Incidental Mutation 'R4091:Alas1'
| ID |
317620 |
| 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 |
041626-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106110654-106125153 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 106119000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074082]
[ENSMUST00000112524]
[ENSMUST00000133617]
[ENSMUST00000141118]
[ENSMUST00000219129]
[ENSMUST00000143125]
[ENSMUST00000215222]
[ENSMUST00000214989]
|
| 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 |
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 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 null
Transcript: ENSMUST00000219129
|
| 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: ENSMUST00000215222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214989
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,575,722 (GRCm39) |
S674P |
possibly damaging |
Het |
| Abca3 |
C |
T |
17: 24,616,456 (GRCm39) |
T966M |
probably damaging |
Het |
| Adam2 |
A |
T |
14: 66,267,172 (GRCm39) |
Y696N |
probably damaging |
Het |
| Arhgap25 |
G |
T |
6: 87,440,017 (GRCm39) |
S543R |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,084,738 (GRCm39) |
A3897T |
probably benign |
Het |
| Carns1 |
C |
T |
19: 4,221,682 (GRCm39) |
R191Q |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,643,611 (GRCm39) |
P895T |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,609,646 (GRCm39) |
I287F |
probably damaging |
Het |
| Cystm1 |
A |
G |
18: 36,499,600 (GRCm39) |
N5S |
unknown |
Het |
| Dnah8 |
T |
C |
17: 30,988,813 (GRCm39) |
V3261A |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,062,550 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,894,266 (GRCm39) |
S1847P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,131,881 (GRCm39) |
V1642A |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,730,242 (GRCm39) |
|
probably null |
Het |
| Fam221b |
A |
G |
4: 43,665,987 (GRCm39) |
I208T |
probably benign |
Het |
| Gpr141b |
T |
A |
13: 19,913,635 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
T |
C |
1: 135,089,301 (GRCm39) |
I255V |
probably benign |
Het |
| Grm7 |
G |
A |
6: 110,891,301 (GRCm39) |
S178N |
probably damaging |
Het |
| Hspa12b |
T |
A |
2: 130,975,408 (GRCm39) |
|
probably null |
Het |
| Kctd3 |
A |
T |
1: 188,727,917 (GRCm39) |
|
probably benign |
Het |
| Kynu |
G |
A |
2: 43,569,884 (GRCm39) |
V389M |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,666,538 (GRCm39) |
L328P |
probably benign |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Maml1 |
G |
A |
11: 50,182,656 (GRCm39) |
P78L |
probably benign |
Het |
| Mef2b |
G |
A |
8: 70,617,752 (GRCm39) |
V37M |
probably damaging |
Het |
| Mindy2 |
A |
T |
9: 70,541,342 (GRCm39) |
M281K |
probably damaging |
Het |
| Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
| Mtr |
A |
T |
13: 12,245,943 (GRCm39) |
V394E |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,282,415 (GRCm39) |
T745S |
possibly damaging |
Het |
| Nme9 |
T |
A |
9: 99,346,580 (GRCm39) |
D131E |
possibly damaging |
Het |
| Nphp4 |
C |
A |
4: 152,631,475 (GRCm39) |
Q792K |
probably damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,523,444 (GRCm39) |
C479S |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,950,871 (GRCm39) |
I406T |
probably damaging |
Het |
| Or10a49 |
G |
A |
7: 108,467,650 (GRCm39) |
A237V |
probably damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,143 (GRCm39) |
D71V |
probably damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,330 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,757,960 (GRCm39) |
T197A |
probably benign |
Het |
| Pla2r1 |
T |
A |
2: 60,262,937 (GRCm39) |
N1034I |
probably damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp1 |
A |
T |
3: 79,552,068 (GRCm39) |
D744E |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,887 (GRCm39) |
N125D |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,381,909 (GRCm39) |
V121M |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,993,897 (GRCm39) |
D247E |
possibly damaging |
Het |
| Smg9 |
T |
A |
7: 24,120,292 (GRCm39) |
L422Q |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Tle5 |
G |
A |
10: 81,401,418 (GRCm39) |
G162D |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,585,915 (GRCm39) |
D954V |
probably benign |
Het |
| Vmn1r227 |
T |
A |
17: 20,955,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r11 |
A |
C |
5: 109,202,616 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,238 (GRCm39) |
M200K |
probably damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,652,883 (GRCm39) |
Y469N |
probably damaging |
Het |
| Wdcp |
A |
G |
12: 4,905,279 (GRCm39) |
N600S |
probably null |
Het |
| Wdfy4 |
T |
G |
14: 32,847,837 (GRCm39) |
R838S |
possibly 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 |
|
|
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'- TCACACTTTGGCAAGTTATCCTG -3'
(R):5'- TACTCCAGCACAGCATGGTTG -3'
Sequencing Primer
(F):5'- CCTGAAGAAGATGAGACACTCTTTC -3'
(R):5'- AGATTTAGAGATCTGCCTGACCCTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation