Mutagenetix > Incidental Mutation

Incidental Mutation 'R3690:Ddias'

269727

Institutional Source

Beutler Lab

Gene Symbol

Ddias

Ensembl Gene

ENSMUSG00000030641

Gene Name

DNA damage-induced apoptosis suppressor

Synonyms

4632434I11Rik, noxin

MMRRC Submission

040685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3690 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92506734-92523455 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92509366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 183 (P183L)

Ref Sequence

ENSEMBL: ENSMUSP00000146512 (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: P183L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: P183L

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
AA Change: P183L

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000209074

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,091,328 (GRCm39)	Y629F	probably benign	Het
Abcb5	T	A	12: 118,836,668 (GRCm39)	D1081V	probably damaging	Het
Afdn	A	G	17: 14,108,671 (GRCm39)	E1398G	probably damaging	Het
Atp8b5	T	C	4: 43,368,055 (GRCm39)	C893R	probably damaging	Het
Avl9	C	T	6: 56,713,812 (GRCm39)	H357Y	probably benign	Het
Bclaf1	C	T	10: 20,201,143 (GRCm39)	T423I	possibly damaging	Het
Btbd19	A	T	4: 116,977,789 (GRCm39)		probably benign	Het
Cap1	A	G	4: 122,758,419 (GRCm39)	S254P	probably damaging	Het
Cdc42ep1	T	C	15: 78,731,629 (GRCm39)	S25P	probably benign	Het
Cln6	T	C	9: 62,754,252 (GRCm39)	I98T	possibly damaging	Het
Cul9	T	C	17: 46,814,957 (GRCm39)		probably null	Het
Dcx	T	C	X: 142,660,240 (GRCm39)	E268G	possibly damaging	Het
Dnase2b	A	T	3: 146,299,326 (GRCm39)	Y42*	probably null	Het
Dusp16	C	T	6: 134,738,082 (GRCm39)		probably benign	Het
Egfr	T	C	11: 16,821,881 (GRCm39)		probably benign	Het
Fam171a1	T	C	2: 3,227,393 (GRCm39)	V842A	probably benign	Het
Folr1	T	C	7: 101,507,745 (GRCm39)	S232G	probably benign	Het
Foxj3	T	C	4: 119,473,839 (GRCm39)		probably benign	Het
Fpr-rs6	T	C	17: 20,403,137 (GRCm39)	M75V	probably benign	Het
Fxyd5	G	T	7: 30,735,864 (GRCm39)	L128M	possibly damaging	Het
Gigyf2	T	C	1: 87,349,238 (GRCm39)	S500P	possibly damaging	Het
Inppl1	A	G	7: 101,481,275 (GRCm39)	L268P	probably damaging	Het
Klk1b24	A	T	7: 43,841,243 (GRCm39)	H192L	probably benign	Het
Llgl1	T	G	11: 60,597,828 (GRCm39)	Y316D	probably damaging	Het
Lmbrd1	T	A	1: 24,801,374 (GRCm39)	*143R	probably null	Het
Map3k15	T	A	X: 158,905,568 (GRCm39)	N1295K	possibly damaging	Het
Mcm3ap	A	G	10: 76,318,513 (GRCm39)	E678G	probably damaging	Het
Mrpl44	T	A	1: 79,757,366 (GRCm39)	Y270*	probably null	Het
Nav1	T	A	1: 135,395,382 (GRCm39)	I996L	probably benign	Het
Neb	T	C	2: 52,027,397 (GRCm39)	E6868G	probably damaging	Het
Nexmif	A	T	X: 103,131,213 (GRCm39)	Y235N	probably damaging	Het
Nup50	C	T	15: 84,823,994 (GRCm39)	T449M	probably damaging	Het
Or14a256	G	A	7: 86,265,686 (GRCm39)	P56S	probably damaging	Het
Or2b6	A	G	13: 21,823,508 (GRCm39)	F62L	probably damaging	Het
Or51aa2	T	C	7: 103,188,274 (GRCm39)	T56A	probably benign	Het
Or52e8b	A	G	7: 104,673,902 (GRCm39)	L95P	probably damaging	Het
Or52n2	T	C	7: 104,542,724 (GRCm39)	Y37C	possibly damaging	Het
Pald1	A	T	10: 61,191,587 (GRCm39)		probably null	Het
Pde11a	T	A	2: 76,121,510 (GRCm39)	K357I	probably damaging	Het
Ric3	A	G	7: 108,637,817 (GRCm39)	V312A	possibly damaging	Het
Scaper	C	T	9: 55,791,205 (GRCm39)	G231D	probably benign	Het
Smc1b	T	A	15: 85,001,464 (GRCm39)		probably benign	Het
Smcr8	A	G	11: 60,668,854 (GRCm39)	M1V	probably null	Het
Smtn	T	C	11: 3,477,687 (GRCm39)		probably benign	Het
Spatc1	A	T	15: 76,152,495 (GRCm39)	K42*	probably null	Het
Taf7l	A	T	X: 133,365,074 (GRCm39)	I449K	probably damaging	Het
Tex47	A	G	5: 7,354,777 (GRCm39)		probably benign	Het
Tram2	T	A	1: 21,075,824 (GRCm39)	Y198F	probably damaging	Het
Ttn	C	G	2: 76,629,588 (GRCm39)	W14284C	probably damaging	Het
Ube3a	A	G	7: 58,926,547 (GRCm39)	K442E	probably damaging	Het
Vmn2r116	T	A	17: 23,603,798 (GRCm39)	F8I	unknown	Het
Vmn2r59	A	G	7: 41,661,370 (GRCm39)	F815S	possibly damaging	Het
Zap70	T	C	1: 36,820,493 (GRCm39)	C563R	probably damaging	Het
Zfp579	T	C	7: 4,997,719 (GRCm39)	H64R	probably damaging	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
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
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'- AGTCAGTTCAAGAGATGGCTC -3'
(R):5'- CCATTTCCTCCTTGAGCTAAGAG -3'

Sequencing Primer
(F):5'- TTCAAGAGATGGCTCCCAGAATCTG -3'
(R):5'- CCTCCTTGAGCTAAGAGAAAGTTAC -3'

Posted On

2015-02-19