Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03103:Ddi2'

418836

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: 0.946) question?

Stock #

IGL03103

Quality Score

Status

Chromosome

Chromosomal Location

141410874-141450730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141430479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 235 (M235T)

Ref Sequence

ENSEMBL: ENSMUSP00000099542 (fasta)

Gene Model

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

AlphaFold

A2ADY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000102484
AA Change: M235T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099542
Gene: ENSMUSG00000078515
AA Change: M235T

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 benign
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
Cdc27	A	T	11: 104,403,806 (GRCm39)	F652Y	probably benign	Het
Cntn5	T	C	9: 9,972,817 (GRCm39)		probably benign	Het
Ctsc	A	G	7: 87,959,013 (GRCm39)	N431S	probably benign	Het
Dgkg	G	A	16: 22,399,275 (GRCm39)	P220S	probably damaging	Het
Gpr180	A	T	14: 118,377,175 (GRCm39)	I59F	possibly damaging	Het
Haspin	A	T	11: 73,027,526 (GRCm39)	V521D	probably damaging	Het
Itprid1	A	G	6: 55,945,144 (GRCm39)	T622A	possibly damaging	Het
Kif16b	G	T	2: 142,704,408 (GRCm39)	T57N	probably damaging	Het
Lmbr1	A	G	5: 29,440,014 (GRCm39)	F422S	probably damaging	Het
Lpcat2b	A	T	5: 107,581,414 (GRCm39)	N248Y	probably damaging	Het
Lrch3	T	C	16: 32,772,507 (GRCm39)	V163A	probably damaging	Het
Lrrc49	A	G	9: 60,592,316 (GRCm39)		probably null	Het
Mon2	T	A	10: 122,866,008 (GRCm39)		probably benign	Het
Mroh4	T	C	15: 74,488,008 (GRCm39)	S374G	possibly damaging	Het
Nr1h3	T	A	2: 91,022,360 (GRCm39)	K89N	probably damaging	Het
Or4c29	A	T	2: 88,740,522 (GRCm39)	S72T	probably benign	Het
Or52w1	A	G	7: 105,017,785 (GRCm39)	D75G	probably damaging	Het
Or8b49	A	G	9: 38,505,823 (GRCm39)	Y102C	probably damaging	Het
Phldb3	C	T	7: 24,323,601 (GRCm39)	P445L	possibly damaging	Het
Pstpip1	G	T	9: 56,021,592 (GRCm39)	V39L	possibly damaging	Het
Sbf1	A	T	15: 89,178,150 (GRCm39)	L1560Q	probably damaging	Het
Sco1	C	T	11: 66,946,568 (GRCm39)	Q114*	probably null	Het
Slc29a4	A	G	5: 142,697,835 (GRCm39)	H96R	probably damaging	Het
Slitrk6	A	G	14: 110,987,373 (GRCm39)	L778P	probably benign	Het
Tas2r110	A	G	6: 132,845,443 (GRCm39)	Q158R	probably benign	Het
Tle3	A	G	9: 61,300,524 (GRCm39)	I92V	possibly damaging	Het
Ttn	T	A	2: 76,579,266 (GRCm39)	M15549L	possibly damaging	Het
Urb2	T	G	8: 124,756,491 (GRCm39)	S733A	probably benign	Het
Vcl	T	C	14: 21,074,348 (GRCm39)	W912R	probably damaging	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
IGL02012:Ddi2	APN	4	141,435,529 (GRCm39)	critical splice donor site	probably null
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
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

2016-08-02