Incidental Mutation 'R5215:Alas1'
| ID |
403426 |
| 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 |
042788-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5215 (G1)
|
| Quality Score |
141 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106110654-106125153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106120574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 73
(A73S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074082]
[ENSMUST00000112524]
[ENSMUST00000133617]
[ENSMUST00000141118]
[ENSMUST00000143125]
[ENSMUST00000219129]
[ENSMUST00000215222]
[ENSMUST00000214989]
|
| AlphaFold |
Q8VC19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074082
AA Change: A74S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073725
Gene: ENSMUSG00000032786
AA Change: A74S
| 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 benign
Transcript: ENSMUST00000112524
AA Change: A74S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108143
Gene: ENSMUSG00000032786
AA Change: A74S
| 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: ENSMUST00000123601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133617
AA Change: A73S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000122117
Gene: ENSMUSG00000032786
AA Change: A73S
| 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 benign
Transcript: ENSMUST00000141118
AA Change: A74S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117014
Gene: ENSMUSG00000032786
AA Change: A74S
| 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 |
noncoding transcript
Transcript: ENSMUST00000180701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219129
AA Change: A74S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215222
AA Change: A74S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214249
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219340
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (79/79) |
| 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 |
|---|
| Aldoart2 |
G |
A |
12: 55,612,204 (GRCm39) |
R43Q |
probably benign |
Het |
| Ano4 |
T |
C |
10: 89,153,165 (GRCm39) |
H49R |
possibly damaging |
Het |
| Atic |
T |
C |
1: 71,603,666 (GRCm39) |
S161P |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,341,659 (GRCm39) |
E244G |
probably benign |
Het |
| Cd164l2 |
C |
A |
4: 132,948,789 (GRCm39) |
L42I |
unknown |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,238 (GRCm39) |
R156G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdk5 |
T |
A |
5: 24,624,459 (GRCm39) |
N265I |
probably benign |
Het |
| Cfap69 |
G |
T |
5: 5,639,133 (GRCm39) |
N262K |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,791,873 (GRCm39) |
V2495M |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,205,539 (GRCm39) |
F521I |
possibly damaging |
Het |
| Crb2 |
A |
G |
2: 37,683,765 (GRCm39) |
E1089G |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,929,795 (GRCm39) |
D166G |
probably damaging |
Het |
| Dhodh |
G |
A |
8: 110,332,975 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
G |
A |
5: 139,147,632 (GRCm39) |
V399I |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,121,096 (GRCm39) |
T526A |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,885,219 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
A |
15: 78,558,401 (GRCm39) |
I49F |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,045,655 (GRCm39) |
T152A |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,292,988 (GRCm39) |
T85K |
probably damaging |
Het |
| Gimap8 |
A |
T |
6: 48,628,017 (GRCm39) |
Y258F |
possibly damaging |
Het |
| Glmn |
A |
G |
5: 107,709,752 (GRCm39) |
C351R |
probably benign |
Het |
| Gm10032 |
T |
C |
14: 67,029,998 (GRCm39) |
|
noncoding transcript |
Het |
| Gorasp2 |
G |
A |
2: 70,519,598 (GRCm39) |
A328T |
probably benign |
Het |
| Grin1 |
A |
T |
2: 25,193,919 (GRCm39) |
H392Q |
probably benign |
Het |
| Gzmn |
A |
G |
14: 56,405,319 (GRCm39) |
V55A |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,124,876 (GRCm39) |
S497T |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,985,515 (GRCm39) |
D222V |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,026,966 (GRCm39) |
H761R |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,076,480 (GRCm39) |
D2101E |
possibly damaging |
Het |
| Kcng1 |
C |
T |
2: 168,105,053 (GRCm39) |
M264I |
probably benign |
Het |
| Klra14-ps |
C |
A |
6: 130,134,646 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,974 (GRCm39) |
C270* |
probably null |
Het |
| Lama3 |
A |
G |
18: 12,710,957 (GRCm39) |
H3164R |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,574,371 (GRCm39) |
I1042T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,741,418 (GRCm39) |
M3840T |
possibly damaging |
Het |
| Mtor |
A |
T |
4: 148,538,440 (GRCm39) |
H166L |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,249,560 (GRCm39) |
N556D |
possibly damaging |
Het |
| Oca2 |
A |
T |
7: 55,945,246 (GRCm39) |
R285* |
probably null |
Het |
| Or12d13 |
T |
A |
17: 37,647,704 (GRCm39) |
I140F |
probably benign |
Het |
| Or2at1 |
A |
G |
7: 99,416,717 (GRCm39) |
E116G |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,631 (GRCm39) |
|
noncoding transcript |
Het |
| Or56a3b |
G |
A |
7: 104,775,771 (GRCm39) |
H246Y |
probably damaging |
Het |
| Or8g33 |
A |
T |
9: 39,337,919 (GRCm39) |
Y149* |
probably null |
Het |
| Pan3 |
A |
G |
5: 147,391,915 (GRCm39) |
|
probably null |
Het |
| Pard3 |
G |
A |
8: 128,104,745 (GRCm39) |
V496M |
probably damaging |
Het |
| Pdcd2l |
A |
T |
7: 33,892,314 (GRCm39) |
V185D |
possibly damaging |
Het |
| Pgghg |
T |
C |
7: 140,526,477 (GRCm39) |
V623A |
possibly damaging |
Het |
| Pigu |
C |
A |
2: 155,177,249 (GRCm39) |
|
probably benign |
Het |
| Pkmyt1 |
G |
A |
17: 23,951,566 (GRCm39) |
R40Q |
probably benign |
Het |
| Prag1 |
G |
A |
8: 36,567,043 (GRCm39) |
A65T |
probably benign |
Het |
| Prkdc |
C |
A |
16: 15,589,985 (GRCm39) |
T2616N |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,391,030 (GRCm39) |
E1360K |
probably benign |
Het |
| Ptprt |
C |
T |
2: 162,120,084 (GRCm39) |
V128M |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,462 (GRCm39) |
S1016L |
probably benign |
Het |
| Rprd1a |
G |
T |
18: 24,621,257 (GRCm39) |
D307E |
probably damaging |
Het |
| Slc11a1 |
A |
T |
1: 74,422,936 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,457,386 (GRCm39) |
M209K |
probably damaging |
Het |
| Slf2 |
T |
G |
19: 44,936,476 (GRCm39) |
L707R |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,563 (GRCm39) |
M770K |
probably damaging |
Het |
| Taf6l |
T |
C |
19: 8,755,417 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
C |
A |
4: 46,614,006 (GRCm39) |
V692L |
probably benign |
Het |
| Tnpo3 |
C |
T |
6: 29,582,152 (GRCm39) |
|
probably benign |
Het |
| Txndc16 |
A |
T |
14: 45,448,597 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,525 (GRCm39) |
K1125R |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,994,351 (GRCm39) |
S433P |
probably benign |
Het |
| Zc3h12a |
A |
G |
4: 125,020,706 (GRCm39) |
S46P |
probably benign |
Het |
| Zwilch |
T |
G |
9: 64,054,156 (GRCm39) |
I490L |
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 |
|
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'- CTCACAGCATGCATTTCCTG -3'
(R):5'- AAAGCCACTGTCAGGTGAGG -3'
Sequencing Primer
(F):5'- ACGTCCTCCTGGAGCTC -3'
(R):5'- CACTGTCAGGTGAGGCAGGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation