Incidental Mutation 'R7087:Acsm3'
ID |
549958 |
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 |
045181-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7087 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119360106-119384119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119373870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 252
(V252D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000106529]
|
AlphaFold |
Q3UNX5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063770
AA Change: V252D
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000068803 Gene: ENSMUSG00000030935 AA Change: V252D
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 |
possibly damaging
Transcript: ENSMUST00000106526
AA Change: V252D
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102136 Gene: ENSMUSG00000030935 AA Change: V252D
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 |
possibly damaging
Transcript: ENSMUST00000106527
AA Change: V252D
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102137 Gene: ENSMUSG00000030935 AA Change: V252D
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 |
possibly damaging
Transcript: ENSMUST00000106528
AA Change: V252D
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102138 Gene: ENSMUSG00000030935 AA Change: V252D
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 damaging
Transcript: ENSMUST00000106529
AA Change: V252D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102139 Gene: ENSMUSG00000030935 AA Change: V252D
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 |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (43/44) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
A |
G |
8: 13,271,856 (GRCm39) |
L1634P |
probably damaging |
Het |
Arhgef4 |
A |
T |
1: 34,850,767 (GRCm39) |
R438W |
probably damaging |
Het |
Asb3 |
A |
C |
11: 30,948,321 (GRCm39) |
K38T |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,074,269 (GRCm39) |
L328Q |
probably damaging |
Het |
BC030500 |
T |
A |
8: 59,365,388 (GRCm39) |
I13N |
unknown |
Het |
Cbarp |
A |
G |
10: 79,972,242 (GRCm39) |
S136P |
probably damaging |
Het |
Ccdc18 |
T |
A |
5: 108,343,988 (GRCm39) |
D910E |
probably benign |
Het |
Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,227,483 (GRCm39) |
V2535A |
probably benign |
Het |
Ddx39b |
C |
T |
17: 35,472,025 (GRCm39) |
R355C |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,543 (GRCm39) |
T338A |
probably benign |
Het |
Dpysl3 |
T |
C |
18: 43,496,595 (GRCm39) |
D147G |
probably damaging |
Het |
Eif3i |
G |
T |
4: 129,486,104 (GRCm39) |
H284Q |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,779,650 (GRCm39) |
L42Q |
probably null |
Het |
Exoc3l2 |
A |
G |
7: 19,203,582 (GRCm39) |
E58G |
|
Het |
Fgf18 |
C |
T |
11: 33,074,677 (GRCm39) |
R98Q |
probably damaging |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Gp2 |
T |
A |
7: 119,049,455 (GRCm39) |
T361S |
probably damaging |
Het |
Gtsf1 |
A |
T |
15: 103,333,876 (GRCm39) |
H33Q |
probably damaging |
Het |
Hoxa4 |
G |
A |
6: 52,168,271 (GRCm39) |
T133M |
probably damaging |
Het |
Hspb7 |
C |
A |
4: 141,149,866 (GRCm39) |
T84K |
possibly damaging |
Het |
Kcnq4 |
C |
T |
4: 120,561,596 (GRCm39) |
R491H |
probably damaging |
Het |
Kdm7a |
C |
T |
6: 39,152,315 (GRCm39) |
R127H |
probably benign |
Het |
Lsm10 |
C |
T |
4: 125,991,952 (GRCm39) |
R103C |
probably damaging |
Het |
Mgme1 |
T |
C |
2: 144,114,101 (GRCm39) |
S68P |
probably damaging |
Het |
Nes |
G |
T |
3: 87,887,065 (GRCm39) |
V1775L |
probably benign |
Het |
Nfrkb |
C |
T |
9: 31,331,228 (GRCm39) |
Q1250* |
probably null |
Het |
Or4s2 |
T |
C |
2: 88,473,197 (GRCm39) |
F29L |
probably damaging |
Het |
Phf21b |
A |
T |
15: 84,676,033 (GRCm39) |
L338H |
probably damaging |
Het |
Pira12 |
G |
A |
7: 3,900,218 (GRCm39) |
A128V |
probably benign |
Het |
Ppp2r5b |
A |
G |
19: 6,282,580 (GRCm39) |
V190A |
possibly damaging |
Het |
Prmt1 |
T |
C |
7: 44,631,007 (GRCm39) |
|
probably null |
Het |
Rusc1 |
A |
G |
3: 88,996,799 (GRCm39) |
V639A |
probably damaging |
Het |
Slc24a2 |
T |
A |
4: 86,909,456 (GRCm39) |
|
probably null |
Het |
Slc39a10 |
T |
C |
1: 46,874,880 (GRCm39) |
T141A |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,002,076 (GRCm39) |
M69L |
probably benign |
Het |
St8sia5 |
A |
C |
18: 77,342,238 (GRCm39) |
Q316P |
possibly damaging |
Het |
Svs3a |
T |
C |
2: 164,131,717 (GRCm39) |
I96T |
possibly damaging |
Het |
Syne1 |
T |
A |
10: 5,492,024 (GRCm39) |
|
probably benign |
Het |
Trappc3 |
T |
C |
4: 126,166,474 (GRCm39) |
S16P |
probably benign |
Het |
Vmn2r44 |
A |
T |
7: 8,381,366 (GRCm39) |
F176I |
probably benign |
Het |
Wnk1 |
C |
T |
6: 120,014,491 (GRCm39) |
E35K |
possibly damaging |
Het |
Zfp354c |
A |
G |
11: 50,706,040 (GRCm39) |
L345P |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,032,469 (GRCm39) |
K490N |
probably damaging |
Het |
Zfp687 |
A |
C |
3: 94,917,524 (GRCm39) |
S709A |
probably benign |
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 |
|
R6497:Acsm3
|
UTSW |
7 |
119,379,972 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
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'- TAGGTTTTCAAATCCTCCTCAGAG -3'
(R):5'- TTCCACATCACATCGGAGGC -3'
Sequencing Primer
(F):5'- GGTCATTCATTCATAAAAACACTGC -3'
(R):5'- TCGGAGGCTATCAAATCCAGC -3'
|
Posted On |
2019-05-15 |