Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03047:Dram2'

392219

Institutional Source

Beutler Lab

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 #

IGL03047 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106455114-106482657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106480345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 219 (F219L)

Ref Sequence

ENSEMBL: ENSMUSP00000112680 (fasta)

Gene Model

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

AlphaFold

Q9CR48

Predicted Effect

probably benign
Transcript: ENSMUST00000029507
AA Change: F132L

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029507
Gene: ENSMUSG00000027900
AA Change: F132L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067630
AA Change: F219L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000063510
Gene: ENSMUSG00000027900
AA Change: F219L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121034
AA Change: F219L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112680
Gene: ENSMUSG00000027900
AA Change: F219L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,246,568 (GRCm39)	H21Q	possibly damaging	Het
4933427D14Rik	A	G	11: 72,057,552 (GRCm39)	I749T	possibly damaging	Het
Adam22	A	G	5: 8,132,220 (GRCm39)	S869P	probably damaging	Het
Add3	A	G	19: 53,231,022 (GRCm39)	T566A	probably benign	Het
Asic3	A	C	5: 24,618,788 (GRCm39)	M27L	probably benign	Het
Atp2c1	T	A	9: 105,398,206 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,535,934 (GRCm39)		probably benign	Het
Ccr7	C	T	11: 99,036,160 (GRCm39)	R254H	probably benign	Het
Cdk2ap1	G	T	5: 124,486,753 (GRCm39)	A63E	possibly damaging	Het
Cfap70	T	C	14: 20,498,646 (GRCm39)	T14A	possibly damaging	Het
Cldn11	T	A	3: 31,217,256 (GRCm39)	F141L	probably damaging	Het
Comp	G	T	8: 70,827,559 (GRCm39)	A107S	possibly damaging	Het
Cyp2b23	A	T	7: 26,380,892 (GRCm39)		probably benign	Het
Cyp2c68	T	G	19: 39,722,904 (GRCm39)	I215L	probably benign	Het
Cyp4f17	T	A	17: 32,743,023 (GRCm39)	I232K	possibly damaging	Het
Fam186a	G	A	15: 99,843,589 (GRCm39)	A885V	unknown	Het
Fbxo42	A	G	4: 140,926,853 (GRCm39)	T378A	possibly damaging	Het
Frmpd1	T	A	4: 45,283,993 (GRCm39)	V938E	probably damaging	Het
Gramd1c	C	A	16: 43,808,610 (GRCm39)	L489F	probably damaging	Het
Il17ra	T	C	6: 120,458,187 (GRCm39)	I446T	probably damaging	Het
Il36g	G	A	2: 24,082,719 (GRCm39)	A165T	probably damaging	Het
Kcne4	G	T	1: 78,795,495 (GRCm39)	V48F	possibly damaging	Het
Ly6g6c	T	A	17: 35,288,325 (GRCm39)		probably null	Het
Mars2	A	G	1: 55,278,032 (GRCm39)	Y545C	probably benign	Het
Mmp12	T	G	9: 7,357,797 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,930,409 (GRCm39)		probably benign	Het
Nop14	C	T	5: 34,817,358 (GRCm39)	R11K	possibly damaging	Het
Npas3	T	A	12: 53,878,470 (GRCm39)		probably benign	Het
Odf2	A	T	2: 29,810,907 (GRCm39)		probably benign	Het
Or2y1d	A	G	11: 49,321,794 (GRCm39)	M164V	probably benign	Het
Or5p73	T	C	7: 108,064,983 (GRCm39)	S151P	probably damaging	Het
Or5w16	A	G	2: 87,577,338 (GRCm39)	Y266C	possibly damaging	Het
Or6s1	A	G	14: 51,308,613 (GRCm39)	I79T	possibly damaging	Het
Otud7b	T	C	3: 96,058,301 (GRCm39)		probably benign	Het
Plcg1	T	C	2: 160,596,799 (GRCm39)	Y747H	probably damaging	Het
Runx1t1	G	A	4: 13,865,882 (GRCm39)	V357I	probably damaging	Het
Seh1l	C	G	18: 67,922,520 (GRCm39)	T291R	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Sulf2	G	T	2: 165,922,814 (GRCm39)		probably null	Het
Tent4a	C	A	13: 69,651,030 (GRCm39)	D369Y	probably damaging	Het
Tex14	C	T	11: 87,427,530 (GRCm39)	S1174F	probably damaging	Het
Tm9sf4	A	G	2: 153,003,326 (GRCm39)		probably benign	Het
Vmn2r7	G	A	3: 64,614,639 (GRCm39)	H392Y	possibly damaging	Het
Zfhx4	T	A	3: 5,308,793 (GRCm39)	V673D	probably 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
IGL01783:Dram2	APN	3	106,480,972 (GRCm39)	missense	possibly damaging	0.91
IGL02141:Dram2	APN	3	106,479,012 (GRCm39)	unclassified	probably benign
IGL03153:Dram2	APN	3	106,462,490 (GRCm39)	utr 5 prime	probably benign
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

Predicted Primers

PCR Primer
(F):5'- AGTAGCTACTGCAATTCTCAAGAC -3'
(R):5'- GCTTACTTGCAGCACACAAC -3'

Sequencing Primer
(F):5'- GCTACTGCAATTCTCAAGACATGTTC -3'
(R):5'- TCAAACCCAGGAATAATTTTACCAG -3'

Posted On

2016-06-09