Incidental Mutation 'R1419:Katnal2'
| ID |
160013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Katnal2
|
| Ensembl Gene |
ENSMUSG00000025420 |
| Gene Name |
katanin p60 subunit A-like 2 |
| Synonyms |
4933439B08Rik, 3110023G01Rik |
| MMRRC Submission |
039475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77064844-77135004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77065128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 481
(L481Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122984]
[ENSMUST00000126153]
[ENSMUST00000135029]
[ENSMUST00000137354]
[ENSMUST00000137498]
[ENSMUST00000148955]
[ENSMUST00000150990]
|
| AlphaFold |
Q9D3R6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122984
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126153
AA Change: L525Q
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: L525Q
| 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 benign
Transcript: ENSMUST00000137354
AA Change: L263Q
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118511
Gene: ENSMUSG00000025420
AA Change: L263Q
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
25 |
163 |
1.74e-16 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137498
AA Change: L481Q
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: L481Q
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
243 |
381 |
1.74e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148955
|
| SMART Domains |
Protein: ENSMUSP00000116243
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
193 |
1.4e-21 |
PFAM |
|
Pfam:HAD_2
|
161 |
223 |
1.1e-7 |
PFAM |
|
Pfam:Hydrolase_like
|
176 |
251 |
1.3e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150990
|
| SMART Domains |
Protein: ENSMUSP00000114212
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
193 |
1.4e-21 |
PFAM |
|
Pfam:HAD_2
|
161 |
223 |
1.1e-7 |
PFAM |
|
Pfam:Hydrolase_like
|
176 |
251 |
1.3e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154053
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,974,125 (GRCm39) |
M894K |
probably benign |
Het |
| Ablim1 |
C |
A |
19: 57,123,065 (GRCm39) |
C173F |
probably damaging |
Het |
| Abtb2 |
G |
T |
2: 103,539,765 (GRCm39) |
R710L |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,111,485 (GRCm39) |
T1144A |
possibly damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,938,516 (GRCm39) |
V92D |
probably damaging |
Het |
| Ash1l |
T |
G |
3: 88,892,204 (GRCm39) |
M1361R |
probably damaging |
Het |
| Atm |
A |
C |
9: 53,368,789 (GRCm39) |
N2337K |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,555,215 (GRCm39) |
E316G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,370,671 (GRCm39) |
Y858C |
probably damaging |
Het |
| Enc1 |
G |
T |
13: 97,382,692 (GRCm39) |
G401C |
probably damaging |
Het |
| Gata6 |
T |
C |
18: 11,064,706 (GRCm39) |
V506A |
probably benign |
Het |
| Gm16380 |
C |
T |
9: 53,791,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b8 |
G |
A |
17: 34,246,617 (GRCm39) |
R89C |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,847,531 (GRCm39) |
N322Y |
probably damaging |
Het |
| Igsf9 |
T |
A |
1: 172,325,578 (GRCm39) |
V1082E |
probably damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,417,710 (GRCm39) |
T713A |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,978,711 (GRCm39) |
T230A |
probably damaging |
Het |
| Klhl14 |
C |
A |
18: 21,785,250 (GRCm39) |
R59L |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,035,038 (GRCm39) |
C213R |
probably damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,397,717 (GRCm39) |
M178L |
probably benign |
Het |
| Myof |
T |
C |
19: 37,890,359 (GRCm39) |
E1971G |
probably damaging |
Het |
| Naa10 |
A |
G |
X: 72,961,522 (GRCm39) |
V133A |
probably damaging |
Het |
| Nlrp4g |
G |
A |
9: 124,349,434 (GRCm38) |
|
noncoding transcript |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,182,120 (GRCm39) |
I1047V |
probably benign |
Het |
| Or4a15 |
T |
C |
2: 89,193,666 (GRCm39) |
T36A |
probably damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,640 (GRCm39) |
F260I |
probably benign |
Het |
| Or5al1 |
A |
G |
2: 85,989,773 (GRCm39) |
*314Q |
probably null |
Het |
| Paip1 |
A |
G |
13: 119,593,553 (GRCm39) |
D189G |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,400,151 (GRCm39) |
F624L |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,943,454 (GRCm39) |
P1899H |
probably damaging |
Het |
| Rpa3 |
T |
A |
6: 8,257,720 (GRCm39) |
E47D |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,064,457 (GRCm39) |
T826A |
possibly damaging |
Het |
| Snai2 |
C |
T |
16: 14,526,044 (GRCm39) |
H232Y |
possibly damaging |
Het |
| Spint5 |
T |
C |
2: 164,557,331 (GRCm39) |
S23P |
possibly damaging |
Het |
| St8sia2 |
G |
A |
7: 73,616,742 (GRCm39) |
Q78* |
probably null |
Het |
| Tktl2 |
A |
G |
8: 66,965,690 (GRCm39) |
N416S |
probably damaging |
Het |
| Tm7sf3 |
T |
A |
6: 146,505,475 (GRCm39) |
I494F |
possibly damaging |
Het |
| Trf |
C |
T |
9: 103,103,307 (GRCm39) |
V119M |
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 |
|
|
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 |
|
|
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'- CTGCTGACATCCATGACACGAGAG -3'
(R):5'- GCTTTAAGCTCCATAGCCCCATCAC -3'
Sequencing Primer
(F):5'- GCTCATGTTTCCAaaggaacacag -3'
(R):5'- ACAGGATGTCTGCACTGTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation