Incidental Mutation 'R4093:Alas1'
ID 317744
Institutional Source Beutler Lab
Gene Symbol Alas1
Ensembl Gene ENSMUSG00000032786
Gene Name aminolevulinic acid synthase 1
Synonyms succinyl-CoA: glycine C-succinyl transferase, Alas-1, ALAS-N, 5-aminolevulinate synthase
MMRRC Submission 041627-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4093 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106110654-106125153 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 106119000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074082] [ENSMUST00000112524] [ENSMUST00000133617] [ENSMUST00000141118] [ENSMUST00000219129] [ENSMUST00000143125] [ENSMUST00000215222] [ENSMUST00000214989]
AlphaFold Q8VC19
Predicted Effect probably null
Transcript: ENSMUST00000074082
SMART Domains Protein: ENSMUSP00000073725
Gene: ENSMUSG00000032786

DomainStartEndE-ValueType
Pfam:Preseq_ALAS 1 81 1.1e-21 PFAM
Pfam:Preseq_ALAS 73 141 2.8e-12 PFAM
Pfam:Aminotran_1_2 245 591 2.1e-77 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112524
SMART Domains Protein: ENSMUSP00000108143
Gene: ENSMUSG00000032786

DomainStartEndE-ValueType
Pfam:Preseq_ALAS 2 140 1.3e-49 PFAM
Pfam:Aminotran_1_2 245 592 5.3e-80 PFAM
Pfam:Cys_Met_Meta_PP 283 423 1.5e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123601
Predicted Effect probably benign
Transcript: ENSMUST00000133617
SMART Domains Protein: ENSMUSP00000122117
Gene: ENSMUSG00000032786

DomainStartEndE-ValueType
Pfam:Preseq_ALAS 1 79 3.1e-22 PFAM
Pfam:Preseq_ALAS 73 141 8.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134053
Predicted Effect probably null
Transcript: ENSMUST00000141118
SMART Domains Protein: ENSMUSP00000117014
Gene: ENSMUSG00000032786

DomainStartEndE-ValueType
Pfam:Preseq_ALAS 1 81 1.7e-20 PFAM
Pfam:Preseq_ALAS 73 141 4.2e-11 PFAM
Pfam:Aminotran_1_2 245 592 5.3e-80 PFAM
Pfam:Aminotran_5 257 422 3.4e-6 PFAM
Pfam:Cys_Met_Meta_PP 285 423 1.8e-6 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000219129
Predicted Effect probably benign
Transcript: ENSMUST00000143125
SMART Domains Protein: ENSMUSP00000119968
Gene: ENSMUSG00000032786

DomainStartEndE-ValueType
Pfam:Aminotran_5 1 61 7.7e-7 PFAM
Pfam:Aminotran_1_2 1 93 2.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219340
Predicted Effect probably benign
Transcript: ENSMUST00000214989
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 92% (69/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a reporter allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,093,996 (GRCm39) M2173V probably damaging Het
Angpt1 T C 15: 42,386,941 (GRCm39) T138A probably damaging Het
Atp2c2 G A 8: 120,476,610 (GRCm39) probably null Het
Cadm2 A G 16: 66,581,675 (GRCm39) V210A possibly damaging Het
Cfap70 A T 14: 20,459,181 (GRCm39) D671E probably damaging Het
Chd2 C T 7: 73,150,764 (GRCm39) E322K possibly damaging Het
Chrnd C T 1: 87,118,729 (GRCm39) Q29* probably null Het
Cip2a T C 16: 48,821,339 (GRCm39) probably benign Het
Cym A G 3: 107,121,582 (GRCm39) S237P probably benign Het
D030068K23Rik A G 8: 109,978,091 (GRCm39) noncoding transcript Het
Gsdma2 T A 11: 98,541,677 (GRCm39) S135T probably benign Het
Hc A T 2: 34,873,819 (GRCm39) Y158* probably null Het
Hoxb3 C A 11: 96,236,926 (GRCm39) H335N probably damaging Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Ighv1-19 G A 12: 114,672,350 (GRCm39) T90I probably damaging Het
Kansl3 C A 1: 36,384,035 (GRCm39) S729I probably damaging Het
Kcnab1 T C 3: 65,207,035 (GRCm39) I137T possibly damaging Het
Kcnt1 A T 2: 25,767,927 (GRCm39) E12V probably damaging Het
Klk15 A T 7: 43,588,204 (GRCm39) S171C possibly damaging Het
Lcn2 A T 2: 32,277,728 (GRCm39) M1K probably null Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp8 T A 4: 107,700,468 (GRCm39) C135* probably null Het
Lrrc31 C A 3: 30,749,671 (GRCm39) S54I probably damaging Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Med27 G A 2: 29,267,920 (GRCm39) probably benign Het
Mical1 T C 10: 41,362,933 (GRCm39) probably benign Het
Myt1 A T 2: 181,453,191 (GRCm39) M799L probably damaging Het
Nlrc4 T C 17: 74,752,953 (GRCm39) M477V probably benign Het
Npy4r T C 14: 33,869,098 (GRCm39) I63M probably benign Het
Or2t43 A T 11: 58,457,655 (GRCm39) I172N probably damaging Het
Or52e15 C T 7: 104,645,842 (GRCm39) G90S probably benign Het
Or8b1b T A 9: 38,375,379 (GRCm39) L14Q probably null Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Piezo1 A C 8: 123,227,899 (GRCm39) probably null Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Proser1 T C 3: 53,387,133 (GRCm39) probably null Het
Psme2 A T 14: 55,825,734 (GRCm39) N143K probably benign Het
Pygo2 C A 3: 89,340,571 (GRCm39) P323Q probably damaging Het
Rab11b T C 17: 33,968,763 (GRCm39) T77A possibly damaging Het
Recql5 A G 11: 115,795,714 (GRCm39) S190P probably benign Het
Serpina12 A G 12: 104,004,183 (GRCm39) F150L probably damaging Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a2 C T 17: 12,831,281 (GRCm39) T357M probably damaging Het
Spag6l A C 16: 16,646,888 (GRCm39) N39K probably benign Het
Srl A G 16: 4,315,316 (GRCm39) S109P possibly damaging Het
Tagap A T 17: 8,148,255 (GRCm39) H152L probably damaging Het
Tbx3 T A 5: 119,818,813 (GRCm39) S463T probably benign Het
Tcaf2 A G 6: 42,619,772 (GRCm39) L85P probably damaging Het
Tenm4 A T 7: 96,544,979 (GRCm39) S2332C probably damaging Het
Trim60 A T 8: 65,454,030 (GRCm39) M73K probably benign Het
Trpc1 T C 9: 95,588,918 (GRCm39) T769A probably benign Het
Tubgcp4 T A 2: 121,025,958 (GRCm39) L601Q probably benign Het
Unc5d T C 8: 29,334,865 (GRCm39) Y154C possibly damaging Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Vmn1r57 G T 7: 5,223,856 (GRCm39) S127I possibly damaging Het
Vmn1r62 T A 7: 5,678,943 (GRCm39) M208K probably damaging Het
Vmn2r110 T C 17: 20,803,642 (GRCm39) D311G possibly damaging Het
Vmn2r48 C A 7: 9,676,185 (GRCm39) S432I probably benign Het
Vmn2r48 T A 7: 9,676,186 (GRCm39) S432C probably damaging Het
Vmn2r71 T C 7: 85,270,442 (GRCm39) V536A probably benign Het
Vstm2a A G 11: 16,209,884 (GRCm39) T37A probably damaging Het
Wfs1 T C 5: 37,124,809 (GRCm39) H694R probably damaging Het
Zdbf2 T C 1: 63,348,940 (GRCm39) S2440P possibly damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null Het
Zfp64 T C 2: 168,767,855 (GRCm39) T586A probably benign Het
Zfp943 T A 17: 22,211,963 (GRCm39) C350S probably damaging Het
Other mutations in Alas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Alas1 APN 9 106,113,671 (GRCm39) missense probably benign 0.17
IGL02165:Alas1 APN 9 106,115,982 (GRCm39) missense probably damaging 1.00
IGL02355:Alas1 APN 9 106,113,838 (GRCm39) missense probably damaging 1.00
IGL02362:Alas1 APN 9 106,113,838 (GRCm39) missense probably damaging 1.00
IGL02499:Alas1 APN 9 106,118,520 (GRCm39) missense probably damaging 1.00
IGL02606:Alas1 APN 9 106,118,309 (GRCm39) unclassified probably benign
IGL03121:Alas1 APN 9 106,124,113 (GRCm39) missense probably damaging 0.99
R0115:Alas1 UTSW 9 106,115,451 (GRCm39) splice site probably null
R0294:Alas1 UTSW 9 106,118,455 (GRCm39) missense probably damaging 1.00
R0333:Alas1 UTSW 9 106,118,480 (GRCm39) missense probably benign 0.08
R0346:Alas1 UTSW 9 106,120,550 (GRCm39) missense possibly damaging 0.78
R1700:Alas1 UTSW 9 106,116,845 (GRCm39) missense possibly damaging 0.46
R1982:Alas1 UTSW 9 106,115,384 (GRCm39) missense probably damaging 1.00
R2056:Alas1 UTSW 9 106,118,489 (GRCm39) missense probably damaging 1.00
R2058:Alas1 UTSW 9 106,118,489 (GRCm39) missense probably damaging 1.00
R2059:Alas1 UTSW 9 106,118,489 (GRCm39) missense probably damaging 1.00
R2355:Alas1 UTSW 9 106,113,673 (GRCm39) missense probably damaging 0.96
R2516:Alas1 UTSW 9 106,115,859 (GRCm39) missense probably damaging 1.00
R3896:Alas1 UTSW 9 106,119,000 (GRCm39) splice site probably null
R4091:Alas1 UTSW 9 106,119,000 (GRCm39) splice site probably null
R4095:Alas1 UTSW 9 106,119,000 (GRCm39) splice site probably null
R4673:Alas1 UTSW 9 106,113,676 (GRCm39) missense probably damaging 1.00
R4948:Alas1 UTSW 9 106,124,077 (GRCm39) nonsense probably null
R5165:Alas1 UTSW 9 106,118,454 (GRCm39) missense probably damaging 1.00
R5215:Alas1 UTSW 9 106,120,574 (GRCm39) missense probably benign 0.05
R5420:Alas1 UTSW 9 106,111,358 (GRCm39) missense probably benign 0.13
R5993:Alas1 UTSW 9 106,111,328 (GRCm39) missense probably benign 0.11
R6033:Alas1 UTSW 9 106,118,403 (GRCm39) missense probably damaging 1.00
R6033:Alas1 UTSW 9 106,118,403 (GRCm39) missense probably damaging 1.00
R7489:Alas1 UTSW 9 106,118,833 (GRCm39) critical splice donor site probably null
R7726:Alas1 UTSW 9 106,124,150 (GRCm39) missense probably benign 0.00
R8012:Alas1 UTSW 9 106,123,962 (GRCm39) missense probably benign
R8036:Alas1 UTSW 9 106,112,721 (GRCm39) missense probably benign 0.19
R8353:Alas1 UTSW 9 106,113,721 (GRCm39) missense possibly damaging 0.83
R8453:Alas1 UTSW 9 106,113,721 (GRCm39) missense possibly damaging 0.83
R8928:Alas1 UTSW 9 106,118,513 (GRCm39) missense probably benign
R9015:Alas1 UTSW 9 106,113,670 (GRCm39) missense probably benign 0.17
R9259:Alas1 UTSW 9 106,118,835 (GRCm39) missense probably benign 0.01
R9475:Alas1 UTSW 9 106,111,261 (GRCm39) missense probably benign 0.08
R9516:Alas1 UTSW 9 106,115,840 (GRCm39) critical splice donor site probably null
R9797:Alas1 UTSW 9 106,113,842 (GRCm39) missense probably damaging 1.00
Z1176:Alas1 UTSW 9 106,120,566 (GRCm39) missense probably benign 0.00
Z1176:Alas1 UTSW 9 106,115,968 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- ACAGACTCACACTTTGGCAAG -3'
(R):5'- CATGAAGTAGGCAATGAGTTATGTG -3'

Sequencing Primer
(F):5'- CAGACTCACACTTTGGCAAGTTATC -3'
(R):5'- AGATTTAGAGATCTGCCTGACCCTG -3'
Posted On 2015-05-15