Mutagenetix > Incidental Mutation

Incidental Mutation 'R4950:Ddi1'

381922

Institutional Source

Beutler Lab

Gene Symbol

Ddi1

Ensembl Gene

ENSMUSG00000047619

Gene Name

DNA-damage inducible 1

Synonyms

MMRRC Submission

042547-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6262733-6269846 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6266073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 99 (S99P)

Ref Sequence

ENSEMBL: ENSMUSP00000053223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051706] [ENSMUST00000058692] [ENSMUST00000168039] [ENSMUST00000214892]

AlphaFold

Q9DAF3

PDB Structure

Solution Structure of the Ubiquitin-like Domain from Mouse Hypothetical 1700011N24Rik Protein [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000051706
AA Change: S99P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: S99P

Domain	Start	End	E-Value	Type
UBQ	3	77	4.57e-1	SMART
low complexity region	111	123	N/A	INTRINSIC
low complexity region	191	202	N/A	INTRINSIC
Pfam:Asp_protease	226	349	3.3e-63	PFAM
Pfam:RVP_2	229	362	3.6e-8	PFAM
Pfam:RVP	250	349	2.5e-8	PFAM
Pfam:Asp_protease_2	252	340	1.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058692

SMART Domains

Protein: ENSMUSP00000056240
Gene: ENSMUSG00000032006

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CUB	48	164	5.38e-25	SMART
PDGF	265	358	4.58e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168039

SMART Domains

Protein: ENSMUSP00000128388
Gene: ENSMUSG00000032006

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CUB	54	170	5.38e-25	SMART
PDGF	271	364	4.58e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000214892

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	T	2: 154,311,659	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,368,671	E625G	probably damaging	Het
Cage1	C	T	13: 38,023,326	S181N	possibly damaging	Het
Ccdc36	A	C	9: 108,421,510	S36R	probably damaging	Het
Ccdc73	A	C	2: 104,992,366	I887L	probably benign	Het
Cfap65	T	A	1: 74,906,336	K1408*	probably null	Het
Cngb1	C	A	8: 95,248,507	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,795,245	E35D	possibly damaging	Het
Disp3	A	T	4: 148,258,126	D622E	possibly damaging	Het
Dnajc22	G	A	15: 99,101,734	V267I	probably benign	Het
Dph5	G	A	3: 115,928,643	G257S	probably benign	Het
Elmo2	A	T	2: 165,314,813		probably null	Het
Fam186a	T	C	15: 99,941,653	R2237G	unknown	Het
Fez1	G	A	9: 36,867,882	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,946,932	H101L	probably damaging	Het
Fsip2	G	A	2: 82,977,414	C1359Y	probably benign	Het
Fxyd7	G	A	7: 31,047,390	T15I	probably benign	Het
Gpr155	A	T	2: 73,382,185	D31E	probably benign	Het
Irx6	A	T	8: 92,678,800	Y432F	probably damaging	Het
Itih5	A	C	2: 10,235,081	I340L	probably damaging	Het
Lao1	T	C	4: 118,965,375	L164S	probably damaging	Het
Mcoln3	T	C	3: 146,139,519	I490T	probably damaging	Het
Mef2b	T	C	8: 70,167,196	Y311H	probably damaging	Het
Mras	A	T	9: 99,394,484	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,271,280	D475G	probably damaging	Het
Nrcam	T	C	12: 44,598,490	I1155T	probably damaging	Het
Ntrk1	A	G	3: 87,789,611		probably null	Het
Olfr58	G	A	9: 19,783,731	M199I	probably benign	Het
Olfr885	T	C	9: 38,062,001	I227T	probably damaging	Het
Parp9	A	T	16: 35,948,007	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,230	V421E	probably benign	Het
Pck1	T	A	2: 173,154,827	I178K	probably benign	Het
Pde6b	A	G	5: 108,430,703	K836E	probably benign	Het
Ptprd	T	A	4: 76,140,515		probably null	Het
Pwp2	A	G	10: 78,183,006	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085		probably benign	Het
Rpain	C	G	11: 70,970,921	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,704,759		probably null	Het
Rubcn	A	T	16: 32,843,193	S358T	probably damaging	Het
Ryr2	G	A	13: 11,742,011	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,981,904	I669V	probably benign	Het
Slx1b	T	C	7: 126,691,767		probably benign	Het
Spsb3	T	A	17: 24,887,511		probably benign	Het
Tbx15	A	G	3: 99,326,384	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,837,332	E481D	probably damaging	Het
Trim17	A	T	11: 58,970,428	D253V	probably damaging	Het
Trim69	A	G	2: 122,178,746	D429G	probably damaging	Het
Vstm5	A	G	9: 15,257,794		probably null	Het
Vwa3b	A	G	1: 37,085,332	Q337R	probably benign	Het
Zfp113	T	C	5: 138,145,472	N172S	probably benign	Het
Zfp607a	T	A	7: 27,878,751	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,517,899	T148I	probably benign	Het

Other mutations in Ddi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Ddi1	APN	9	6265773	missense	probably damaging	0.97
IGL01977:Ddi1	APN	9	6266226	missense	probably benign	0.01
IGL02260:Ddi1	APN	9	6265760	missense	probably benign
IGL02543:Ddi1	APN	9	6266183	missense	possibly damaging	0.79
IGL02678:Ddi1	APN	9	6266106	missense	probably benign
R0482:Ddi1	UTSW	9	6266144	missense	probably damaging	0.96
R1313:Ddi1	UTSW	9	6265769	missense	probably damaging	0.99
R1313:Ddi1	UTSW	9	6265769	missense	probably damaging	0.99
R1588:Ddi1	UTSW	9	6265391	missense	probably damaging	0.98
R1605:Ddi1	UTSW	9	6266012	missense	probably benign	0.02
R1671:Ddi1	UTSW	9	6266225	missense	possibly damaging	0.81
R4237:Ddi1	UTSW	9	6265799	missense	probably benign	0.00
R4239:Ddi1	UTSW	9	6265799	missense	probably benign	0.00
R4240:Ddi1	UTSW	9	6265799	missense	probably benign	0.00
R4588:Ddi1	UTSW	9	6266003	missense	probably benign	0.15
R4790:Ddi1	UTSW	9	6265761	missense	probably benign	0.00
R5626:Ddi1	UTSW	9	6266003	missense	probably benign
R7413:Ddi1	UTSW	9	6265670	missense	probably damaging	1.00
R8052:Ddi1	UTSW	9	6265787	missense	probably benign
R8260:Ddi1	UTSW	9	6265524	missense	probably damaging	1.00
R8285:Ddi1	UTSW	9	6265808	missense	probably benign	0.00
R8356:Ddi1	UTSW	9	6266249	missense	probably benign	0.09
R8885:Ddi1	UTSW	9	6266198	missense	probably benign	0.44
R9564:Ddi1	UTSW	9	6265730	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTTCGAATCAGGGCAGG -3'
(R):5'- TCAACCCTGACTTTGAGCTC -3'

Sequencing Primer
(F):5'- AATCAGGGCAGGGCTGTC -3'
(R):5'- TGAGCTCTCAAACTTCAGAGTC -3'

Posted On

2016-04-27