Incidental Mutation 'R8676:Acsm3'
| ID |
661387 |
| 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 |
068531-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8676 (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 119374392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 281
(S281R)
|
| 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: S281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: S281R
| 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: S281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: S281R
| 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: S281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: S281R
| 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: S281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: S281R
| 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: S281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: S281R
| 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 |
0.3241 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
93% (54/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
G |
A |
4: 144,396,683 (GRCm39) |
R350C |
possibly damaging |
Het |
| Adipor2 |
G |
T |
6: 119,340,447 (GRCm39) |
|
probably benign |
Het |
| Alk |
T |
C |
17: 72,204,936 (GRCm39) |
S1079G |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,302,009 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
C |
A |
11: 54,892,108 (GRCm39) |
E283* |
probably null |
Het |
| Bnc2 |
T |
C |
4: 84,194,550 (GRCm39) |
H858R |
possibly damaging |
Het |
| Btnl6 |
T |
C |
17: 34,727,043 (GRCm39) |
S496G |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,410,860 (GRCm39) |
S449P |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,246,689 (GRCm39) |
D916E |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,736,456 (GRCm39) |
L1345H |
possibly damaging |
Het |
| Cyld |
A |
T |
8: 89,456,138 (GRCm39) |
H396L |
probably benign |
Het |
| Cyp20a1 |
A |
G |
1: 60,418,579 (GRCm39) |
T340A |
possibly damaging |
Het |
| Czib |
A |
G |
4: 107,752,796 (GRCm39) |
N152D |
unknown |
Het |
| Dera |
A |
T |
6: 137,807,202 (GRCm39) |
I217F |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,154,539 (GRCm39) |
L247P |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,759,447 (GRCm39) |
T152M |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,965,858 (GRCm39) |
K214E |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,319,674 (GRCm39) |
T169M |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,845,023 (GRCm39) |
D407G |
unknown |
Het |
| Gli3 |
T |
A |
13: 15,889,619 (GRCm39) |
C578S |
probably damaging |
Het |
| Gm6408 |
A |
G |
5: 146,419,237 (GRCm39) |
N84S |
probably benign |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,838,361 (GRCm39) |
T3296K |
probably damaging |
Het |
| Hnf4g |
A |
T |
3: 3,708,133 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
C |
A |
6: 24,755,826 (GRCm39) |
Q15K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,943,908 (GRCm39) |
E57G |
probably damaging |
Het |
| Kcnc3 |
C |
A |
7: 44,241,020 (GRCm39) |
D237E |
probably benign |
Het |
| Map3k8 |
A |
G |
18: 4,343,137 (GRCm39) |
V130A |
probably benign |
Het |
| Mpp7 |
A |
G |
18: 7,440,430 (GRCm39) |
|
probably null |
Het |
| Mtres1 |
A |
G |
10: 43,408,933 (GRCm39) |
L70S |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,233,311 (GRCm39) |
L610Q |
probably damaging |
Het |
| Or13p5 |
C |
A |
4: 118,592,235 (GRCm39) |
P170T |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,246 (GRCm39) |
M150K |
probably benign |
Het |
| Or8b52 |
T |
C |
9: 38,577,064 (GRCm39) |
I25M |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,129 (GRCm39) |
T170S |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,516,251 (GRCm39) |
H626Q |
probably benign |
Het |
| Prkg1 |
A |
T |
19: 31,742,146 (GRCm39) |
L26Q |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,039 (GRCm39) |
N405S |
possibly damaging |
Het |
| Proz |
T |
G |
8: 13,123,630 (GRCm39) |
S300R |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,527,990 (GRCm39) |
I251T |
probably benign |
Het |
| Rcbtb1 |
T |
C |
14: 59,467,401 (GRCm39) |
I413T |
possibly damaging |
Het |
| Rnf144b |
T |
A |
13: 47,382,452 (GRCm39) |
Y103N |
probably damaging |
Het |
| Rspry1 |
G |
C |
8: 95,358,747 (GRCm39) |
G194R |
probably benign |
Het |
| Scn2b |
A |
G |
9: 45,036,917 (GRCm39) |
I142V |
probably damaging |
Het |
| Spata20 |
A |
T |
11: 94,372,607 (GRCm39) |
L588H |
probably damaging |
Het |
| Stk32b |
T |
A |
5: 37,614,503 (GRCm39) |
H335L |
probably benign |
Het |
| Taar4 |
A |
C |
10: 23,836,801 (GRCm39) |
D137A |
possibly damaging |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
T |
4: 94,738,074 (GRCm39) |
H708L |
probably benign |
Het |
| Tmem89 |
C |
T |
9: 108,744,095 (GRCm39) |
L132F |
unknown |
Het |
| Ugt2b38 |
T |
C |
5: 87,559,681 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn1r16 |
C |
T |
6: 57,299,814 (GRCm39) |
M269I |
probably benign |
Het |
| Vmn1r201 |
A |
G |
13: 22,659,422 (GRCm39) |
K212R |
probably damaging |
Het |
| Vmn2r11 |
A |
C |
5: 109,201,626 (GRCm39) |
F293V |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,798,240 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
C |
A |
8: 88,509,338 (GRCm39) |
M335I |
probably benign |
Het |
| Zfp74 |
T |
C |
7: 29,634,079 (GRCm39) |
Y543C |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,264 (GRCm39) |
S116R |
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 |
|
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 |
|
|
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'- AGGTATTTTCCCAGAACTGAGG -3'
(R):5'- GACATCTGAAAACTCCCAATCTCTG -3'
Sequencing Primer
(F):5'- TTCAATGCCCCAGTGTAGGAATG -3'
(R):5'- TGAAAACTCCCAATCTCTGTTTAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation