:Katnb1
|
UTSW |
8 |
95,821,836 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7996:Katnb1
|
UTSW |
8 |
95,824,643 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8108:Katnb1
|
UTSW |
8 |
95,820,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8163:Katnb1
|
UTSW |
8 |
95,823,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Katnb1
|
UTSW |
8 |
95,822,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Katnb1
|
UTSW |
8 |
95,809,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8971:Katnb1
|
UTSW |
8 |
95,822,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9137:Katnb1
|
UTSW |
8 |
95,824,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-12-18 |
Incidental Mutation