Incidental Mutation 'R6424:Katnb1'
ID |
518266 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Katnb1
|
Ensembl Gene |
ENSMUSG00000031787 |
Gene Name |
katanin p80 (WD40-containing) subunit B 1 |
Synonyms |
KAT, 2410003J24Rik |
MMRRC Submission |
044387-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6424 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
95807804-95826502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 95820144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 97
(I97N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034239]
[ENSMUST00000212968]
|
AlphaFold |
Q8BG40 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034239
AA Change: I97N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034239 Gene: ENSMUSG00000031787 AA Change: I97N
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 |
noncoding transcript
Transcript: ENSMUST00000212448
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212528
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212565
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212895
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212968
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,460,542 (GRCm39) |
V4184A |
probably benign |
Het |
Acvr2b |
T |
A |
9: 119,231,645 (GRCm39) |
W12R |
probably benign |
Het |
Arap2 |
T |
C |
5: 62,840,707 (GRCm39) |
K720E |
probably damaging |
Het |
Cr1l |
A |
C |
1: 194,800,123 (GRCm39) |
F184V |
probably damaging |
Het |
Haus8 |
C |
T |
8: 71,704,080 (GRCm39) |
W359* |
probably null |
Het |
Insm2 |
A |
T |
12: 55,646,867 (GRCm39) |
I204F |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Map2 |
A |
T |
1: 66,453,946 (GRCm39) |
K945N |
possibly damaging |
Het |
Meltf |
T |
A |
16: 31,699,080 (GRCm39) |
C63* |
probably null |
Het |
Nbas |
T |
C |
12: 13,465,734 (GRCm39) |
|
probably null |
Het |
Or5p1 |
G |
A |
7: 107,916,412 (GRCm39) |
V104I |
probably benign |
Het |
Raf1 |
T |
C |
6: 115,596,542 (GRCm39) |
E594G |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Scgb2b19 |
A |
C |
7: 32,978,022 (GRCm39) |
S92A |
possibly damaging |
Het |
Serpinb3c |
T |
A |
1: 107,199,359 (GRCm39) |
*387Y |
probably null |
Het |
Shpk |
A |
T |
11: 73,104,318 (GRCm39) |
I156F |
possibly damaging |
Het |
Smarcd1 |
T |
C |
15: 99,602,248 (GRCm39) |
F128L |
probably damaging |
Het |
Tars3 |
G |
A |
7: 65,305,487 (GRCm39) |
G237E |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,719,848 (GRCm39) |
|
probably benign |
Het |
Vmn1r223 |
T |
A |
13: 23,434,345 (GRCm39) |
I313N |
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 |
IGL02896:Katnb1
|
APN |
8 |
95,822,656 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGTGATTGATGCTGCCCG -3'
(R):5'- TAAGGATGTTGCCACGAGGG -3'
Sequencing Primer
(F):5'- TGGTACACACAGGCTACGG -3'
(R):5'- TTGCCACGAGGGGAAGATTCC -3'
|
Posted On |
2018-05-24 |