Incidental Mutation 'R4480:Katna1'
| ID |
331434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Katna1
|
| Ensembl Gene |
ENSMUSG00000019794 |
| Gene Name |
katanin p60 (ATPase-containing) subunit A1 |
| Synonyms |
|
| MMRRC Submission |
041737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.848)
|
| Stock # |
R4480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
7601764-7638914 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7614594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 32
(V32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019929]
[ENSMUST00000165806]
[ENSMUST00000173400]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019929
AA Change: V32A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000019929
Gene: ENSMUSG00000019794
AA Change: V32A
| 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 benign
Transcript: ENSMUST00000165806
AA Change: V34A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132514
Gene: ENSMUSG00000019794
AA Change: V34A
| 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 |
probably damaging
Transcript: ENSMUST00000173400
AA Change: V32A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133588
Gene: ENSMUSG00000019794
AA Change: V32A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2RPA|A
|
1 |
72 |
3e-47 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174654
|
| Meta Mutation Damage Score |
0.2607 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,150,829 (GRCm39) |
F1135I |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,476,348 (GRCm39) |
F1490L |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,000,049 (GRCm39) |
Y446H |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,792,853 (GRCm39) |
Q703R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,084,182 (GRCm39) |
T935M |
probably damaging |
Het |
| Eif2s2 |
T |
C |
2: 154,730,190 (GRCm39) |
T36A |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,048,470 (GRCm39) |
Y555C |
probably damaging |
Het |
| Fpr2 |
C |
T |
17: 18,114,015 (GRCm39) |
T337I |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,337,986 (GRCm39) |
Q93L |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,140,145 (GRCm39) |
V119A |
possibly damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,227,151 (GRCm39) |
I769V |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,797,838 (GRCm39) |
*193W |
probably null |
Het |
| Nup107 |
T |
C |
10: 117,597,237 (GRCm39) |
I673V |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,141 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10g1 |
G |
A |
14: 52,647,765 (GRCm39) |
A188V |
probably damaging |
Het |
| Or2t48 |
G |
T |
11: 58,420,627 (GRCm39) |
P62T |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,805 (GRCm39) |
S62T |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,472,205 (GRCm39) |
V44A |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,733,404 (GRCm39) |
V804A |
possibly damaging |
Het |
| Rab35 |
C |
A |
5: 115,775,823 (GRCm39) |
S34* |
probably null |
Het |
| Slco6d1 |
T |
A |
1: 98,435,299 (GRCm39) |
Y671* |
probably null |
Het |
| Sostdc1 |
A |
G |
12: 36,367,165 (GRCm39) |
I114V |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,284,529 (GRCm39) |
F852S |
possibly damaging |
Het |
| Tmem179 |
T |
C |
12: 112,469,737 (GRCm39) |
E21G |
probably benign |
Het |
| Usp17la |
T |
A |
7: 104,509,897 (GRCm39) |
H167Q |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,117,999 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp985 |
A |
G |
4: 147,668,536 (GRCm39) |
D468G |
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 |
|
|
IGL01385:Katna1
|
APN |
10 |
7,628,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGGTCCATTGTAAACTTCC -3'
(R):5'- CCATGTAACCAAACTATATTCTCTGAG -3'
Sequencing Primer
(F):5'- GGAGCCCTGGAAAGTATATATACG -3'
(R):5'- TGAAGCTCTATGAGTCTGAAGCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation