Mutagenetix > Incidental Mutation

Incidental Mutation 'R8446:Ddias'

654498

Institutional Source

Beutler Lab

Gene Symbol

Ddias

Ensembl Gene

ENSMUSG00000030641

Gene Name

DNA damage-induced apoptosis suppressor

Synonyms

4632434I11Rik, noxin

MMRRC Submission

067827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8446 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92506734-92523455 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92515818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 25 (C25F)

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: C25F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: C25F

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 damaging
Transcript: ENSMUST00000208356
AA Change: C25F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209074
AA Change: C25F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	G	A	5: 24,771,641 (GRCm39)	R529*	probably null	Het
Afap1	T	A	5: 36,144,645 (GRCm39)	S122T		Het
Arnt	TG	T	3: 95,382,014 (GRCm39)		probably null	Het
Bbs1	G	A	19: 4,947,633 (GRCm39)	T307I	probably benign	Het
Cacna1c	A	T	6: 118,604,411 (GRCm39)	S1439T		Het
Camk4	T	A	18: 33,289,810 (GRCm39)	H152Q	probably damaging	Het
Capn2	A	T	1: 182,311,796 (GRCm39)	M426K	possibly damaging	Het
Chrm3	C	T	13: 9,928,338 (GRCm39)	G233S	probably damaging	Het
Clca3a1	A	T	3: 144,454,248 (GRCm39)	Y461N	probably damaging	Het
Clip1	G	C	5: 123,794,008 (GRCm39)	P12A	probably damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Commd5	T	C	15: 76,785,094 (GRCm39)	S164P	probably damaging	Het
Csgalnact1	A	G	8: 68,913,743 (GRCm39)	V154A	probably damaging	Het
Dnah7b	A	T	1: 46,329,875 (GRCm39)	I3240F	probably damaging	Het
Fam186a	T	G	15: 99,845,335 (GRCm39)	D303A	unknown	Het
Igkv8-27	A	G	6: 70,148,932 (GRCm39)	I74T	probably damaging	Het
Itgb2l	G	T	16: 96,233,857 (GRCm39)	Q278K	probably damaging	Het
Itgb7	T	C	15: 102,127,043 (GRCm39)	E464G	probably damaging	Het
Kdm2a	G	A	19: 4,406,916 (GRCm39)	Q116*	probably null	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 141,728,845 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,942,035 (GRCm39)		probably null	Het
Lnx2	A	G	5: 146,970,169 (GRCm39)	L191S	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myh4	T	A	11: 67,144,347 (GRCm39)	M1239K	probably benign	Het
Nckap5l	C	A	15: 99,323,930 (GRCm39)	G858C	probably benign	Het
Nelfa	A	T	5: 34,058,982 (GRCm39)	L262Q	probably damaging	Het
Or2j3	A	G	17: 38,615,638 (GRCm39)	V238A	probably benign	Het
Or8b46	A	T	9: 38,450,964 (GRCm39)	M258L	probably benign	Het
Pdgfa	T	C	5: 138,964,395 (GRCm39)	T211A	unknown	Het
Prl3d2	A	T	13: 27,307,976 (GRCm39)	I86F	probably benign	Het
Rpf2	T	A	10: 40,115,752 (GRCm39)	T76S	probably benign	Het
Setbp1	C	T	18: 78,900,971 (GRCm39)	D899N	probably damaging	Het
Slc35c1	T	A	2: 92,284,707 (GRCm39)	E315D	probably benign	Het
Slc6a3	A	T	13: 73,719,674 (GRCm39)	M568L	possibly damaging	Het
Sorbs1	T	C	19: 40,314,602 (GRCm39)	M737V	probably benign	Het
Sox17	A	G	1: 4,562,316 (GRCm39)	Y295H	possibly damaging	Het
Tex44	A	T	1: 86,354,696 (GRCm39)	I202F	possibly damaging	Het
Tinagl1	C	T	4: 130,060,694 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,673 (GRCm39)	N155K	probably damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Topbp1	T	A	9: 103,186,061 (GRCm39)	F68I	probably damaging	Het
Trim67	G	T	8: 125,520,730 (GRCm39)	A31S	probably damaging	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Ttn	A	C	2: 76,778,553 (GRCm39)	M1316R	unknown	Het
Usp40	T	C	1: 87,906,190 (GRCm39)	T682A	probably benign	Het
Wfs1	A	T	5: 37,128,953 (GRCm39)	D272E	probably benign	Het
Zfp763	A	T	17: 33,238,473 (GRCm39)	M224K	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
R4691:Ddias	UTSW	7	92,508,024 (GRCm39)	missense	probably damaging	0.99
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
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'- GCACGGTGACAGTGACTAAG -3'
(R):5'- AAAATGTCCACTAGGAGGCGTG -3'

Sequencing Primer
(F):5'- CGGTGACAGTGACTAAGTTTATACAC -3'
(R):5'- CGTGGGAGAATGCTAGTCATG -3'

Posted On

2020-10-20