Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:Ddi1'

298295

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddi1

Ensembl Gene

ENSMUSG00000047619

Gene Name

DNA-damage inducible 1

Synonyms

1700011N24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

6265028-6266547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6266183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 62 (G62D)

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

possibly damaging
Transcript: ENSMUST00000051706
AA Change: G62D

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: G62D

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,895,495 (GRCm39)	A193S	probably damaging	Het
Adcy4	T	C	14: 56,006,627 (GRCm39)	T1069A	probably benign	Het
Arg2	A	T	12: 79,197,533 (GRCm39)	I184F	probably benign	Het
Asb18	G	A	1: 89,942,113 (GRCm39)	P63S	probably damaging	Het
Cep85	T	C	4: 133,883,634 (GRCm39)	H85R	possibly damaging	Het
Chfr	A	G	5: 110,291,413 (GRCm39)		probably null	Het
Cog2	A	G	8: 125,256,698 (GRCm39)	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,913,720 (GRCm39)	T162A	probably damaging	Het
Dhx33	T	C	11: 70,878,066 (GRCm39)	Y435C	probably damaging	Het
Dsc3	A	T	18: 20,098,885 (GRCm39)	C765S	probably benign	Het
Egfem1	T	A	3: 29,722,529 (GRCm39)	D362E	probably benign	Het
Gm28040	A	T	1: 133,247,069 (GRCm39)	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,338,202 (GRCm39)	M22T	probably benign	Het
Hdac1-ps	A	G	17: 78,799,303 (GRCm39)	E98G	probably damaging	Het
Hipk2	A	G	6: 38,680,436 (GRCm39)	I968T	possibly damaging	Het
Hlx	T	G	1: 184,462,948 (GRCm39)	S235R	probably damaging	Het
Jag1	T	C	2: 136,933,867 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,125,607 (GRCm39)		probably benign	Het
Klhl3	T	C	13: 58,166,685 (GRCm39)	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,768,607 (GRCm39)		probably benign	Het
Large1	T	A	8: 73,775,042 (GRCm39)	M223L	probably benign	Het
Lrp1b	T	C	2: 40,760,413 (GRCm39)	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,561,221 (GRCm39)	D582G	probably benign	Het
Nedd9	T	C	13: 41,470,211 (GRCm39)	D314G	probably damaging	Het
Nip7	T	C	8: 107,784,825 (GRCm39)		probably benign	Het
Or10j27	T	G	1: 172,957,901 (GRCm39)	K294N	probably damaging	Het
Or52ae9	A	T	7: 103,389,710 (GRCm39)	C246S	possibly damaging	Het
Or7a42	C	A	10: 78,791,773 (GRCm39)	H245N	probably damaging	Het
P3h1	T	C	4: 119,095,053 (GRCm39)		probably benign	Het
Pcp4l1	C	T	1: 171,003,133 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,330 (GRCm39)	G118D	probably benign	Het
Prkg1	T	C	19: 30,602,134 (GRCm39)	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,091,497 (GRCm39)	L534P	possibly damaging	Het
Rnf123	A	G	9: 107,943,547 (GRCm39)	S563P	probably damaging	Het
Scart1	A	G	7: 139,800,491 (GRCm39)	M91V	probably benign	Het
Sdk2	A	T	11: 113,759,747 (GRCm39)	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,578,688 (GRCm39)	I655T	possibly damaging	Het
Syne1	T	C	10: 4,993,618 (GRCm39)	K524R	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tbc1d22a	C	T	15: 86,123,372 (GRCm39)	A135V	probably benign	Het
Tenm3	A	C	8: 48,751,991 (GRCm39)	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,092,840 (GRCm39)	V1247I	probably benign	Het
Treml1	A	G	17: 48,667,459 (GRCm39)	T115A	possibly damaging	Het
Ttn	T	C	2: 76,540,306 (GRCm39)	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,571,342 (GRCm39)	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,709,074 (GRCm39)	G285D	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,286,083 (GRCm39)	S194A	probably benign	Het
Wdr1	G	A	5: 38,703,165 (GRCm39)	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,443,097 (GRCm39)		probably benign	Het
Zfp668	A	T	7: 127,467,494 (GRCm39)	C27*	probably null	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
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
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

Posted On

2015-04-16