Incidental Mutation 'IGL02542:Ahsa2'
| ID |
297708 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ahsa2
|
| Ensembl Gene |
ENSMUSG00000020288 |
| Gene Name |
AHA1, activator of heat shock protein ATPase 2 |
| Synonyms |
1110064P04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
23437882-23448030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23440559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 231
(T231S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020529]
[ENSMUST00000109539]
[ENSMUST00000128559]
[ENSMUST00000180046]
[ENSMUST00000147157]
[ENSMUST00000129368]
|
| AlphaFold |
Q8N9S3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020529
AA Change: T279S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000020529
Gene: ENSMUSG00000020288
AA Change: T279S
| Domain | Start | End | E-Value | Type |
|---|
|
Aha1_N
|
29 |
163 |
2.52e-57 |
SMART |
|
Pfam:AHSA1
|
209 |
325 |
1.4e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109539
AA Change: T231S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105166
Gene: ENSMUSG00000020288
AA Change: T231S
| Domain | Start | End | E-Value | Type |
|---|
|
Aha1_N
|
2 |
115 |
2.33e-38 |
SMART |
|
Pfam:AHSA1
|
161 |
277 |
4.3e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125701
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128372
AA Change: T264S
|
| SMART Domains |
Protein: ENSMUSP00000121255
Gene: ENSMUSG00000020288
AA Change: T264S
| Domain | Start | End | E-Value | Type |
|---|
|
Aha1_N
|
15 |
149 |
2.52e-57 |
SMART |
|
Pfam:AHSA1
|
195 |
311 |
7.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128559
|
| SMART Domains |
Protein: ENSMUSP00000115134
Gene: ENSMUSG00000020288
| Domain | Start | End | E-Value | Type |
|---|
|
Aha1_N
|
29 |
159 |
1.59e-54 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180046
|
| SMART Domains |
Protein: ENSMUSP00000137430
Gene: ENSMUSG00000056342
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
469 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
590 |
N/A |
INTRINSIC |
|
coiled coil region
|
607 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
807 |
822 |
N/A |
INTRINSIC |
|
low complexity region
|
1187 |
1198 |
N/A |
INTRINSIC |
|
low complexity region
|
1379 |
1390 |
N/A |
INTRINSIC |
|
low complexity region
|
1498 |
1512 |
N/A |
INTRINSIC |
|
low complexity region
|
1731 |
1744 |
N/A |
INTRINSIC |
|
low complexity region
|
1792 |
1804 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
1930 |
2273 |
2.3e-44 |
PFAM |
|
Pfam:UCH_1
|
1931 |
2229 |
1.1e-22 |
PFAM |
|
low complexity region
|
2522 |
2544 |
N/A |
INTRINSIC |
|
low complexity region
|
2652 |
2659 |
N/A |
INTRINSIC |
|
Blast:Drf_GBD
|
2923 |
3096 |
2e-53 |
BLAST |
|
low complexity region
|
3324 |
3337 |
N/A |
INTRINSIC |
|
coiled coil region
|
3352 |
3374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153409
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147157
|
| SMART Domains |
Protein: ENSMUSP00000121920
Gene: ENSMUSG00000020288
| Domain | Start | End | E-Value | Type |
|---|
|
Aha1_N
|
29 |
138 |
4.15e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137823
|
| SMART Domains |
Protein: ENSMUSP00000120747
Gene: ENSMUSG00000056342
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
489 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
610 |
N/A |
INTRINSIC |
|
coiled coil region
|
626 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
1207 |
1218 |
N/A |
INTRINSIC |
|
low complexity region
|
1399 |
1410 |
N/A |
INTRINSIC |
|
low complexity region
|
1518 |
1532 |
N/A |
INTRINSIC |
|
low complexity region
|
1751 |
1764 |
N/A |
INTRINSIC |
|
low complexity region
|
1812 |
1824 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
1950 |
2293 |
7.6e-44 |
PFAM |
|
Pfam:UCH_1
|
1951 |
2249 |
3.6e-22 |
PFAM |
|
low complexity region
|
2542 |
2564 |
N/A |
INTRINSIC |
|
low complexity region
|
2672 |
2679 |
N/A |
INTRINSIC |
|
Blast:Drf_GBD
|
2943 |
3116 |
3e-53 |
BLAST |
|
low complexity region
|
3344 |
3357 |
N/A |
INTRINSIC |
|
coiled coil region
|
3371 |
3393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129368
|
| SMART Domains |
Protein: ENSMUSP00000121426
Gene: ENSMUSG00000056342
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Drf_GBD
|
2 |
86 |
1e-19 |
BLAST |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
coiled coil region
|
259 |
281 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef1 |
A |
G |
1: 10,243,067 (GRCm39) |
L1091P |
probably benign |
Het |
| Arhgap32 |
A |
T |
9: 32,166,944 (GRCm39) |
K527M |
probably damaging |
Het |
| Caap1 |
T |
C |
4: 94,438,742 (GRCm39) |
N149S |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,846,252 (GRCm39) |
|
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,902,763 (GRCm39) |
I929K |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,014,408 (GRCm39) |
Y608H |
probably damaging |
Het |
| Foxj3 |
A |
G |
4: 119,477,540 (GRCm39) |
N416S |
unknown |
Het |
| Gm20547 |
T |
C |
17: 35,076,236 (GRCm39) |
S1151G |
possibly damaging |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,199 (GRCm39) |
I39N |
probably damaging |
Het |
| Igkv11-125 |
A |
C |
6: 67,890,991 (GRCm39) |
E102A |
probably damaging |
Het |
| Mdc1 |
C |
A |
17: 36,164,048 (GRCm39) |
P1199T |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,267,862 (GRCm39) |
S11P |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,071,801 (GRCm39) |
R477G |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,094,518 (GRCm39) |
F514L |
probably damaging |
Het |
| Pde6c |
G |
T |
19: 38,166,578 (GRCm39) |
D707Y |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,901,222 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,165,995 (GRCm39) |
I2079F |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,227,145 (GRCm39) |
D668G |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,498,416 (GRCm39) |
Y887C |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,701 (GRCm39) |
E62G |
possibly damaging |
Het |
| Rnf25 |
T |
C |
1: 74,633,260 (GRCm39) |
E364G |
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,087,490 (GRCm39) |
D578E |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,252,302 (GRCm39) |
D3A |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,721,284 (GRCm39) |
Y294H |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,615,687 (GRCm39) |
T811A |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,286 (GRCm39) |
T996A |
probably damaging |
Het |
| Tmem132b |
A |
C |
5: 125,699,558 (GRCm39) |
Q73P |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,786,553 (GRCm39) |
I1275N |
possibly damaging |
Het |
| Vasp |
A |
T |
7: 18,998,705 (GRCm39) |
D17E |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,388,414 (GRCm39) |
T700A |
probably benign |
Het |
| Ythdc2 |
T |
G |
18: 44,973,308 (GRCm39) |
L315W |
probably damaging |
Het |
| Zfp385c |
A |
G |
11: 100,520,742 (GRCm39) |
V306A |
probably damaging |
Het |
|
| Other mutations in Ahsa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Ahsa2
|
APN |
11 |
23,446,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01512:Ahsa2
|
APN |
11 |
23,441,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03031:Ahsa2
|
APN |
11 |
23,440,426 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0454:Ahsa2
|
UTSW |
11 |
23,440,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Ahsa2
|
UTSW |
11 |
23,443,162 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5126:Ahsa2
|
UTSW |
11 |
23,441,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6561:Ahsa2
|
UTSW |
11 |
23,441,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7330:Ahsa2
|
UTSW |
11 |
23,440,558 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7361:Ahsa2
|
UTSW |
11 |
23,441,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Ahsa2
|
UTSW |
11 |
23,446,750 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7703:Ahsa2
|
UTSW |
11 |
23,440,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9053:Ahsa2
|
UTSW |
11 |
23,443,314 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation