Incidental Mutation 'R7579:Acsm4'
ID 586640
Institutional Source Beutler Lab
Gene Symbol Acsm4
Ensembl Gene ENSMUSG00000047026
Gene Name acyl-CoA synthetase medium-chain family member 4
Synonyms OMACS, O-MACS
MMRRC Submission 045633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7579 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 119289249-119313788 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119292933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 21 (R21L)
Ref Sequence ENSEMBL: ENSMUSP00000045160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047045]
AlphaFold Q80W40
Predicted Effect probably benign
Transcript: ENSMUST00000047045
AA Change: R21L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
AA Change: R21L

DomainStartEndE-ValueType
Pfam:AMP-binding 64 478 5.8e-83 PFAM
Pfam:AMP-binding_C 486 566 1.4e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (51/53)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T A 10: 10,286,562 (GRCm39) R120* probably null Het
Adgra3 C A 5: 50,144,977 (GRCm39) A539S probably benign Het
Ank2 A G 3: 126,740,047 (GRCm39) S1946P unknown Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdc20b A T 13: 113,173,582 (GRCm39) probably null Het
Cfh T G 1: 140,036,328 (GRCm39) D730A possibly damaging Het
Dennd1a T C 2: 37,748,444 (GRCm39) H345R probably damaging Het
Dhx36 T C 3: 62,388,294 (GRCm39) S614G possibly damaging Het
Dio1 C T 4: 107,149,583 (GRCm39) V240I possibly damaging Het
Dnah12 A G 14: 26,492,460 (GRCm39) D1200G probably benign Het
Dpy19l4 A T 4: 11,265,909 (GRCm39) S680T probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Fcrlb T C 1: 170,735,416 (GRCm39) probably null Het
Gad1 T A 2: 70,417,476 (GRCm39) I253K possibly damaging Het
Gars1 A G 6: 55,054,688 (GRCm39) D665G probably damaging Het
Gldn A G 9: 54,245,648 (GRCm39) T400A probably benign Het
Gm1110 C A 9: 26,795,122 (GRCm39) V455L possibly damaging Het
Gm11444 A G 11: 85,741,069 (GRCm39) V30A unknown Het
Gm5134 T C 10: 75,800,271 (GRCm39) S51P probably damaging Het
Gprc6a C T 10: 51,502,883 (GRCm39) A327T probably benign Het
Gstt2 A T 10: 75,670,019 (GRCm39) D34E probably benign Het
Icam2 A G 11: 106,271,589 (GRCm39) F78L probably damaging Het
Jakmip1 T G 5: 37,284,802 (GRCm39) C630G possibly damaging Het
Kcnu1 A T 8: 26,386,686 (GRCm39) N523I probably damaging Het
Klf10 A G 15: 38,297,282 (GRCm39) S253P probably benign Het
Mmd2 A T 5: 142,594,361 (GRCm39) M1K probably null Het
Mroh2b G T 15: 4,960,543 (GRCm39) G759C probably benign Het
Or10w3 T C 19: 13,704,465 (GRCm39) L280P probably damaging Het
Or2b7 A T 13: 21,740,176 (GRCm39) N5K probably benign Het
Or8k32 C T 2: 86,368,872 (GRCm39) C127Y probably damaging Het
Orc5 A G 5: 22,755,197 (GRCm39) F22S possibly damaging Het
Prlr A G 15: 10,329,021 (GRCm39) I499V probably benign Het
Ptbp1 A G 10: 79,694,954 (GRCm39) N94S probably benign Het
Rassf3 C A 10: 121,312,103 (GRCm39) probably benign Het
Rbm33 C T 5: 28,573,264 (GRCm39) P455S probably damaging Het
Sgcd C G 11: 47,016,481 (GRCm39) G127A possibly damaging Het
Slc22a13 A G 9: 119,024,226 (GRCm39) I336T possibly damaging Het
Slc25a31 A T 3: 40,679,471 (GRCm39) D312V possibly damaging Het
Slc37a4 G A 9: 44,312,818 (GRCm39) S324N probably benign Het
Slco1a5 A G 6: 142,221,207 (GRCm39) V13A probably benign Het
Srgap2 T C 1: 131,220,371 (GRCm39) H907R probably damaging Het
Supv3l1 A C 10: 62,271,487 (GRCm39) V381G probably damaging Het
Supv3l1 C A 10: 62,271,488 (GRCm39) V381L possibly damaging Het
Syne1 T C 10: 5,299,324 (GRCm39) D977G probably damaging Het
Syt3 T A 7: 44,040,272 (GRCm39) Y168* probably null Het
Tshz1 A T 18: 84,032,790 (GRCm39) Y539* probably null Het
Ttll13 A G 7: 79,907,981 (GRCm39) K501R probably benign Het
Ttn G A 2: 76,612,732 (GRCm39) Q17116* probably null Het
Vcan T C 13: 89,840,577 (GRCm39) T1656A probably damaging Het
Vmn1r73 G T 7: 11,491,082 (GRCm39) C300F probably benign Het
Vmn2r9 T C 5: 108,992,948 (GRCm39) K521E probably damaging Het
Zdhhc11 T A 13: 74,130,885 (GRCm39) probably benign Het
Zfp760 T C 17: 21,941,907 (GRCm39) S361P possibly damaging Het
Zranb2 A G 3: 157,246,309 (GRCm39) Y114C probably damaging Het
Other mutations in Acsm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01373:Acsm4 APN 7 119,310,642 (GRCm39) nonsense probably null
IGL01676:Acsm4 APN 7 119,307,866 (GRCm39) missense probably benign 0.00
IGL01801:Acsm4 APN 7 119,306,486 (GRCm39) missense possibly damaging 0.80
IGL02183:Acsm4 APN 7 119,293,075 (GRCm39) splice site probably null
IGL02220:Acsm4 APN 7 119,310,395 (GRCm39) missense probably damaging 1.00
IGL02637:Acsm4 APN 7 119,309,907 (GRCm39) missense probably damaging 1.00
IGL03290:Acsm4 APN 7 119,302,646 (GRCm39) splice site probably benign
I0000:Acsm4 UTSW 7 119,310,415 (GRCm39) missense probably damaging 1.00
PIT4382001:Acsm4 UTSW 7 119,297,798 (GRCm39) missense probably damaging 1.00
R1068:Acsm4 UTSW 7 119,307,933 (GRCm39) missense probably benign 0.00
R1386:Acsm4 UTSW 7 119,297,801 (GRCm39) missense probably benign
R1433:Acsm4 UTSW 7 119,293,042 (GRCm39) missense probably damaging 0.99
R1961:Acsm4 UTSW 7 119,307,963 (GRCm39) missense probably benign 0.04
R3957:Acsm4 UTSW 7 119,302,588 (GRCm39) missense possibly damaging 0.93
R4029:Acsm4 UTSW 7 119,293,008 (GRCm39) missense probably benign
R4072:Acsm4 UTSW 7 119,297,981 (GRCm39) missense probably benign 0.14
R4075:Acsm4 UTSW 7 119,297,981 (GRCm39) missense probably benign 0.14
R4076:Acsm4 UTSW 7 119,297,981 (GRCm39) missense probably benign 0.14
R4432:Acsm4 UTSW 7 119,310,610 (GRCm39) missense probably damaging 1.00
R4452:Acsm4 UTSW 7 119,297,797 (GRCm39) missense possibly damaging 0.92
R4757:Acsm4 UTSW 7 119,297,900 (GRCm39) missense probably benign
R4992:Acsm4 UTSW 7 119,310,640 (GRCm39) missense probably benign 0.43
R5046:Acsm4 UTSW 7 119,302,597 (GRCm39) missense probably damaging 0.99
R5473:Acsm4 UTSW 7 119,312,173 (GRCm39) missense probably damaging 1.00
R5662:Acsm4 UTSW 7 119,294,023 (GRCm39) missense possibly damaging 0.49
R5780:Acsm4 UTSW 7 119,293,068 (GRCm39) missense possibly damaging 0.66
R6957:Acsm4 UTSW 7 119,310,622 (GRCm39) missense probably damaging 1.00
R7892:Acsm4 UTSW 7 119,293,889 (GRCm39) missense possibly damaging 0.48
R8716:Acsm4 UTSW 7 119,307,883 (GRCm39) missense probably damaging 1.00
R8738:Acsm4 UTSW 7 119,304,264 (GRCm39) missense probably benign 0.00
R9616:Acsm4 UTSW 7 119,293,872 (GRCm39) missense probably benign 0.01
Z1177:Acsm4 UTSW 7 119,310,594 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGCGAGGATGGAGCGTTC -3'
(R):5'- TAAACTTGACAGGTAGAACACAGTG -3'

Sequencing Primer
(F):5'- ATGGAGCGTTCTTCAGGAATCCAC -3'
(R):5'- TAGAACACAGTGAGAGGACCTG -3'
Posted On 2019-10-24