Mutagenetix > Incidental Mutations

Incidental Mutation 'R4948:Alas1'

383588

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

042545-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4948 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106233455-106248654 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 106246878 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 27 (L27*)

Ref Sequence

ENSEMBL: ENSMUSP00000151891 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000074082
AA Change: L27*

SMART Domains

Protein: ENSMUSP00000073725
Gene: ENSMUSG00000032786
AA Change: L27*

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
AA Change: L27*

SMART Domains

Protein: ENSMUSP00000108143
Gene: ENSMUSG00000032786
AA Change: L27*

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 null
Transcript: ENSMUST00000133617
AA Change: L27*

SMART Domains

Protein: ENSMUSP00000122117
Gene: ENSMUSG00000032786
AA Change: L27*

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
AA Change: L27*

SMART Domains

Protein: ENSMUSP00000117014
Gene: ENSMUSG00000032786
AA Change: L27*

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: ENSMUST00000180701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214249

Predicted Effect

probably null
Transcript: ENSMUST00000215222
AA Change: L27*

Predicted Effect

probably null
Transcript: ENSMUST00000219129
AA Change: L27*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219340

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,290		probably null	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Aldh1a7	A	G	19: 20,727,010	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,194,583	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,769,144	M38L	probably benign	Het
Brd8	A	G	18: 34,614,532	V92A	probably damaging	Het
Btla	A	T	16: 45,242,728	E151D	probably benign	Het
C87499	A	T	4: 88,628,948	L162H	probably damaging	Het
Cd79b	T	A	11: 106,312,861	T67S	probably benign	Het
Cep192	A	G	18: 67,816,804	R320G	probably benign	Het
Chad	A	C	11: 94,565,702	D202A	probably damaging	Het
Chil6	A	G	3: 106,388,672		probably benign	Het
Cpz	T	C	5: 35,517,404	E167G	possibly damaging	Het
Crisp2	T	G	17: 40,765,268	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,021,699	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,479,767	L49H	probably damaging	Het
Dnah6	T	A	6: 73,053,689	H3380L	probably benign	Het
Dnm2	A	G	9: 21,504,533	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,316,760	T15K	probably benign	Het
Dock3	A	T	9: 106,991,155	D643E	probably damaging	Het
Ear6	C	T	14: 51,854,116	T40I	possibly damaging	Het
Fancm	A	G	12: 65,090,974	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,438,347	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,306,730	E393D	probably benign	Het
Fryl	T	A	5: 73,089,130	M1100L	probably benign	Het
Gjc1	T	C	11: 102,800,421	H252R	probably damaging	Het
Gm10518	T	C	1: 179,803,912		probably benign	Het
Gna14	A	G	19: 16,603,292	M165V	probably benign	Het
Hells	C	A	19: 38,935,522	Q72K	probably damaging	Het
Herc1	A	G	9: 66,484,902	I4031V	probably benign	Het
Hspa2	C	T	12: 76,405,987	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,193,818	I70F	probably benign	Het
Il20rb	A	T	9: 100,461,539		probably benign	Het
Krt1	C	A	15: 101,845,941	V625L	unknown	Het
Lamc3	T	C	2: 31,940,736	I1495T	probably benign	Het
Larp6	A	G	9: 60,737,780	E401G	possibly damaging	Het
Ldha	A	T	7: 46,847,381	H19L	probably benign	Het
Lrba	A	G	3: 86,285,028	N83S	probably damaging	Het
Lrp4	G	T	2: 91,485,886	R783L	probably benign	Het
Lrrk2	T	G	15: 91,803,389	I2227S	probably benign	Het
Lvrn	T	C	18: 46,880,736	L495P	probably damaging	Het
Macf1	T	C	4: 123,497,755	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,241,230	T425A	probably damaging	Het
Mcam	A	G	9: 44,136,566	E36G	probably damaging	Het
Meis1	T	A	11: 19,016,308	T22S	probably benign	Het
Micu1	A	G	10: 59,863,254	K451R	possibly damaging	Het
Mrvi1	A	G	7: 110,888,029	V498A	probably damaging	Het
Nat8	A	T	6: 85,830,523	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,716,410	R56*	probably null	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1002	T	C	2: 85,647,572	I250V	probably benign	Het
Olfr1408	A	G	1: 173,130,959	V86A	probably benign	Het
Olfr1451	A	T	19: 12,999,831	T282S	probably benign	Het
Olfr192	G	A	16: 59,098,977	T5I	probably damaging	Het
Palm3	A	T	8: 84,027,079	R132*	probably null	Het
Pax2	A	G	19: 44,816,040	Y272C	probably damaging	Het
Phc2	G	A	4: 128,723,115	A394T	probably benign	Het
Phf2	C	A	13: 48,807,722	G831C	unknown	Het
Pik3c2b	G	A	1: 133,099,715		probably null	Het
Plin2	T	A	4: 86,661,991	I178F	probably benign	Het
Prdm14	T	A	1: 13,122,631	I295F	probably damaging	Het
Psmd5	C	T	2: 34,870,783	R47H	probably benign	Het
Ptchd3	T	A	11: 121,842,516	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,776,545		probably benign	Het
Rab6a	A	G	7: 100,628,420	D49G	probably damaging	Het
Radil	A	T	5: 142,485,239	D1062E	probably benign	Het
Robo2	A	G	16: 74,352,838	V34A	possibly damaging	Het
Sall3	G	A	18: 80,971,411	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,068,101	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,244,166	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,689,751	V406A	probably damaging	Het
Sf3b3	T	C	8: 110,813,669	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,979,435	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,843,046	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,583,283	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,198,258	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,719,882	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Slc6a12	A	G	6: 121,355,322	D205G	probably benign	Het
Tas2r115	G	A	6: 132,737,161	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,797,011	I205N	probably damaging	Het
Tfeb	C	T	17: 47,785,979	T33I	probably benign	Het
Tgm3	A	G	2: 130,048,320	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,260	V201A	probably benign	Het
Tpcn1	T	A	5: 120,556,531	M158L	probably benign	Het
Trim47	A	C	11: 116,106,092	L612R	probably damaging	Het
Trmt10c	A	T	16: 56,034,075	L399*	probably null	Het
Trpm2	A	T	10: 77,917,792	S1293T	probably benign	Het
Ttn	C	T	2: 76,752,597	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,806,123	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,419,121	E565K	probably damaging	Het
Vmn2r97	T	C	17: 18,947,299	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,776,264	V399A	probably damaging	Het
Wdr63	T	A	3: 146,083,065	K254*	probably null	Het
Wnk4	G	A	11: 101,268,281	R508Q	probably damaging	Het
Zfp217	A	G	2: 170,119,210	V399A	probably damaging	Het
Zfp616	T	A	11: 74,084,004	N457K	possibly damaging	Het

Other mutations in Alas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Alas1	APN	9	106236472	missense	probably benign	0.17
IGL02165:Alas1	APN	9	106238783	missense	probably damaging	1.00
IGL02355:Alas1	APN	9	106236639	missense	probably damaging	1.00
IGL02362:Alas1	APN	9	106236639	missense	probably damaging	1.00
IGL02499:Alas1	APN	9	106241321	missense	probably damaging	1.00
IGL02606:Alas1	APN	9	106241110	unclassified	probably benign
IGL03121:Alas1	APN	9	106246914	missense	probably damaging	0.99
R0115:Alas1	UTSW	9	106238252	splice site	probably null
R0294:Alas1	UTSW	9	106241256	missense	probably damaging	1.00
R0333:Alas1	UTSW	9	106241281	missense	probably benign	0.08
R0346:Alas1	UTSW	9	106243351	missense	possibly damaging	0.78
R1700:Alas1	UTSW	9	106239646	missense	possibly damaging	0.46
R1982:Alas1	UTSW	9	106238185	missense	probably damaging	1.00
R2056:Alas1	UTSW	9	106241290	missense	probably damaging	1.00
R2058:Alas1	UTSW	9	106241290	missense	probably damaging	1.00
R2059:Alas1	UTSW	9	106241290	missense	probably damaging	1.00
R2355:Alas1	UTSW	9	106236474	missense	probably damaging	0.96
R2516:Alas1	UTSW	9	106238660	missense	probably damaging	1.00
R3896:Alas1	UTSW	9	106241801	splice site	probably null
R4091:Alas1	UTSW	9	106241801	splice site	probably null
R4093:Alas1	UTSW	9	106241801	splice site	probably null
R4095:Alas1	UTSW	9	106241801	splice site	probably null
R4673:Alas1	UTSW	9	106236477	missense	probably damaging	1.00
R5165:Alas1	UTSW	9	106241255	missense	probably damaging	1.00
R5215:Alas1	UTSW	9	106243375	missense	probably benign	0.05
R5420:Alas1	UTSW	9	106234159	missense	probably benign	0.13
R5993:Alas1	UTSW	9	106234129	missense	probably benign	0.11
R6033:Alas1	UTSW	9	106241204	missense	probably damaging	1.00
R6033:Alas1	UTSW	9	106241204	missense	probably damaging	1.00
R7489:Alas1	UTSW	9	106241634	critical splice donor site	probably null
R7726:Alas1	UTSW	9	106246951	missense	probably benign	0.00
R8012:Alas1	UTSW	9	106246763	missense	probably benign
R8036:Alas1	UTSW	9	106235522	missense	probably benign	0.19
R8353:Alas1	UTSW	9	106236522	missense	possibly damaging	0.83
R8453:Alas1	UTSW	9	106236522	missense	possibly damaging	0.83
Z1176:Alas1	UTSW	9	106238769	missense	probably benign	0.42
Z1176:Alas1	UTSW	9	106243367	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATCCTGATGGAGTAAGGCC -3'
(R):5'- TTTACTGAGCCCCATGTTGG -3'

Sequencing Primer
(F):5'- ATGGAGTAAGGCCCCCTCATAG -3'
(R):5'- CCCATGTTGGCACTGTACTTAG -3'

Posted On

2016-04-27