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)
|
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
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 null
Transcript: ENSMUST00000112524
|
SMART Domains |
Protein: ENSMUSP00000108143 Gene: ENSMUSG00000032786
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 null
Transcript: ENSMUST00000141118
|
SMART Domains |
Protein: ENSMUSP00000117014 Gene: ENSMUSG00000032786
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 null
Transcript: ENSMUST00000219129
|
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: 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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |