Incidental Mutation 'R6561:Ahsa2'
| ID |
523140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahsa2
|
| Ensembl Gene |
ENSMUSG00000020288 |
| Gene Name |
AHA1, activator of heat shock protein ATPase 2 |
| Synonyms |
1110064P04Rik |
| MMRRC Submission |
044685-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6561 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
23437882-23448030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23441036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 202
(I202F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020529]
[ENSMUST00000109539]
[ENSMUST00000128559]
[ENSMUST00000129368]
[ENSMUST00000180046]
[ENSMUST00000147157]
|
| AlphaFold |
Q8N9S3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020529
AA Change: I250F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020529
Gene: ENSMUSG00000020288
AA Change: I250F
| 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: I202F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105166
Gene: ENSMUSG00000020288
AA Change: I202F
| 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: I235F
|
| SMART Domains |
Protein: ENSMUSP00000121255
Gene: ENSMUSG00000020288
AA Change: I235F
| 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 |
noncoding transcript
Transcript: ENSMUST00000153409
|
| 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 |
|
| 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: 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 |
probably benign
Transcript: ENSMUST00000147157
|
| SMART Domains |
Protein: ENSMUSP00000121920
Gene: ENSMUSG00000020288
| Domain | Start | End | E-Value | Type |
|---|
|
Aha1_N
|
29 |
138 |
4.15e-26 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,977,825 (GRCm39) |
I468F |
probably benign |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,505,919 (GRCm39) |
V639A |
probably damaging |
Het |
| Cdh12 |
A |
G |
15: 21,492,680 (GRCm39) |
Y233C |
probably damaging |
Het |
| Dchs2 |
G |
T |
3: 83,036,476 (GRCm39) |
V408F |
probably benign |
Het |
| Dnmt3c |
T |
A |
2: 153,561,950 (GRCm39) |
L551Q |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,578,365 (GRCm39) |
F746S |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,732,149 (GRCm39) |
R157C |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,344 (GRCm39) |
S58T |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,135,504 (GRCm39) |
V1809A |
probably damaging |
Het |
| Kif22 |
T |
A |
7: 126,630,225 (GRCm39) |
N437I |
probably benign |
Het |
| Klri1 |
A |
G |
6: 129,693,964 (GRCm39) |
V41A |
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,646 (GRCm39) |
D125E |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,828,448 (GRCm38) |
N90I |
possibly damaging |
Het |
| Nostrin |
G |
A |
2: 69,011,201 (GRCm39) |
A331T |
probably benign |
Het |
| Or4k2 |
T |
C |
14: 50,423,775 (GRCm39) |
K300E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,394 (GRCm39) |
Y260C |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,073 (GRCm39) |
T265A |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,333,960 (GRCm39) |
V223A |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Skic3 |
T |
A |
13: 76,298,638 (GRCm39) |
S1115T |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,765,300 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,314,496 (GRCm39) |
I772T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,797,954 (GRCm39) |
N1927S |
probably benign |
Het |
| Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
| Trbv15 |
A |
T |
6: 41,118,414 (GRCm39) |
T57S |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,886,826 (GRCm39) |
I146F |
probably damaging |
Het |
| Vmn2r39 |
T |
A |
7: 9,018,092 (GRCm39) |
Y748F |
probably damaging |
Het |
| Zfp493 |
T |
A |
13: 67,934,338 (GRCm39) |
V65D |
possibly 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 |
|
IGL02542:Ahsa2
|
APN |
11 |
23,440,559 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCATTGTAATCCTGTCTTCCAG -3'
(R):5'- CTACATCATTGGCGAAATGCTC -3'
Sequencing Primer
(F):5'- GCTTACATGCCAATATCCTTAGGAGC -3'
(R):5'- ATTGGCGAAATGCTCATCTGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation