Incidental Mutation 'R0592:Katnal2'
ID |
56040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Katnal2
|
Ensembl Gene |
ENSMUSG00000025420 |
Gene Name |
katanin p60 subunit A-like 2 |
Synonyms |
4933439B08Rik, 3110023G01Rik |
MMRRC Submission |
038782-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0592 (G1)
|
Quality Score |
115 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
77064844-77135004 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 77090256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117495
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026486]
[ENSMUST00000122984]
[ENSMUST00000126153]
[ENSMUST00000135029]
[ENSMUST00000137354]
[ENSMUST00000137354]
[ENSMUST00000137498]
[ENSMUST00000137498]
|
AlphaFold |
Q9D3R6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026486
|
SMART Domains |
Protein: ENSMUSP00000026486 Gene: ENSMUSG00000025420
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 null
Transcript: ENSMUST00000126153
|
SMART Domains |
Protein: ENSMUSP00000122079 Gene: ENSMUSG00000025420
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
|
SMART Domains |
Protein: ENSMUSP00000115411 Gene: ENSMUSG00000025420
Domain | Start | End | E-Value | Type |
LisH
|
25 |
57 |
8.53e-6 |
SMART |
AAA
|
287 |
372 |
2.95e-5 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137354
|
SMART Domains |
Protein: ENSMUSP00000118511 Gene: ENSMUSG00000025420
Domain | Start | End | E-Value | Type |
AAA
|
25 |
163 |
1.74e-16 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137354
|
SMART Domains |
Protein: ENSMUSP00000118511 Gene: ENSMUSG00000025420
Domain | Start | End | E-Value | Type |
AAA
|
25 |
163 |
1.74e-16 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137498
|
SMART Domains |
Protein: ENSMUSP00000117495 Gene: ENSMUSG00000025420
Domain | Start | End | E-Value | Type |
AAA
|
243 |
381 |
1.74e-16 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137498
|
SMART Domains |
Protein: ENSMUSP00000117495 Gene: ENSMUSG00000025420
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
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 |
|
IGL03203:Katnal2
|
APN |
18 |
77,095,220 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGTAGTCACAATCCAAGCGGAATC -3'
(R):5'- TTGTTCTCCAAGTACCCGCAGC -3'
Sequencing Primer
(F):5'- TCCAAGCGGAATCTAAGATATACATC -3'
(R):5'- GGAAAGGACTGCTGCTTTAC -3'
|
Posted On |
2013-07-11 |