Mutagenetix > Incidental Mutation

Incidental Mutation 'R4410:Ddias'

327859

Institutional Source

Beutler Lab

Gene Symbol

Ddias

Ensembl Gene

ENSMUSG00000030641

Gene Name

DNA damage-induced apoptosis suppressor

Synonyms

noxin, 4632434I11Rik

MMRRC Submission

041692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92857525-92874247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92858079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 876 (L876P)

Ref Sequence

ENSEMBL: ENSMUSP00000032877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032877] [ENSMUST00000208356] [ENSMUST00000209074]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032877
AA Change: L876P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: L876P

Domain	Start	End	E-Value	Type
Pfam:Rep_fac-A_C	7	118	2.1e-14	PFAM
low complexity region	197	209	N/A	INTRINSIC
low complexity region	242	253	N/A	INTRINSIC
low complexity region	727	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000208356

Predicted Effect

probably benign
Transcript: ENSMUST00000209074

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,725,512		probably benign	Het
Arrb1	G	T	7: 99,598,296		probably benign	Het
Cadps	A	G	14: 12,822,323	M139T	probably damaging	Het
Casr	A	G	16: 36,500,341	C482R	probably benign	Het
Cdca4	A	T	12: 112,821,879	H76Q	probably benign	Het
Dnah9	T	C	11: 66,085,477	S1249G	possibly damaging	Het
Dnttip1	A	G	2: 164,767,819		probably benign	Het
Eme2	A	G	17: 24,893,624	S160P	probably benign	Het
Fbxw24	A	T	9: 109,608,188	D210E	probably damaging	Het
Folr2	T	C	7: 101,840,674	E129G	probably damaging	Het
Gm7682	A	T	5: 94,445,861	Q15L	probably benign	Het
Herc6	T	A	6: 57,659,679	N793K	possibly damaging	Het
Iqcg	T	G	16: 33,030,816	K262Q	possibly damaging	Het
Lhfpl3	A	G	5: 22,775,692		probably benign	Het
Lmod2	A	C	6: 24,604,630	S535R	probably damaging	Het
Lrp1b	T	A	2: 40,665,082	S342C	possibly damaging	Het
Lrrn3	T	A	12: 41,452,584	Y578F	possibly damaging	Het
Map3k4	T	A	17: 12,248,998	R1050W	probably damaging	Het
Mpp6	C	T	6: 50,198,268	Q520*	probably null	Het
Muc6	T	A	7: 141,637,663	T2301S	possibly damaging	Het
Mycbp2	T	C	14: 103,135,266	E4048G	probably damaging	Het
Myh3	G	C	11: 67,085,032	E297Q	possibly damaging	Het
Nkain3	A	G	4: 20,778,284	V11A	probably benign	Het
Olfr1189	G	A	2: 88,592,421	V206I	probably benign	Het
P3h2	G	C	16: 26,105,290	R132G	possibly damaging	Het
Phgdh	A	G	3: 98,314,275	M447T	probably benign	Het
Pmfbp1	G	A	8: 109,532,063	A667T	probably benign	Het
Psmd2	T	G	16: 20,655,026	C230G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Slc37a3	T	A	6: 39,338,813	Y443F	probably benign	Het
Sorl1	C	A	9: 42,003,992	G1314*	probably null	Het
Spag7	T	C	11: 70,664,862	D83G	probably damaging	Het
St7	C	T	6: 17,854,933	R267*	probably null	Het
Syne2	C	T	12: 76,094,393	S99L	probably damaging	Het
Tacc2	T	G	7: 130,742,211	S2533R	possibly damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Uaca	T	G	9: 60,869,891	V518G	probably damaging	Het
Usp43	T	C	11: 67,855,890	E992G	probably benign	Het
Vmn1r55	A	G	7: 5,147,076	V116A	probably benign	Het
Wdr3	G	A	3: 100,140,227	T844M	probably benign	Het
Wdr7	T	A	18: 63,778,249	M904K	probably damaging	Het
Zbtb39	A	G	10: 127,742,827	I423M	possibly damaging	Het
Zmym1	A	T	4: 127,048,104	C830*	probably null	Het

Other mutations in Ddias

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02727:Ddias	APN	7	92866622	missense	probably damaging	0.98
IGL02820:Ddias	APN	7	92859343	missense	probably benign	0.07
I0000:Ddias	UTSW	7	92866640	missense	possibly damaging	0.69
R0094:Ddias	UTSW	7	92859900	missense	possibly damaging	0.61
R0482:Ddias	UTSW	7	92859528	missense	probably benign	0.41
R0883:Ddias	UTSW	7	92859337	missense	probably benign
R1131:Ddias	UTSW	7	92859886	missense	possibly damaging	0.92
R1722:Ddias	UTSW	7	92860042	missense	possibly damaging	0.63
R1758:Ddias	UTSW	7	92859363	missense	probably benign	0.03
R1937:Ddias	UTSW	7	92858622	missense	probably benign	0.07
R2067:Ddias	UTSW	7	92859699	missense	possibly damaging	0.79
R2124:Ddias	UTSW	7	92858256	missense	probably benign	0.00
R2483:Ddias	UTSW	7	92859592	missense	probably benign	0.13
R3623:Ddias	UTSW	7	92859592	missense	probably benign	0.13
R3690:Ddias	UTSW	7	92860158	missense	probably benign	0.24
R4015:Ddias	UTSW	7	92859861	missense	probably benign	0.06
R4021:Ddias	UTSW	7	92861478	missense	possibly damaging	0.57
R4022:Ddias	UTSW	7	92861478	missense	possibly damaging	0.57
R4384:Ddias	UTSW	7	92858223	missense	probably damaging	0.98
R4691:Ddias	UTSW	7	92858816	missense	probably damaging	0.99
R5653:Ddias	UTSW	7	92858729	missense	probably damaging	1.00
R6666:Ddias	UTSW	7	92858081	missense	probably benign
R6853:Ddias	UTSW	7	92859565	missense	possibly damaging	0.46
R7650:Ddias	UTSW	7	92858935	missense	probably benign	0.00
R8446:Ddias	UTSW	7	92866610	missense	probably damaging	1.00
R8480:Ddias	UTSW	7	92859400	missense	probably benign	0.01
R8753:Ddias	UTSW	7	92859460	missense	probably damaging	1.00
R9138:Ddias	UTSW	7	92858400	missense	possibly damaging	0.63
R9336:Ddias	UTSW	7	92858106	missense	possibly damaging	0.91
R9554:Ddias	UTSW	7	92858352	missense	probably benign	0.22
X0027:Ddias	UTSW	7	92858995	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TATTCTGAAAAGCCATCCCCAACTG -3'
(R):5'- TATGAAGCCACCTCAGCCTG -3'

Sequencing Primer
(F):5'- AACTGGGCTTTTCCTATTTTCAG -3'
(R):5'- TCAGCCTGCTCAAAGAATGTAAAAG -3'

Posted On

2015-07-07