Mutagenetix > Incidental Mutation

Incidental Mutation 'R2059:Alas1'

228482

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

040064-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106110654-106125153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106118489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 211 (E211G)

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 benign
Transcript: ENSMUST00000074082
AA Change: E211G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000073725
Gene: ENSMUSG00000032786
AA Change: E211G

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: E211G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108143
Gene: ENSMUSG00000032786
AA Change: E211G

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 benign
Transcript: ENSMUST00000141118
AA Change: E211G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000117014
Gene: ENSMUSG00000032786
AA Change: E211G

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 damaging
Transcript: ENSMUST00000219129
AA Change: E211G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219340

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

probably benign
Transcript: ENSMUST00000214989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214249

Meta Mutation Damage Score

0.0879

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (99/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	G	A	5: 30,404,489 (GRCm39)	H316Y	possibly damaging	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ak5	T	A	3: 152,366,274 (GRCm39)	L42F	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,714,506 (GRCm39)	V118A	probably benign	Het
Ano1	G	C	7: 144,165,127 (GRCm39)	L641V	probably damaging	Het
Arfgef1	C	T	1: 10,258,977 (GRCm39)		probably null	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atf7ip	T	G	6: 136,586,346 (GRCm39)		probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Baz2a	T	A	10: 127,949,447 (GRCm39)	S347R	probably damaging	Het
C2cd3	T	C	7: 100,104,700 (GRCm39)		probably benign	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Cdh12	T	A	15: 21,583,826 (GRCm39)	N555K	probably benign	Het
Cenpj	G	A	14: 56,801,412 (GRCm39)	P187L	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,778,841 (GRCm39)		probably benign	Het
Cgref1	T	G	5: 31,090,989 (GRCm39)	D275A	possibly damaging	Het
Clgn	A	C	8: 84,126,607 (GRCm39)	N103H	probably benign	Het
Corin	A	G	5: 72,473,394 (GRCm39)	V905A	possibly damaging	Het
Csta1	A	C	16: 35,942,692 (GRCm39)	D72E	probably benign	Het
Cul5	A	T	9: 53,578,456 (GRCm39)	L44Q	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dync1i2	G	A	2: 71,080,197 (GRCm39)		probably null	Het
Enoph1	A	G	5: 100,207,078 (GRCm39)	D55G	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fhip2b	A	G	14: 70,822,489 (GRCm39)	V744A	possibly damaging	Het
Foxi2	G	T	7: 135,012,406 (GRCm39)	G98V	probably damaging	Het
Galr2	T	C	11: 116,173,765 (GRCm39)	S132P	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gm15446	C	T	5: 110,090,362 (GRCm39)	H205Y	probably damaging	Het
Gm21775	T	A	Y: 10,553,910 (GRCm39)	I153N	probably benign	Het
Grip1	A	G	10: 119,874,603 (GRCm39)	K789R	possibly damaging	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Herc2	T	A	7: 55,813,645 (GRCm39)	H2625Q	probably damaging	Het
Hoxc9	A	G	15: 102,892,555 (GRCm39)	D256G	probably benign	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Irf2	A	T	8: 47,260,380 (GRCm39)	N104I	probably damaging	Het
Kat6a	A	G	8: 23,429,321 (GRCm39)	N1559D	possibly damaging	Het
Kcnq4	G	T	4: 120,555,199 (GRCm39)	F661L	probably benign	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Khdrbs1	T	C	4: 129,619,514 (GRCm39)	E209G	probably damaging	Het
Lama3	A	T	18: 12,661,390 (GRCm39)	R2116S	probably damaging	Het
Mir124-2hg	C	A	3: 17,839,877 (GRCm39)	E65*	probably null	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msl3l2	T	A	10: 55,992,040 (GRCm39)	L255Q	probably damaging	Het
Mx1	T	A	16: 97,255,379 (GRCm39)	K225*	probably null	Het
Nf1	T	C	11: 79,447,549 (GRCm39)	V435A	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Nop2	T	A	6: 125,116,823 (GRCm39)	M359K	probably null	Het
Nox1	T	C	X: 132,995,993 (GRCm39)		probably benign	Het
Ogdhl	G	A	14: 32,054,841 (GRCm39)	R263K	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or2y16	T	A	11: 49,335,278 (GRCm39)	V200E	probably damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prl3a1	A	G	13: 27,454,127 (GRCm39)	D35G	probably benign	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptprk	T	A	10: 28,442,599 (GRCm39)	I893N	probably damaging	Het
Ptprz1	T	C	6: 22,986,322 (GRCm39)		probably benign	Het
Rab3c	A	G	13: 110,397,050 (GRCm39)	V72A	probably damaging	Het
Rbms2	A	G	10: 127,973,387 (GRCm39)	S251P	probably benign	Het
Rfwd3	A	G	8: 112,024,127 (GRCm39)	V65A	probably benign	Het
Rps6kl1	T	A	12: 85,186,397 (GRCm39)	Y211F	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Scg3	T	C	9: 75,572,998 (GRCm39)	D311G	probably damaging	Het
Sdk2	C	A	11: 113,745,158 (GRCm39)	M712I	probably damaging	Het
Serinc2	T	G	4: 130,154,578 (GRCm39)	Y158S	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Shroom3	A	T	5: 92,831,643 (GRCm39)	T40S	probably damaging	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc7a3	A	G	X: 100,124,373 (GRCm39)	V464A	probably benign	Het
Snd1	T	C	6: 28,745,206 (GRCm39)	F517S	probably damaging	Het
Spata13	A	C	14: 60,997,040 (GRCm39)	I1165L	possibly damaging	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Stat5b	A	T	11: 100,678,158 (GRCm39)	S652T	probably benign	Het
Stom	A	G	2: 35,206,037 (GRCm39)	S231P	probably damaging	Het
Sult1b1	A	G	5: 87,682,892 (GRCm39)	Y18H	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmem87a	A	T	2: 120,199,773 (GRCm39)	I457N	probably damaging	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,113,746 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Ust	A	G	10: 8,083,330 (GRCm39)	Y349H	probably damaging	Het
V1rd19	A	T	7: 23,703,259 (GRCm39)	M242L	probably benign	Het
Vmn1r33	T	A	6: 66,589,186 (GRCm39)	M123L	probably benign	Het
Vps13c	A	T	9: 67,768,115 (GRCm39)	K111N	probably damaging	Het
Vwa3a	A	G	7: 120,358,172 (GRCm39)	D81G	probably damaging	Het
Zfp318	G	A	17: 46,707,950 (GRCm39)	R336Q	probably damaging	Het
Zfp609	A	G	9: 65,611,716 (GRCm39)	S416P	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
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'- AAGTCCTGCCAAATAACGCCTG -3'
(R):5'- TGTGCCACACATTCTAGTCC -3'

Sequencing Primer
(F):5'- CTGCCAAATAACGCCTGTGGTAG -3'
(R):5'- AACCCAGGTCTGTCCTTA -3'

Posted On

2014-09-17