Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01783:Dram2'

154188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dram2

Ensembl Gene

ENSMUSG00000027900

Gene Name

DNA-damage regulated autophagy modulator 2

Synonyms

2610318G18Rik, Tmem77, 2010305N14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01783

Quality Score

Status

Chromosome

Chromosomal Location

106455114-106482657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106480972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 172 (T172S)

Ref Sequence

ENSEMBL: ENSMUSP00000029507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029507] [ENSMUST00000067630] [ENSMUST00000121034] [ENSMUST00000132923] [ENSMUST00000151465]

AlphaFold

Q9CR48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029507
AA Change: T172S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029507
Gene: ENSMUSG00000027900
AA Change: T172S

Domain	Start	End	E-Value	Type
Pfam:Frag1	7	120	2.6e-30	PFAM
transmembrane domain	121	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067630
AA Change: T259S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000063510
Gene: ENSMUSG00000027900
AA Change: T259S

Domain	Start	End	E-Value	Type
Pfam:Frag1	7	233	1.3e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121034
AA Change: T259S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112680
Gene: ENSMUSG00000027900
AA Change: T259S

Domain	Start	End	E-Value	Type
Pfam:Frag1	7	233	7.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132923

SMART Domains

Protein: ENSMUSP00000118686
Gene: ENSMUSG00000027900

Domain	Start	End	E-Value	Type
Pfam:Frag1	7	165	3.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151465

SMART Domains

Protein: ENSMUSP00000117078
Gene: ENSMUSG00000027900

Domain	Start	End	E-Value	Type
Pfam:Frag1	7	144	1.5e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197233

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 10,037,900 (GRCm39)	Y166H	possibly damaging	Het
Abi3bp	G	A	16: 56,353,332 (GRCm39)		probably null	Het
Actrt3	T	C	3: 30,652,624 (GRCm39)	T157A	probably benign	Het
Adam26b	T	C	8: 43,974,798 (GRCm39)	K68R	probably benign	Het
Adgrg7	A	G	16: 56,568,282 (GRCm39)		probably null	Het
Ano6	T	C	15: 95,860,143 (GRCm39)	I755T	possibly damaging	Het
Basp1	T	C	15: 25,364,953 (GRCm39)	N15D	unknown	Het
Bod1l	T	C	5: 41,966,055 (GRCm39)	N2670S	probably benign	Het
Btbd3	T	A	2: 138,125,656 (GRCm39)	I280N	probably damaging	Het
Cdh16	T	A	8: 105,344,488 (GRCm39)	Y17F	probably damaging	Het
Clmp	G	T	9: 40,693,703 (GRCm39)	G307W	possibly damaging	Het
Clrn2	C	A	5: 45,617,503 (GRCm39)	Q125K	probably benign	Het
Ctnna3	C	T	10: 63,656,248 (GRCm39)	A276V	possibly damaging	Het
Dync2h1	G	A	9: 7,118,822 (GRCm39)		probably benign	Het
Ezr	T	C	17: 7,009,888 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,275,257 (GRCm39)	D352E	probably damaging	Het
Gbe1	T	C	16: 70,198,743 (GRCm39)		probably null	Het
Gpr18	T	A	14: 122,149,789 (GRCm39)	M79L	probably benign	Het
Gss	T	C	2: 155,413,479 (GRCm39)	Y196C	probably damaging	Het
Gtpbp1	T	C	15: 79,600,398 (GRCm39)	S444P	probably damaging	Het
Hecw1	C	T	13: 14,452,878 (GRCm39)	R712K	probably damaging	Het
Helz2	T	G	2: 180,874,674 (GRCm39)	D1940A	probably damaging	Het
Hmcn1	A	T	1: 150,491,051 (GRCm39)	V4166E	possibly damaging	Het
Klkb1	T	C	8: 45,729,428 (GRCm39)	Y297C	probably damaging	Het
Krt75	T	A	15: 101,473,364 (GRCm39)	I537F	probably benign	Het
Lrp1b	T	A	2: 41,202,584 (GRCm39)	T1176S	probably damaging	Het
Nid2	T	C	14: 19,818,745 (GRCm39)	L413P	probably benign	Het
Or10ag57	T	A	2: 87,218,187 (GRCm39)	M46K	possibly damaging	Het
Or10ag57	G	T	2: 87,218,182 (GRCm39)	L44F	probably benign	Het
Or4c11	T	C	2: 88,695,186 (GRCm39)	L79P	probably damaging	Het
Or5t7	A	G	2: 86,507,425 (GRCm39)	V84A	probably benign	Het
Piwil1	A	G	5: 128,820,890 (GRCm39)	N272D	probably benign	Het
Ppfia3	T	C	7: 45,009,481 (GRCm39)		probably null	Het
Prkg1	A	G	19: 30,602,089 (GRCm39)	V389A	probably damaging	Het
Sema3a	C	A	5: 13,611,767 (GRCm39)	S344R	probably damaging	Het
Serpina3j	T	C	12: 104,284,750 (GRCm39)	L309P	probably damaging	Het
Slc15a1	A	G	14: 121,708,688 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,759 (GRCm39)	A205S	probably benign	Het
Speer4a1	T	A	5: 26,240,045 (GRCm39)	Q235L	possibly damaging	Het
St6gal1	A	G	16: 23,140,305 (GRCm39)	T159A	probably benign	Het
Tbrg1	G	T	9: 37,565,596 (GRCm39)	P119T	possibly damaging	Het
Tmem59l	T	C	8: 70,939,874 (GRCm39)	T32A	probably damaging	Het
Trmt13	G	A	3: 116,376,561 (GRCm39)	R277*	probably null	Het
Zfp316	A	G	5: 143,248,631 (GRCm39)	F205S	unknown	Het
Zfp418	G	T	7: 7,184,448 (GRCm39)	W137L	possibly damaging	Het
Zp3r	A	T	1: 130,526,603 (GRCm39)	V200D	possibly damaging	Het

Other mutations in Dram2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Dram2	APN	3	106,478,950 (GRCm39)	missense	probably benign	0.07
IGL01316:Dram2	APN	3	106,480,296 (GRCm39)	missense	possibly damaging	0.90
IGL01519:Dram2	APN	3	106,478,945 (GRCm39)	missense	possibly damaging	0.95
IGL02141:Dram2	APN	3	106,479,012 (GRCm39)	unclassified	probably benign
IGL03153:Dram2	APN	3	106,462,490 (GRCm39)	utr 5 prime	probably benign
IGL03047:Dram2	UTSW	3	106,480,345 (GRCm39)	missense	probably damaging	1.00
R0045:Dram2	UTSW	3	106,478,133 (GRCm39)	missense	possibly damaging	0.51
R0045:Dram2	UTSW	3	106,478,133 (GRCm39)	missense	possibly damaging	0.51
R0400:Dram2	UTSW	3	106,480,934 (GRCm39)	missense	probably damaging	1.00
R1432:Dram2	UTSW	3	106,478,082 (GRCm39)	missense	possibly damaging	0.65
R2130:Dram2	UTSW	3	106,478,076 (GRCm39)	missense	possibly damaging	0.72
R4361:Dram2	UTSW	3	106,473,531 (GRCm39)	intron	probably benign
R4771:Dram2	UTSW	3	106,480,361 (GRCm39)	missense	probably damaging	1.00
R4781:Dram2	UTSW	3	106,478,992 (GRCm39)	missense	probably damaging	1.00
R7230:Dram2	UTSW	3	106,480,294 (GRCm39)	nonsense	probably null
R7441:Dram2	UTSW	3	106,462,503 (GRCm39)	missense	probably damaging	1.00
R7464:Dram2	UTSW	3	106,480,999 (GRCm39)	makesense	probably null

Posted On

2014-02-04