Incidental Mutation 'IGL02355:Alas1'
ID 289659
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02355
Quality Score
Status
Chromosome 9
Chromosomal Location 106110654-106125153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106113838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 469 (Y469C)
Ref Sequence ENSEMBL: ENSMUSP00000117014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074082] [ENSMUST00000112524] [ENSMUST00000133617] [ENSMUST00000141118] [ENSMUST00000214989] [ENSMUST00000143125] [ENSMUST00000219129]
AlphaFold Q8VC19
Predicted Effect probably damaging
Transcript: ENSMUST00000074082
AA Change: Y468C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073725
Gene: ENSMUSG00000032786
AA Change: Y468C

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 damaging
Transcript: ENSMUST00000112524
AA Change: Y469C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108143
Gene: ENSMUSG00000032786
AA Change: Y469C

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 damaging
Transcript: ENSMUST00000141118
AA Change: Y469C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117014
Gene: ENSMUSG00000032786
AA Change: Y469C

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 damaging
Transcript: ENSMUST00000214989
AA Change: Y63C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: ENSMUST00000219129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219340
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 C A 8: 25,187,207 (GRCm39) C428F probably damaging Het
Asxl1 C T 2: 153,243,706 (GRCm39) L1419F probably benign Het
Bcan C T 3: 87,901,449 (GRCm39) D418N possibly damaging Het
Cdc42bpg A G 19: 6,360,839 (GRCm39) D199G possibly damaging Het
Chst15 T C 7: 131,868,401 (GRCm39) N340D probably benign Het
Col12a1 T G 9: 79,537,993 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,631,849 (GRCm39) H116L probably benign Het
Cyp2c67 G A 19: 39,605,826 (GRCm39) R357* probably null Het
Ears2 T C 7: 121,643,773 (GRCm39) D395G probably benign Het
Fam227a A T 15: 79,528,139 (GRCm39) probably benign Het
Fap A G 2: 62,403,842 (GRCm39) V11A probably benign Het
Ganc A G 2: 120,264,238 (GRCm39) D397G probably damaging Het
Gjb6 C A 14: 57,361,752 (GRCm39) G170C possibly damaging Het
Gria2 A T 3: 80,614,244 (GRCm39) W599R probably damaging Het
Gvin-ps5 T C 7: 105,929,480 (GRCm39) noncoding transcript Het
Ighv1-64 A G 12: 115,471,236 (GRCm39) S94P probably benign Het
Kifc3 C T 8: 95,836,507 (GRCm39) A85T probably damaging Het
Lifr G A 15: 7,194,174 (GRCm39) probably null Het
Lonp2 T G 8: 87,350,874 (GRCm39) S21R probably benign Het
Nxpe3 A G 16: 55,710,949 (GRCm39) V30A probably benign Het
Olfml1 T C 7: 107,167,010 (GRCm39) V13A probably benign Het
Or10w1 T C 19: 13,632,597 (GRCm39) V268A probably benign Het
Or1af1 A G 2: 37,109,681 (GRCm39) Y60C probably damaging Het
Pcnt G A 10: 76,210,996 (GRCm39) Q2376* probably null Het
Pglyrp2 A G 17: 32,635,996 (GRCm39) L380P probably damaging Het
Plin3 A G 17: 56,593,636 (GRCm39) V26A probably benign Het
Potefam1 T C 2: 111,041,996 (GRCm39) probably benign Het
Pramel25 A G 4: 143,519,580 (GRCm39) S114G probably damaging Het
Rims1 A G 1: 22,522,288 (GRCm39) I470T probably damaging Het
Rora T C 9: 69,281,374 (GRCm39) Y329H probably damaging Het
Scnn1b G A 7: 121,516,770 (GRCm39) R503H probably damaging Het
Sec14l1 A G 11: 117,035,675 (GRCm39) D237G possibly damaging Het
Selplg A G 5: 113,957,467 (GRCm39) S280P probably benign Het
Serpina12 A G 12: 104,004,140 (GRCm39) L164P probably benign Het
Sik2 C T 9: 50,828,903 (GRCm39) W176* probably null Het
Slc2a1 T C 4: 118,993,612 (GRCm39) F483S possibly damaging Het
Speg A G 1: 75,400,559 (GRCm39) D2573G possibly damaging Het
Stil C T 4: 114,867,308 (GRCm39) S239L probably damaging Het
Tmem94 C A 11: 115,685,571 (GRCm39) S941R probably damaging Het
Tnfrsf11b T A 15: 54,115,778 (GRCm39) D273V probably damaging Het
Tns2 A G 15: 102,020,725 (GRCm39) T864A probably benign Het
Zfpm2 A G 15: 40,962,890 (GRCm39) H184R 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
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
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
Posted On 2015-04-16