Incidental Mutation 'IGL03203:Katnal2'
ID |
413061 |
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 # |
IGL03203
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
77064844-77135004 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 77095220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 194
(A194E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117495
(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: A238E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026486 Gene: ENSMUSG00000025420 AA Change: A238E
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 |
noncoding transcript
Transcript: ENSMUST00000125744
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126153
AA Change: A238E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122079 Gene: ENSMUSG00000025420 AA Change: A238E
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: A238E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115411 Gene: ENSMUSG00000025420 AA Change: A238E
Domain | Start | End | E-Value | Type |
LisH
|
25 |
57 |
8.53e-6 |
SMART |
AAA
|
287 |
372 |
2.95e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137354
AA Change: A9E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118511 Gene: ENSMUSG00000025420 AA Change: A9E
Domain | Start | End | E-Value | Type |
AAA
|
25 |
163 |
1.74e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137498
AA Change: A194E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117495 Gene: ENSMUSG00000025420 AA Change: A194E
Domain | Start | End | E-Value | Type |
AAA
|
243 |
381 |
1.74e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154053
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138336
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154665
|
SMART Domains |
Protein: ENSMUSP00000119066 Gene: ENSMUSG00000025420
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
T |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
T |
G |
7: 66,711,856 (GRCm39) |
I725S |
probably damaging |
Het |
Arhgef3 |
T |
C |
14: 27,116,073 (GRCm39) |
Y292H |
probably damaging |
Het |
Cdh19 |
C |
T |
1: 110,817,828 (GRCm39) |
C638Y |
possibly damaging |
Het |
Ces1c |
A |
T |
8: 93,851,216 (GRCm39) |
M136K |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 114,005,733 (GRCm39) |
I482V |
possibly damaging |
Het |
Col4a3 |
A |
T |
1: 82,650,360 (GRCm39) |
K539* |
probably null |
Het |
D630045J12Rik |
A |
G |
6: 38,145,156 (GRCm39) |
V1290A |
probably damaging |
Het |
Ear6 |
T |
G |
14: 52,091,703 (GRCm39) |
S83R |
probably benign |
Het |
Gdf10 |
T |
C |
14: 33,656,430 (GRCm39) |
V464A |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,296,182 (GRCm39) |
|
probably null |
Het |
Lpxn |
A |
T |
19: 12,796,770 (GRCm39) |
M97L |
probably benign |
Het |
Mn1 |
T |
C |
5: 111,569,269 (GRCm39) |
S1080P |
probably benign |
Het |
Nadk |
T |
C |
4: 155,669,708 (GRCm39) |
F89L |
probably damaging |
Het |
Nek5 |
G |
A |
8: 22,608,784 (GRCm39) |
R92W |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nipal4 |
C |
A |
11: 46,041,123 (GRCm39) |
L357F |
probably damaging |
Het |
Or12d12 |
A |
G |
17: 37,611,317 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,467,585 (GRCm39) |
N169D |
possibly damaging |
Het |
Plppr4 |
A |
G |
3: 117,119,540 (GRCm39) |
C290R |
possibly damaging |
Het |
Rxfp2 |
A |
G |
5: 149,987,145 (GRCm39) |
D332G |
probably benign |
Het |
Slc9b2 |
G |
A |
3: 135,031,973 (GRCm39) |
D278N |
probably damaging |
Het |
Taok1 |
A |
G |
11: 77,430,911 (GRCm39) |
V838A |
probably damaging |
Het |
Thoc1 |
T |
A |
18: 9,960,483 (GRCm39) |
|
probably benign |
Het |
Usp36 |
C |
T |
11: 118,176,636 (GRCm39) |
V61I |
probably benign |
Het |
Uxs1 |
A |
G |
1: 43,846,504 (GRCm39) |
|
probably benign |
Het |
Zmat4 |
C |
T |
8: 24,505,200 (GRCm39) |
H147Y |
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 |
IGL00976:Katnal2
|
APN |
18 |
77,105,189 (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 |
|
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 |
2016-08-02 |