Incidental Mutation 'R3896:Alas1'
ID 310550
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 040807-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3896 (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: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A T 3: 146,356,868 (GRCm39) N13K possibly damaging Het
Arhgap20 A T 9: 51,728,137 (GRCm39) I117F probably damaging Het
Asz1 A G 6: 18,075,766 (GRCm39) I269T probably benign Het
Atp8a2 C A 14: 60,263,589 (GRCm39) probably null Het
Atp8b2 A T 3: 89,864,626 (GRCm39) I163K probably damaging Het
Casd1 T A 6: 4,640,980 (GRCm39) F700L probably damaging Het
Ccdc80 A G 16: 44,916,984 (GRCm39) D580G probably benign Het
Cog7 C T 7: 121,540,392 (GRCm39) probably benign Het
Cyp2c66 T C 19: 39,130,722 (GRCm39) V112A possibly damaging Het
D130040H23Rik T A 8: 69,755,610 (GRCm39) C356S probably damaging Het
Emb A G 13: 117,409,598 (GRCm39) *331W probably null Het
Enpp3 A C 10: 24,653,847 (GRCm39) S703R possibly damaging Het
Fam13b T C 18: 34,596,008 (GRCm39) probably benign Het
Foxp1 T A 6: 99,052,897 (GRCm39) Q97L probably benign Het
Gdf10 A T 14: 33,656,438 (GRCm39) N467Y probably damaging Het
Gm29394 C T 15: 57,912,024 (GRCm39) probably benign Het
Gsn T C 2: 35,192,650 (GRCm39) S522P possibly damaging Het
Hydin T A 8: 111,235,711 (GRCm39) F1899I possibly damaging Het
Ints1 C A 5: 139,743,399 (GRCm39) E1658* probably null Het
Jakmip2 A T 18: 43,682,751 (GRCm39) F691Y probably benign Het
Klhl28 A G 12: 65,004,333 (GRCm39) F60S probably damaging Het
Loxhd1 C T 18: 77,469,719 (GRCm39) S992L possibly damaging Het
Lrp1b A T 2: 40,812,440 (GRCm39) probably null Het
Macf1 A T 4: 123,364,987 (GRCm39) I3258N possibly damaging Het
Map4k2 G T 19: 6,391,958 (GRCm39) E91* probably null Het
Matcap1 T A 8: 106,009,920 (GRCm39) H343L probably benign Het
Myo1b A T 1: 51,812,420 (GRCm39) V739E probably damaging Het
Naa35 C T 13: 59,755,109 (GRCm39) T185I probably damaging Het
Or10v9 T C 19: 11,832,951 (GRCm39) D122G probably damaging Het
Or4c15b A G 2: 89,113,441 (GRCm39) F33S possibly damaging Het
Reg4 A T 3: 98,132,082 (GRCm39) probably benign Het
Rnaseh2b A C 14: 62,597,906 (GRCm39) probably benign Het
Rnf123 G A 9: 107,946,302 (GRCm39) probably benign Het
Scn8a A T 15: 100,933,379 (GRCm39) M1528L probably benign Het
Sdr16c5 T A 4: 4,006,609 (GRCm39) T228S probably damaging Het
Sgo2a T C 1: 58,052,805 (GRCm39) C202R probably damaging Het
Slc25a46 A G 18: 31,716,725 (GRCm39) L259P probably damaging Het
Slc4a4 A G 5: 89,345,625 (GRCm39) probably benign Het
Sox14 G T 9: 99,757,636 (GRCm39) H34Q probably damaging Het
Syna T A 5: 134,587,165 (GRCm39) K595* probably null Het
Taf4 A G 2: 179,573,807 (GRCm39) V687A probably benign Het
Tmbim7 C T 5: 3,711,916 (GRCm39) H54Y probably benign Het
Vmn1r212 T C 13: 23,068,067 (GRCm39) M89V probably benign Het
Vmn1r86 T C 7: 12,836,093 (GRCm39) Y261C probably benign Het
Xkr4 A G 1: 3,286,414 (GRCm39) I592T probably damaging Het
Ywhah A G 5: 33,184,349 (GRCm39) Y184C probably damaging Het
Zkscan16 C T 4: 58,946,125 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- ACAGACTCACACTTTGGCAAG -3'
(R):5'- CATGAAGTAGGCAATGAGTTATGTG -3'

Sequencing Primer
(F):5'- CAGACTCACACTTTGGCAAGTTATC -3'
(R):5'- AGATTTAGAGATCTGCCTGACCCTG -3'
Posted On 2015-04-17