Mutagenetix > Incidental Mutation

Incidental Mutation 'R6991:Ddi2'

543832

Institutional Source

Beutler Lab

Gene Symbol

Ddi2

Ensembl Gene

ENSMUSG00000078515

Gene Name

DNA-damage inducible protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R6991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141677549-141723419 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141685250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 117 (V117A)

Ref Sequence

ENSEMBL: ENSMUSP00000136018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102484] [ENSMUST00000105782] [ENSMUST00000177592]

AlphaFold

A2ADY9

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000105782
AA Change: V117A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101408
Gene: ENSMUSG00000040715
AA Change: V117A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177592
AA Change: V117A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515
AA Change: V117A

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,580,446	V278D	probably damaging	Het
2410089E03Rik	A	G	15: 8,252,206	E2843G	unknown	Het
9930021J03Rik	A	G	19: 29,719,108	L995S	possibly damaging	Het
Akap12	G	T	10: 4,357,122	E1311*	probably null	Het
Ankdd1a	T	A	9: 65,508,675	D186V	probably benign	Het
Birc6	A	G	17: 74,562,095	E346G	probably damaging	Het
Ccr7	A	C	11: 99,145,304	V264G	probably damaging	Het
Col7a1	T	C	9: 108,983,919		probably null	Het
Coq8a	T	C	1: 180,179,068	T132A	probably benign	Het
Cyp2b10	G	A	7: 25,917,355	S407N	probably benign	Het
Ddx42	G	A	11: 106,239,144	V421I	probably damaging	Het
Dip2c	T	A	13: 9,551,860	L285*	probably null	Het
Dip2c	C	T	13: 9,634,832	S1232F	probably damaging	Het
Dner	T	A	1: 84,476,402	R402*	probably null	Het
Dpysl3	A	T	18: 43,353,891	I317N	probably damaging	Het
Dusp23	T	A	1: 172,631,657	Y146F	probably benign	Het
Eef1a2	C	A	2: 181,148,628	V412L	possibly damaging	Het
Epha7	C	T	4: 28,821,489	T218I	probably damaging	Het
Gigyf2	T	A	1: 87,407,136	C284S	probably damaging	Het
Gm16427	T	A	5: 93,484,374	N107I	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Hao2	T	A	3: 98,876,752	E327V	probably damaging	Het
Hdhd5	A	G	6: 120,510,169	V409A	probably damaging	Het
Kif9	T	C	9: 110,494,622	Y236H	probably damaging	Het
Kri1	T	C	9: 21,287,754		probably benign	Het
Lig4	A	T	8: 9,971,098	V894E	probably damaging	Het
Lrriq1	T	C	10: 103,187,458	N982S	probably damaging	Het
Mapk8	T	C	14: 33,410,884	I32V	possibly damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mstn	T	C	1: 53,061,941	I59T	probably benign	Het
Mtrf1l	T	C	10: 5,813,384	E315G	probably damaging	Het
Notch4	G	T	17: 34,584,800	E1515*	probably null	Het
Npw	A	C	17: 24,658,055	V124G	probably benign	Het
Nxph3	A	G	11: 95,511,418	S57P	probably damaging	Het
Olfr1000	T	C	2: 85,608,248	I221V	possibly damaging	Het
Olfr1145	G	A	2: 87,810,443	D208N	possibly damaging	Het
Olfr1443	G	T	19: 12,680,748	L213F	probably benign	Het
Olfr493	T	A	7: 108,346,088	N298Y	possibly damaging	Het
Olfr677	T	C	7: 105,056,564	I106T	probably damaging	Het
Opn4	A	T	14: 34,593,907	L390M	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2g2e	G	A	4: 138,880,675	C62Y	probably damaging	Het
Plcb4	G	A	2: 135,910,194	V107M	probably damaging	Het
Prorsd1	A	C	11: 29,514,486		probably benign	Het
Prox2	A	G	12: 85,087,391	L587P	probably benign	Het
Prr22	A	G	17: 56,771,345	D166G	possibly damaging	Het
Ptprz1	G	A	6: 23,002,687	R1592Q	probably benign	Het
Rarg	C	G	15: 102,241,915	R74P	probably damaging	Het
Rcan1	A	G	16: 92,397,363	V54A	probably benign	Het
Rmdn2	A	G	17: 79,621,310		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Serpina1a	T	C	12: 103,853,833	T385A	probably benign	Het
Slc44a3	T	C	3: 121,532,165	Y12C	probably benign	Het
Smg1	C	A	7: 118,167,868		probably benign	Het
Spock3	A	G	8: 63,355,381	*437W	probably null	Het
Sugct	T	A	13: 17,554,380	Q220H	probably benign	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Tnks	C	A	8: 34,834,493	R1274I	probably damaging	Het
Trp53bp1	C	T	2: 121,208,040	R1439H	probably damaging	Het
Vmn1r16	G	T	6: 57,322,884	S251*	probably null	Het
Vmn2r15	T	A	5: 109,293,314	Q226L	probably damaging	Het
Vmn2r67	T	G	7: 85,155,745	Y53S	possibly damaging	Het
Vmn2r99	A	G	17: 19,378,110	N132S	probably benign	Het
Wdr73	T	G	7: 80,891,856	T313P	probably benign	Het
Zfp65	C	T	13: 67,708,521	R213Q	probably damaging	Het

Other mutations in Ddi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Ddi2	APN	4	141695398	splice site	probably benign
IGL02012:Ddi2	APN	4	141708218	critical splice donor site	probably null
IGL02281:Ddi2	APN	4	141692419	missense	probably benign	0.18
IGL02395:Ddi2	APN	4	141695414	missense	possibly damaging	0.86
IGL03103:Ddi2	APN	4	141703168	missense	probably damaging	1.00
IGL03220:Ddi2	APN	4	141708456	missense	probably benign
R0350:Ddi2	UTSW	4	141685523	missense	probably benign	0.30
R0467:Ddi2	UTSW	4	141685184	missense	probably benign	0.02
R0577:Ddi2	UTSW	4	141684507	missense	possibly damaging	0.50
R1706:Ddi2	UTSW	4	141683997	missense	probably benign	0.00
R1801:Ddi2	UTSW	4	141683972	missense	probably damaging	0.96
R1839:Ddi2	UTSW	4	141713526	missense	probably benign	0.08
R1878:Ddi2	UTSW	4	141684149	missense	probably benign	0.08
R2113:Ddi2	UTSW	4	141703280	splice site	probably null
R3906:Ddi2	UTSW	4	141684281	missense	probably benign	0.05
R3907:Ddi2	UTSW	4	141684281	missense	probably benign	0.05
R3908:Ddi2	UTSW	4	141684281	missense	probably benign	0.05
R4911:Ddi2	UTSW	4	141684402	missense	probably benign	0.28
R5296:Ddi2	UTSW	4	141684765	missense	probably benign	0.01
R5383:Ddi2	UTSW	4	141684852	missense	probably damaging	1.00
R5768:Ddi2	UTSW	4	141685590	missense	probably damaging	1.00
R5874:Ddi2	UTSW	4	141695469	missense	probably damaging	0.97
R6359:Ddi2	UTSW	4	141684588	missense	probably damaging	0.99
R6603:Ddi2	UTSW	4	141683870	missense	probably damaging	1.00
R7108:Ddi2	UTSW	4	141705937	missense	probably benign
R7838:Ddi2	UTSW	4	141685250	missense	probably benign	0.22
R8935:Ddi2	UTSW	4	141685289	missense	probably damaging	0.97
R9015:Ddi2	UTSW	4	141685436	missense	probably benign	0.00
R9095:Ddi2	UTSW	4	141692279	missense	probably benign	0.03
R9709:Ddi2	UTSW	4	141685118	missense	probably benign	0.25
R9711:Ddi2	UTSW	4	141695423	missense	probably benign	0.20
R9760:Ddi2	UTSW	4	141683885	missense	probably damaging	1.00
T0722:Ddi2	UTSW	4	141713473	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTCTTCTGCGTCACAAAG -3'
(R):5'- AGGCTTCAGCTGAATTCCAG -3'

Sequencing Primer
(F):5'- TGGAACACTCTGCTGTCCAG -3'
(R):5'- GGCTTCAGCTGAATTCCAGACAAAC -3'

Posted On

2019-05-13