Incidental Mutation 'R9475:Alas1'
| ID |
715720 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9475 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106110654-106125153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106111261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 635
(S635N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074082]
[ENSMUST00000112524]
[ENSMUST00000133617]
[ENSMUST00000141118]
[ENSMUST00000143125]
[ENSMUST00000214989]
|
| AlphaFold |
Q8VC19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074082
AA Change: S634N
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000073725
Gene: ENSMUSG00000032786
AA Change: S634N
| 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: S635N
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108143
Gene: ENSMUSG00000032786
AA Change: S635N
| 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 benign
Transcript: ENSMUST00000141118
AA Change: S635N
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117014
Gene: ENSMUSG00000032786
AA Change: S635N
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
T |
7: 45,665,892 (GRCm39) |
W243R |
probably damaging |
Het |
| Ablim1 |
T |
G |
19: 57,227,612 (GRCm39) |
K18Q |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,504,570 (GRCm39) |
N174Y |
possibly damaging |
Het |
| Afg2a |
T |
C |
3: 37,486,058 (GRCm39) |
V260A |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,614,437 (GRCm39) |
H23R |
probably benign |
Het |
| Akap6 |
T |
G |
12: 53,057,335 (GRCm39) |
Y934D |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,478,133 (GRCm39) |
|
probably null |
Het |
| Atp6v0a4 |
A |
G |
6: 38,037,917 (GRCm39) |
L560P |
probably damaging |
Het |
| Cacng1 |
C |
T |
11: 107,607,118 (GRCm39) |
V34M |
possibly damaging |
Het |
| Clcn3 |
C |
T |
8: 61,387,551 (GRCm39) |
A233T |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,946,949 (GRCm39) |
F160S |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,881,276 (GRCm39) |
S719G |
probably damaging |
Het |
| Exosc2 |
G |
A |
2: 31,564,755 (GRCm39) |
V107I |
probably benign |
Het |
| Fam83b |
C |
A |
9: 76,399,085 (GRCm39) |
V673F |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,927,929 (GRCm39) |
F3781L |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,660 (GRCm39) |
L289H |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,370 (GRCm39) |
I329V |
probably benign |
Het |
| Gli3 |
G |
A |
13: 15,900,296 (GRCm39) |
G1228S |
possibly damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,431,558 (GRCm39) |
F72S |
possibly damaging |
Het |
| Hao1 |
T |
A |
2: 134,390,181 (GRCm39) |
M53L |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Iqcm |
A |
G |
8: 76,480,083 (GRCm39) |
E347G |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnrg |
A |
G |
14: 61,845,106 (GRCm39) |
I49V |
possibly damaging |
Het |
| Lrrc8e |
G |
A |
8: 4,285,346 (GRCm39) |
G524S |
probably benign |
Het |
| Lrrn1 |
A |
T |
6: 107,545,261 (GRCm39) |
Y353F |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,739,849 (GRCm39) |
D3701G |
possibly damaging |
Het |
| Mtmr2 |
A |
G |
9: 13,716,767 (GRCm39) |
T623A |
probably benign |
Het |
| Ndst4 |
C |
A |
3: 125,508,296 (GRCm39) |
S287* |
probably null |
Het |
| Ntrk3 |
A |
C |
7: 77,952,480 (GRCm39) |
M579R |
probably benign |
Het |
| Oas1a |
G |
A |
5: 121,037,317 (GRCm39) |
L237F |
probably damaging |
Het |
| Or2aj4 |
T |
C |
16: 19,385,270 (GRCm39) |
D121G |
probably benign |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,939 (GRCm39) |
M272T |
probably benign |
Het |
| Paqr5 |
T |
A |
9: 61,863,507 (GRCm39) |
I272F |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,140,591 (GRCm39) |
V740E |
probably damaging |
Het |
| Pdgfra |
A |
C |
5: 75,328,588 (GRCm39) |
N240T |
possibly damaging |
Het |
| Plbd2 |
G |
A |
5: 120,632,445 (GRCm39) |
Q186* |
probably null |
Het |
| Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
| Ppargc1a |
C |
A |
5: 51,653,080 (GRCm39) |
G161C |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,210,476 (GRCm39) |
I166T |
possibly damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Rpap2 |
T |
A |
5: 107,768,455 (GRCm39) |
L431Q |
probably damaging |
Het |
| Rslcan18 |
T |
A |
13: 67,250,128 (GRCm39) |
K160* |
probably null |
Het |
| Sema7a |
T |
C |
9: 57,862,188 (GRCm39) |
F180L |
probably benign |
Het |
| Sh2d3c |
C |
T |
2: 32,643,039 (GRCm39) |
L741F |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skic2 |
A |
T |
17: 35,060,078 (GRCm39) |
D897E |
probably benign |
Het |
| Skint6 |
C |
T |
4: 112,664,037 (GRCm39) |
|
probably null |
Het |
| Slc35f3 |
T |
C |
8: 127,108,993 (GRCm39) |
S181P |
probably damaging |
Het |
| Slc4a9 |
A |
T |
18: 36,662,269 (GRCm39) |
E127V |
probably null |
Het |
| Speg |
C |
T |
1: 75,364,735 (GRCm39) |
T372I |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,735 (GRCm39) |
T204A |
probably benign |
Het |
| Tas2r138 |
T |
A |
6: 40,589,392 (GRCm39) |
M285L |
probably benign |
Het |
| Tbc1d10a |
G |
C |
11: 4,163,604 (GRCm39) |
K285N |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,393,228 (GRCm39) |
M239L |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,039,761 (GRCm39) |
S1293P |
probably benign |
Het |
| Uaca |
C |
T |
9: 60,779,498 (GRCm39) |
T1295M |
possibly damaging |
Het |
| Ubald1 |
G |
T |
16: 4,693,433 (GRCm39) |
Q161K |
possibly damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
| Vps45 |
T |
G |
3: 95,950,237 (GRCm39) |
T231P |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,088,512 (GRCm39) |
D1186E |
probably benign |
Het |
| Zfp534 |
G |
A |
4: 147,766,731 (GRCm39) |
T8I |
probably benign |
Het |
| Zfp68 |
T |
C |
5: 138,605,517 (GRCm39) |
N269D |
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 |
|
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 |
|
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'- GTGGTCAACAGCAGAAACAC -3'
(R):5'- TCACCCTCCTGAATGCTAGC -3'
Sequencing Primer
(F):5'- GTGGTCAACAGCAGAAACACCTAAC -3'
(R):5'- ATGCAACTTCTGCAGGAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation