Incidental Mutation 'R6497:Acsm3'
| ID |
523065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm3
|
| Ensembl Gene |
ENSMUSG00000030935 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 3 |
| Synonyms |
Sah, Sa |
| MMRRC Submission |
044629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6497 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119360106-119384119 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to A
at 119379972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033224]
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000106529]
[ENSMUST00000139192]
[ENSMUST00000150844]
|
| AlphaFold |
Q3UNX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033224
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000063770
|
| SMART Domains |
Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063902
|
| SMART Domains |
Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
transmembrane domain
|
245 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106523
|
| SMART Domains |
Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106526
|
| SMART Domains |
Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106527
|
| SMART Domains |
Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106528
|
| SMART Domains |
Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106529
|
| SMART Domains |
Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
1.1e-78 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
9.3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149766
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139192
|
| SMART Domains |
Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_T
|
21 |
160 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150844
|
| SMART Domains |
Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
low complexity region
|
362 |
381 |
N/A |
INTRINSIC |
|
Pfam:zf-GRF
|
592 |
640 |
1.4e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice are viable and fertile with normal kidney function and morphology and blood pressure similar to wild-type on either a regular or high salt diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
| Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
| Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,499 (GRCm39) |
I237K |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
| Cyp2c66 |
T |
A |
19: 39,151,821 (GRCm39) |
C179S |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
| Fut10 |
T |
A |
8: 31,726,278 (GRCm39) |
D344E |
probably damaging |
Het |
| Gad2 |
C |
T |
2: 22,558,269 (GRCm39) |
P329L |
probably damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,310,492 (GRCm39) |
F71L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
| Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
| Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
| Prr14 |
C |
T |
7: 127,073,750 (GRCm39) |
R205C |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
| Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
| Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
| Srrm4 |
A |
T |
5: 116,605,550 (GRCm39) |
S236T |
unknown |
Het |
| Srrt |
G |
T |
5: 137,295,768 (GRCm39) |
P193H |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,906,757 (GRCm39) |
M923K |
probably damaging |
Het |
|
| Other mutations in Acsm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Acsm3
|
APN |
7 |
119,383,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01434:Acsm3
|
APN |
7 |
119,380,297 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01446:Acsm3
|
APN |
7 |
119,377,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01800:Acsm3
|
APN |
7 |
119,373,866 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01882:Acsm3
|
APN |
7 |
119,373,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01954:Acsm3
|
APN |
7 |
119,374,306 (GRCm39) |
splice site |
probably benign |
|
|
PIT4677001:Acsm3
|
UTSW |
7 |
119,374,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4696001:Acsm3
|
UTSW |
7 |
119,384,209 (GRCm39) |
splice site |
probably null |
|
|
R0422:Acsm3
|
UTSW |
7 |
119,372,963 (GRCm39) |
nonsense |
probably null |
|
|
R0423:Acsm3
|
UTSW |
7 |
119,376,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Acsm3
|
UTSW |
7 |
119,383,207 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0731:Acsm3
|
UTSW |
7 |
119,367,247 (GRCm39) |
nonsense |
probably null |
|
|
R0732:Acsm3
|
UTSW |
7 |
119,373,057 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0744:Acsm3
|
UTSW |
7 |
119,376,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0836:Acsm3
|
UTSW |
7 |
119,376,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1926:Acsm3
|
UTSW |
7 |
119,376,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Acsm3
|
UTSW |
7 |
119,383,527 (GRCm39) |
missense |
probably benign |
|
|
R2429:Acsm3
|
UTSW |
7 |
119,367,223 (GRCm39) |
missense |
probably benign |
|
|
R3940:Acsm3
|
UTSW |
7 |
119,373,109 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4386:Acsm3
|
UTSW |
7 |
119,373,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Acsm3
|
UTSW |
7 |
119,377,720 (GRCm39) |
intron |
probably benign |
|
|
R5890:Acsm3
|
UTSW |
7 |
119,374,457 (GRCm39) |
missense |
probably benign |
|
|
R6278:Acsm3
|
UTSW |
7 |
119,373,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6350:Acsm3
|
UTSW |
7 |
119,367,256 (GRCm39) |
missense |
probably benign |
|
|
R6582:Acsm3
|
UTSW |
7 |
119,378,896 (GRCm39) |
missense |
probably benign |
|
|
R6670:Acsm3
|
UTSW |
7 |
119,379,978 (GRCm39) |
splice site |
probably null |
|
|
R6939:Acsm3
|
UTSW |
7 |
119,377,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Acsm3
|
UTSW |
7 |
119,367,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7087:Acsm3
|
UTSW |
7 |
119,373,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7301:Acsm3
|
UTSW |
7 |
119,376,308 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7381:Acsm3
|
UTSW |
7 |
119,380,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7396:Acsm3
|
UTSW |
7 |
119,373,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7594:Acsm3
|
UTSW |
7 |
119,384,213 (GRCm39) |
splice site |
probably null |
|
|
R8676:Acsm3
|
UTSW |
7 |
119,374,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9026:Acsm3
|
UTSW |
7 |
119,373,845 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9221:Acsm3
|
UTSW |
7 |
119,368,131 (GRCm39) |
nonsense |
probably null |
|
|
R9283:Acsm3
|
UTSW |
7 |
119,373,115 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9483:Acsm3
|
UTSW |
7 |
119,383,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTCTCCAGAAGTTGCGCC -3'
(R):5'- GGTTGAGCTATAGAGTCACCC -3'
Sequencing Primer
(F):5'- CCAGAAGTTGCGCCAAGTCTTTG -3'
(R):5'- GTCACCCCAGAATGCTTGATAAGTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation