Incidental Mutation 'R7489:Alas1'
ID 580421
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 045563-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7489 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 106110654-106125153 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 106118833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074082] [ENSMUST00000112524] [ENSMUST00000133617] [ENSMUST00000141118] [ENSMUST00000143125] [ENSMUST00000214989] [ENSMUST00000215222] [ENSMUST00000219129]
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 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 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 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: ENSMUST00000214989
Predicted Effect probably benign
Transcript: ENSMUST00000215222
Predicted Effect probably null
Transcript: ENSMUST00000219129
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A T 16: 88,424,122 (GRCm39) V123D probably damaging Het
4930503E14Rik A T 14: 44,407,756 (GRCm39) N92K probably damaging Het
4930519G04Rik T C 5: 115,017,686 (GRCm39) S166P unknown Het
Abtb3 T A 10: 85,463,079 (GRCm39) Y615N probably damaging Het
Adgrb3 G A 1: 25,586,586 (GRCm39) T369I probably damaging Het
Agbl4 T C 4: 111,383,855 (GRCm39) S237P probably damaging Het
Ahi1 T C 10: 20,839,649 (GRCm39) C187R probably benign Het
Akap9 C T 5: 4,054,933 (GRCm39) T1626M probably damaging Het
Apbb1 G T 7: 105,216,687 (GRCm39) T301N probably benign Het
Arhgap42 A G 9: 9,006,359 (GRCm39) V679A probably benign Het
Atp2a2 T C 5: 122,605,830 (GRCm39) D375G probably benign Het
Best1 A G 19: 9,974,410 (GRCm39) S45P possibly damaging Het
Bpifb4 A C 2: 153,785,924 (GRCm39) T21P probably damaging Het
Cdx2 A T 5: 147,243,482 (GRCm39) M104K probably benign Het
Ces1d A T 8: 93,904,759 (GRCm39) L327Q probably damaging Het
Ces2e A G 8: 105,656,412 (GRCm39) H214R probably benign Het
Chd5 G A 4: 152,457,925 (GRCm39) G1014D probably damaging Het
Cmya5 T A 13: 93,228,346 (GRCm39) K2247N possibly damaging Het
Dip2c T C 13: 9,583,348 (GRCm39) V110A probably damaging Het
Fancd2 T C 6: 113,541,265 (GRCm39) S724P probably benign Het
Galnt1 T A 18: 24,415,214 (GRCm39) V485D probably damaging Het
Garin3 G C 11: 46,298,268 (GRCm39) G524A Het
Gli2 A G 1: 118,765,905 (GRCm39) S749P probably benign Het
H2-M5 A C 17: 37,300,363 (GRCm39) L12V unknown Het
Iqcf6 C A 9: 106,504,656 (GRCm39) Q107K probably benign Het
Itfg1 C T 8: 86,493,630 (GRCm39) C283Y probably damaging Het
Jak3 A C 8: 72,136,936 (GRCm39) K704T probably damaging Het
Kl A T 5: 150,876,461 (GRCm39) T94S probably damaging Het
Krt73 A C 15: 101,702,294 (GRCm39) V523G probably benign Het
Lap3 T C 5: 45,657,848 (GRCm39) F215L probably damaging Het
Lce1c G A 3: 92,587,954 (GRCm39) C127Y unknown Het
Map6 C T 7: 98,917,268 (GRCm39) R14C probably damaging Het
Mcm10 T A 2: 5,006,112 (GRCm39) K410M probably damaging Het
Med23 T A 10: 24,780,254 (GRCm39) N967K probably damaging Het
Mmp8 A T 9: 7,561,388 (GRCm39) T131S probably benign Het
Ms4a14 T C 19: 11,279,395 (GRCm39) I1054M probably benign Het
Mup14 A G 4: 61,259,887 (GRCm39) M1T probably null Het
Myzap T A 9: 71,468,320 (GRCm39) T110S probably benign Het
Nmrk1 A T 19: 18,619,606 (GRCm39) K153M probably damaging Het
Nmrk1 G T 19: 18,619,607 (GRCm39) K153N possibly damaging Het
Or4x12-ps1 T A 2: 89,916,704 (GRCm39) M34L probably benign Het
Or6c70 A T 10: 129,710,551 (GRCm39) I25N probably damaging Het
Pcdh12 T C 18: 38,414,842 (GRCm39) H761R possibly damaging Het
Pde4d C A 13: 109,253,301 (GRCm39) L43I unknown Het
Prrc2a A T 17: 35,381,330 (GRCm39) S46R unknown Het
Rab19 A G 6: 39,365,039 (GRCm39) T100A probably benign Het
Rad51b C T 12: 79,347,359 (GRCm39) R8* probably null Het
Sclt1 A T 3: 41,584,032 (GRCm39) L642Q probably damaging Het
Scyl3 T C 1: 163,776,745 (GRCm39) I392T possibly damaging Het
Sipa1l3 A G 7: 29,066,127 (GRCm39) W1076R probably damaging Het
Slc12a9 C A 5: 137,321,082 (GRCm39) A478S probably damaging Het
Slc5a9 C A 4: 111,741,113 (GRCm39) C511F probably damaging Het
Sspo T C 6: 48,450,647 (GRCm39) L2612P probably damaging Het
Synrg C T 11: 83,881,651 (GRCm39) T329I probably benign Het
Tdrd9 A G 12: 112,034,071 (GRCm39) T1338A probably benign Het
Tenm4 A T 7: 96,486,521 (GRCm39) D996V possibly damaging Het
Ticam2 T A 18: 46,693,584 (GRCm39) I168L probably damaging Het
Tom1l1 T C 11: 90,547,185 (GRCm39) I374M probably benign Het
Trip10 A T 17: 57,557,966 (GRCm39) K51I probably damaging Het
Trpc6 T A 9: 8,656,545 (GRCm39) D735E probably benign Het
Trpm8 T A 1: 88,307,481 (GRCm39) N1050K possibly damaging Het
Tuba8 A T 6: 121,202,980 (GRCm39) D431V probably damaging Het
Ucn2 C T 9: 108,815,322 (GRCm39) T28I possibly damaging Het
Vmn1r21 C T 6: 57,820,877 (GRCm39) G189D probably damaging Het
Vmn2r8 T C 5: 108,945,522 (GRCm39) N695S possibly damaging Het
Xirp2 A C 2: 67,355,904 (GRCm39) N3555T possibly damaging Het
Zfp119a A T 17: 56,173,158 (GRCm39) H228Q probably damaging Het
Zfr T A 15: 12,153,068 (GRCm39) H566Q probably benign 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
R4093: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
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'- AGGGCACTGTATCCAGGACTAG -3'
(R):5'- CTGAACTAAGAGTAAAAGGTCTGTC -3'

Sequencing Primer
(F):5'- CACTGTATCCAGGACTAGAATGTGTG -3'
(R):5'- AGGTCTGTCCTCAGTACCTC -3'
Posted On 2019-10-07