Incidental Mutation 'R0346:Alas1'
ID |
34280 |
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 |
038553-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0346 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106110654-106125153 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106120550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 82
(S82T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150950
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074082]
[ENSMUST00000112524]
[ENSMUST00000133617]
[ENSMUST00000141118]
[ENSMUST00000143125]
[ENSMUST00000215222]
[ENSMUST00000219129]
[ENSMUST00000214989]
|
AlphaFold |
Q8VC19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074082
AA Change: S82T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000073725 Gene: ENSMUSG00000032786 AA Change: S82T
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: S82T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108143 Gene: ENSMUSG00000032786 AA Change: S82T
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: S81T
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000122117 Gene: ENSMUSG00000032786 AA Change: S81T
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: S82T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000117014 Gene: ENSMUSG00000032786 AA Change: S82T
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 |
possibly damaging
Transcript: ENSMUST00000215222
AA Change: S82T
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219129
AA Change: S82T
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214249
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214989
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219340
|
Meta Mutation Damage Score |
0.0587 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.4%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,516,278 (GRCm39) |
I4406L |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
Add3 |
C |
T |
19: 53,205,387 (GRCm39) |
R46* |
probably null |
Het |
Alkbh5 |
C |
G |
11: 60,429,567 (GRCm39) |
R107G |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,582,479 (GRCm39) |
R365* |
probably null |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,034,718 (GRCm39) |
D168G |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Caln1 |
C |
A |
5: 130,851,762 (GRCm39) |
H184N |
possibly damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Ccdc191 |
T |
C |
16: 43,759,315 (GRCm39) |
V372A |
probably damaging |
Het |
Ccng2 |
T |
G |
5: 93,418,753 (GRCm39) |
I126S |
probably damaging |
Het |
Cep85 |
A |
T |
4: 133,859,733 (GRCm39) |
N643K |
probably damaging |
Het |
Clvs2 |
G |
C |
10: 33,498,542 (GRCm39) |
S129R |
possibly damaging |
Het |
Cntn1 |
G |
T |
15: 92,129,968 (GRCm39) |
|
probably benign |
Het |
Cttn |
A |
T |
7: 144,006,276 (GRCm39) |
|
probably benign |
Het |
Dedd2 |
T |
C |
7: 24,910,694 (GRCm39) |
S161G |
possibly damaging |
Het |
Dnajb13 |
T |
C |
7: 100,153,132 (GRCm39) |
D263G |
probably damaging |
Het |
Dppa4 |
T |
A |
16: 48,109,687 (GRCm39) |
|
probably benign |
Het |
Ear2 |
A |
G |
14: 44,340,363 (GRCm39) |
E7G |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,345,452 (GRCm39) |
|
probably benign |
Het |
Etl4 |
G |
T |
2: 20,764,463 (GRCm39) |
|
probably null |
Het |
Fbxo15 |
T |
A |
18: 84,978,346 (GRCm39) |
|
probably null |
Het |
Gm9970 |
A |
G |
5: 31,398,182 (GRCm39) |
|
probably benign |
Het |
Hap1 |
A |
G |
11: 100,246,855 (GRCm39) |
S17P |
probably benign |
Het |
Hgd |
C |
T |
16: 37,409,136 (GRCm39) |
|
probably benign |
Het |
Ift56 |
T |
C |
6: 38,386,370 (GRCm39) |
C364R |
probably damaging |
Het |
Inpp5f |
T |
A |
7: 128,292,392 (GRCm39) |
L16Q |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,498,183 (GRCm39) |
D404G |
probably damaging |
Het |
Islr2 |
G |
A |
9: 58,105,626 (GRCm39) |
R545* |
probably null |
Het |
Itgav |
G |
T |
2: 83,622,953 (GRCm39) |
C675F |
probably damaging |
Het |
Kif13a |
T |
A |
13: 46,967,695 (GRCm39) |
I403L |
possibly damaging |
Het |
Kif14 |
T |
A |
1: 136,395,898 (GRCm39) |
I68N |
probably damaging |
Het |
Kif26a |
G |
T |
12: 112,145,782 (GRCm39) |
K1764N |
probably null |
Het |
Lrrd1 |
C |
A |
5: 3,900,215 (GRCm39) |
F173L |
probably benign |
Het |
Mroh4 |
G |
C |
15: 74,486,141 (GRCm39) |
|
probably benign |
Het |
Msh5 |
A |
G |
17: 35,248,864 (GRCm39) |
V723A |
probably benign |
Het |
Mybph |
T |
G |
1: 134,125,492 (GRCm39) |
I279S |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,151,152 (GRCm39) |
I1936L |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,493,270 (GRCm39) |
T704S |
probably benign |
Het |
Nav2 |
C |
A |
7: 49,254,333 (GRCm39) |
T2377K |
probably benign |
Het |
Nipbl |
T |
G |
15: 8,390,440 (GRCm39) |
Q276H |
probably damaging |
Het |
Nlrp9b |
T |
C |
7: 19,758,440 (GRCm39) |
L559P |
probably damaging |
Het |
Nup210l |
T |
A |
3: 90,096,745 (GRCm39) |
V1318E |
probably damaging |
Het |
Or1e26 |
A |
G |
11: 73,480,283 (GRCm39) |
Y94H |
probably damaging |
Het |
Or4z4 |
A |
T |
19: 12,076,803 (GRCm39) |
S67T |
probably damaging |
Het |
Or6c8b |
C |
A |
10: 128,882,342 (GRCm39) |
V197F |
possibly damaging |
Het |
Or7e178 |
A |
G |
9: 20,225,707 (GRCm39) |
S170P |
probably benign |
Het |
P2ry13 |
T |
C |
3: 59,116,987 (GRCm39) |
T264A |
possibly damaging |
Het |
Plekhg5 |
T |
C |
4: 152,198,710 (GRCm39) |
L966P |
probably benign |
Het |
Prss35 |
A |
G |
9: 86,637,404 (GRCm39) |
K58R |
probably benign |
Het |
Ptafr |
T |
A |
4: 132,307,390 (GRCm39) |
L260* |
probably null |
Het |
Pum1 |
A |
T |
4: 130,507,116 (GRCm39) |
T1157S |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
A |
G |
11: 44,445,991 (GRCm39) |
Y275C |
probably damaging |
Het |
Rpl6 |
A |
T |
5: 121,346,554 (GRCm39) |
K218N |
possibly damaging |
Het |
Rps6 |
T |
C |
4: 86,774,218 (GRCm39) |
T128A |
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,767,013 (GRCm39) |
|
probably benign |
Het |
Scel |
A |
T |
14: 103,767,420 (GRCm39) |
Q26H |
probably damaging |
Het |
Sfxn4 |
A |
T |
19: 60,847,111 (GRCm39) |
D57E |
probably benign |
Het |
Slc35d1 |
A |
C |
4: 103,048,044 (GRCm39) |
L240R |
probably damaging |
Het |
Smcr8 |
A |
G |
11: 60,670,576 (GRCm39) |
I575V |
probably benign |
Het |
Spata31e4 |
T |
C |
13: 50,857,346 (GRCm39) |
Y995H |
probably benign |
Het |
Syk |
G |
A |
13: 52,794,695 (GRCm39) |
M476I |
probably damaging |
Het |
Tbcel |
A |
T |
9: 42,348,539 (GRCm39) |
|
probably benign |
Het |
Tob2 |
C |
A |
15: 81,742,424 (GRCm39) |
G65W |
probably damaging |
Het |
Trim16 |
A |
G |
11: 62,731,520 (GRCm39) |
N464D |
probably benign |
Het |
Trim36 |
T |
C |
18: 46,332,776 (GRCm39) |
|
probably benign |
Het |
Trpv4 |
C |
A |
5: 114,768,590 (GRCm39) |
|
probably benign |
Het |
Tsga10 |
T |
A |
1: 37,879,600 (GRCm39) |
T64S |
possibly damaging |
Het |
Vars2 |
A |
T |
17: 35,975,756 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
C |
A |
7: 11,403,621 (GRCm39) |
V276L |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,655,333 (GRCm39) |
K1898N |
probably benign |
Het |
Vps18 |
A |
G |
2: 119,127,645 (GRCm39) |
M823V |
probably damaging |
Het |
Washc2 |
T |
C |
6: 116,197,484 (GRCm39) |
|
probably benign |
Het |
Zfp763 |
A |
T |
17: 33,238,721 (GRCm39) |
H141Q |
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 |
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 |
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'- TGCTACACAGCCTAGTAGTAGCTCG -3'
(R):5'- TCAGCCCTTCAGAAAGCCACTGTC -3'
Sequencing Primer
(F):5'- CTCGCATATAAACCGGAGGGTC -3'
(R):5'- AGCCACTGTCAGGTGAGG -3'
|
Posted On |
2013-05-09 |