Mutagenetix > Incidental Mutation

Incidental Mutation 'R4588:Ddi1'

342619

Institutional Source

Beutler Lab

Gene Symbol

Ddi1

Ensembl Gene

ENSMUSG00000047619

Gene Name

DNA-damage inducible 1

Synonyms

1700011N24Rik

MMRRC Submission

042007-MU

Accession Numbers

Essential gene?

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

Stock #

R4588 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6265028-6266547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6266003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 122 (H122L)

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: H122L

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: H122L

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,833,701 (GRCm39)		probably null	Het
Abcb4	A	T	5: 8,997,328 (GRCm39)	I936F	probably benign	Het
Adnp2	G	T	18: 80,171,863 (GRCm39)	L849I	probably benign	Het
Atf7ip	T	C	6: 136,576,692 (GRCm39)	S1032P	probably benign	Het
Atr	A	C	9: 95,747,720 (GRCm39)	D334A	probably benign	Het
Atrip	A	T	9: 108,889,347 (GRCm39)	D20E	probably damaging	Het
Atxn7	T	A	14: 14,096,268 (GRCm38)	C43*	probably null	Het
Cfap65	C	A	1: 74,943,215 (GRCm39)	Q1603H	possibly damaging	Het
Cpne5	T	C	17: 29,383,687 (GRCm39)	I327V	probably benign	Het
Ctsa	T	C	2: 164,676,070 (GRCm39)	S41P	possibly damaging	Het
Cyp4x1	A	T	4: 114,965,994 (GRCm39)	L444Q	probably damaging	Het
Dchs1	C	A	7: 105,405,248 (GRCm39)	M2431I	probably benign	Het
Defa21	C	T	8: 21,515,664 (GRCm39)	P21S	probably damaging	Het
Ect2	A	G	3: 27,201,149 (GRCm39)	V77A	probably damaging	Het
Ermap	C	A	4: 119,045,445 (GRCm39)		probably benign	Het
Fancm	G	A	12: 65,165,215 (GRCm39)		probably null	Het
Gcnt3	T	A	9: 69,941,512 (GRCm39)	D352V	probably damaging	Het
Gys2	A	G	6: 142,395,181 (GRCm39)	M428T	possibly damaging	Het
Igtp	T	A	11: 58,097,508 (GRCm39)	N226K	probably damaging	Het
Itpr2	T	A	6: 146,142,694 (GRCm39)	H1675L	probably benign	Het
Lipo4	G	A	19: 33,476,647 (GRCm39)	P367L	possibly damaging	Het
Lzts3	T	C	2: 130,476,686 (GRCm39)	*587W	probably null	Het
Mast3	T	A	8: 71,233,251 (GRCm39)	K300*	probably null	Het
Mepce	G	A	5: 137,783,534 (GRCm39)	T264I	possibly damaging	Het
Mif4gd	A	T	11: 115,500,372 (GRCm39)	I62N	probably damaging	Het
Or14a260	C	T	7: 85,984,852 (GRCm39)	V251I	probably benign	Het
Or7e175	T	A	9: 20,049,383 (GRCm39)	*324K	probably null	Het
Palm3	A	G	8: 84,756,015 (GRCm39)	K509R	probably benign	Het
Pde11a	T	C	2: 75,859,647 (GRCm39)	T821A	probably damaging	Het
Pik3r5	A	G	11: 68,384,087 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,271,092 (GRCm39)	T3154A	probably benign	Het
Ptprs	A	G	17: 56,732,534 (GRCm39)	Y438H	probably damaging	Het
Rdh8	T	A	9: 20,734,025 (GRCm39)	D70E	probably benign	Het
Scn2a	A	T	2: 65,544,111 (GRCm39)	I831L	possibly damaging	Het
Selenoo	A	G	15: 88,980,921 (GRCm39)	H420R	probably benign	Het
Slc22a16	T	C	10: 40,446,677 (GRCm39)		probably benign	Het
Slc5a1	A	G	5: 33,302,632 (GRCm39)	T208A	probably benign	Het
Sparc	T	C	11: 55,296,062 (GRCm39)	M121V	probably benign	Het
Sstr1	G	T	12: 58,260,417 (GRCm39)	A347S	probably benign	Het
Stab1	C	A	14: 30,879,402 (GRCm39)	V693F	probably benign	Het
Tnn	A	G	1: 159,972,681 (GRCm39)	V307A	probably benign	Het
Trmt1	A	G	8: 85,417,382 (GRCm39)		probably benign	Het
Ttc3	T	C	16: 94,243,760 (GRCm39)	S1255P	probably benign	Het
Ube2ql1	A	C	13: 69,887,276 (GRCm39)	S62A	unknown	Het
Vmn2r84	T	A	10: 130,221,809 (GRCm39)	M804L	probably damaging	Het
Vps13a	T	C	19: 16,617,403 (GRCm39)	T3002A	probably damaging	Het
Vps50	A	G	6: 3,562,306 (GRCm39)	E467G	probably damaging	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
R1588:Ddi1	UTSW	9	6,265,391 (GRCm39)	missense	probably damaging	0.98
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
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'- GTCTCAAGGTTTCCACTAAGCAG -3'
(R):5'- GGAACAGCTCCTCACAGATG -3'

Sequencing Primer
(F):5'- GGTTTCCACTAAGCAGAGCTTCAG -3'
(R):5'- CTGGGCTCCTATGGACTCAAAGATG -3'

Posted On

2015-09-24