Mutagenetix > Incidental Mutation

Incidental Mutation 'R4691:Ddias'

354911

Institutional Source

Beutler Lab

Gene Symbol

Ddias

Ensembl Gene

ENSMUSG00000030641

Gene Name

DNA damage-induced apoptosis suppressor

Synonyms

4632434I11Rik, noxin

MMRRC Submission

041942-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4691 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92506734-92523455 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92508024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 630 (K630N)

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 damaging
Transcript: ENSMUST00000032877
AA Change: K630N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: K630N

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

0.1454

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,384,195 (GRCm39)	R3882S	probably damaging	Het
Adamts2	G	T	11: 50,647,523 (GRCm39)	V299F	probably damaging	Het
Ankrd50	A	G	3: 38,537,159 (GRCm39)	S65P	probably benign	Het
Ap4e1	T	C	2: 126,903,791 (GRCm39)	C898R	probably benign	Het
Arel1	A	T	12: 84,977,023 (GRCm39)		probably null	Het
Bag6	T	A	17: 35,358,224 (GRCm39)	V164D	probably damaging	Het
C2cd5	A	G	6: 142,975,874 (GRCm39)	S769P	possibly damaging	Het
Cables1	C	T	18: 11,973,580 (GRCm39)	Q240*	probably null	Het
Ccnb1-ps	T	A	7: 41,755,516 (GRCm39)		noncoding transcript	Het
Ccz1	A	T	5: 143,928,380 (GRCm39)	I390N	possibly damaging	Het
Ceacam23	T	A	7: 17,642,891 (GRCm39)	S434T	possibly damaging	Het
Ces1a	T	C	8: 93,759,287 (GRCm39)	H283R	probably benign	Het
Clca3b	G	A	3: 144,544,853 (GRCm39)	T378I	probably benign	Het
Cpne2	A	T	8: 95,284,849 (GRCm39)	I342F	probably damaging	Het
Cyp2d9	A	G	15: 82,340,033 (GRCm39)	D141G	probably damaging	Het
Dennd4b	A	G	3: 90,179,619 (GRCm39)	T626A	probably damaging	Het
Disc1	T	C	8: 125,875,186 (GRCm39)	V554A	possibly damaging	Het
Dnah10	A	G	5: 124,852,581 (GRCm39)	T1880A	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epop	C	T	11: 97,519,719 (GRCm39)	G130D	possibly damaging	Het
Erap1	T	C	13: 74,821,811 (GRCm39)	L722P	probably damaging	Het
Eya4	T	A	10: 23,015,966 (GRCm39)	T334S	probably benign	Het
Ezr	T	C	17: 7,026,961 (GRCm39)	I5V	probably benign	Het
Fam53c	A	C	18: 34,901,743 (GRCm39)	E220A	probably damaging	Het
Galnt12	T	C	4: 47,104,143 (GRCm39)	S134P	probably damaging	Het
Gcfc2	T	A	6: 81,918,408 (GRCm39)	L366*	probably null	Het
Gins4	T	A	8: 23,727,075 (GRCm39)	D6V	probably benign	Het
Grid1	A	G	14: 35,291,514 (GRCm39)	H807R	probably benign	Het
H2-T22	GTTTT	GTTT	17: 36,352,462 (GRCm39)		probably null	Het
Ighv1-66	T	C	12: 115,556,929 (GRCm39)	Y51C	probably benign	Het
Inpp4b	A	T	8: 82,849,282 (GRCm39)	Y901F	probably damaging	Het
Irf2	T	A	8: 47,299,222 (GRCm39)	S339T	probably damaging	Het
Itgae	G	T	11: 73,010,345 (GRCm39)	G612*	probably null	Het
Kdr	T	C	5: 76,105,259 (GRCm39)	K1037R	possibly damaging	Het
Mro	A	T	18: 74,006,397 (GRCm39)	M115L	probably benign	Het
Myo5a	A	G	9: 75,087,438 (GRCm39)	E1098G	probably damaging	Het
Nkx2-1	T	A	12: 56,580,350 (GRCm39)	M197L	probably benign	Het
Or7e165	T	C	9: 19,694,678 (GRCm39)	I83T	probably benign	Het
Pank2	T	A	2: 131,138,201 (GRCm39)	F430L	possibly damaging	Het
Pcx	T	A	19: 4,669,505 (GRCm39)	V794E	probably damaging	Het
Pdgfd	C	T	9: 6,288,556 (GRCm39)	P70L	probably damaging	Het
Pla2g4e	T	C	2: 120,004,781 (GRCm39)	Y521C	probably damaging	Het
Pou5f1	T	A	17: 35,817,028 (GRCm39)	F11Y	probably damaging	Het
Prdm9	A	G	17: 15,773,640 (GRCm39)	M252T	probably benign	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Rad51ap1	A	G	6: 126,904,516 (GRCm39)	S123P	probably benign	Het
Robo3	T	C	9: 37,336,514 (GRCm39)	E418G	probably damaging	Het
Sos2	C	T	12: 69,663,102 (GRCm39)	R631H	probably damaging	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
St3gal2	C	T	8: 111,684,417 (GRCm39)	T25I	probably benign	Het
Stra6l	G	A	4: 45,882,851 (GRCm39)	A521T	probably benign	Het
Syt7	T	A	19: 10,403,845 (GRCm39)	L177Q	probably damaging	Het
Tet2	T	A	3: 133,191,844 (GRCm39)	Q863H	possibly damaging	Het
Tmem232	T	C	17: 65,572,237 (GRCm39)	K585E	possibly damaging	Het
Trpc6	A	C	9: 8,652,979 (GRCm39)	E595A	probably damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,119 (GRCm39)	L815*	probably null	Het
Vmn2r81	C	T	10: 79,129,211 (GRCm39)	Q701*	probably null	Het
Vps13c	T	C	9: 67,860,217 (GRCm39)	V2811A	possibly damaging	Het
Vsig10l2	T	C	9: 35,428,158 (GRCm39)	S106G	possibly damaging	Het
Zfp354a	A	G	11: 50,961,064 (GRCm39)	E425G	probably damaging	Het
Zfp617	A	T	8: 72,686,659 (GRCm39)	T330S	probably benign	Het
Zfp663	G	T	2: 165,201,050 (GRCm39)		probably benign	Het
Zfp84	T	C	7: 29,476,505 (GRCm39)	L399P	probably damaging	Het
Zfp869	A	T	8: 70,159,513 (GRCm39)	C353*	probably null	Het
Zscan22	C	T	7: 12,640,488 (GRCm39)	A85V	probably benign	Het

Other mutations in Ddias

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02727:Ddias	APN	7	92,515,830 (GRCm39)	missense	probably damaging	0.98
IGL02820:Ddias	APN	7	92,508,551 (GRCm39)	missense	probably benign	0.07
I0000:Ddias	UTSW	7	92,515,848 (GRCm39)	missense	possibly damaging	0.69
R0094:Ddias	UTSW	7	92,509,108 (GRCm39)	missense	possibly damaging	0.61
R0482:Ddias	UTSW	7	92,508,736 (GRCm39)	missense	probably benign	0.41
R0883:Ddias	UTSW	7	92,508,545 (GRCm39)	missense	probably benign
R1131:Ddias	UTSW	7	92,509,094 (GRCm39)	missense	possibly damaging	0.92
R1722:Ddias	UTSW	7	92,509,250 (GRCm39)	missense	possibly damaging	0.63
R1758:Ddias	UTSW	7	92,508,571 (GRCm39)	missense	probably benign	0.03
R1937:Ddias	UTSW	7	92,507,830 (GRCm39)	missense	probably benign	0.07
R2067:Ddias	UTSW	7	92,508,907 (GRCm39)	missense	possibly damaging	0.79
R2124:Ddias	UTSW	7	92,507,464 (GRCm39)	missense	probably benign	0.00
R2483:Ddias	UTSW	7	92,508,800 (GRCm39)	missense	probably benign	0.13
R3623:Ddias	UTSW	7	92,508,800 (GRCm39)	missense	probably benign	0.13
R3690:Ddias	UTSW	7	92,509,366 (GRCm39)	missense	probably benign	0.24
R4015:Ddias	UTSW	7	92,509,069 (GRCm39)	missense	probably benign	0.06
R4021:Ddias	UTSW	7	92,510,686 (GRCm39)	missense	possibly damaging	0.57
R4022:Ddias	UTSW	7	92,510,686 (GRCm39)	missense	possibly damaging	0.57
R4384:Ddias	UTSW	7	92,507,431 (GRCm39)	missense	probably damaging	0.98
R4410:Ddias	UTSW	7	92,507,287 (GRCm39)	missense	probably benign	0.04
R5653:Ddias	UTSW	7	92,507,937 (GRCm39)	missense	probably damaging	1.00
R6666:Ddias	UTSW	7	92,507,289 (GRCm39)	missense	probably benign
R6853:Ddias	UTSW	7	92,508,773 (GRCm39)	missense	possibly damaging	0.46
R7650:Ddias	UTSW	7	92,508,143 (GRCm39)	missense	probably benign	0.00
R8446:Ddias	UTSW	7	92,515,818 (GRCm39)	missense	probably damaging	1.00
R8480:Ddias	UTSW	7	92,508,608 (GRCm39)	missense	probably benign	0.01
R8753:Ddias	UTSW	7	92,508,668 (GRCm39)	missense	probably damaging	1.00
R9138:Ddias	UTSW	7	92,507,608 (GRCm39)	missense	possibly damaging	0.63
R9336:Ddias	UTSW	7	92,507,314 (GRCm39)	missense	possibly damaging	0.91
R9554:Ddias	UTSW	7	92,507,560 (GRCm39)	missense	probably benign	0.22
X0027:Ddias	UTSW	7	92,508,203 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGTACTTCCAGTGGTAACAAG -3'
(R):5'- GTGACTGTTCTGATCTCAGGAG -3'

Sequencing Primer
(F):5'- GGTACTTCCAGTGGTAACAAGTTATC -3'
(R):5'- CTCAGGAGCAGATATTTTACTGGATG -3'

Posted On

2015-10-21