Incidental Mutation 'R5993:Alas1'
| ID |
480952 |
| 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 |
044172-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5993 (G1)
|
| Quality Score |
170.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106110654-106125153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106111328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 613
(F613L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074082]
[ENSMUST00000112524]
[ENSMUST00000133617]
[ENSMUST00000141118]
[ENSMUST00000214989]
[ENSMUST00000143125]
|
| AlphaFold |
Q8VC19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074082
AA Change: F612L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000073725
Gene: ENSMUSG00000032786
AA Change: F612L
| 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: F613L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108143
Gene: ENSMUSG00000032786
AA Change: F613L
| 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 benign
Transcript: ENSMUST00000141118
AA Change: F613L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117014
Gene: ENSMUSG00000032786
AA Change: F613L
| 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 benign
Transcript: ENSMUST00000214989
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,236,604 (GRCm39) |
N805K |
probably damaging |
Het |
| Add1 |
A |
C |
5: 34,758,877 (GRCm39) |
S64R |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,487,531 (GRCm39) |
|
probably benign |
Het |
| Anks3 |
C |
T |
16: 4,776,001 (GRCm39) |
G67D |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,407,269 (GRCm39) |
T2052I |
probably benign |
Het |
| Atp8b4 |
C |
T |
2: 126,245,154 (GRCm39) |
V332I |
probably benign |
Het |
| Bin2 |
CGGAGCTGA |
C |
15: 100,542,901 (GRCm39) |
|
probably null |
Het |
| Bpifb3 |
T |
A |
2: 153,771,234 (GRCm39) |
M382K |
probably benign |
Het |
| Ccdc149 |
C |
T |
5: 52,560,117 (GRCm39) |
R246Q |
probably damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,550 (GRCm39) |
K462E |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,392,125 (GRCm39) |
T9A |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,000,799 (GRCm39) |
Y362H |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,412 (GRCm39) |
I998T |
probably damaging |
Het |
| Dclre1a |
A |
C |
19: 56,531,169 (GRCm39) |
Y726D |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,299,372 (GRCm39) |
V1578A |
probably benign |
Het |
| Dppa4 |
C |
T |
16: 48,109,709 (GRCm39) |
R110* |
probably null |
Het |
| Drc7 |
T |
A |
8: 95,800,820 (GRCm39) |
V614E |
probably benign |
Het |
| Garin2 |
C |
A |
12: 78,762,210 (GRCm39) |
N12K |
probably damaging |
Het |
| Gcc1 |
G |
A |
6: 28,424,851 (GRCm39) |
|
probably null |
Het |
| Greb1l |
G |
A |
18: 10,544,455 (GRCm39) |
D1350N |
probably benign |
Het |
| Kcnc1 |
G |
A |
7: 46,076,956 (GRCm39) |
V253M |
probably damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,884 (GRCm39) |
I323F |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,978,324 (GRCm39) |
V320A |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,454,161 (GRCm39) |
F112Y |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,310,138 (GRCm39) |
T800A |
probably damaging |
Het |
| Mroh1 |
C |
A |
15: 76,330,880 (GRCm39) |
A1197E |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,526,220 (GRCm39) |
H39Q |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,120,982 (GRCm39) |
T588I |
probably benign |
Het |
| Oxld1 |
A |
G |
11: 120,347,835 (GRCm39) |
S121P |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,855,273 (GRCm39) |
K444E |
possibly damaging |
Het |
| Prox1 |
T |
A |
1: 189,894,436 (GRCm39) |
D3V |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,876,296 (GRCm39) |
T1052A |
probably benign |
Het |
| Rhot2 |
T |
A |
17: 26,060,085 (GRCm39) |
T299S |
probably benign |
Het |
| Rhov |
A |
G |
2: 119,100,533 (GRCm39) |
F235L |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,841,863 (GRCm39) |
R158S |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,875,490 (GRCm39) |
E431D |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,274,307 (GRCm39) |
E186G |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,466,572 (GRCm39) |
L158H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,280,946 (GRCm39) |
T40A |
probably benign |
Het |
| Shroom3 |
A |
T |
5: 93,088,047 (GRCm39) |
S185C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,666,276 (GRCm39) |
V1183D |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,739,732 (GRCm39) |
V3405A |
probably benign |
Het |
| Supt16 |
C |
A |
14: 52,415,791 (GRCm39) |
R357L |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,069,253 (GRCm39) |
|
probably null |
Het |
| Topaz1 |
T |
C |
9: 122,578,104 (GRCm39) |
L338S |
probably benign |
Het |
| Ttll3 |
T |
A |
6: 113,374,992 (GRCm39) |
Y139* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,626,251 (GRCm39) |
D6641A |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,743,163 (GRCm39) |
D886G |
probably benign |
Het |
| Zc3h7a |
T |
A |
16: 10,968,526 (GRCm39) |
K484N |
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 |
|
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 |
|
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'- TCAGTGGTCAACAGCAGAAAC -3'
(R):5'- ACCCTCCTGAATGCTAGCTCTG -3'
Sequencing Primer
(F):5'- CACACTAACCAGGACTATGATTTTAC -3'
(R):5'- GGGCAAAAGATCCTGTGAT -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation