Incidental Mutation 'V8831:Ahsa1'
ID |
44629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahsa1
|
Ensembl Gene |
ENSMUSG00000021037 |
Gene Name |
AHA1, activator of heat shock protein ATPase 1 |
Synonyms |
Aha1, p38 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
V8831 ()
of strain
710
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
87313253-87320772 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87316697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 107
(N107S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021425]
[ENSMUST00000072744]
[ENSMUST00000179379]
[ENSMUST00000223352]
|
AlphaFold |
Q8BK64 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021425
AA Change: N107S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021425 Gene: ENSMUSG00000021037 AA Change: N107S
Domain | Start | End | E-Value | Type |
Aha1_N
|
29 |
161 |
1.16e-56 |
SMART |
low complexity region
|
187 |
199 |
N/A |
INTRINSIC |
Pfam:AHSA1
|
216 |
332 |
2.7e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072744
|
SMART Domains |
Protein: ENSMUSP00000072527 Gene: ENSMUSG00000021038
Domain | Start | End | E-Value | Type |
Pfam:Golgin_A5
|
24 |
489 |
3.7e-154 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179379
|
SMART Domains |
Protein: ENSMUSP00000137190 Gene: ENSMUSG00000021038
Domain | Start | End | E-Value | Type |
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222728
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223002
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223239
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223352
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap23 |
A |
G |
11: 97,347,371 (GRCm39) |
I690V |
probably benign |
Het |
Bard1 |
G |
A |
1: 71,127,376 (GRCm39) |
P78S |
probably damaging |
Het |
Ccar1 |
G |
A |
10: 62,583,185 (GRCm39) |
T976I |
unknown |
Het |
Cdc7 |
T |
A |
5: 107,116,776 (GRCm39) |
N50K |
probably benign |
Het |
Cep85 |
C |
T |
4: 133,883,380 (GRCm39) |
E170K |
possibly damaging |
Het |
Cpsf2 |
C |
T |
12: 101,969,400 (GRCm39) |
R757C |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 48,321,092 (GRCm39) |
D239E |
probably damaging |
Het |
Dnah7b |
T |
G |
1: 46,412,458 (GRCm39) |
Y4022* |
probably null |
Het |
Elmo3 |
A |
G |
8: 106,033,693 (GRCm39) |
N179S |
probably benign |
Het |
H2bc11 |
G |
C |
13: 22,227,451 (GRCm39) |
|
probably benign |
Het |
H2-T24 |
T |
A |
17: 36,328,216 (GRCm39) |
Q89L |
probably damaging |
Het |
Irak4 |
T |
C |
15: 94,459,365 (GRCm39) |
I327T |
probably damaging |
Het |
Itpr2 |
A |
T |
6: 146,287,380 (GRCm39) |
L157Q |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,059,878 (GRCm39) |
D656N |
probably benign |
Het |
Lrrc72 |
G |
T |
12: 36,258,656 (GRCm39) |
T67K |
possibly damaging |
Het |
Map2 |
T |
G |
1: 66,455,004 (GRCm39) |
I1298S |
probably damaging |
Het |
Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
Ndst1 |
G |
A |
18: 60,835,999 (GRCm39) |
A428V |
probably damaging |
Het |
Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
Or2w1b |
T |
C |
13: 21,300,173 (GRCm39) |
Y104H |
possibly damaging |
Het |
Or5k14 |
G |
T |
16: 58,693,438 (GRCm39) |
T25K |
probably benign |
Het |
Or5p4 |
C |
T |
7: 107,680,742 (GRCm39) |
A247V |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,334,119 (GRCm39) |
V170A |
probably damaging |
Het |
Rfx6 |
G |
A |
10: 51,594,304 (GRCm39) |
|
probably null |
Het |
Shprh |
G |
A |
10: 11,062,606 (GRCm39) |
D1238N |
probably damaging |
Het |
Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,398,262 (GRCm39) |
I676F |
possibly damaging |
Het |
Smoc1 |
A |
G |
12: 81,215,029 (GRCm39) |
D305G |
probably damaging |
Het |
Spdef |
C |
T |
17: 27,937,051 (GRCm39) |
R184H |
probably damaging |
Het |
Stxbp4 |
C |
T |
11: 90,371,497 (GRCm39) |
A535T |
probably benign |
Het |
Tcp11l1 |
C |
G |
2: 104,515,829 (GRCm39) |
V345L |
probably benign |
Het |
Ticam1 |
TC |
T |
17: 56,576,969 (GRCm39) |
708 |
probably null |
Het |
Ttc28 |
A |
T |
5: 111,248,578 (GRCm39) |
Y177F |
probably benign |
Het |
Ugt2b34 |
A |
T |
5: 87,054,533 (GRCm39) |
Y83N |
probably benign |
Het |
Vmn2r30 |
G |
A |
7: 7,337,148 (GRCm39) |
R163C |
probably benign |
Het |
Xirp1 |
T |
G |
9: 120,016,907 (GRCm38) |
Q970P |
probably benign |
Het |
|
Other mutations in Ahsa1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
BB001:Ahsa1
|
UTSW |
12 |
87,317,230 (GRCm39) |
critical splice donor site |
probably null |
|
BB011:Ahsa1
|
UTSW |
12 |
87,317,230 (GRCm39) |
critical splice donor site |
probably null |
|
R0780:Ahsa1
|
UTSW |
12 |
87,315,102 (GRCm39) |
missense |
probably benign |
0.20 |
R4817:Ahsa1
|
UTSW |
12 |
87,319,940 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7021:Ahsa1
|
UTSW |
12 |
87,318,154 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7133:Ahsa1
|
UTSW |
12 |
87,317,116 (GRCm39) |
missense |
probably benign |
0.00 |
R7437:Ahsa1
|
UTSW |
12 |
87,314,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R7924:Ahsa1
|
UTSW |
12 |
87,317,230 (GRCm39) |
critical splice donor site |
probably null |
|
R8203:Ahsa1
|
UTSW |
12 |
87,315,042 (GRCm39) |
missense |
probably damaging |
0.97 |
R8397:Ahsa1
|
UTSW |
12 |
87,320,451 (GRCm39) |
nonsense |
probably null |
|
R8779:Ahsa1
|
UTSW |
12 |
87,319,973 (GRCm39) |
missense |
probably benign |
0.01 |
R8964:Ahsa1
|
UTSW |
12 |
87,318,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R9340:Ahsa1
|
UTSW |
12 |
87,315,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCCCAGAGTGGAGGGTCACAAG -3'
(R):5'- GCTCATCTTTGGCAAGGCTCACAC -3'
Sequencing Primer
(F):5'- GAAGCCTAAGTAGGACACTGCTC -3'
(R):5'- TACATACAAGTTGCTCGGGAC -3'
|
Posted On |
2013-06-11 |