Mutagenetix > Incidental Mutation

Incidental Mutation 'R9095:Ddi2'

691269

Institutional Source

Beutler Lab

Gene Symbol

Ddi2

Ensembl Gene

ENSMUSG00000078515

Gene Name

DNA-damage inducible protein 2

Synonyms

1110056G13Rik, 1700027M01Rik, 9130022E05Rik

MMRRC Submission

068910-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R9095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141410874-141450730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141419590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 387 (I387F)

Ref Sequence

ENSEMBL: ENSMUSP00000099542 (fasta)

Gene Model

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

AlphaFold

A2ADY9

Predicted Effect

probably benign
Transcript: ENSMUST00000102484
AA Change: I387F

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099542
Gene: ENSMUSG00000078515
AA Change: I387F

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,500,370 (GRCm39)	V1274M	probably damaging	Het
Abca4	A	G	3: 121,967,556 (GRCm39)	H2202R	possibly damaging	Het
Ablim3	A	G	18: 61,953,463 (GRCm39)	L350P	probably benign	Het
Adamts17	C	T	7: 66,654,117 (GRCm39)	T449I	probably damaging	Het
Ankrd39	T	A	1: 36,586,241 (GRCm39)	D9V	probably benign	Het
Arhgef7	T	C	8: 11,835,819 (GRCm39)	V192A	probably damaging	Het
Art4	C	T	6: 136,834,269 (GRCm39)		probably benign	Het
Atg4a-ps	A	T	3: 103,553,254 (GRCm39)	V29E	possibly damaging	Het
Ccdc180	A	T	4: 45,949,466 (GRCm39)	K1574*	probably null	Het
Cfap54	T	G	10: 92,846,882 (GRCm39)	T1028P	probably damaging	Het
Clip2	C	T	5: 134,532,254 (GRCm39)	R517H	possibly damaging	Het
Col5a1	A	G	2: 27,914,665 (GRCm39)	T94A	probably benign	Het
Cpne1	T	A	2: 155,918,210 (GRCm39)		probably null	Het
Csnk2a1-ps3	A	T	1: 156,352,213 (GRCm39)	Y138F	probably benign	Het
Cyp2f2	T	A	7: 26,830,667 (GRCm39)	M346K	possibly damaging	Het
D130040H23Rik	AAGAATATATTCTACAGAATATA	AAGAATATA	8: 69,755,748 (GRCm39)		probably null	Het
Dsg1b	A	G	18: 20,523,282 (GRCm39)	N103S	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,156,666 (GRCm39)	I1464V	probably benign	Het
Epha2	A	G	4: 141,044,012 (GRCm39)	Y314C	possibly damaging	Het
Etl4	A	G	2: 20,782,964 (GRCm39)	E675G	probably damaging	Het
Fam114a1	A	C	5: 65,188,733 (GRCm39)	I488L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fn1	A	C	1: 71,647,149 (GRCm39)	I1547S	probably null	Het
Garre1	A	T	7: 33,956,770 (GRCm39)		probably null	Het
Get1	T	A	16: 95,954,244 (GRCm39)		probably benign	Het
Gm14305	T	A	2: 176,413,045 (GRCm39)	Y312*	probably null	Het
Golm2	T	A	2: 121,756,096 (GRCm39)	L375Q	probably damaging	Het
Gpihbp1	A	G	15: 75,469,641 (GRCm39)	T119A	possibly damaging	Het
Harbi1	T	G	2: 91,542,980 (GRCm39)	V147G	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,899 (GRCm39)	Y186C	probably damaging	Het
Ighv13-2	C	A	12: 114,321,494 (GRCm39)	A82S	probably benign	Het
Itpr1	T	A	6: 108,364,352 (GRCm39)	D827E	probably benign	Het
Krtap4-2	C	T	11: 99,525,801 (GRCm39)	G17D	unknown	Het
Ly6a	A	T	15: 74,867,333 (GRCm39)		probably benign	Het
Mad1l1	C	T	5: 140,288,741 (GRCm39)	E203K	probably damaging	Het
Mapk14	C	A	17: 28,934,413 (GRCm39)	D101E	probably benign	Het
Meis3	G	T	7: 15,917,764 (GRCm39)	G306W	probably damaging	Het
Mixl1	T	C	1: 180,524,402 (GRCm39)	D59G	probably benign	Het
Nav2	G	A	7: 49,254,293 (GRCm39)	V2364M	probably damaging	Het
Nell1	T	C	7: 50,506,150 (GRCm39)	S786P	possibly damaging	Het
Or13a25	T	G	7: 140,247,813 (GRCm39)	N197K	probably damaging	Het
Or51e2	C	A	7: 102,391,473 (GRCm39)	V246L	possibly damaging	Het
Or51g1	A	G	7: 102,633,687 (GRCm39)	L228P	probably damaging	Het
Or5b107	T	G	19: 13,143,310 (GRCm39)	S311A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,052 (GRCm39)	D374V	probably damaging	Het
Phactr2	A	G	10: 13,129,386 (GRCm39)	I294T	probably benign	Het
Plekha4	C	T	7: 45,190,492 (GRCm39)	A400V	probably damaging	Het
Pramel21	T	C	4: 143,341,760 (GRCm39)	F63S	probably damaging	Het
Pramel4	C	A	4: 143,794,928 (GRCm39)	D441E	probably benign	Het
Prr12	G	A	7: 44,695,267 (GRCm39)	P1400S	unknown	Het
Prss3b	T	A	6: 41,010,038 (GRCm39)	N99Y	possibly damaging	Het
Rbm6	G	A	9: 107,669,089 (GRCm39)	Q608*	probably null	Het
Scamp1	T	A	13: 94,369,598 (GRCm39)	I76F	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sirt1	A	T	10: 63,158,077 (GRCm39)	S446T	probably damaging	Het
Slc25a54	A	G	3: 109,019,404 (GRCm39)	K336R	probably benign	Het
Spag17	G	T	3: 99,912,092 (GRCm39)	V321F	possibly damaging	Het
Sstr1	A	G	12: 58,259,620 (GRCm39)	Y81C	probably damaging	Het
St8sia4	T	C	1: 95,519,525 (GRCm39)	K321R	probably damaging	Het
Stac3	T	C	10: 127,343,584 (GRCm39)	F242S	probably damaging	Het
Tanc2	T	G	11: 105,758,104 (GRCm39)	S622A	probably benign	Het
Tcf4	G	A	18: 69,598,464 (GRCm39)	D106N	possibly damaging	Het
Tfrc	T	A	16: 32,433,571 (GRCm39)	I75N	possibly damaging	Het
Tigd2	G	A	6: 59,187,509 (GRCm39)	W125*	probably null	Het
Tjp1	T	C	7: 64,952,745 (GRCm39)	T1530A	possibly damaging	Het
Tmem132a	T	A	19: 10,844,412 (GRCm39)	H62L	probably benign	Het
Tmem89	T	C	9: 108,743,729 (GRCm39)	S10P	unknown	Het
Trrap	C	T	5: 144,733,961 (GRCm39)	P938L	probably damaging	Het
Unc80	C	A	1: 66,545,912 (GRCm39)	P488T	probably damaging	Het
Uri1	C	A	7: 37,662,873 (GRCm39)	G374C	probably damaging	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vcan	G	T	13: 89,852,644 (GRCm39)	T772K	probably benign	Het
Zbtb37	A	T	1: 160,847,941 (GRCm39)	Y355*	probably null	Het
Zfp3	A	G	11: 70,662,405 (GRCm39)	I121M	probably benign	Het
Zfp629	A	T	7: 127,209,547 (GRCm39)	L754Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATTTCCTGTCCAGTGGTGCTG -3'
(R):5'- AGGACCGTTTTCTCTGTAGGATAC -3'

Sequencing Primer
(F):5'- CAGTGGTGCTGAGAGACAGGAG -3'
(R):5'- GGATACTTTATCTGCTGTTGTTCTC -3'

Posted On

2021-12-30