Incidental Mutation 'IGL00976:Katnal2'
| ID |
29458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Katnal2
|
| Ensembl Gene |
ENSMUSG00000025420 |
| Gene Name |
katanin p60 subunit A-like 2 |
| Synonyms |
4933439B08Rik, 3110023G01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
77064844-77135004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77105189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 86
(Y86C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026486]
[ENSMUST00000122984]
[ENSMUST00000123650]
[ENSMUST00000126153]
[ENSMUST00000135029]
[ENSMUST00000137354]
[ENSMUST00000137498]
[ENSMUST00000154665]
|
| AlphaFold |
Q9D3R6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026486
AA Change: Y86C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026486
Gene: ENSMUSG00000025420
AA Change: Y86C
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
25 |
57 |
8.53e-6 |
SMART |
|
AAA
|
287 |
400 |
6.46e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123650
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126153
AA Change: Y86C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: Y86C
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
25 |
57 |
8.53e-6 |
SMART |
|
AAA
|
287 |
425 |
1.74e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135029
AA Change: Y86C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115411
Gene: ENSMUSG00000025420
AA Change: Y86C
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
25 |
57 |
8.53e-6 |
SMART |
|
AAA
|
287 |
372 |
2.95e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137354
|
| SMART Domains |
Protein: ENSMUSP00000118511
Gene: ENSMUSG00000025420
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
25 |
163 |
1.74e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137498
AA Change: Y44C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: Y44C
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
243 |
381 |
1.74e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154665
AA Change: Y86C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119066
Gene: ENSMUSG00000025420
AA Change: Y86C
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
25 |
57 |
8.53e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519F16Rik |
A |
G |
X: 102,226,868 (GRCm39) |
|
probably benign |
Het |
| Aldob |
C |
A |
4: 49,541,220 (GRCm39) |
V151L |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,239,846 (GRCm39) |
M298I |
probably benign |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,785,932 (GRCm39) |
T701M |
probably damaging |
Het |
| Ccdc190 |
A |
T |
1: 169,761,309 (GRCm39) |
H137L |
probably benign |
Het |
| Clhc1 |
G |
A |
11: 29,511,389 (GRCm39) |
D278N |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,942,166 (GRCm39) |
Y188C |
probably damaging |
Het |
| Dnah1 |
A |
C |
14: 31,000,095 (GRCm39) |
V2466G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,070,684 (GRCm39) |
T4457A |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,169 (GRCm39) |
Q3388R |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,493,557 (GRCm39) |
D316V |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,517,589 (GRCm39) |
V263A |
probably benign |
Het |
| Il6 |
G |
A |
5: 30,219,839 (GRCm39) |
G72S |
probably benign |
Het |
| Kdm7a |
G |
T |
6: 39,121,332 (GRCm39) |
S874R |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,171,741 (GRCm39) |
|
probably null |
Het |
| Nphs1 |
T |
G |
7: 30,160,110 (GRCm39) |
S130A |
possibly damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,100,701 (GRCm39) |
V444I |
probably benign |
Het |
| Numbl |
T |
C |
7: 26,968,235 (GRCm39) |
V144A |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,337,953 (GRCm39) |
Y138F |
probably benign |
Het |
| P2rx1 |
T |
C |
11: 72,903,826 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
G |
A |
18: 37,436,001 (GRCm39) |
V656I |
probably benign |
Het |
| Pole |
A |
G |
5: 110,471,438 (GRCm39) |
Y1394C |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,585 (GRCm39) |
M231K |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,184,081 (GRCm39) |
V174A |
possibly damaging |
Het |
| Rhox4f |
T |
C |
X: 36,786,048 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
T |
C |
12: 103,998,787 (GRCm39) |
Y317C |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,821,224 (GRCm39) |
I236N |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,102,657 (GRCm39) |
G32R |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,752,908 (GRCm39) |
|
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,755,542 (GRCm39) |
N894I |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,676,900 (GRCm39) |
E393G |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,736,491 (GRCm39) |
I485T |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,709,876 (GRCm39) |
M1687L |
probably benign |
Het |
| Ttc39c |
T |
C |
18: 12,817,952 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,961,293 (GRCm39) |
E378G |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,900,204 (GRCm39) |
N567Y |
probably damaging |
Het |
|
| Other mutations in Katnal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Katnal2
|
APN |
18 |
77,090,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01012:Katnal2
|
APN |
18 |
77,105,250 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01302:Katnal2
|
APN |
18 |
77,134,863 (GRCm39) |
splice site |
probably benign |
|
|
IGL01377:Katnal2
|
APN |
18 |
77,090,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01532:Katnal2
|
APN |
18 |
77,099,696 (GRCm39) |
missense |
probably benign |
|
|
IGL03203:Katnal2
|
APN |
18 |
77,095,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0592:Katnal2
|
UTSW |
18 |
77,090,256 (GRCm39) |
splice site |
probably null |
|
|
R1348:Katnal2
|
UTSW |
18 |
77,066,238 (GRCm39) |
splice site |
probably null |
|
|
R1419:Katnal2
|
UTSW |
18 |
77,065,128 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1755:Katnal2
|
UTSW |
18 |
77,099,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1772:Katnal2
|
UTSW |
18 |
77,090,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Katnal2
|
UTSW |
18 |
77,103,719 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1952:Katnal2
|
UTSW |
18 |
77,067,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2115:Katnal2
|
UTSW |
18 |
77,067,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Katnal2
|
UTSW |
18 |
77,098,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4765:Katnal2
|
UTSW |
18 |
77,065,239 (GRCm39) |
splice site |
probably null |
|
|
R5126:Katnal2
|
UTSW |
18 |
77,105,294 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5141:Katnal2
|
UTSW |
18 |
77,085,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5315:Katnal2
|
UTSW |
18 |
77,099,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5358:Katnal2
|
UTSW |
18 |
77,105,190 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5412:Katnal2
|
UTSW |
18 |
77,090,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Katnal2
|
UTSW |
18 |
77,105,151 (GRCm39) |
splice site |
probably null |
|
|
R6647:Katnal2
|
UTSW |
18 |
77,067,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6919:Katnal2
|
UTSW |
18 |
77,098,734 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7039:Katnal2
|
UTSW |
18 |
77,134,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7285:Katnal2
|
UTSW |
18 |
77,081,271 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1176:Katnal2
|
UTSW |
18 |
77,099,753 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation