Incidental Mutation 'R2990:Katnbl1'
| ID |
257878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Katnbl1
|
| Ensembl Gene |
ENSMUSG00000027132 |
| Gene Name |
katanin p80 subunit B like 1 |
| Synonyms |
2410042D21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.759)
|
| Stock # |
R2990 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
112209556-112244582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112234585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 22
(K22N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028552]
[ENSMUST00000141047]
|
| AlphaFold |
Q9CWJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028552
AA Change: K22N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028552
Gene: ENSMUSG00000027132
AA Change: K22N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Katanin_con80
|
144 |
295 |
1.1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141047
|
| SMART Domains |
Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
|
SCOP:d1qqea_
|
99 |
156 |
8e-3 |
SMART |
|
Pfam:AA_permease
|
175 |
369 |
6.6e-25 |
PFAM |
|
Pfam:AA_permease
|
438 |
746 |
3.6e-43 |
PFAM |
|
Pfam:SLC12
|
758 |
884 |
6.8e-20 |
PFAM |
|
Pfam:SLC12
|
877 |
1033 |
5.9e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151257
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
| Eipr1 |
C |
T |
12: 28,909,267 (GRCm39) |
T178I |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,805,758 (GRCm39) |
V608A |
probably damaging |
Het |
| Gimap3 |
G |
T |
6: 48,742,785 (GRCm39) |
F48L |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,561,678 (GRCm39) |
T152A |
possibly damaging |
Het |
| Lipm |
A |
G |
19: 34,093,886 (GRCm39) |
I268V |
probably benign |
Het |
| Mapk8ip3 |
T |
C |
17: 25,124,266 (GRCm39) |
I516V |
probably benign |
Het |
| Myo9a |
T |
C |
9: 59,832,172 (GRCm39) |
L2567P |
possibly damaging |
Het |
| Npy |
A |
G |
6: 49,804,492 (GRCm39) |
E71G |
possibly damaging |
Het |
| Parp2 |
A |
G |
14: 51,054,457 (GRCm39) |
T203A |
probably benign |
Het |
| Rprd1a |
A |
C |
18: 24,639,896 (GRCm39) |
L262V |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Stat5b |
T |
C |
11: 100,699,188 (GRCm39) |
|
probably null |
Het |
| Syde2 |
T |
C |
3: 145,707,252 (GRCm39) |
F664S |
probably damaging |
Het |
| Tenm4 |
G |
T |
7: 96,542,332 (GRCm39) |
|
probably null |
Het |
| Wapl |
A |
G |
14: 34,458,665 (GRCm39) |
N909S |
probably damaging |
Het |
|
| Other mutations in Katnbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03155:Katnbl1
|
APN |
2 |
112,239,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0053:Katnbl1
|
UTSW |
2 |
112,234,586 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0053:Katnbl1
|
UTSW |
2 |
112,234,586 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1676:Katnbl1
|
UTSW |
2 |
112,236,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Katnbl1
|
UTSW |
2 |
112,239,524 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2993:Katnbl1
|
UTSW |
2 |
112,238,963 (GRCm39) |
splice site |
probably null |
|
|
R5188:Katnbl1
|
UTSW |
2 |
112,240,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Katnbl1
|
UTSW |
2 |
112,239,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9652:Katnbl1
|
UTSW |
2 |
112,239,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCATTTGCACAGCATAGAG -3'
(R):5'- GGTGCTTATAATAAGTCAGTTCGAG -3'
Sequencing Primer
(F):5'- GAAAGATTGGACTCTGGCTT -3'
(R):5'- GAACAAAATGCATCTCTGAGTTCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation