Incidental Mutation 'R0503:Katnb1'
ID |
47259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Katnb1
|
Ensembl Gene |
ENSMUSG00000031787 |
Gene Name |
katanin p80 (WD40-containing) subunit B 1 |
Synonyms |
KAT, 2410003J24Rik |
MMRRC Submission |
038698-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0503 (G1)
|
Quality Score |
211 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
95807804-95826502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95821802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 212
(T212A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034239]
[ENSMUST00000034240]
[ENSMUST00000169353]
[ENSMUST00000169748]
[ENSMUST00000212968]
|
AlphaFold |
Q8BG40 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034239
AA Change: T212A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034239 Gene: ENSMUSG00000031787 AA Change: T212A
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: ENSMUST00000212448
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212528
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212968
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212565
|
Meta Mutation Damage Score |
0.5693 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
98% (57/58) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,322 (GRCm39) |
H755R |
possibly damaging |
Het |
Atp2c2 |
A |
G |
8: 120,461,316 (GRCm39) |
E279G |
probably null |
Het |
Ccdc65 |
G |
T |
15: 98,607,041 (GRCm39) |
D83Y |
probably damaging |
Het |
Cd200r2 |
T |
A |
16: 44,698,325 (GRCm39) |
M1K |
probably null |
Het |
Clca4c-ps |
A |
T |
3: 144,585,583 (GRCm39) |
|
noncoding transcript |
Het |
Col6a6 |
A |
T |
9: 105,644,550 (GRCm39) |
M1246K |
probably benign |
Het |
Comp |
A |
T |
8: 70,828,384 (GRCm39) |
N130I |
possibly damaging |
Het |
Crot |
A |
G |
5: 9,026,075 (GRCm39) |
V304A |
possibly damaging |
Het |
Dapk1 |
T |
A |
13: 60,878,662 (GRCm39) |
|
probably null |
Het |
Dspp |
A |
T |
5: 104,325,122 (GRCm39) |
D495V |
unknown |
Het |
Erich2 |
A |
T |
2: 70,340,043 (GRCm39) |
R169S |
probably damaging |
Het |
Erich2 |
C |
A |
2: 70,371,119 (GRCm39) |
S426R |
unknown |
Het |
Gab1 |
C |
T |
8: 81,526,771 (GRCm39) |
R109H |
probably damaging |
Het |
Ggcx |
GTCTAT |
GTCTATCTAT |
6: 72,406,140 (GRCm39) |
|
probably null |
Het |
Gria1 |
T |
G |
11: 57,080,542 (GRCm39) |
V175G |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,735,003 (GRCm39) |
V170M |
probably damaging |
Het |
Irx4 |
T |
A |
13: 73,414,703 (GRCm39) |
|
probably null |
Het |
Kirrel1 |
A |
G |
3: 87,005,109 (GRCm39) |
S80P |
probably benign |
Het |
Lrrc75b |
T |
C |
10: 75,389,488 (GRCm39) |
T81A |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,363,608 (GRCm39) |
S1775P |
probably damaging |
Het |
Mmp10 |
A |
T |
9: 7,507,340 (GRCm39) |
I387F |
probably damaging |
Het |
Mphosph10 |
A |
T |
7: 64,039,641 (GRCm39) |
C110S |
probably benign |
Het |
Mpig6b |
A |
G |
17: 35,283,424 (GRCm39) |
|
probably benign |
Het |
Mrps27 |
G |
T |
13: 99,546,303 (GRCm39) |
|
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Mybpc2 |
A |
G |
7: 44,161,994 (GRCm39) |
|
probably benign |
Het |
Nbea |
C |
T |
3: 55,550,257 (GRCm39) |
G2724S |
possibly damaging |
Het |
Nck2 |
A |
G |
1: 43,572,728 (GRCm39) |
M1V |
probably null |
Het |
Nefl |
T |
A |
14: 68,321,432 (GRCm39) |
D7E |
probably benign |
Het |
Nktr |
T |
A |
9: 121,579,806 (GRCm39) |
|
probably benign |
Het |
Nlrp12 |
C |
T |
7: 3,298,007 (GRCm39) |
E55K |
probably damaging |
Het |
Nsun7 |
T |
A |
5: 66,440,924 (GRCm39) |
|
probably benign |
Het |
Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
Or4c109 |
C |
T |
2: 88,818,322 (GRCm39) |
V75I |
probably benign |
Het |
Or4k5 |
T |
A |
14: 50,385,935 (GRCm39) |
Y132F |
probably damaging |
Het |
Or51a5 |
A |
T |
7: 102,771,643 (GRCm39) |
M112K |
possibly damaging |
Het |
Or6c2b |
T |
C |
10: 128,947,671 (GRCm39) |
T208A |
probably damaging |
Het |
Or6f2 |
T |
C |
7: 139,756,354 (GRCm39) |
V113A |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,046,217 (GRCm39) |
T165A |
probably damaging |
Het |
Pikfyve |
A |
T |
1: 65,259,058 (GRCm39) |
H410L |
probably damaging |
Het |
Polr3c |
A |
T |
3: 96,620,952 (GRCm39) |
|
probably null |
Het |
Ptdss2 |
T |
A |
7: 140,731,710 (GRCm39) |
|
probably benign |
Het |
Ptprg |
A |
G |
14: 12,237,138 (GRCm38) |
M1386V |
possibly damaging |
Het |
Ptpru |
T |
C |
4: 131,520,954 (GRCm39) |
N784S |
probably benign |
Het |
Rfx4 |
T |
A |
10: 84,730,196 (GRCm39) |
I495K |
possibly damaging |
Het |
Serpina12 |
C |
A |
12: 103,997,418 (GRCm39) |
A368S |
probably damaging |
Het |
Tmem39b |
A |
C |
4: 129,580,779 (GRCm39) |
Y238D |
possibly damaging |
Het |
Tspan11 |
T |
C |
6: 127,916,075 (GRCm39) |
W124R |
probably benign |
Het |
Ttll10 |
T |
C |
4: 156,132,005 (GRCm39) |
|
probably benign |
Het |
Tyro3 |
T |
C |
2: 119,633,711 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,045,127 (GRCm39) |
M644V |
probably benign |
Het |
Vmn1r196 |
G |
A |
13: 22,477,557 (GRCm39) |
M65I |
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,258,609 (GRCm39) |
Y482C |
probably damaging |
Het |
Zfp940 |
A |
G |
7: 29,545,445 (GRCm39) |
|
probably benign |
Het |
Zfyve9 |
A |
T |
4: 108,576,961 (GRCm39) |
L40* |
probably null |
Het |
Zkscan1 |
T |
A |
5: 138,091,588 (GRCm39) |
I107N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTCCTGCTCTGTACTGACCTG -3'
(R):5'- TGGGAGAAAGCCACACCTATCTGC -3'
Sequencing Primer
(F):5'- GAGACCCCTGGCAATTGAG -3'
(R):5'- TTGCCCCAGTTGACAAGGAC -3'
|
Posted On |
2013-06-12 |