Incidental Mutation 'R5184:Katnb1'
| ID |
397760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Katnb1
|
| Ensembl Gene |
ENSMUSG00000031787 |
| Gene Name |
katanin p80 (WD40-containing) subunit B 1 |
| Synonyms |
KAT, 2410003J24Rik |
| MMRRC Submission |
042763-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5184 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95807804-95826502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95824608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 534
(I534N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034239]
[ENSMUST00000034240]
[ENSMUST00000169353]
[ENSMUST00000169748]
[ENSMUST00000212968]
[ENSMUST00000213004]
|
| AlphaFold |
Q8BG40 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034239
AA Change: I534N
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
AA Change: I534N
| 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: ENSMUST00000211854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212968
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213004
|
| Meta Mutation Damage Score |
0.6416 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (63/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aph1a |
T |
A |
3: 95,803,051 (GRCm39) |
|
probably null |
Het |
| Arid3a |
A |
G |
10: 79,786,603 (GRCm39) |
E452G |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,605,506 (GRCm39) |
S68P |
unknown |
Het |
| Carf |
T |
C |
1: 60,147,333 (GRCm39) |
S17P |
probably damaging |
Het |
| Ccdc90b |
A |
G |
7: 92,224,019 (GRCm39) |
D145G |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,801,419 (GRCm39) |
I106T |
possibly damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,176,641 (GRCm39) |
V437A |
probably benign |
Het |
| E2f2 |
A |
T |
4: 135,911,751 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,779,182 (GRCm39) |
T221A |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fermt1 |
A |
G |
2: 132,783,883 (GRCm39) |
V42A |
possibly damaging |
Het |
| Fgf3 |
A |
G |
7: 144,396,547 (GRCm39) |
D187G |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,901,945 (GRCm38) |
V936E |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,772,099 (GRCm39) |
Y1093H |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,283,242 (GRCm39) |
|
probably benign |
Het |
| Kcnq5 |
A |
T |
1: 21,472,711 (GRCm39) |
D826E |
probably damaging |
Het |
| Klra9 |
A |
T |
6: 130,165,675 (GRCm39) |
N113K |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,899,657 (GRCm39) |
K453E |
probably damaging |
Het |
| Lgi4 |
C |
T |
7: 30,770,182 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,058 (GRCm39) |
S289G |
probably benign |
Het |
| Mapre1 |
T |
A |
2: 153,599,987 (GRCm39) |
V137E |
possibly damaging |
Het |
| Mark4 |
A |
G |
7: 19,181,168 (GRCm39) |
F144L |
possibly damaging |
Het |
| Mogat2 |
G |
T |
7: 98,872,842 (GRCm39) |
A114E |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,425,690 (GRCm39) |
L19P |
possibly damaging |
Het |
| Nfia |
A |
T |
4: 97,671,585 (GRCm39) |
K98N |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,345 (GRCm39) |
T857S |
possibly damaging |
Het |
| Or14a257 |
TG |
T |
7: 86,138,499 (GRCm39) |
|
probably null |
Het |
| Or52a5 |
T |
C |
7: 103,426,611 (GRCm39) |
K314E |
probably benign |
Het |
| Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,195,987 (GRCm39) |
L706P |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,134,296 (GRCm39) |
L117P |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,521,015 (GRCm39) |
S876P |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,254,399 (GRCm39) |
I478T |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,442,800 (GRCm39) |
E318K |
possibly damaging |
Het |
| Prr12 |
C |
A |
7: 44,695,801 (GRCm39) |
V1222L |
unknown |
Het |
| Prune2 |
T |
C |
19: 17,193,721 (GRCm39) |
S3070P |
possibly damaging |
Het |
| Rnf19a |
A |
G |
15: 36,244,342 (GRCm39) |
C573R |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,267,629 (GRCm39) |
S1072P |
probably damaging |
Het |
| Rskr |
T |
C |
11: 78,183,573 (GRCm39) |
F194L |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,729 (GRCm39) |
C394S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,850 (GRCm39) |
N315S |
possibly damaging |
Het |
| Snph |
T |
C |
2: 151,436,464 (GRCm39) |
I86V |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,376,463 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,032,323 (GRCm39) |
C145S |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,530,289 (GRCm39) |
E65G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 18,011,181 (GRCm38) |
E186* |
probably null |
Het |
| Tmem101 |
A |
G |
11: 102,047,059 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Trarg1 |
T |
A |
11: 76,571,134 (GRCm39) |
L50Q |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,580,162 (GRCm39) |
|
probably null |
Het |
| Usp10 |
G |
A |
8: 120,683,420 (GRCm39) |
V764I |
possibly damaging |
Het |
| Usp25 |
A |
G |
16: 76,906,115 (GRCm39) |
E857G |
probably benign |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,068,142 (GRCm39) |
L775P |
probably damaging |
Het |
| Xpnpep1 |
T |
C |
19: 53,001,845 (GRCm39) |
T134A |
probably benign |
Het |
| Zbtb10 |
T |
C |
3: 9,329,731 (GRCm39) |
V363A |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
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 |
|
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'- TTGTGTTAGAGCAGCCAGC -3'
(R):5'- ATTGACAGCTGCAGGGTTTG -3'
Sequencing Primer
(F):5'- GCTTCCATCAGCTGAGCACTG -3'
(R):5'- CTGCAGCAGTTTCTCGATCTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation