Incidental Mutation 'R4386:Acsm3'
ID |
326230 |
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 |
041680-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4386 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119360106-119384119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 119373094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 199
(W199L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000106529]
|
AlphaFold |
Q3UNX5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063770
AA Change: W199L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068803 Gene: ENSMUSG00000030935 AA Change: W199L
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 damaging
Transcript: ENSMUST00000106526
AA Change: W199L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102136 Gene: ENSMUSG00000030935 AA Change: W199L
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: ENSMUST00000106527
AA Change: W199L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102137 Gene: ENSMUSG00000030935 AA Change: W199L
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: ENSMUST00000106528
AA Change: W199L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102138 Gene: ENSMUSG00000030935 AA Change: W199L
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: W199L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102139 Gene: ENSMUSG00000030935 AA Change: W199L
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: ENSMUST00000149598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149766
|
Meta Mutation Damage Score |
0.7464 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (48/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
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 |
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 |
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'- CTAGGGACAGTTTTAATTCCAGGAAC -3'
(R):5'- TTTTATCGCCAGCAGACCCC -3'
Sequencing Primer
(F):5'- GTTTTAATTCCAGGAACCACTCAGC -3'
(R):5'- AAGCTTGCACTGCCAACTGTTAG -3'
|
Posted On |
2015-07-06 |