Mutagenetix > Incidental Mutations

Incidental Mutation 'R5296:Ddi2'

405401

Institutional Source

Beutler Lab

Gene Symbol

Ddi2

Ensembl Gene

ENSMUSG00000078515

Gene Name

DNA-damage inducible protein 2

Synonyms

MMRRC Submission

042879-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141677549-141723419 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 141684765 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 279 (Q279K)

Ref Sequence

ENSEMBL: ENSMUSP00000136018 (fasta)

Gene Model

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

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: Q279K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101408
Gene: ENSMUSG00000040715
AA Change: Q279K

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: Q279K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515
AA Change: Q279K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,588,024	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,862,968		probably benign	Het
Cacna1s	G	A	1: 136,095,785	V674M	probably benign	Het
Cavin2	T	C	1: 51,289,870		probably null	Het
Cd300lb	T	C	11: 114,924,937	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,673,196	V132A	probably benign	Het
Dnah11	A	G	12: 117,883,416	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Epsti1	T	A	14: 77,904,650	H55Q	probably benign	Het
Flad1	T	C	3: 89,411,196	T17A	probably damaging	Het
Fzd2	C	T	11: 102,606,155	T475M	probably damaging	Het
Gemin5	C	A	11: 58,130,061	W1099L	probably damaging	Het
Gm8979	A	T	7: 106,081,848		noncoding transcript	Het
Gm9892	T	C	8: 52,196,929		noncoding transcript	Het
Gmeb2	A	G	2: 181,255,986		probably benign	Het
Grip1	A	G	10: 119,929,928	E55G	probably damaging	Het
Hltf	T	C	3: 20,108,112	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,241,939	Q902L	probably null	Het
Kcnt2	C	T	1: 140,609,615	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lama5	A	C	2: 180,193,801	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,724,582	S230A	probably benign	Het
Lmcd1	A	G	6: 112,315,588	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,774,482	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,991,738	I234N	probably damaging	Het
Mroh3	A	G	1: 136,196,323	S386P	probably damaging	Het
Mylk3	A	C	8: 85,355,431	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,333,388	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,605,745	S2G	unknown	Het
Olfr1269	A	T	2: 90,118,699	W300R	probably damaging	Het
Olfr136	C	T	17: 38,335,456	Q100*	probably null	Het
Olfr419	G	T	1: 174,250,756	T57K	possibly damaging	Het
Olfr908	T	C	9: 38,516,116	F28S	probably damaging	Het
Pkd1	T	C	17: 24,576,074	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,817,118	T1539I	possibly damaging	Het
Plch2	G	T	4: 154,989,999		probably null	Het
Pygm	G	A	19: 6,384,579	R34H	probably damaging	Het
Rgs12	T	C	5: 35,021,104		probably benign	Het
Ruvbl1	T	C	6: 88,485,908	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,026,731	Q104L	probably damaging	Het
Satb2	T	C	1: 56,796,907	E575G	probably damaging	Het
Sema6b	T	A	17: 56,127,091		probably null	Het
Slc25a11	T	C	11: 70,646,185	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,860,646	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,587,510	T906K	possibly damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Traf2	A	G	2: 25,520,440	L399P	probably damaging	Het
Troap	T	A	15: 99,078,817	V274D	probably damaging	Het
Utrn	G	A	10: 12,401,355	T3406M	probably damaging	Het
Uts2	G	T	4: 150,999,051	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,554,341	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 85,137,022	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,413	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,912,188	M51K	probably damaging	Het
Zfp60	T	A	7: 27,738,530		probably benign	Het
Zfp882	T	A	8: 71,914,360	F344I	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
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
R6991:Ddi2	UTSW	4	141685250	missense	probably benign	0.22
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
T0722:Ddi2	UTSW	4	141713473	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGTTCTTTCAAGGCCACTGTG -3'
(R):5'- TCATCTTCCCAGTGCAGAGAAG -3'

Sequencing Primer
(F):5'- CTTTCAAGGCCACTGTGACAGATG -3'
(R):5'- AGAAGGGTCTTCCAGCTTCAG -3'

Posted On

2016-07-22