Incidental Mutation 'IGL00886:Katnal2'
| ID |
29386 |
| 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 # |
IGL00886
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
77064844-77135004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77090450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 248
(L248Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026486]
[ENSMUST00000122984]
[ENSMUST00000126153]
[ENSMUST00000135029]
[ENSMUST00000137354]
[ENSMUST00000137498]
|
| AlphaFold |
Q9D3R6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026486
AA Change: L292Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026486
Gene: ENSMUSG00000025420
AA Change: L292Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000125744
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126153
AA Change: L292Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: L292Q
| 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: L292Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115411
Gene: ENSMUSG00000025420
AA Change: L292Q
| 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: L30Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118511
Gene: ENSMUSG00000025420
AA Change: L30Q
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
25 |
163 |
1.74e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137498
AA Change: L248Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: L248Q
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
243 |
381 |
1.74e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154053
|
| 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 |
|---|
| Abca9 |
C |
T |
11: 110,054,101 (GRCm39) |
R67H |
possibly damaging |
Het |
| Ak4 |
G |
T |
4: 101,304,386 (GRCm39) |
E59* |
probably null |
Het |
| Ano10 |
T |
C |
9: 122,100,390 (GRCm39) |
N116S |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,177,254 (GRCm39) |
H658Q |
probably damaging |
Het |
| Atf2 |
G |
A |
2: 73,675,847 (GRCm39) |
T208I |
possibly damaging |
Het |
| Bco1 |
T |
C |
8: 117,857,376 (GRCm39) |
W448R |
probably damaging |
Het |
| Cel |
A |
T |
2: 28,449,397 (GRCm39) |
C277S |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,444,156 (GRCm39) |
D296E |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,507,714 (GRCm39) |
|
probably null |
Het |
| Gdpgp1 |
T |
G |
7: 79,889,100 (GRCm39) |
L377R |
probably damaging |
Het |
| Gm26938 |
T |
A |
5: 139,812,091 (GRCm39) |
D3V |
probably damaging |
Het |
| Gpld1 |
T |
A |
13: 25,146,336 (GRCm39) |
Y193* |
probably null |
Het |
| Gtf2h4 |
T |
C |
17: 35,980,874 (GRCm39) |
H265R |
probably damaging |
Het |
| Hadh |
G |
T |
3: 131,043,465 (GRCm39) |
T83K |
probably benign |
Het |
| Hao1 |
T |
C |
2: 134,365,079 (GRCm39) |
M183V |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,715,525 (GRCm39) |
Y523H |
probably damaging |
Het |
| Il23r |
G |
T |
6: 67,450,874 (GRCm39) |
Q202K |
possibly damaging |
Het |
| Iyd |
T |
C |
10: 3,540,444 (GRCm38) |
D50A |
probably benign |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,267 (GRCm39) |
V118E |
possibly damaging |
Het |
| Lzic |
T |
C |
4: 149,577,753 (GRCm39) |
|
probably null |
Het |
| Meak7 |
T |
C |
8: 120,500,007 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,914,279 (GRCm39) |
N316K |
probably benign |
Het |
| Ndufc2 |
T |
A |
7: 97,049,397 (GRCm39) |
M1K |
probably null |
Het |
| Net1 |
A |
G |
13: 3,943,391 (GRCm39) |
|
probably benign |
Het |
| Or13g1 |
G |
A |
7: 85,956,259 (GRCm39) |
L21F |
probably damaging |
Het |
| Pde1c |
A |
G |
6: 56,150,659 (GRCm39) |
Y287H |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,665 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
T |
A |
2: 60,254,668 (GRCm39) |
E1300V |
probably damaging |
Het |
| Polr3g |
T |
C |
13: 81,842,796 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,723,654 (GRCm39) |
E4137V |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,920,643 (GRCm39) |
D1425G |
possibly damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,174,376 (GRCm39) |
Y23H |
possibly damaging |
Het |
| Spef2 |
C |
A |
15: 9,663,181 (GRCm39) |
G867W |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,656,933 (GRCm39) |
Y698N |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,934,485 (GRCm39) |
F533I |
probably damaging |
Het |
|
| Other mutations in Katnal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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