Incidental Mutation 'R7489:Alas1'
ID |
580421 |
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 |
045563-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7489 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
106110654-106125153 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 106118833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074082]
[ENSMUST00000112524]
[ENSMUST00000133617]
[ENSMUST00000141118]
[ENSMUST00000143125]
[ENSMUST00000214989]
[ENSMUST00000215222]
[ENSMUST00000219129]
|
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 |
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 |
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 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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215222
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219129
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
A |
T |
16: 88,424,122 (GRCm39) |
V123D |
probably damaging |
Het |
4930503E14Rik |
A |
T |
14: 44,407,756 (GRCm39) |
N92K |
probably damaging |
Het |
4930519G04Rik |
T |
C |
5: 115,017,686 (GRCm39) |
S166P |
unknown |
Het |
Abtb3 |
T |
A |
10: 85,463,079 (GRCm39) |
Y615N |
probably damaging |
Het |
Adgrb3 |
G |
A |
1: 25,586,586 (GRCm39) |
T369I |
probably damaging |
Het |
Agbl4 |
T |
C |
4: 111,383,855 (GRCm39) |
S237P |
probably damaging |
Het |
Ahi1 |
T |
C |
10: 20,839,649 (GRCm39) |
C187R |
probably benign |
Het |
Akap9 |
C |
T |
5: 4,054,933 (GRCm39) |
T1626M |
probably damaging |
Het |
Apbb1 |
G |
T |
7: 105,216,687 (GRCm39) |
T301N |
probably benign |
Het |
Arhgap42 |
A |
G |
9: 9,006,359 (GRCm39) |
V679A |
probably benign |
Het |
Atp2a2 |
T |
C |
5: 122,605,830 (GRCm39) |
D375G |
probably benign |
Het |
Best1 |
A |
G |
19: 9,974,410 (GRCm39) |
S45P |
possibly damaging |
Het |
Bpifb4 |
A |
C |
2: 153,785,924 (GRCm39) |
T21P |
probably damaging |
Het |
Cdx2 |
A |
T |
5: 147,243,482 (GRCm39) |
M104K |
probably benign |
Het |
Ces1d |
A |
T |
8: 93,904,759 (GRCm39) |
L327Q |
probably damaging |
Het |
Ces2e |
A |
G |
8: 105,656,412 (GRCm39) |
H214R |
probably benign |
Het |
Chd5 |
G |
A |
4: 152,457,925 (GRCm39) |
G1014D |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,228,346 (GRCm39) |
K2247N |
possibly damaging |
Het |
Dip2c |
T |
C |
13: 9,583,348 (GRCm39) |
V110A |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,541,265 (GRCm39) |
S724P |
probably benign |
Het |
Galnt1 |
T |
A |
18: 24,415,214 (GRCm39) |
V485D |
probably damaging |
Het |
Garin3 |
G |
C |
11: 46,298,268 (GRCm39) |
G524A |
|
Het |
Gli2 |
A |
G |
1: 118,765,905 (GRCm39) |
S749P |
probably benign |
Het |
H2-M5 |
A |
C |
17: 37,300,363 (GRCm39) |
L12V |
unknown |
Het |
Iqcf6 |
C |
A |
9: 106,504,656 (GRCm39) |
Q107K |
probably benign |
Het |
Itfg1 |
C |
T |
8: 86,493,630 (GRCm39) |
C283Y |
probably damaging |
Het |
Jak3 |
A |
C |
8: 72,136,936 (GRCm39) |
K704T |
probably damaging |
Het |
Kl |
A |
T |
5: 150,876,461 (GRCm39) |
T94S |
probably damaging |
Het |
Krt73 |
A |
C |
15: 101,702,294 (GRCm39) |
V523G |
probably benign |
Het |
Lap3 |
T |
C |
5: 45,657,848 (GRCm39) |
F215L |
probably damaging |
Het |
Lce1c |
G |
A |
3: 92,587,954 (GRCm39) |
C127Y |
unknown |
Het |
Map6 |
C |
T |
7: 98,917,268 (GRCm39) |
R14C |
probably damaging |
Het |
Mcm10 |
T |
A |
2: 5,006,112 (GRCm39) |
K410M |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,780,254 (GRCm39) |
N967K |
probably damaging |
Het |
Mmp8 |
A |
T |
9: 7,561,388 (GRCm39) |
T131S |
probably benign |
Het |
Ms4a14 |
T |
C |
19: 11,279,395 (GRCm39) |
I1054M |
probably benign |
Het |
Mup14 |
A |
G |
4: 61,259,887 (GRCm39) |
M1T |
probably null |
Het |
Myzap |
T |
A |
9: 71,468,320 (GRCm39) |
T110S |
probably benign |
Het |
Nmrk1 |
A |
T |
19: 18,619,606 (GRCm39) |
K153M |
probably damaging |
Het |
Nmrk1 |
G |
T |
19: 18,619,607 (GRCm39) |
K153N |
possibly damaging |
Het |
Or4x12-ps1 |
T |
A |
2: 89,916,704 (GRCm39) |
M34L |
probably benign |
Het |
Or6c70 |
A |
T |
10: 129,710,551 (GRCm39) |
I25N |
probably damaging |
Het |
Pcdh12 |
T |
C |
18: 38,414,842 (GRCm39) |
H761R |
possibly damaging |
Het |
Pde4d |
C |
A |
13: 109,253,301 (GRCm39) |
L43I |
unknown |
Het |
Prrc2a |
A |
T |
17: 35,381,330 (GRCm39) |
S46R |
unknown |
Het |
Rab19 |
A |
G |
6: 39,365,039 (GRCm39) |
T100A |
probably benign |
Het |
Rad51b |
C |
T |
12: 79,347,359 (GRCm39) |
R8* |
probably null |
Het |
Sclt1 |
A |
T |
3: 41,584,032 (GRCm39) |
L642Q |
probably damaging |
Het |
Scyl3 |
T |
C |
1: 163,776,745 (GRCm39) |
I392T |
possibly damaging |
Het |
Sipa1l3 |
A |
G |
7: 29,066,127 (GRCm39) |
W1076R |
probably damaging |
Het |
Slc12a9 |
C |
A |
5: 137,321,082 (GRCm39) |
A478S |
probably damaging |
Het |
Slc5a9 |
C |
A |
4: 111,741,113 (GRCm39) |
C511F |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,450,647 (GRCm39) |
L2612P |
probably damaging |
Het |
Synrg |
C |
T |
11: 83,881,651 (GRCm39) |
T329I |
probably benign |
Het |
Tdrd9 |
A |
G |
12: 112,034,071 (GRCm39) |
T1338A |
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,486,521 (GRCm39) |
D996V |
possibly damaging |
Het |
Ticam2 |
T |
A |
18: 46,693,584 (GRCm39) |
I168L |
probably damaging |
Het |
Tom1l1 |
T |
C |
11: 90,547,185 (GRCm39) |
I374M |
probably benign |
Het |
Trip10 |
A |
T |
17: 57,557,966 (GRCm39) |
K51I |
probably damaging |
Het |
Trpc6 |
T |
A |
9: 8,656,545 (GRCm39) |
D735E |
probably benign |
Het |
Trpm8 |
T |
A |
1: 88,307,481 (GRCm39) |
N1050K |
possibly damaging |
Het |
Tuba8 |
A |
T |
6: 121,202,980 (GRCm39) |
D431V |
probably damaging |
Het |
Ucn2 |
C |
T |
9: 108,815,322 (GRCm39) |
T28I |
possibly damaging |
Het |
Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
Vmn2r8 |
T |
C |
5: 108,945,522 (GRCm39) |
N695S |
possibly damaging |
Het |
Xirp2 |
A |
C |
2: 67,355,904 (GRCm39) |
N3555T |
possibly damaging |
Het |
Zfp119a |
A |
T |
17: 56,173,158 (GRCm39) |
H228Q |
probably damaging |
Het |
Zfr |
T |
A |
15: 12,153,068 (GRCm39) |
H566Q |
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 |
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 |
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'- AGGGCACTGTATCCAGGACTAG -3'
(R):5'- CTGAACTAAGAGTAAAAGGTCTGTC -3'
Sequencing Primer
(F):5'- CACTGTATCCAGGACTAGAATGTGTG -3'
(R):5'- AGGTCTGTCCTCAGTACCTC -3'
|
Posted On |
2019-10-07 |