Incidental Mutation 'IGL02499:Alas1'
| ID |
295964 |
| 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 # |
IGL02499
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106110654-106125153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106118520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 201
(Y201N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074082]
[ENSMUST00000112524]
[ENSMUST00000133617]
[ENSMUST00000141118]
[ENSMUST00000219129]
[ENSMUST00000215222]
[ENSMUST00000143125]
[ENSMUST00000214989]
|
| AlphaFold |
Q8VC19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074082
AA Change: Y201N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073725
Gene: ENSMUSG00000032786
AA Change: Y201N
| 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: Y201N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108143
Gene: ENSMUSG00000032786
AA Change: Y201N
| 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: Y201N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117014
Gene: ENSMUSG00000032786
AA Change: Y201N
| 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 |
noncoding transcript
Transcript: ENSMUST00000214249
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219129
AA Change: Y201N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215222
|
| 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: ENSMUST00000214989
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,776,807 (GRCm39) |
N835S |
possibly damaging |
Het |
| Abr |
A |
T |
11: 76,399,916 (GRCm39) |
F27Y |
probably benign |
Het |
| Adam5 |
C |
T |
8: 25,271,581 (GRCm39) |
|
probably null |
Het |
| Aldoart1 |
T |
A |
4: 72,770,476 (GRCm39) |
R111W |
possibly damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,021,460 (GRCm39) |
Y253H |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,090,291 (GRCm39) |
A1076E |
possibly damaging |
Het |
| Baz2b |
C |
T |
2: 59,731,840 (GRCm39) |
R2066K |
possibly damaging |
Het |
| Bdh1 |
G |
T |
16: 31,256,866 (GRCm39) |
R5L |
possibly damaging |
Het |
| Brap |
A |
G |
5: 121,817,934 (GRCm39) |
Y358C |
probably damaging |
Het |
| Cad |
T |
C |
5: 31,226,948 (GRCm39) |
V1235A |
probably damaging |
Het |
| Cadps |
G |
T |
14: 12,822,725 (GRCm38) |
S5* |
probably null |
Het |
| Cd200r2 |
A |
G |
16: 44,734,948 (GRCm39) |
T220A |
possibly damaging |
Het |
| Cd209e |
T |
A |
8: 3,904,238 (GRCm39) |
M6L |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,958 (GRCm39) |
T1265K |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,512,540 (GRCm39) |
S828P |
probably benign |
Het |
| Dao |
A |
G |
5: 114,152,002 (GRCm39) |
K107E |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
| Dvl1 |
T |
C |
4: 155,939,237 (GRCm39) |
I250T |
probably benign |
Het |
| Dzip3 |
A |
C |
16: 48,754,213 (GRCm39) |
L945V |
probably damaging |
Het |
| Gm128 |
A |
G |
3: 95,147,992 (GRCm39) |
S101P |
possibly damaging |
Het |
| Gphn |
T |
C |
12: 78,539,074 (GRCm39) |
L240P |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,965,647 (GRCm39) |
I393T |
probably benign |
Het |
| Iigp1c |
T |
C |
18: 60,378,710 (GRCm39) |
S82P |
probably damaging |
Het |
| Kat14 |
A |
G |
2: 144,235,751 (GRCm39) |
E161G |
probably benign |
Het |
| Kcne3 |
A |
C |
7: 99,833,610 (GRCm39) |
I76L |
probably benign |
Het |
| Kcnk18 |
A |
T |
19: 59,223,614 (GRCm39) |
Q253L |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,741,806 (GRCm39) |
|
probably benign |
Het |
| Lrrc73 |
A |
G |
17: 46,567,915 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,296,056 (GRCm39) |
S2993P |
possibly damaging |
Het |
| Mto1 |
T |
A |
9: 78,368,794 (GRCm39) |
|
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,722,669 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,467,342 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,566,885 (GRCm39) |
T587A |
probably benign |
Het |
| Nemf |
T |
A |
12: 69,368,903 (GRCm39) |
I771F |
probably damaging |
Het |
| Or10k2 |
T |
A |
8: 84,267,812 (GRCm39) |
V13D |
possibly damaging |
Het |
| Or5k16 |
A |
G |
16: 58,736,614 (GRCm39) |
L130P |
probably damaging |
Het |
| Or8c10 |
A |
T |
9: 38,278,977 (GRCm39) |
Y45F |
probably benign |
Het |
| Papln |
T |
C |
12: 83,827,445 (GRCm39) |
V761A |
probably benign |
Het |
| Pask |
A |
T |
1: 93,248,817 (GRCm39) |
L861* |
probably null |
Het |
| Pcdh18 |
T |
A |
3: 49,707,896 (GRCm39) |
R859S |
probably benign |
Het |
| Ppip5k1 |
C |
T |
2: 121,162,034 (GRCm39) |
|
probably null |
Het |
| Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
| Rasgrp4 |
A |
T |
7: 28,850,928 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,419,271 (GRCm39) |
I614V |
probably benign |
Het |
| Sec23ip |
T |
C |
7: 128,378,640 (GRCm39) |
I818T |
probably damaging |
Het |
| Skint11 |
G |
A |
4: 114,051,801 (GRCm39) |
A50T |
probably benign |
Het |
| Sqor |
T |
A |
2: 122,650,007 (GRCm39) |
M417K |
possibly damaging |
Het |
| Tbc1d24 |
T |
C |
17: 24,426,593 (GRCm39) |
|
probably null |
Het |
| Tbc1d8b |
A |
T |
X: 138,613,173 (GRCm39) |
D333V |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,739 (GRCm39) |
S679P |
possibly damaging |
Het |
| Thbs2 |
A |
G |
17: 14,904,328 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,689,795 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,493,568 (GRCm39) |
I126N |
probably damaging |
Het |
| Zbtb10 |
G |
T |
3: 9,316,800 (GRCm39) |
G204V |
probably damaging |
Het |
| Zfp426 |
A |
C |
9: 20,384,414 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
Incidental Mutation