Incidental Mutation 'R9283:Acsm3'
| ID |
703750 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119360106-119384119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119373115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 206
(M206K)
|
| 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 benign
Transcript: ENSMUST00000063770
AA Change: M206K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: M206K
| 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 benign
Transcript: ENSMUST00000106526
AA Change: M206K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: M206K
| 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: ENSMUST00000106527
AA Change: M206K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: M206K
| 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: ENSMUST00000106528
AA Change: M206K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: M206K
| 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: ENSMUST00000106529
AA Change: M206K
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: M206K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,499 (GRCm39) |
V47A |
probably benign |
Het |
| Aamdc |
A |
G |
7: 97,199,842 (GRCm39) |
V140A |
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,273,540 (GRCm39) |
T1073A |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,882,261 (GRCm39) |
I46V |
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,722,259 (GRCm39) |
S246G |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,516,211 (GRCm39) |
T251A |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,244,249 (GRCm39) |
L308P |
probably damaging |
Het |
| Daam1 |
G |
T |
12: 72,035,696 (GRCm39) |
G964C |
probably damaging |
Het |
| Ddx10 |
T |
G |
9: 53,146,656 (GRCm39) |
N189H |
probably benign |
Het |
| Dlg4 |
T |
A |
11: 69,922,617 (GRCm39) |
C241* |
probably null |
Het |
| Dpy19l1 |
G |
T |
9: 24,332,412 (GRCm39) |
Y489* |
probably null |
Het |
| E2f4 |
C |
A |
8: 106,024,395 (GRCm39) |
A8E |
probably benign |
Het |
| Gm3486 |
T |
C |
14: 41,210,268 (GRCm39) |
N71S |
possibly damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,225 (GRCm39) |
W66R |
probably damaging |
Het |
| Kcnh5 |
A |
G |
12: 75,023,307 (GRCm39) |
L587P |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,392,233 (GRCm39) |
Y274H |
possibly damaging |
Het |
| Kif16b |
T |
A |
2: 142,554,900 (GRCm39) |
M633L |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,852,651 (GRCm39) |
N21S |
probably benign |
Het |
| Lamtor3 |
C |
T |
3: 137,633,123 (GRCm39) |
R85C |
probably benign |
Het |
| Lin9 |
A |
T |
1: 180,493,493 (GRCm39) |
T240S |
probably damaging |
Het |
| Mtus1 |
C |
A |
8: 41,536,519 (GRCm39) |
G399V |
probably benign |
Het |
| Mup8 |
C |
T |
4: 60,221,903 (GRCm39) |
V77I |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,777,149 (GRCm39) |
A403V |
probably benign |
Het |
| Naf1 |
C |
A |
8: 67,313,503 (GRCm39) |
A162E |
unknown |
Het |
| Nat10 |
G |
A |
2: 103,556,092 (GRCm39) |
Q910* |
probably null |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,326,689 (GRCm39) |
K58R |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,001,058 (GRCm39) |
I192F |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Ophn1 |
G |
A |
X: 97,622,145 (GRCm39) |
T668M |
probably benign |
Het |
| Or10a3 |
C |
T |
7: 108,480,289 (GRCm39) |
A175T |
probably benign |
Het |
| Or2d4 |
G |
A |
7: 106,543,806 (GRCm39) |
T134I |
probably benign |
Het |
| Or5b105 |
C |
A |
19: 13,079,821 (GRCm39) |
M282I |
probably damaging |
Het |
| Or5b12b |
T |
A |
19: 12,861,961 (GRCm39) |
C239S |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,212,419 (GRCm39) |
K309E |
possibly damaging |
Het |
| Pcdh17 |
C |
T |
14: 84,685,593 (GRCm39) |
P687S |
possibly damaging |
Het |
| Pdpr |
C |
T |
8: 111,856,268 (GRCm39) |
R664W |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pfas |
A |
T |
11: 68,884,708 (GRCm39) |
V498E |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,220 (GRCm39) |
Y157F |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,157,637 (GRCm39) |
F2358I |
probably damaging |
Het |
| Pip5k1b |
T |
C |
19: 24,337,376 (GRCm39) |
Y304C |
probably damaging |
Het |
| Pls1 |
G |
A |
9: 95,655,642 (GRCm39) |
A370V |
probably benign |
Het |
| Polm |
A |
T |
11: 5,779,050 (GRCm39) |
L490H |
probably damaging |
Het |
| Prdm5 |
T |
C |
6: 65,858,060 (GRCm39) |
C375R |
probably damaging |
Het |
| Scmh1 |
A |
T |
4: 120,319,337 (GRCm39) |
M21L |
probably benign |
Het |
| Sec16a |
C |
A |
2: 26,313,904 (GRCm39) |
R449S |
|
Het |
| Sin3a |
C |
T |
9: 57,002,717 (GRCm39) |
T203I |
probably damaging |
Het |
| Six5 |
A |
G |
7: 18,829,148 (GRCm39) |
E196G |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,785,644 (GRCm39) |
V30A |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,511 (GRCm39) |
G122E |
probably damaging |
Het |
| Smim14 |
A |
G |
5: 65,625,780 (GRCm39) |
C11R |
probably damaging |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,630,174 (GRCm39) |
I718T |
probably damaging |
Het |
| Tead4 |
A |
G |
6: 128,205,592 (GRCm39) |
L370P |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,591,630 (GRCm39) |
K15E |
unknown |
Het |
| Trim55 |
T |
G |
3: 19,699,612 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
A |
T |
7: 63,873,623 (GRCm39) |
N510I |
probably benign |
Het |
| Trps1 |
A |
G |
15: 50,694,447 (GRCm39) |
V616A |
probably damaging |
Het |
| Usp42 |
A |
T |
5: 143,705,264 (GRCm39) |
V405E |
probably damaging |
Het |
| Zfp11 |
A |
T |
5: 129,734,748 (GRCm39) |
S238T |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,913 (GRCm39) |
H1009R |
possibly 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 |
|
|
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 |
|
|
R9483:Acsm3
|
UTSW |
7 |
119,383,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGGACAGTTTTAATTCCAGGAACC -3'
(R):5'- ATTTTATCGCCAGCAGACCC -3'
Sequencing Primer
(F):5'- GTTTTAATTCCAGGAACCACTCAGC -3'
(R):5'- CCTTCTCACCGAAAAGCTTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation