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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |