Incidental Mutation 'IGL01385:Katna1'
| ID |
79015 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Katna1
|
| Ensembl Gene |
ENSMUSG00000019794 |
| Gene Name |
katanin p60 (ATPase-containing) subunit A1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.848)
|
| Stock # |
IGL01385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
7601764-7638914 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7628574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 268
(C268R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019929]
[ENSMUST00000165806]
[ENSMUST00000173400]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019929
AA Change: C266R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019929
Gene: ENSMUSG00000019794
AA Change: C266R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2RPA|A
|
1 |
72 |
2e-44 |
PDB |
|
AAA
|
241 |
383 |
5.2e-22 |
SMART |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
Pfam:Vps4_C
|
438 |
489 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165806
AA Change: C268R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132514
Gene: ENSMUSG00000019794
AA Change: C268R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2RPA|A
|
1 |
74 |
6e-46 |
PDB |
|
AAA
|
243 |
385 |
3.23e-20 |
SMART |
|
low complexity region
|
389 |
402 |
N/A |
INTRINSIC |
|
Pfam:Vps4_C
|
440 |
491 |
4.8e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173400
|
| SMART Domains |
Protein: ENSMUSP00000133588
Gene: ENSMUSG00000019794
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2RPA|A
|
1 |
72 |
3e-47 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174654
|
| Coding Region Coverage |
|
| 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. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
All alleles(15) : Targeted(2) Gene trapped(13)
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,057,346 (GRCm39) |
S292R |
probably damaging |
Het |
| Adamts19 |
A |
G |
18: 59,105,851 (GRCm39) |
T749A |
probably damaging |
Het |
| Agap2 |
A |
T |
10: 126,923,865 (GRCm39) |
I747F |
unknown |
Het |
| Arhgap35 |
T |
A |
7: 16,298,399 (GRCm39) |
N222I |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,125,256 (GRCm39) |
E1074G |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,354,101 (GRCm39) |
T4A |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,660,865 (GRCm39) |
S415P |
probably damaging |
Het |
| Dennd2a |
A |
G |
6: 39,500,070 (GRCm39) |
V165A |
probably damaging |
Het |
| Dnm1l |
T |
A |
16: 16,159,317 (GRCm39) |
E95V |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,817,995 (GRCm39) |
Y1609H |
possibly damaging |
Het |
| Esm1 |
A |
C |
13: 113,353,216 (GRCm39) |
E166A |
possibly damaging |
Het |
| F2rl2 |
A |
C |
13: 95,837,836 (GRCm39) |
I294L |
probably benign |
Het |
| Gstt3 |
A |
G |
10: 75,610,822 (GRCm39) |
S187P |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,140,233 (GRCm39) |
C66S |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,748,880 (GRCm39) |
E167K |
probably damaging |
Het |
| Or10ak16 |
T |
C |
4: 118,750,748 (GRCm39) |
L156S |
probably benign |
Het |
| Osbpl2 |
A |
G |
2: 179,778,873 (GRCm39) |
N2S |
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,537,895 (GRCm39) |
|
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,267 (GRCm39) |
V549E |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,620,520 (GRCm39) |
L780P |
probably damaging |
Het |
| Plcb3 |
A |
T |
19: 6,935,276 (GRCm39) |
D851E |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,749,560 (GRCm39) |
S1149G |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,869,178 (GRCm39) |
V469A |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,756,410 (GRCm39) |
V3468D |
probably damaging |
Het |
| Spmip3 |
G |
A |
1: 177,568,640 (GRCm39) |
G46R |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,431,074 (GRCm39) |
V412A |
possibly damaging |
Het |
| Vmn1r238 |
G |
T |
18: 3,122,770 (GRCm39) |
Q215K |
possibly damaging |
Het |
| Wdr11 |
A |
G |
7: 129,209,637 (GRCm39) |
M482V |
probably benign |
Het |
| Wdr72 |
T |
C |
9: 74,086,788 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,340,021 (GRCm39) |
L754P |
probably damaging |
Het |
| Zmym6 |
G |
A |
4: 127,017,899 (GRCm39) |
G1135S |
probably benign |
Het |
|
| Other mutations in Katna1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Katna1
|
APN |
10 |
7,638,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00332:Katna1
|
APN |
10 |
7,638,758 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01592:Katna1
|
APN |
10 |
7,617,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0018:Katna1
|
UTSW |
10 |
7,617,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Katna1
|
UTSW |
10 |
7,619,513 (GRCm39) |
intron |
probably benign |
|
|
R2078:Katna1
|
UTSW |
10 |
7,619,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2975:Katna1
|
UTSW |
10 |
7,619,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3978:Katna1
|
UTSW |
10 |
7,628,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3979:Katna1
|
UTSW |
10 |
7,628,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:Katna1
|
UTSW |
10 |
7,614,594 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4480:Katna1
|
UTSW |
10 |
7,614,594 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5796:Katna1
|
UTSW |
10 |
7,636,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7938:Katna1
|
UTSW |
10 |
7,637,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7965:Katna1
|
UTSW |
10 |
7,614,623 (GRCm39) |
missense |
probably benign |
|
|
R8275:Katna1
|
UTSW |
10 |
7,628,574 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8784:Katna1
|
UTSW |
10 |
7,614,579 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8842:Katna1
|
UTSW |
10 |
7,614,600 (GRCm39) |
missense |
probably benign |
|
|
R9018:Katna1
|
UTSW |
10 |
7,637,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Katna1
|
UTSW |
10 |
7,638,590 (GRCm39) |
missense |
probably null |
0.01 |
|
Z1176:Katna1
|
UTSW |
10 |
7,635,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation