Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02302:Ddx60'

287416

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 60

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL02302

Quality Score

Status

Chromosome

Chromosomal Location

61928087-62038244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61975832 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 792 (Y792C)

Ref Sequence

ENSEMBL: ENSMUSP00000091197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070631] [ENSMUST00000093485]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070631
AA Change: Y791C

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: Y791C

Domain	Start	End	E-Value	Type
low complexity region	99	110	N/A	INTRINSIC
low complexity region	364	376	N/A	INTRINSIC
DEXDc	758	949	1.05e-15	SMART
Blast:DEXDc	1007	1132	4e-24	BLAST
HELICc	1245	1328	4.35e-13	SMART
low complexity region	1362	1373	N/A	INTRINSIC
Blast:DEXDc	1503	1584	1e-20	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093485
AA Change: Y792C

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: Y792C

Domain	Start	End	E-Value	Type
low complexity region	99	110	N/A	INTRINSIC
low complexity region	364	376	N/A	INTRINSIC
DEXDc	759	950	1.05e-15	SMART
Blast:DEXDc	1008	1133	4e-24	BLAST
HELICc	1246	1329	4.35e-13	SMART
low complexity region	1363	1374	N/A	INTRINSIC
Blast:DEXDc	1504	1585	1e-20	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal immunity to several viruses (IAV, EMCV, SINV) but increased susceptibility to VSV infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,383,098	Q211L	possibly damaging	Het
2210016F16Rik	G	A	13: 58,381,935	R288W	probably damaging	Het
Abca14	T	A	7: 120,318,745		probably benign	Het
Abcb10	A	T	8: 123,958,672	V543D	possibly damaging	Het
Ankrd17	G	A	5: 90,283,198	T909I	probably benign	Het
Arhgef3	A	G	14: 27,362,842	N76S	probably benign	Het
Bbx	A	T	16: 50,224,915	C320S	probably damaging	Het
Cdh23	C	A	10: 60,323,523	V2159F	possibly damaging	Het
Cmtr2	G	A	8: 110,221,504	A149T	probably damaging	Het
Cntnap4	A	G	8: 112,785,903		probably benign	Het
Col6a3	A	T	1: 90,781,760	F1905I	unknown	Het
Dock4	T	C	12: 40,725,777	L573P	probably damaging	Het
Dopey2	A	G	16: 93,810,117	I2103V	probably benign	Het
Ear1	T	G	14: 43,819,047	Q121H	probably benign	Het
Eprs	T	A	1: 185,387,124		probably benign	Het
Ero1l	T	C	14: 45,293,162	K271R	probably benign	Het
Esyt1	A	G	10: 128,512,367	L884P	probably damaging	Het
F2r	T	C	13: 95,604,652	N125S	probably damaging	Het
Fam129b	A	G	2: 32,921,123	I382V	probably benign	Het
Fam217a	T	C	13: 34,911,161	E357G	probably damaging	Het
Gabbr1	C	T	17: 37,054,797	R123W	probably damaging	Het
Gatsl2	G	A	5: 134,135,643	V148I	possibly damaging	Het
Gimap4	T	G	6: 48,690,413	V34G	probably damaging	Het
Gm3248	A	T	14: 5,943,011	V180E	probably benign	Het
Hecw2	A	T	1: 53,933,248	N204K	probably damaging	Het
Ighv1-84	T	A	12: 115,980,929	K42*	probably null	Het
Kcnh7	T	A	2: 62,706,058	Q1060L	probably damaging	Het
Kif3b	T	A	2: 153,316,948	I223N	probably damaging	Het
Lama2	G	A	10: 27,212,043	P913S	probably benign	Het
Lgr4	A	G	2: 110,002,496	I334M	probably damaging	Het
Lrrc45	G	T	11: 120,718,525	E403D	possibly damaging	Het
Mccc2	A	G	13: 99,954,239	L462P	probably damaging	Het
Mfsd13b	T	C	7: 120,998,909	V346A	probably damaging	Het
Muc6	T	C	7: 141,641,496	T1342A	possibly damaging	Het
Mxd3	T	C	13: 55,329,278	N56S	probably benign	Het
Ntn5	G	T	7: 45,694,248	R337L	probably damaging	Het
Nynrin	A	G	14: 55,868,505	K894E	probably benign	Het
Olfr1305	A	C	2: 111,873,542	S104R	possibly damaging	Het
Olfr350	G	T	2: 36,850,703	G219V	probably benign	Het
Olfr447	T	A	6: 42,912,338	Y272N	probably damaging	Het
Olfr859	A	T	9: 19,808,685	R122S	probably damaging	Het
Pappa2	T	C	1: 158,715,001	D1772G	probably benign	Het
Pcdh18	G	T	3: 49,755,938	F309L	probably benign	Het
Pcdhac2	G	T	18: 37,145,953	R662L	probably damaging	Het
Ppp5c	G	A	7: 17,008,630	S261L	possibly damaging	Het
Rc3h1	T	C	1: 160,938,105		probably benign	Het
Rfx8	A	C	1: 39,665,522	S578A	possibly damaging	Het
Rhbdl3	T	G	11: 80,353,681	*405E	probably null	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rnf139	G	T	15: 58,898,757	L210F	probably damaging	Het
Rragc	A	G	4: 123,921,086	R192G	possibly damaging	Het
Ryr3	A	T	2: 112,964,356	V137E	probably damaging	Het
S100pbp	A	T	4: 129,182,441	D30E	probably damaging	Het
Smchd1	A	T	17: 71,358,133		probably benign	Het
Sppl3	T	A	5: 115,082,331	C101S	probably benign	Het
St5	A	G	7: 109,525,331	V1101A	probably damaging	Het
St8sia6	T	C	2: 13,723,513	T74A	probably benign	Het
Sult3a1	A	G	10: 33,866,575	N66S	possibly damaging	Het
Sv2b	T	A	7: 75,124,199	K508M	probably damaging	Het
Terf1	T	C	1: 15,833,402	S275P	probably damaging	Het
Tmed8	G	T	12: 87,174,216	H199N	probably damaging	Het
Tubg2	A	T	11: 101,156,145	Q9L	probably damaging	Het
Ubxn4	C	T	1: 128,256,111		probably benign	Het
Usp34	C	T	11: 23,467,243	T2964I	possibly damaging	Het
Zfp213	A	G	17: 23,557,971	S366P	possibly damaging	Het

Other mutations in Ddx60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ddx60	APN	8	61958646	missense	probably damaging	1.00
IGL00915:Ddx60	APN	8	61987431	missense	possibly damaging	0.79
IGL00931:Ddx60	APN	8	61969583	missense	probably benign	0.18
IGL01023:Ddx60	APN	8	61942514	missense	probably damaging	0.99
IGL01313:Ddx60	APN	8	61982526	missense	probably damaging	1.00
IGL01615:Ddx60	APN	8	61963740	missense	probably null	0.81
IGL01733:Ddx60	APN	8	61983865	missense	probably damaging	0.99
IGL01779:Ddx60	APN	8	62017823	missense	possibly damaging	0.94
IGL01900:Ddx60	APN	8	62000709	splice site	probably benign
IGL02110:Ddx60	APN	8	62017247	critical splice donor site	probably null
IGL02468:Ddx60	APN	8	61958642	missense	probably damaging	1.00
IGL02569:Ddx60	APN	8	62024951	missense	possibly damaging	0.93
IGL02622:Ddx60	APN	8	61942436	unclassified	probably null
IGL02657:Ddx60	APN	8	61984115	missense	probably benign	0.01
IGL02677:Ddx60	APN	8	61988132	missense	probably damaging	1.00
IGL02701:Ddx60	APN	8	61979341	missense	probably damaging	0.96
IGL02806:Ddx60	APN	8	61956122	missense	probably benign	0.00
IGL03137:Ddx60	APN	8	61988083	missense	possibly damaging	0.61
IGL03295:Ddx60	APN	8	61956121	missense	possibly damaging	0.82
IGL03387:Ddx60	APN	8	62012449	missense	probably damaging	1.00
IGL03411:Ddx60	APN	8	61977882	critical splice acceptor site	probably null
PIT4504001:Ddx60	UTSW	8	61958113	missense	probably benign
PIT4677001:Ddx60	UTSW	8	61972254	missense	possibly damaging	0.87
R0090:Ddx60	UTSW	8	61942293	missense	probably damaging	1.00
R0266:Ddx60	UTSW	8	62033493	missense	possibly damaging	0.92
R0325:Ddx60	UTSW	8	61983855	missense	probably benign	0.00
R0367:Ddx60	UTSW	8	62017749	missense	possibly damaging	0.78
R0403:Ddx60	UTSW	8	61994541	splice site	probably benign
R0479:Ddx60	UTSW	8	61969657	missense	probably damaging	1.00
R0561:Ddx60	UTSW	8	62017794	missense	possibly damaging	0.93
R0844:Ddx60	UTSW	8	61987361	missense	probably benign	0.27
R1119:Ddx60	UTSW	8	61942544	missense	probably damaging	1.00
R1428:Ddx60	UTSW	8	61958159	splice site	probably benign
R1778:Ddx60	UTSW	8	61974176	missense	possibly damaging	0.85
R1840:Ddx60	UTSW	8	61969553	missense	probably damaging	0.99
R1964:Ddx60	UTSW	8	61948869	missense	probably benign	0.10
R1970:Ddx60	UTSW	8	61972206	missense	possibly damaging	0.93
R2101:Ddx60	UTSW	8	61940645	missense	probably damaging	1.00
R2174:Ddx60	UTSW	8	61956141	missense	probably damaging	1.00
R2174:Ddx60	UTSW	8	62017200	missense	probably benign	0.01
R2198:Ddx60	UTSW	8	61958063	missense	possibly damaging	0.79
R2332:Ddx60	UTSW	8	62037091	missense	probably benign	0.08
R2338:Ddx60	UTSW	8	62012436	missense	possibly damaging	0.91
R2379:Ddx60	UTSW	8	62037088	missense	probably damaging	1.00
R4010:Ddx60	UTSW	8	61954535	missense	possibly damaging	0.65
R4010:Ddx60	UTSW	8	61956144	missense	probably benign	0.25
R4133:Ddx60	UTSW	8	61972220	missense	probably damaging	0.99
R4282:Ddx60	UTSW	8	61994393	missense	probably damaging	0.99
R4382:Ddx60	UTSW	8	61948978	splice site	probably null
R4561:Ddx60	UTSW	8	61942461	missense	probably damaging	0.96
R4572:Ddx60	UTSW	8	61987421	missense	probably damaging	1.00
R4581:Ddx60	UTSW	8	62023261	missense	possibly damaging	0.90
R4635:Ddx60	UTSW	8	62037067	missense	probably benign	0.28
R4698:Ddx60	UTSW	8	62012424	missense	probably benign	0.01
R4807:Ddx60	UTSW	8	61979338	missense	probably damaging	1.00
R4858:Ddx60	UTSW	8	62021314	missense	possibly damaging	0.80
R4964:Ddx60	UTSW	8	61979338	missense	probably damaging	1.00
R5120:Ddx60	UTSW	8	61945906	missense	probably benign	0.01
R5187:Ddx60	UTSW	8	61974188	missense	probably damaging	1.00
R5222:Ddx60	UTSW	8	61984158	missense	probably damaging	0.99
R5400:Ddx60	UTSW	8	62010002	missense	possibly damaging	0.65
R5500:Ddx60	UTSW	8	61950451	missense	probably benign	0.28
R5514:Ddx60	UTSW	8	61958057	missense	probably damaging	1.00
R5668:Ddx60	UTSW	8	62000578	missense	probably benign	0.38
R5742:Ddx60	UTSW	8	61948921	missense	probably benign
R5772:Ddx60	UTSW	8	61948897	missense	probably damaging	1.00
R5810:Ddx60	UTSW	8	62012388	nonsense	probably null
R5815:Ddx60	UTSW	8	61963722	missense	probably damaging	0.98
R5820:Ddx60	UTSW	8	61956121	missense	possibly damaging	0.82
R5866:Ddx60	UTSW	8	61940740	missense	probably damaging	1.00
R5881:Ddx60	UTSW	8	62037070	missense	probably damaging	1.00
R5977:Ddx60	UTSW	8	62021410	critical splice donor site	probably null
R6048:Ddx60	UTSW	8	62000582	missense	probably benign	0.01
R6061:Ddx60	UTSW	8	62023241	missense	probably null	0.01
R6153:Ddx60	UTSW	8	61945940	missense	possibly damaging	0.47
R6287:Ddx60	UTSW	8	61950578	missense	probably damaging	1.00
R6415:Ddx60	UTSW	8	61983905	missense	probably benign	0.00
R6416:Ddx60	UTSW	8	61977950	missense	probably benign	0.00
R6416:Ddx60	UTSW	8	61998681	missense	probably benign
R6660:Ddx60	UTSW	8	61956239	missense	probably benign	0.00
R6694:Ddx60	UTSW	8	62037070	missense	probably damaging	1.00
R6715:Ddx60	UTSW	8	61983890	missense	probably benign	0.03
R6720:Ddx60	UTSW	8	62000689	missense	probably benign	0.10
R6937:Ddx60	UTSW	8	62037069	missense	probably damaging	1.00
R7153:Ddx60	UTSW	8	61988108	missense	possibly damaging	0.71
R7274:Ddx60	UTSW	8	61940108	critical splice donor site	probably null
R7409:Ddx60	UTSW	8	61958578	missense	probably benign	0.24
R7464:Ddx60	UTSW	8	61940674	missense	possibly damaging	0.82
R7670:Ddx60	UTSW	8	61975792	missense	probably damaging	1.00
X0003:Ddx60	UTSW	8	62033417	missense	possibly damaging	0.88
X0019:Ddx60	UTSW	8	61963692	missense	probably benign	0.01

Posted On

2015-04-16