Mutagenetix > Incidental Mutations

Incidental Mutation 'R1313:Ddi1'

175059

Institutional Source

Beutler Lab

Gene Symbol

Ddi1

Ensembl Gene

ENSMUSG00000047619

Gene Name

DNA-damage inducible 1

Synonyms

MMRRC Submission

039379-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R1313 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6262733-6269846 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6265769 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 200 (E200G)

Ref Sequence

ENSEMBL: ENSMUSP00000053223 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000051706
AA Change: E200G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: E200G

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: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,265,672	T226A	probably benign	Het
Ankle1	A	G	8: 71,407,213	E145G	possibly damaging	Het
C1qtnf12	G	A	4: 155,965,874	E223K	probably damaging	Het
Cep250	C	T	2: 155,972,079	A589V	probably damaging	Het
Clhc1	A	G	11: 29,571,678	I404V	probably benign	Het
Dmxl1	T	C	18: 49,878,483	S1236P	probably damaging	Het
Dpyd	G	T	3: 118,899,161		probably benign	Het
Ercc6	C	T	14: 32,552,720		probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hnrnpul1	G	T	7: 25,722,916		probably benign	Het
Ints1	T	C	5: 139,762,906	T1049A	probably benign	Het
Lilrb4	C	T	10: 51,480,736	T6I	probably benign	Het
Mocs1	A	T	17: 49,454,269	T464S	probably benign	Het
Myo15b	T	C	11: 115,885,129	S816P	probably damaging	Het
Ogfr	T	C	2: 180,594,630	L336P	probably benign	Het
Olfr473	A	T	7: 107,933,768	M83L	probably benign	Het
Pet112l	A	G	3: 85,653,826	I550V	probably benign	Het
Psapl1	C	A	5: 36,205,266	Q401K	probably benign	Het
Rps26-ps1	T	A	8: 107,439,457		probably benign	Het
Sh3rf3	C	A	10: 59,071,999	Q450K	possibly damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Stat1	C	T	1: 52,156,006	T720I	probably damaging	Het
Vav1	G	A	17: 57,309,498		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
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
R4950:Ddi1	UTSW	9	6266073	missense	probably benign	0.04
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

Predicted Primers

PCR Primer
(F):5'- ATGAACGCGGCCCATAATCCTC -3'
(R):5'- GACCTTTGCTCAGGAACTCGACAG -3'

Sequencing Primer
(F):5'- CATGATAGTCATCTGGGCACC -3'
(R):5'- AGGAACTCGACAGCCCTG -3'

Posted On

2014-04-24