Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01911:Dram1'

179813

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dram1

Ensembl Gene

ENSMUSG00000020057

Gene Name

DNA-damage regulated autophagy modulator 1

Synonyms

1200002N14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01911

Quality Score

Status

Chromosome

Chromosomal Location

88158663-88200218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88161203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 222 (D222G)

Ref Sequence

ENSEMBL: ENSMUSP00000020249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020249] [ENSMUST00000156097]

AlphaFold

Q9DC58

Predicted Effect

probably damaging
Transcript: ENSMUST00000020249
AA Change: D222G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020249
Gene: ENSMUSG00000020057
AA Change: D222G

Domain	Start	End	E-Value	Type
Pfam:Frag1	7	226	8.8e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156097

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	T	C	1: 58,191,719 (GRCm39)	F424L	probably benign	Het
Arhgap11a	T	C	2: 113,671,077 (GRCm39)	T301A	probably damaging	Het
Atp9a	C	A	2: 168,495,481 (GRCm39)	R575L	probably damaging	Het
Brca2	G	A	5: 150,491,078 (GRCm39)	D3088N	probably damaging	Het
Brd3	G	A	2: 27,349,812 (GRCm39)	T247I	probably damaging	Het
Btbd8	A	G	5: 107,656,446 (GRCm39)	H903R	probably damaging	Het
Cacna1i	A	G	15: 80,275,933 (GRCm39)	N1908S	probably benign	Het
Ccdc40	A	T	11: 119,122,797 (GRCm39)		probably null	Het
Cdyl	T	C	13: 36,047,226 (GRCm39)	V389A	probably damaging	Het
Col28a1	A	G	6: 8,014,963 (GRCm39)	F814S	probably damaging	Het
Cstf3	T	C	2: 104,476,976 (GRCm39)	F149S	probably damaging	Het
Dglucy	T	C	12: 100,804,784 (GRCm39)	Y122H	probably damaging	Het
Ets2	G	A	16: 95,512,802 (GRCm39)	R96H	probably damaging	Het
Gm11563	T	A	11: 99,549,527 (GRCm39)	R76*	probably null	Het
Gm17093	A	C	14: 44,758,277 (GRCm39)		probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gpi1	A	T	7: 33,920,347 (GRCm39)	V136D	probably damaging	Het
Hfm1	G	A	5: 107,059,410 (GRCm39)	T204M	possibly damaging	Het
Itgae	T	C	11: 73,006,963 (GRCm39)	I403T	probably damaging	Het
Krt75	A	T	15: 101,476,537 (GRCm39)	D409E	probably damaging	Het
Limk2	T	G	11: 3,305,340 (GRCm39)	T76P	probably benign	Het
Mtus2	A	T	5: 148,015,030 (GRCm39)	M608L	probably benign	Het
Obscn	C	A	11: 58,899,421 (GRCm39)	E979*	probably null	Het
Or52ab7	T	G	7: 102,978,480 (GRCm39)	F262L	probably benign	Het
P2rx7	C	T	5: 122,796,831 (GRCm39)	A166V	probably damaging	Het
Pomgnt2	T	C	9: 121,811,854 (GRCm39)	E309G	probably benign	Het
Sbno2	A	T	10: 79,905,458 (GRCm39)	Y199*	probably null	Het
Setd2	C	A	9: 110,446,499 (GRCm39)		probably null	Het
Slc66a1	A	G	4: 139,028,384 (GRCm39)	V186A	probably benign	Het
Vmn2r84	T	A	10: 130,222,277 (GRCm39)	I648F	probably damaging	Het
Vrtn	C	T	12: 84,696,980 (GRCm39)	R577W	probably benign	Het
Znhit6	A	G	3: 145,283,853 (GRCm39)		probably benign	Het

Other mutations in Dram1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02808:Dram1	APN	10	88,172,786 (GRCm39)	missense	probably damaging	1.00
R1076:Dram1	UTSW	10	88,161,246 (GRCm39)	missense	probably damaging	0.96
R1430:Dram1	UTSW	10	88,160,641 (GRCm39)	missense	possibly damaging	0.50
R4662:Dram1	UTSW	10	88,161,246 (GRCm39)	missense	probably damaging	0.96
R5601:Dram1	UTSW	10	88,160,629 (GRCm39)	missense	probably damaging	0.96
R7396:Dram1	UTSW	10	88,176,507 (GRCm39)	missense	probably benign	0.45
R7881:Dram1	UTSW	10	88,160,609 (GRCm39)	missense	probably benign	0.00
R9449:Dram1	UTSW	10	88,192,703 (GRCm39)	missense	probably benign	0.38

Posted On

2014-05-07