Incidental Mutation 'R9137:Katnb1'
| ID |
694088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Katnb1
|
| Ensembl Gene |
ENSMUSG00000031787 |
| Gene Name |
katanin p80 (WD40-containing) subunit B 1 |
| Synonyms |
KAT, 2410003J24Rik |
| MMRRC Submission |
068932-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95807804-95826502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95824320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 501
(M501I)
|
| 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: M501I
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
AA Change: M501I
| 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 |
probably benign
Transcript: ENSMUST00000212968
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213004
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,685,312 (GRCm39) |
K299R |
probably benign |
Het |
| Abca12 |
T |
G |
1: 71,298,525 (GRCm39) |
I2366L |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,688,133 (GRCm39) |
V1749A |
probably damaging |
Het |
| Ano9 |
C |
T |
7: 140,684,028 (GRCm39) |
V546M |
probably damaging |
Het |
| Atad5 |
A |
T |
11: 79,986,481 (GRCm39) |
S523C |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 135,996,744 (GRCm39) |
D115V |
possibly damaging |
Het |
| Ccdc18 |
T |
G |
5: 108,296,856 (GRCm39) |
C220G |
probably damaging |
Het |
| Cfap61 |
A |
C |
2: 146,042,685 (GRCm39) |
K1153Q |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,601,203 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,172 (GRCm39) |
K144R |
unknown |
Het |
| Cr2 |
A |
G |
1: 194,850,640 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
A |
C |
5: 145,406,413 (GRCm39) |
V13G |
unknown |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,109 (GRCm39) |
N72D |
unknown |
Het |
| Enah |
A |
G |
1: 181,739,160 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,246,511 (GRCm39) |
|
probably benign |
Het |
| Gabrr2 |
T |
A |
4: 33,095,571 (GRCm39) |
S487T |
probably benign |
Het |
| Gas2l2 |
G |
A |
11: 83,315,894 (GRCm39) |
T275M |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,496,238 (GRCm39) |
K3877E |
possibly damaging |
Het |
| Hhla1 |
G |
T |
15: 65,795,761 (GRCm39) |
Q482K |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,004,712 (GRCm39) |
T437A |
probably benign |
Het |
| Iars1 |
C |
T |
13: 49,855,350 (GRCm39) |
T259M |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itpk1 |
T |
C |
12: 102,540,291 (GRCm39) |
E264G |
probably benign |
Het |
| Kcna10 |
G |
A |
3: 107,102,497 (GRCm39) |
G376E |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,834,713 (GRCm39) |
F397I |
probably damaging |
Het |
| Klf14 |
A |
T |
6: 30,934,855 (GRCm39) |
C260S |
probably damaging |
Het |
| Lgi2 |
T |
A |
5: 52,695,361 (GRCm39) |
S533C |
probably damaging |
Het |
| Marveld1 |
A |
G |
19: 42,136,440 (GRCm39) |
D118G |
probably benign |
Het |
| Msln |
C |
T |
17: 25,969,084 (GRCm39) |
A434T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,150,502 (GRCm39) |
|
probably benign |
Het |
| Nes |
G |
T |
3: 87,878,651 (GRCm39) |
G48W |
probably damaging |
Het |
| Or5k3 |
T |
A |
16: 58,969,635 (GRCm39) |
C141S |
probably benign |
Het |
| Osmr |
T |
A |
15: 6,856,709 (GRCm39) |
E479D |
probably benign |
Het |
| Otop3 |
A |
G |
11: 115,235,868 (GRCm39) |
H500R |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
C |
T |
7: 24,310,723 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3a |
T |
A |
12: 101,021,794 (GRCm39) |
I369F |
possibly damaging |
Het |
| Rarres1 |
T |
A |
3: 67,422,801 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,214,736 (GRCm39) |
V1287A |
probably damaging |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,072,647 (GRCm39) |
C498* |
probably null |
Het |
| Smtn |
T |
G |
11: 3,472,838 (GRCm39) |
K278T |
possibly damaging |
Het |
| Sp140 |
T |
C |
1: 85,570,297 (GRCm39) |
S405P |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,715 (GRCm39) |
I155N |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,712,433 (GRCm39) |
V77A |
probably benign |
Het |
| St8sia2 |
T |
G |
7: 73,610,654 (GRCm39) |
I210L |
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,840,572 (GRCm39) |
I418T |
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,695,990 (GRCm39) |
F88L |
probably damaging |
Het |
| Trim66 |
C |
T |
7: 109,074,330 (GRCm39) |
V644M |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,612,486 (GRCm39) |
I1253T |
probably benign |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,409 (GRCm39) |
N736D |
probably damaging |
Het |
| Zfat |
T |
A |
15: 68,051,794 (GRCm39) |
T667S |
probably benign |
Het |
| Zfp874a |
T |
C |
13: 67,590,841 (GRCm39) |
E281G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAGGCCTCGGACTTCTTGC -3'
(R):5'- AGGCATGAAACAAACTGTGCC -3'
Sequencing Primer
(F):5'- TCGGACTTCTTGCCCGTGAG -3'
(R):5'- CCAACAGGAGGGCAAGGC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation