Mutagenetix > Incidental Mutation

Incidental Mutation 'R2056:Alas1'

228201

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

040061-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2056 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adh1	A	G	3: 137,992,676 (GRCm39)	D264G	probably damaging	Het
Ahnak2	T	A	12: 112,748,626 (GRCm39)	D407V	probably benign	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,809,553 (GRCm39)	I662V	possibly damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apc	A	G	18: 34,449,481 (GRCm39)	R2092G	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Brap	G	A	5: 121,801,529 (GRCm39)	G95S	probably damaging	Het
Cbfa2t2	G	A	2: 154,377,077 (GRCm39)	A587T	probably damaging	Het
Ccdc180	A	G	4: 45,932,477 (GRCm39)	I1308V	probably benign	Het
Ccser1	T	A	6: 61,399,936 (GRCm39)		probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Cntln	G	A	4: 84,967,911 (GRCm39)	R710K	probably benign	Het
Csn1s1	A	T	5: 87,819,387 (GRCm39)	T15S	possibly damaging	Het
Cul9	T	C	17: 46,854,298 (GRCm39)	T135A	probably benign	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dhx38	G	T	8: 110,289,352 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,336,251 (GRCm39)	I85N	possibly damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dscaml1	A	G	9: 45,661,430 (GRCm39)	D1776G	probably damaging	Het
Erbin	A	G	13: 103,966,824 (GRCm39)	S1209P	probably benign	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fbxo45	G	T	16: 32,057,346 (GRCm39)	Q183K	possibly damaging	Het
Frmd4b	C	T	6: 97,389,448 (GRCm39)		probably null	Het
Fzd7	A	G	1: 59,523,361 (GRCm39)	S415G	probably benign	Het
Gpd2	T	A	2: 57,229,025 (GRCm39)		probably null	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gstcd	T	C	3: 132,787,814 (GRCm39)	I295V	probably benign	Het
Gucy1a1	A	G	3: 82,016,592 (GRCm39)	L132P	possibly damaging	Het
Il12b	A	C	11: 44,298,727 (GRCm39)	T61P	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Itih3	A	C	14: 30,631,481 (GRCm39)		probably null	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Kif11	A	G	19: 37,390,660 (GRCm39)	N408D	probably benign	Het
Kng2	TATGACCATGACCATGACCATGACCATGACCATGACCAT	TATGACCATGACCATGACCATGACCATGACCAT	16: 22,806,703 (GRCm39)		probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Krt9	G	T	11: 100,082,321 (GRCm39)	N201K	probably damaging	Het
Lmbr1	G	A	5: 29,438,092 (GRCm39)	P304L	probably benign	Het
Lrrfip1	A	G	1: 91,043,539 (GRCm39)	N648S	probably benign	Het
Mab21l3	C	A	3: 101,722,469 (GRCm39)	V386L	possibly damaging	Het
Mamdc4	T	C	2: 25,454,180 (GRCm39)	Q1149R	probably benign	Het
Mast1	A	G	8: 85,646,995 (GRCm39)	F677L	possibly damaging	Het
Mcoln3	A	G	3: 145,833,979 (GRCm39)	D173G	probably benign	Het
Mmrn1	C	T	6: 60,921,789 (GRCm39)	T82I	probably benign	Het
Mtcl2	C	T	2: 156,864,747 (GRCm39)	G1154S	probably benign	Het
Muc5ac	A	G	7: 141,345,772 (GRCm39)	T203A	probably benign	Het
Myo9b	T	C	8: 71,812,334 (GRCm39)	I2035T	possibly damaging	Het
Ndst3	T	C	3: 123,465,534 (GRCm39)	N146S	probably damaging	Het
Neu4	A	G	1: 93,950,172 (GRCm39)	T21A	possibly damaging	Het
Nos1ap	G	A	1: 170,155,215 (GRCm39)	L267F	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or3a4	A	T	11: 73,944,819 (GRCm39)	Y255*	probably null	Het
Or4p8	A	G	2: 88,727,105 (GRCm39)	F279L	probably damaging	Het
Phc1	T	C	6: 122,310,299 (GRCm39)	N136S	probably damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Psd2	A	G	18: 36,139,744 (GRCm39)	D596G	possibly damaging	Het
Psmc3	T	C	2: 90,888,433 (GRCm39)	F315L	probably benign	Het
Rerg	G	A	6: 137,034,878 (GRCm39)	T42I	probably benign	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Sap30	T	C	8: 57,940,282 (GRCm39)		probably null	Het
Scn2b	T	C	9: 45,036,815 (GRCm39)	Y108H	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb2	T	C	1: 107,451,543 (GRCm39)	V232A	probably damaging	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Slc27a4	T	C	2: 29,700,953 (GRCm39)	W320R	probably damaging	Het
Spmip4	T	C	6: 50,550,725 (GRCm39)	R575G	possibly damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thbs4	T	A	13: 92,927,387 (GRCm39)	D34V	probably benign	Het
Tlcd4	T	G	3: 121,001,070 (GRCm39)	I188L	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmod2	T	C	9: 75,484,524 (GRCm39)	E248G	probably benign	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ttn	T	C	2: 76,615,882 (GRCm39)	D8360G	possibly damaging	Het
Unc80	A	G	1: 66,679,711 (GRCm39)	E2094G	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,160 (GRCm39)	D321E	probably 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
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'- AAGTCCTGCCAAATAACGCCTG -3'
(R):5'- GTGTGCCACACATTCTAGTCC -3'

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

Posted On

2014-09-17