Mutagenetix > Incidental Mutation

Incidental Mutation 'R0115:Alas1'

20727

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

038401-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0115 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

106110654-106125153 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 106115451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074082] [ENSMUST00000112524] [ENSMUST00000133617] [ENSMUST00000141118] [ENSMUST00000143125] [ENSMUST00000215222] [ENSMUST00000219129] [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 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: ENSMUST00000219340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214249

Predicted Effect

probably benign
Transcript: ENSMUST00000215222

Predicted Effect

probably benign
Transcript: ENSMUST00000219129

Predicted Effect

probably benign
Transcript: ENSMUST00000214989

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 86.0%

Validation Efficiency

98% (98/100)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	G	9: 114,108,452 (GRCm39)		noncoding transcript	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
Arhgap20	T	A	9: 51,750,272 (GRCm39)	I344N	probably damaging	Het
Arhgap30	A	C	1: 171,235,516 (GRCm39)	E630A	possibly damaging	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bysl	C	T	17: 47,921,867 (GRCm39)	R77Q	probably benign	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccdc146	T	C	5: 21,527,754 (GRCm39)	I187M	possibly damaging	Het
Ccdc192	G	A	18: 57,727,214 (GRCm39)		probably benign	Het
Cdhr18	A	G	14: 13,899,571 (GRCm38)	V117A	probably damaging	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Ces5a	A	T	8: 94,228,811 (GRCm39)	M473K	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Cyp2c50	T	A	19: 40,080,837 (GRCm39)		probably benign	Het
Dlg1	C	A	16: 31,624,508 (GRCm39)	Y399*	probably null	Het
Drosha	A	T	15: 12,846,216 (GRCm39)	E92D	probably benign	Het
Fanca	C	T	8: 123,995,278 (GRCm39)	G1408D	probably benign	Het
Frem1	T	A	4: 82,854,406 (GRCm39)	D1621V	possibly damaging	Het
Frem2	G	A	3: 53,563,629 (GRCm39)	R293C	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Glipr1	A	G	10: 111,829,446 (GRCm39)	I105T	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Gon4l	T	A	3: 88,802,989 (GRCm39)	V1200D	probably damaging	Het
Gpc1	G	A	1: 92,785,221 (GRCm39)	D387N	probably damaging	Het
Gsdmc	A	G	15: 63,675,486 (GRCm39)	Y110H	probably damaging	Het
Gucy1b1	T	A	3: 81,941,698 (GRCm39)	H586L	probably benign	Het
Gucy2e	A	G	11: 69,127,458 (GRCm39)	L5P	unknown	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,684,398 (GRCm39)	I391F	possibly damaging	Het
Hsf4	A	T	8: 105,999,336 (GRCm39)		probably null	Het
I830077J02Rik	G	A	3: 105,833,886 (GRCm39)	T90M	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnma1	C	A	14: 23,364,243 (GRCm39)	R980L	probably damaging	Het
Kif1a	A	G	1: 92,974,500 (GRCm39)		probably benign	Het
Klhdc7b	A	G	15: 89,272,724 (GRCm39)	H1202R	probably benign	Het
Lig3	A	G	11: 82,684,761 (GRCm39)	D559G	probably damaging	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Mab21l4	A	T	1: 93,087,447 (GRCm39)	S135R	possibly damaging	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Marchf6	A	T	15: 31,475,958 (GRCm39)	F633I	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Megf10	G	T	18: 57,392,874 (GRCm39)	V424L	possibly damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mmut	C	T	17: 41,267,118 (GRCm39)	T564M	probably damaging	Het
Myh8	A	G	11: 67,197,090 (GRCm39)		probably benign	Het
Mypn	T	C	10: 63,028,159 (GRCm39)		probably benign	Het
Nf1	G	A	11: 79,359,702 (GRCm39)		probably null	Het
Notch3	T	A	17: 32,352,436 (GRCm39)	T1866S	possibly damaging	Het
Or1e30	A	G	11: 73,678,141 (GRCm39)	I126V	possibly damaging	Het
Or1o11	C	T	17: 37,756,670 (GRCm39)	A86V	probably benign	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Pkhd1	A	T	1: 20,420,714 (GRCm39)	I2464N	probably damaging	Het
Pkn1	A	G	8: 84,397,658 (GRCm39)	S817P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Psmd1	C	T	1: 86,010,993 (GRCm39)	T356I	possibly damaging	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rbm42	G	A	7: 30,347,200 (GRCm39)	T106I	probably damaging	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rorc	T	C	3: 94,284,916 (GRCm39)		probably benign	Het
Rpl22l1	T	C	3: 28,860,685 (GRCm39)	F15L	probably damaging	Het
Slc6a20a	C	A	9: 123,507,823 (GRCm39)	A17S	possibly damaging	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Sp100	A	G	1: 85,577,852 (GRCm39)		probably benign	Het
Ssc5d	G	A	7: 4,930,880 (GRCm39)		probably benign	Het
Taf11	A	G	17: 28,126,635 (GRCm39)	L4P	probably benign	Het
Tm2d3	A	G	7: 65,345,082 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,201 (GRCm39)		probably null	Het
Trim34a	T	A	7: 103,897,109 (GRCm39)	C58S	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm6	T	C	19: 18,807,316 (GRCm39)	V1020A	probably damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r74	T	C	7: 85,606,564 (GRCm39)	M261V	probably benign	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Wdr95	A	T	5: 149,487,855 (GRCm39)	D163V	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Ythdc2	C	T	18: 44,974,490 (GRCm39)		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
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
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'- GGTGTAAGTTAGACCAGCCAGTGAC -3'
(R):5'- TAACCTGAAGCCTGGGATGCAGAG -3'

Sequencing Primer
(F):5'- TGTATACCCAAAGCTCAGCGTG -3'
(R):5'- acatggatgttacatggatgttac -3'

Posted On

2013-04-11