Incidental Mutation 'R1220:Katnal1'
| ID |
99991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Katnal1
|
| Ensembl Gene |
ENSMUSG00000041298 |
| Gene Name |
katanin p60 subunit A-like 1 |
| Synonyms |
|
| MMRRC Submission |
039289-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R1220 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
148808394-148865978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 148831061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 171
(A171V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047257]
[ENSMUST00000110509]
[ENSMUST00000147473]
|
| AlphaFold |
Q8K0T4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047257
AA Change: A171V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043210
Gene: ENSMUSG00000041298
AA Change: A171V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2RPA|A
|
1 |
72 |
3e-19 |
PDB |
|
low complexity region
|
100 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
138 |
N/A |
INTRINSIC |
|
AAA
|
238 |
380 |
3.01e-20 |
SMART |
|
Pfam:Vps4_C
|
437 |
486 |
2.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000110508
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110509
AA Change: A171V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106136
Gene: ENSMUSG00000041298
AA Change: A171V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2RPA|A
|
1 |
72 |
3e-20 |
PDB |
|
low complexity region
|
100 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
138 |
N/A |
INTRINSIC |
|
Blast:AAA
|
159 |
229 |
8e-7 |
BLAST |
|
PDB:4L16|A
|
184 |
234 |
3e-8 |
PDB |
|
SCOP:d1iqpa2
|
185 |
234 |
4e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147473
AA Change: A171V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120502
Gene: ENSMUSG00000106892
AA Change: A171V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2RPA|A
|
1 |
72 |
1e-20 |
PDB |
|
low complexity region
|
100 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
138 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0591 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU induced mutation display male infertility with decreased testis weight and premature exfoliation of spermatids from the seminiferous epithelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
A |
7: 119,257,537 (GRCm39) |
S407R |
probably benign |
Het |
| Add2 |
A |
T |
6: 86,063,982 (GRCm39) |
M94L |
possibly damaging |
Het |
| Anks6 |
A |
T |
4: 47,025,767 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
| Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
| Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,017,699 (GRCm39) |
T13A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,225,709 (GRCm39) |
|
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
| Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
| Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
| Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
| Pmel |
A |
G |
10: 128,549,929 (GRCm39) |
D30G |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,293 (GRCm39) |
Y505C |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
| Rad18 |
C |
A |
6: 112,626,625 (GRCm39) |
E141* |
probably null |
Het |
| Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
| Slamf9 |
C |
A |
1: 172,304,898 (GRCm39) |
Q171K |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
| Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
possibly damaging |
Het |
|
| Other mutations in Katnal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Katnal1
|
APN |
5 |
148,830,607 (GRCm39) |
splice site |
probably benign |
|
|
IGL02369:Katnal1
|
APN |
5 |
148,815,737 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0001:Katnal1
|
UTSW |
5 |
148,858,085 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0230:Katnal1
|
UTSW |
5 |
148,855,460 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0308:Katnal1
|
UTSW |
5 |
148,815,734 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0591:Katnal1
|
UTSW |
5 |
148,829,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Katnal1
|
UTSW |
5 |
148,841,486 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2163:Katnal1
|
UTSW |
5 |
148,825,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Katnal1
|
UTSW |
5 |
148,841,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5168:Katnal1
|
UTSW |
5 |
148,858,132 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6182:Katnal1
|
UTSW |
5 |
148,841,407 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6542:Katnal1
|
UTSW |
5 |
148,813,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6836:Katnal1
|
UTSW |
5 |
148,830,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7077:Katnal1
|
UTSW |
5 |
148,828,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7490:Katnal1
|
UTSW |
5 |
148,828,492 (GRCm39) |
missense |
probably null |
0.00 |
|
R9282:Katnal1
|
UTSW |
5 |
148,831,021 (GRCm39) |
nonsense |
probably null |
|
|
R9436:Katnal1
|
UTSW |
5 |
148,815,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCACACTTATTCAAGCCACACC -3'
(R):5'- TGGACCCACATGCACACATTCG -3'
Sequencing Primer
(F):5'- CGAGCAAACTCTATCAGTGTGTC -3'
(R):5'- GTTGTCACTGGCCATAACTTCTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation