Mutagenetix > Incidental Mutation

Incidental Mutation 'R1588:Ddi1'

177645

Institutional Source

Beutler Lab

Gene Symbol

Ddi1

Ensembl Gene

ENSMUSG00000047619

Gene Name

DNA-damage inducible 1

Synonyms

1700011N24Rik

MMRRC Submission

039625-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R1588 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6265028-6266547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6265391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 326 (I326K)

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 damaging
Transcript: ENSMUST00000051706
AA Change: I326K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: I326K

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,771,484 (GRCm39)	V869A	probably benign	Het
Ablim1	C	T	19: 57,071,979 (GRCm39)	M1I	probably null	Het
Adamts13	A	T	2: 26,865,687 (GRCm39)	I81F	probably benign	Het
Akap11	A	T	14: 78,747,685 (GRCm39)	N1567K	possibly damaging	Het
Arrdc4	G	A	7: 68,391,484 (GRCm39)	T261M	possibly damaging	Het
C4b	T	C	17: 34,959,999 (GRCm39)	I326V	probably benign	Het
Casp8ap2	G	A	4: 32,640,541 (GRCm39)	A532T	probably benign	Het
Ccdc134	A	G	15: 82,019,337 (GRCm39)	T187A	probably benign	Het
Cdh8	T	C	8: 99,917,039 (GRCm39)	N359D	probably damaging	Het
Cep97	A	G	16: 55,748,184 (GRCm39)	L82P	probably damaging	Het
Cfap53	A	T	18: 74,440,444 (GRCm39)	R404S	probably benign	Het
Chrng	C	A	1: 87,135,229 (GRCm39)	F179L	probably damaging	Het
Decr2	T	C	17: 26,302,002 (GRCm39)	T243A	possibly damaging	Het
Dip2c	T	C	13: 9,715,900 (GRCm39)	V1502A	probably damaging	Het
Edem1	T	C	6: 108,818,640 (GRCm39)	V216A	probably damaging	Het
Fat2	A	C	11: 55,174,230 (GRCm39)	V2161G	probably damaging	Het
Fbn1	T	C	2: 125,161,034 (GRCm39)	T2169A	probably benign	Het
Fmn1	T	C	2: 113,196,043 (GRCm39)	V581A	unknown	Het
Hip1r	A	T	5: 124,134,638 (GRCm39)	D350V	probably damaging	Het
Ift140	G	A	17: 25,306,959 (GRCm39)	R898H	probably damaging	Het
Il12a	A	G	3: 68,602,896 (GRCm39)	I159V	probably benign	Het
Itprid1	A	G	6: 55,955,488 (GRCm39)	E1032G	possibly damaging	Het
Kl	A	G	5: 150,906,097 (GRCm39)	E489G	probably benign	Het
Klhl3	T	C	13: 58,161,712 (GRCm39)	E461G	probably damaging	Het
Masp1	T	C	16: 23,313,404 (GRCm39)	Y177C	probably damaging	Het
Nop58	T	A	1: 59,742,031 (GRCm39)	Y187N	probably damaging	Het
Npc1l1	A	G	11: 6,167,785 (GRCm39)	V1002A	probably benign	Het
Ntaq1	T	A	15: 58,021,285 (GRCm39)		probably null	Het
Ntrk1	A	T	3: 87,687,384 (GRCm39)	Y683*	probably null	Het
Or11g26	A	G	14: 50,753,584 (GRCm39)	I308V	probably benign	Het
Or13j1	C	T	4: 43,705,923 (GRCm39)	C215Y	probably damaging	Het
Or2w4	C	T	13: 21,796,083 (GRCm39)	D19N	probably benign	Het
Or8k21	T	C	2: 86,144,874 (GRCm39)	Y252C	probably damaging	Het
Osbpl6	T	C	2: 76,409,560 (GRCm39)	V367A	probably benign	Het
Phip	A	G	9: 82,782,881 (GRCm39)	W855R	probably damaging	Het
Phlpp1	A	G	1: 106,308,115 (GRCm39)	S1131G	probably damaging	Het
Pkdrej	A	T	15: 85,701,442 (GRCm39)	V1498E	probably benign	Het
Pramel22	G	T	4: 143,382,121 (GRCm39)	L192M	probably damaging	Het
Prkaa2	T	C	4: 104,908,420 (GRCm39)	N152D	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,052,558 (GRCm39)	V732M	probably damaging	Het
Rccd1	C	T	7: 79,969,859 (GRCm39)	W223*	probably null	Het
Riox2	T	A	16: 59,295,946 (GRCm39)	S16T	possibly damaging	Het
Scn5a	C	T	9: 119,350,367 (GRCm39)	V836I	probably damaging	Het
Serpinf1	G	A	11: 75,301,076 (GRCm39)	R380C	probably damaging	Het
Sf3b1	A	T	1: 55,036,336 (GRCm39)	N912K	probably benign	Het
Shprh	T	A	10: 11,040,488 (GRCm39)	C134S	probably damaging	Het
Skint8	T	A	4: 111,785,924 (GRCm39)	C123*	probably null	Het
Slc16a13	G	T	11: 70,109,421 (GRCm39)	S360*	probably null	Het
Srr	A	G	11: 74,799,629 (GRCm39)	I282T	possibly damaging	Het
Trpm1	T	C	7: 63,873,565 (GRCm39)	F607L	possibly damaging	Het
Ttn	T	C	2: 76,539,870 (GRCm39)	D34372G	probably benign	Het
Tub	C	T	7: 108,628,888 (GRCm39)	T401I	probably damaging	Het
Wdhd1	T	C	14: 47,493,693 (GRCm39)	E9G	probably damaging	Het
Yipf3	T	A	17: 46,561,787 (GRCm39)	F198Y	possibly damaging	Het
Zfp955a	C	T	17: 33,460,791 (GRCm39)	R447K	probably benign	Het

Other mutations in Ddi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Ddi1	APN	9	6,265,773 (GRCm39)	missense	probably damaging	0.97
IGL01977:Ddi1	APN	9	6,266,226 (GRCm39)	missense	probably benign	0.01
IGL02260:Ddi1	APN	9	6,265,760 (GRCm39)	missense	probably benign
IGL02543:Ddi1	APN	9	6,266,183 (GRCm39)	missense	possibly damaging	0.79
IGL02678:Ddi1	APN	9	6,266,106 (GRCm39)	missense	probably benign
R0482:Ddi1	UTSW	9	6,266,144 (GRCm39)	missense	probably damaging	0.96
R1313:Ddi1	UTSW	9	6,265,769 (GRCm39)	missense	probably damaging	0.99
R1313:Ddi1	UTSW	9	6,265,769 (GRCm39)	missense	probably damaging	0.99
R1605:Ddi1	UTSW	9	6,266,012 (GRCm39)	missense	probably benign	0.02
R1671:Ddi1	UTSW	9	6,266,225 (GRCm39)	missense	possibly damaging	0.81
R4237:Ddi1	UTSW	9	6,265,799 (GRCm39)	missense	probably benign	0.00
R4239:Ddi1	UTSW	9	6,265,799 (GRCm39)	missense	probably benign	0.00
R4240:Ddi1	UTSW	9	6,265,799 (GRCm39)	missense	probably benign	0.00
R4588:Ddi1	UTSW	9	6,266,003 (GRCm39)	missense	probably benign	0.15
R4790:Ddi1	UTSW	9	6,265,761 (GRCm39)	missense	probably benign	0.00
R4950:Ddi1	UTSW	9	6,266,073 (GRCm39)	missense	probably benign	0.04
R5626:Ddi1	UTSW	9	6,266,003 (GRCm39)	missense	probably benign
R7413:Ddi1	UTSW	9	6,265,670 (GRCm39)	missense	probably damaging	1.00
R8052:Ddi1	UTSW	9	6,265,787 (GRCm39)	missense	probably benign
R8260:Ddi1	UTSW	9	6,265,524 (GRCm39)	missense	probably damaging	1.00
R8285:Ddi1	UTSW	9	6,265,808 (GRCm39)	missense	probably benign	0.00
R8356:Ddi1	UTSW	9	6,266,249 (GRCm39)	missense	probably benign	0.09
R8885:Ddi1	UTSW	9	6,266,198 (GRCm39)	missense	probably benign	0.44
R9564:Ddi1	UTSW	9	6,265,730 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTTTAGCACACAAGGGCAACTC -3'
(R):5'- TGAAGGAACGGAATCCTGCTTTGG -3'

Sequencing Primer
(F):5'- AAGGGCAACTCTCCTTCAGG -3'
(R):5'- AGCTCTGCTTAGTGGAAACC -3'

Posted On

2014-04-24