Incidental Mutation 'R5529:Katnb1'
| ID |
433583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Katnb1
|
| Ensembl Gene |
ENSMUSG00000031787 |
| Gene Name |
katanin p80 (WD40-containing) subunit B 1 |
| Synonyms |
KAT, 2410003J24Rik |
| MMRRC Submission |
043087-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95807804-95826502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95824300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 495
(R495C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034239]
[ENSMUST00000034240]
[ENSMUST00000169353]
[ENSMUST00000169748]
[ENSMUST00000212968]
[ENSMUST00000213004]
|
| AlphaFold |
Q8BG40 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034239
AA Change: R495C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
AA Change: R495C
| 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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,304,040 (GRCm39) |
Y2079C |
probably damaging |
Het |
| Alg2 |
T |
C |
4: 47,472,101 (GRCm39) |
R236G |
probably damaging |
Het |
| Alpl |
T |
A |
4: 137,473,733 (GRCm39) |
N323I |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,976,238 (GRCm39) |
E172G |
probably benign |
Het |
| Atp8a2 |
A |
G |
14: 60,031,314 (GRCm39) |
|
probably null |
Het |
| Cadps |
T |
C |
14: 12,454,285 (GRCm38) |
K1078E |
probably damaging |
Het |
| Ccn5 |
T |
C |
2: 163,667,279 (GRCm39) |
|
probably null |
Het |
| Ces2e |
G |
T |
8: 105,656,543 (GRCm39) |
V258L |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,766,085 (GRCm39) |
F1041S |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,617,932 (GRCm39) |
I114V |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,229,587 (GRCm39) |
R496Q |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,714,126 (GRCm39) |
R1335S |
probably benign |
Het |
| F12 |
T |
C |
13: 55,569,872 (GRCm39) |
N102S |
probably benign |
Het |
| Fbn1 |
G |
A |
2: 125,215,870 (GRCm39) |
L712F |
probably benign |
Het |
| Fgf1 |
G |
T |
18: 38,991,657 (GRCm39) |
F37L |
probably damaging |
Het |
| Fgf14 |
T |
A |
14: 124,217,867 (GRCm39) |
H212L |
probably damaging |
Het |
| Gm10036 |
A |
T |
18: 15,965,858 (GRCm39) |
Q3L |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,310,126 (GRCm39) |
F789L |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,279,139 (GRCm39) |
T3074N |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,515,741 (GRCm39) |
H122Y |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,274 (GRCm39) |
S427L |
probably benign |
Het |
| Med9 |
T |
G |
11: 59,851,486 (GRCm39) |
V105G |
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 57,028,059 (GRCm39) |
V43D |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,448,873 (GRCm39) |
C359S |
possibly damaging |
Het |
| Or12k8 |
T |
A |
2: 36,974,921 (GRCm39) |
I280F |
possibly damaging |
Het |
| Or51e1 |
A |
T |
7: 102,358,900 (GRCm39) |
K145* |
probably null |
Het |
| Paxbp1 |
T |
A |
16: 90,827,401 (GRCm39) |
Y478F |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,480,332 (GRCm39) |
E92K |
probably benign |
Het |
| Prom1 |
G |
T |
5: 44,184,110 (GRCm39) |
L449M |
probably damaging |
Het |
| Psg28 |
G |
A |
7: 18,164,373 (GRCm39) |
T113I |
probably benign |
Het |
| Reln |
A |
C |
5: 22,137,713 (GRCm39) |
V2493G |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,416,055 (GRCm39) |
V1686I |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 79,129,867 (GRCm39) |
I122V |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,098,529 (GRCm39) |
Y721H |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,354,749 (GRCm39) |
F223S |
probably damaging |
Het |
| Son |
T |
A |
16: 91,452,354 (GRCm39) |
L367Q |
probably damaging |
Het |
| Spred2 |
G |
T |
11: 19,971,301 (GRCm39) |
D363Y |
probably damaging |
Het |
| Tbc1d8 |
T |
G |
1: 39,411,836 (GRCm39) |
Y1000S |
probably benign |
Het |
| Tdp2 |
A |
T |
13: 25,022,219 (GRCm39) |
K213* |
probably null |
Het |
| Tmem89 |
T |
C |
9: 108,744,545 (GRCm39) |
I146T |
probably damaging |
Het |
| Vhl |
T |
C |
6: 113,606,424 (GRCm39) |
V147A |
probably benign |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
| Vrk2 |
T |
C |
11: 26,449,036 (GRCm39) |
D186G |
probably damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,710,474 (GRCm39) |
F1222L |
possibly damaging |
Het |
| Zfp266 |
A |
G |
9: 20,418,030 (GRCm39) |
S7P |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,407 (GRCm39) |
I494K |
possibly damaging |
Het |
| Zfp655 |
A |
G |
5: 145,181,546 (GRCm39) |
E468G |
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 |
|
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'- TGAACCTGACATCATCCCTGC -3'
(R):5'- CAGTGCTCAGCTGATGGAAG -3'
Sequencing Primer
(F):5'- CACACGGAATGAGCCCATTGG -3'
(R):5'- GCTGGCTGCTCTAACACAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation