Incidental Mutation 'R7594:Acsm3'
| ID |
628209 |
| 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 |
045670-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7594 (G1)
|
| Quality Score |
207.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119360106-119384119 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 119384213 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 benign
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 benign
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 benign
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 benign
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 |
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Acvr2a |
T |
A |
2: 48,784,749 (GRCm39) |
L345* |
probably null |
Het |
| App |
T |
C |
16: 84,876,890 (GRCm39) |
D167G |
unknown |
Het |
| Arhgef33 |
A |
G |
17: 80,677,734 (GRCm39) |
D427G |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,288,875 (GRCm39) |
S1675P |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,808,935 (GRCm39) |
Y985C |
|
Het |
| AW209491 |
A |
G |
13: 14,811,831 (GRCm39) |
D228G |
probably benign |
Het |
| Casc3 |
G |
A |
11: 98,712,311 (GRCm39) |
A117T |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,271,568 (GRCm39) |
P645S |
probably benign |
Het |
| Ccar2 |
A |
T |
14: 70,379,243 (GRCm39) |
Y553* |
probably null |
Het |
| Cox16 |
A |
T |
12: 81,521,352 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
T |
19: 37,151,551 (GRCm39) |
V275E |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,316,905 (GRCm39) |
V634A |
probably benign |
Het |
| Dnajb1 |
G |
A |
8: 84,336,473 (GRCm39) |
S81N |
probably benign |
Het |
| Dst |
A |
G |
1: 34,252,094 (GRCm39) |
K2262E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,422,136 (GRCm39) |
V237A |
probably benign |
Het |
| Fbxo31 |
T |
A |
8: 122,279,107 (GRCm39) |
D460V |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,830,885 (GRCm39) |
C33R |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,632,443 (GRCm39) |
N168K |
possibly damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm10134 |
T |
C |
2: 28,396,372 (GRCm39) |
M89T |
unknown |
Het |
| Kif17 |
T |
C |
4: 138,005,236 (GRCm39) |
L267P |
probably damaging |
Het |
| Ksr2 |
C |
A |
5: 117,693,131 (GRCm39) |
T193N |
possibly damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,110,564 (GRCm39) |
L428P |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,696,359 (GRCm39) |
L1247F |
probably benign |
Het |
| Med24 |
T |
C |
11: 98,605,923 (GRCm39) |
Y323C |
probably damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,283,665 (GRCm39) |
V339A |
probably benign |
Het |
| Mtus2 |
G |
T |
5: 148,014,216 (GRCm39) |
R336S |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,556,358 (GRCm39) |
T3312A |
unknown |
Het |
| Nacad |
A |
G |
11: 6,552,457 (GRCm39) |
S245P |
probably damaging |
Het |
| Nacc1 |
T |
C |
8: 85,401,631 (GRCm39) |
D394G |
probably damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,365,268 (GRCm39) |
V582A |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,818,791 (GRCm39) |
D428E |
probably benign |
Het |
| Or10ag57 |
A |
G |
2: 87,218,613 (GRCm39) |
H188R |
probably damaging |
Het |
| Or4a80 |
T |
A |
2: 89,582,906 (GRCm39) |
T89S |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,880 (GRCm39) |
L3S |
probably benign |
Het |
| Osbpl5 |
A |
T |
7: 143,247,534 (GRCm39) |
L768Q |
probably benign |
Het |
| Plch2 |
C |
T |
4: 155,091,484 (GRCm39) |
V210I |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,123,277 (GRCm39) |
T1153I |
possibly damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,670 (GRCm39) |
S2P |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,286 (GRCm39) |
I69N |
probably damaging |
Het |
| Psmd5 |
G |
T |
2: 34,750,741 (GRCm39) |
H239Q |
probably benign |
Het |
| Ptcd2 |
C |
A |
13: 99,456,790 (GRCm39) |
A345S |
possibly damaging |
Het |
| Sap30l |
G |
A |
11: 57,700,947 (GRCm39) |
|
probably null |
Het |
| Sec14l2 |
A |
G |
11: 4,061,213 (GRCm39) |
Y83H |
probably damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,508,634 (GRCm39) |
I470T |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,165,190 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,601,432 (GRCm39) |
D1766E |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,511,473 (GRCm39) |
E259G |
probably benign |
Het |
| Tlr6 |
T |
C |
5: 65,110,594 (GRCm39) |
Y771C |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,508 (GRCm39) |
V670E |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,428,587 (GRCm38) |
T1522A |
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,694,595 (GRCm39) |
M158T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,557,186 (GRCm39) |
I29940V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,581,698 (GRCm39) |
T23065I |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,173,779 (GRCm39) |
S20G |
probably benign |
Het |
| Uts2r |
G |
T |
11: 121,052,191 (GRCm39) |
V352F |
possibly damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,342 (GRCm39) |
M202K |
possibly damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,580,635 (GRCm39) |
V524A |
probably benign |
Het |
| Zc3h12d |
C |
A |
10: 7,738,382 (GRCm39) |
D229E |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,311 (GRCm39) |
D116G |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,675,793 (GRCm39) |
E464G |
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 |
|
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'- TGTACCCAGGCATTTTCAAAAC -3'
(R):5'- CTTTATGCAGGAAAGATAGCAGTG -3'
Sequencing Primer
(F):5'- CCAGGCATTTTCAAAACATAACTG -3'
(R):5'- AAGATAGCAGTGGGGTTTACCTTAC -3'
|
| Posted On |
2020-02-10 |
Incidental Mutation