Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02012:Ddi2'

183410

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddi2

Ensembl Gene

ENSMUSG00000078515

Gene Name

DNA-damage inducible protein 2

Synonyms

1110056G13Rik, 1700027M01Rik, 9130022E05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

IGL02012

Quality Score

Status

Chromosome

Chromosomal Location

141410874-141450730 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 141435529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102484] [ENSMUST00000177592]

AlphaFold

A2ADY9

Predicted Effect

probably null
Transcript: ENSMUST00000102484

SMART Domains

Protein: ENSMUSP00000099542
Gene: ENSMUSG00000078515

Domain	Start	End	E-Value	Type
Pfam:ubiquitin	10	79	3.1e-9	PFAM
low complexity region	177	189	N/A	INTRINSIC
Pfam:Asp_protease	212	335	9.2e-65	PFAM
Pfam:RVP_2	219	348	3.7e-8	PFAM
Pfam:RVP	236	335	3.5e-8	PFAM
Pfam:Asp_protease_2	238	326	2.5e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000177592

SMART Domains

Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515

Domain	Start	End	E-Value	Type
low complexity region	315	320	N/A	INTRINSIC
UBA	538	575	8.12e-6	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,651,820 (GRCm39)	N1296S	probably damaging	Het
Adprh	A	T	16: 38,266,214 (GRCm39)	D309E	possibly damaging	Het
Armc1	A	T	3: 19,211,701 (GRCm39)	C40S	possibly damaging	Het
Cops8	T	C	1: 90,539,956 (GRCm39)	V204A	probably damaging	Het
Cstdc5	T	G	16: 36,187,802 (GRCm39)	D21A	possibly damaging	Het
Dchs1	T	G	7: 105,413,504 (GRCm39)	T1104P	probably damaging	Het
Ehbp1	G	A	11: 22,051,218 (GRCm39)	P420S	probably damaging	Het
Eif1ad	T	G	19: 5,418,687 (GRCm39)	V80G	probably damaging	Het
Fat1	T	C	8: 45,480,577 (GRCm39)	Y3004H	possibly damaging	Het
Fbxo11	C	T	17: 88,320,079 (GRCm39)	R211Q	probably benign	Het
Foxf2	A	G	13: 31,810,499 (GRCm39)	N146S	probably damaging	Het
Fsd2	A	T	7: 81,199,662 (GRCm39)	N334K	probably benign	Het
Gm45234	C	A	6: 124,723,011 (GRCm39)		probably benign	Het
Itpr3	T	A	17: 27,323,069 (GRCm39)	F1157I	probably benign	Het
Jph1	C	A	1: 17,167,638 (GRCm39)	W64L	probably benign	Het
Lmo7	T	C	14: 102,126,152 (GRCm39)		probably benign	Het
Man2a1	T	C	17: 64,973,894 (GRCm39)	I390T	probably damaging	Het
Marveld3	C	T	8: 110,674,764 (GRCm39)	V351M	probably damaging	Het
Minar1	T	C	9: 89,483,491 (GRCm39)	I635M	probably benign	Het
Mycn	A	G	12: 12,987,104 (GRCm39)	L431P	probably damaging	Het
Naip5	T	C	13: 100,359,847 (GRCm39)	N463S	probably benign	Het
Npnt	A	G	3: 132,614,158 (GRCm39)	C182R	probably damaging	Het
Obscn	A	G	11: 58,967,333 (GRCm39)	V3068A	probably benign	Het
Pggt1b	A	T	18: 46,396,022 (GRCm39)	S88T	probably benign	Het
Prx	A	G	7: 27,217,326 (GRCm39)	E748G	probably damaging	Het
Scrn3	T	C	2: 73,148,773 (GRCm39)		probably null	Het
Trmt10b	G	A	4: 45,315,045 (GRCm39)	R292H	probably benign	Het
Tuft1	A	G	3: 94,529,462 (GRCm39)		probably benign	Het
Wfdc8	T	C	2: 164,445,070 (GRCm39)		probably benign	Het

Other mutations in Ddi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Ddi2	APN	4	141,422,709 (GRCm39)	splice site	probably benign
IGL02281:Ddi2	APN	4	141,419,730 (GRCm39)	missense	probably benign	0.18
IGL02395:Ddi2	APN	4	141,422,725 (GRCm39)	missense	possibly damaging	0.86
IGL03103:Ddi2	APN	4	141,430,479 (GRCm39)	missense	probably damaging	1.00
IGL03220:Ddi2	APN	4	141,435,767 (GRCm39)	missense	probably benign
R0350:Ddi2	UTSW	4	141,412,834 (GRCm39)	missense	probably benign	0.30
R0467:Ddi2	UTSW	4	141,412,495 (GRCm39)	missense	probably benign	0.02
R0577:Ddi2	UTSW	4	141,411,818 (GRCm39)	missense	possibly damaging	0.50
R1706:Ddi2	UTSW	4	141,411,308 (GRCm39)	missense	probably benign	0.00
R1801:Ddi2	UTSW	4	141,411,283 (GRCm39)	missense	probably damaging	0.96
R1839:Ddi2	UTSW	4	141,440,837 (GRCm39)	missense	probably benign	0.08
R1878:Ddi2	UTSW	4	141,411,460 (GRCm39)	missense	probably benign	0.08
R2113:Ddi2	UTSW	4	141,430,591 (GRCm39)	splice site	probably null
R3906:Ddi2	UTSW	4	141,411,592 (GRCm39)	missense	probably benign	0.05
R3907:Ddi2	UTSW	4	141,411,592 (GRCm39)	missense	probably benign	0.05
R3908:Ddi2	UTSW	4	141,411,592 (GRCm39)	missense	probably benign	0.05
R4911:Ddi2	UTSW	4	141,411,713 (GRCm39)	missense	probably benign	0.28
R5296:Ddi2	UTSW	4	141,412,076 (GRCm39)	missense	probably benign	0.01
R5383:Ddi2	UTSW	4	141,412,163 (GRCm39)	missense	probably damaging	1.00
R5768:Ddi2	UTSW	4	141,412,901 (GRCm39)	missense	probably damaging	1.00
R5874:Ddi2	UTSW	4	141,422,780 (GRCm39)	missense	probably damaging	0.97
R6359:Ddi2	UTSW	4	141,411,899 (GRCm39)	missense	probably damaging	0.99
R6603:Ddi2	UTSW	4	141,411,181 (GRCm39)	missense	probably damaging	1.00
R6991:Ddi2	UTSW	4	141,412,561 (GRCm39)	missense	probably benign	0.22
R7108:Ddi2	UTSW	4	141,433,248 (GRCm39)	missense	probably benign
R7838:Ddi2	UTSW	4	141,412,561 (GRCm39)	missense	probably benign	0.22
R8935:Ddi2	UTSW	4	141,412,600 (GRCm39)	missense	probably damaging	0.97
R9015:Ddi2	UTSW	4	141,412,747 (GRCm39)	missense	probably benign	0.00
R9095:Ddi2	UTSW	4	141,419,590 (GRCm39)	missense	probably benign	0.03
R9709:Ddi2	UTSW	4	141,412,429 (GRCm39)	missense	probably benign	0.25
R9711:Ddi2	UTSW	4	141,422,734 (GRCm39)	missense	probably benign	0.20
R9760:Ddi2	UTSW	4	141,411,196 (GRCm39)	missense	probably damaging	1.00
T0722:Ddi2	UTSW	4	141,440,784 (GRCm39)	start gained	probably benign

Posted On

2014-05-07