Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Ddias'

657477

Institutional Source

Beutler Lab

Gene Symbol

Ddias

Ensembl Gene

ENSMUSG00000030641

Gene Name

DNA damage-induced apoptosis suppressor

Synonyms

noxin, 4632434I11Rik

MMRRC Submission

067924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92857525-92874247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92859400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 436 (Q436K)

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: Q436K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: Q436K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,210,839 (GRCm38)	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459 (GRCm38)	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164 (GRCm38)	E60K	probably benign	Het
Alb	T	C	5: 90,462,771 (GRCm38)	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427 (GRCm38)		probably benign	Het
Aste1	G	A	9: 105,396,990 (GRCm38)	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796 (GRCm38)	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470 (GRCm38)	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275 (GRCm38)	G235R	probably damaging	Het
Bpnt2	C	T	4: 4,769,376 (GRCm38)	M246I	probably benign	Het
Brwd1	A	T	16: 96,047,430 (GRCm38)	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144 (GRCm38)		probably null	Het
Cdh22	T	A	2: 165,146,726 (GRCm38)	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085 (GRCm38)	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902 (GRCm38)	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394 (GRCm38)	D1234G	probably benign	Het
Cplane1	C	A	15: 8,187,458 (GRCm38)	P720Q	possibly damaging	Het
Cpt2	A	G	4: 107,907,760 (GRCm38)	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793 (GRCm38)	S323T	probably benign	Het
Dlec1	G	A	9: 119,143,267 (GRCm38)		probably null	Het
Dock5	T	A	14: 67,836,410 (GRCm38)	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968 (GRCm38)	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506 (GRCm38)	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926 (GRCm38)	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570 (GRCm38)		probably null	Het
Hsph1	A	T	5: 149,627,564 (GRCm38)	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382 (GRCm38)	G27R	possibly damaging	Het
Krt26	T	C	11: 99,337,600 (GRCm38)	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145 (GRCm38)		probably null	Het
Krt36	T	C	11: 100,102,809 (GRCm38)	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131 (GRCm38)	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936 (GRCm38)	N758S	probably damaging	Het
Mrtfb	A	T	16: 13,384,192 (GRCm38)		probably null	Het
Muc4	C	T	16: 32,752,993 (GRCm38)	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235 (GRCm38)	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644 (GRCm38)	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370 (GRCm38)	L72F	possibly damaging	Het
Or4f14d	A	T	2: 112,129,985 (GRCm38)	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065 (GRCm38)	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280 (GRCm38)	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505 (GRCm38)	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418 (GRCm38)	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877 (GRCm38)	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166 (GRCm38)	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079 (GRCm38)	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069 (GRCm38)		probably null	Het
Ssc5d	A	T	7: 4,936,329 (GRCm38)	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116 (GRCm38)	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818 (GRCm38)	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873 (GRCm38)		probably null	Het
Ube2e3	T	C	2: 78,918,814 (GRCm38)	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768 (GRCm38)	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899 (GRCm38)	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999 (GRCm38)	A660V	probably benign	Het

Other mutations in Ddias

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02727:Ddias	APN	7	92,866,622 (GRCm38)	missense	probably damaging	0.98
IGL02820:Ddias	APN	7	92,859,343 (GRCm38)	missense	probably benign	0.07
I0000:Ddias	UTSW	7	92,866,640 (GRCm38)	missense	possibly damaging	0.69
R0094:Ddias	UTSW	7	92,859,900 (GRCm38)	missense	possibly damaging	0.61
R0482:Ddias	UTSW	7	92,859,528 (GRCm38)	missense	probably benign	0.41
R0883:Ddias	UTSW	7	92,859,337 (GRCm38)	missense	probably benign
R1131:Ddias	UTSW	7	92,859,886 (GRCm38)	missense	possibly damaging	0.92
R1722:Ddias	UTSW	7	92,860,042 (GRCm38)	missense	possibly damaging	0.63
R1758:Ddias	UTSW	7	92,859,363 (GRCm38)	missense	probably benign	0.03
R1937:Ddias	UTSW	7	92,858,622 (GRCm38)	missense	probably benign	0.07
R2067:Ddias	UTSW	7	92,859,699 (GRCm38)	missense	possibly damaging	0.79
R2124:Ddias	UTSW	7	92,858,256 (GRCm38)	missense	probably benign	0.00
R2483:Ddias	UTSW	7	92,859,592 (GRCm38)	missense	probably benign	0.13
R3623:Ddias	UTSW	7	92,859,592 (GRCm38)	missense	probably benign	0.13
R3690:Ddias	UTSW	7	92,860,158 (GRCm38)	missense	probably benign	0.24
R4015:Ddias	UTSW	7	92,859,861 (GRCm38)	missense	probably benign	0.06
R4021:Ddias	UTSW	7	92,861,478 (GRCm38)	missense	possibly damaging	0.57
R4022:Ddias	UTSW	7	92,861,478 (GRCm38)	missense	possibly damaging	0.57
R4384:Ddias	UTSW	7	92,858,223 (GRCm38)	missense	probably damaging	0.98
R4410:Ddias	UTSW	7	92,858,079 (GRCm38)	missense	probably benign	0.04
R4691:Ddias	UTSW	7	92,858,816 (GRCm38)	missense	probably damaging	0.99
R5653:Ddias	UTSW	7	92,858,729 (GRCm38)	missense	probably damaging	1.00
R6666:Ddias	UTSW	7	92,858,081 (GRCm38)	missense	probably benign
R6853:Ddias	UTSW	7	92,859,565 (GRCm38)	missense	possibly damaging	0.46
R7650:Ddias	UTSW	7	92,858,935 (GRCm38)	missense	probably benign	0.00
R8446:Ddias	UTSW	7	92,866,610 (GRCm38)	missense	probably damaging	1.00
R8753:Ddias	UTSW	7	92,859,460 (GRCm38)	missense	probably damaging	1.00
R9138:Ddias	UTSW	7	92,858,400 (GRCm38)	missense	possibly damaging	0.63
R9336:Ddias	UTSW	7	92,858,106 (GRCm38)	missense	possibly damaging	0.91
R9554:Ddias	UTSW	7	92,858,352 (GRCm38)	missense	probably benign	0.22
X0027:Ddias	UTSW	7	92,858,995 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTTCTACTACCGGCTATGGAG -3'
(R):5'- CCATCCTTCAACAGAGGTCTTC -3'

Sequencing Primer
(F):5'- CTGAATGTGAGGACTTGCATTAGAC -3'
(R):5'- CAGAGGTCTTCTGCATTTTCATTG -3'

Posted On

2021-01-18