Incidental Mutation 'R1348:Katnal2'
| ID |
156584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Katnal2
|
| Ensembl Gene |
ENSMUSG00000025420 |
| Gene Name |
katanin p60 subunit A-like 2 |
| Synonyms |
4933439B08Rik, 3110023G01Rik |
| MMRRC Submission |
039413-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1348 (G1)
|
| Quality Score |
135 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77064844-77135004 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 77066238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122984]
[ENSMUST00000126153]
[ENSMUST00000135029]
[ENSMUST00000137354]
[ENSMUST00000137354]
[ENSMUST00000137498]
[ENSMUST00000137498]
|
| AlphaFold |
Q9D3R6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122984
|
| 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: ENSMUST00000154053
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,593,212 (GRCm39) |
|
probably null |
Het |
| Art1 |
G |
A |
7: 101,756,579 (GRCm39) |
A33T |
possibly damaging |
Het |
| Aspa |
G |
A |
11: 73,215,309 (GRCm39) |
T2I |
probably damaging |
Het |
| Cntn1 |
C |
T |
15: 92,212,544 (GRCm39) |
T902I |
probably damaging |
Het |
| Dpep1 |
G |
A |
8: 123,925,899 (GRCm39) |
C118Y |
probably benign |
Het |
| Garin1a |
A |
G |
6: 29,283,284 (GRCm39) |
H36R |
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,211,338 (GRCm39) |
V631I |
possibly damaging |
Het |
| Igf1r |
C |
G |
7: 67,868,216 (GRCm39) |
N1220K |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,635 (GRCm39) |
I28N |
probably damaging |
Het |
| Klrb1a |
T |
C |
6: 128,586,797 (GRCm39) |
D156G |
possibly damaging |
Het |
| Kpna6 |
G |
A |
4: 129,555,152 (GRCm39) |
R26* |
probably null |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Naa15 |
C |
G |
3: 51,373,091 (GRCm39) |
C661W |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,124 (GRCm39) |
I6T |
probably benign |
Het |
| Or1e1 |
G |
T |
11: 73,244,682 (GRCm39) |
M34I |
probably benign |
Het |
| Or8g20 |
A |
G |
9: 39,396,532 (GRCm39) |
S3P |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,831,904 (GRCm39) |
V328A |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,784,806 (GRCm39) |
T1993A |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,184,106 (GRCm39) |
V865I |
probably benign |
Het |
| Racgap1 |
A |
G |
15: 99,524,246 (GRCm39) |
I387T |
possibly damaging |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rbms2 |
C |
T |
10: 128,012,214 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,593,411 (GRCm39) |
I140T |
probably benign |
Het |
| Shld2 |
T |
A |
14: 33,990,880 (GRCm39) |
I9F |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,911,708 (GRCm39) |
|
probably null |
Het |
| Speg |
G |
A |
1: 75,399,516 (GRCm39) |
G2321D |
probably damaging |
Het |
| Trp53tg5 |
A |
G |
2: 164,315,521 (GRCm39) |
|
probably null |
Het |
| Tyw3 |
A |
C |
3: 154,299,451 (GRCm39) |
M86R |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Zfp472 |
T |
A |
17: 33,196,794 (GRCm39) |
F290I |
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 |
|
R0592:Katnal2
|
UTSW |
18 |
77,090,256 (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'- GACTTCTGCGCGAAAAGCAAGG -3'
(R):5'- CGTATTTGATGGCACGAGGGAACTG -3'
Sequencing Primer
(F):5'- cttgttcccgctttagttcc -3'
(R):5'- GGGAACTGTCACCCAGATG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation