Incidental Mutation 'IGL01532:Katnal2'
ID |
89799 |
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 # |
IGL01532
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
77064844-77135004 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77099696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 146
(H146R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119066
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026486]
[ENSMUST00000122984]
[ENSMUST00000123650]
[ENSMUST00000126153]
[ENSMUST00000135029]
[ENSMUST00000154665]
[ENSMUST00000137498]
[ENSMUST00000137354]
|
AlphaFold |
Q9D3R6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026486
AA Change: H146R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026486 Gene: ENSMUSG00000025420 AA Change: H146R
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 benign
Transcript: ENSMUST00000126153
AA Change: H146R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122079 Gene: ENSMUSG00000025420 AA Change: H146R
Domain | Start | End | E-Value | Type |
LisH
|
25 |
57 |
8.53e-6 |
SMART |
AAA
|
287 |
425 |
1.74e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135029
AA Change: H146R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115411 Gene: ENSMUSG00000025420 AA Change: H146R
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: ENSMUST00000154665
AA Change: H146R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119066 Gene: ENSMUSG00000025420 AA Change: H146R
Domain | Start | End | E-Value | Type |
LisH
|
25 |
57 |
8.53e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137498
AA Change: H104R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117495 Gene: ENSMUSG00000025420 AA Change: H104R
Domain | Start | End | E-Value | Type |
AAA
|
243 |
381 |
1.74e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138336
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
C |
A |
7: 66,558,349 (GRCm39) |
N264K |
probably damaging |
Het |
Adgrl3 |
C |
T |
5: 81,842,416 (GRCm39) |
T260I |
probably damaging |
Het |
Ambra1 |
G |
T |
2: 91,715,977 (GRCm39) |
K769N |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,980,936 (GRCm39) |
V357A |
possibly damaging |
Het |
Atp11b |
T |
A |
3: 35,903,651 (GRCm39) |
C76* |
probably null |
Het |
AW112010 |
C |
A |
19: 11,025,433 (GRCm39) |
|
noncoding transcript |
Het |
Bfar |
A |
T |
16: 13,505,251 (GRCm39) |
|
probably benign |
Het |
Ccdc70 |
T |
G |
8: 22,463,299 (GRCm39) |
L30V |
probably damaging |
Het |
Cep20 |
A |
G |
16: 14,122,375 (GRCm39) |
S130P |
probably benign |
Het |
Chrm5 |
C |
T |
2: 112,309,577 (GRCm39) |
R513Q |
probably benign |
Het |
Crem |
G |
A |
18: 3,276,732 (GRCm39) |
T7I |
probably benign |
Het |
Cyp4f39 |
C |
T |
17: 32,689,928 (GRCm39) |
|
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,208,660 (GRCm39) |
T849A |
probably benign |
Het |
Dock8 |
G |
T |
19: 25,146,805 (GRCm39) |
G1428V |
probably damaging |
Het |
Eomes |
T |
C |
9: 118,311,317 (GRCm39) |
I380T |
probably damaging |
Het |
Fam13a |
T |
C |
6: 58,917,280 (GRCm39) |
D532G |
probably damaging |
Het |
Gm10061 |
G |
T |
16: 88,948,190 (GRCm39) |
*55L |
probably null |
Het |
Gm27438 |
T |
G |
2: 87,083,269 (GRCm39) |
|
probably benign |
Het |
Gpalpp1 |
T |
C |
14: 76,339,942 (GRCm39) |
K124E |
probably benign |
Het |
Hgs |
T |
A |
11: 120,368,335 (GRCm39) |
|
probably null |
Het |
Hpn |
T |
A |
7: 30,802,938 (GRCm39) |
M121L |
possibly damaging |
Het |
Il1r1 |
T |
C |
1: 40,334,088 (GRCm39) |
|
probably null |
Het |
Jag2 |
A |
T |
12: 112,877,983 (GRCm39) |
C583S |
probably damaging |
Het |
Ldah |
T |
C |
12: 8,270,596 (GRCm39) |
|
probably benign |
Het |
Lvrn |
T |
A |
18: 47,033,551 (GRCm39) |
Y921N |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,423,743 (GRCm39) |
Y4572C |
possibly damaging |
Het |
Myo16 |
A |
G |
8: 10,450,551 (GRCm39) |
S518G |
probably benign |
Het |
Ncf1 |
T |
C |
5: 134,255,447 (GRCm39) |
N148S |
probably benign |
Het |
Nes |
T |
G |
3: 87,885,654 (GRCm39) |
D1260E |
possibly damaging |
Het |
Nup210 |
C |
A |
6: 91,062,981 (GRCm39) |
|
probably benign |
Het |
Or52b4i |
T |
C |
7: 102,191,863 (GRCm39) |
L240P |
probably damaging |
Het |
Rnf31 |
C |
A |
14: 55,840,080 (GRCm39) |
Q968K |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,967,034 (GRCm39) |
|
probably benign |
Het |
Ryk |
T |
C |
9: 102,774,465 (GRCm39) |
Y400H |
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,250,022 (GRCm39) |
|
probably null |
Het |
Sptssb |
A |
G |
3: 69,728,202 (GRCm39) |
|
probably benign |
Het |
Sstr5 |
T |
C |
17: 25,710,305 (GRCm39) |
D308G |
probably damaging |
Het |
Taf2 |
A |
G |
15: 54,912,882 (GRCm39) |
W493R |
possibly damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
Vti1b |
A |
C |
12: 79,211,912 (GRCm39) |
L1W |
probably null |
Het |
Wdr1 |
T |
C |
5: 38,692,530 (GRCm39) |
Y125C |
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 |
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 |
2013-12-03 |