Mutagenetix > Incidental Mutations

Incidental Mutation 'R4964:Ddx60'

383795

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

042561-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R4964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61928087-62038244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61979338 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 885 (V885I)

Ref Sequence

ENSEMBL: ENSMUSP00000091197 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000070631
AA Change: V884I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: V884I

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

probably damaging
Transcript: ENSMUST00000093485
AA Change: V885I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: V885I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153806

Meta Mutation Damage Score

0.3664

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,474,221		probably benign	Het
9030619P08Rik	T	A	15: 75,431,418		noncoding transcript	Het
9030624J02Rik	T	C	7: 118,780,268	I426T	possibly damaging	Het
A430033K04Rik	G	T	5: 138,646,857	E335*	probably null	Het
Abcb1b	A	T	5: 8,812,671	T118S	probably benign	Het
Abcb1b	T	A	5: 8,861,602	I133N	probably damaging	Het
Acox3	A	G	5: 35,589,736	N166D	probably damaging	Het
Adam5	T	C	8: 24,786,232	Y473C	probably damaging	Het
Ankmy2	A	G	12: 36,186,918	K242E	possibly damaging	Het
Apc2	A	C	10: 80,314,007	I1603L	probably benign	Het
Arhgef25	T	A	10: 127,185,603	I249F	probably damaging	Het
Birc3	T	C	9: 7,860,552	H255R	probably benign	Het
Cables1	A	T	18: 11,941,277	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,507,161	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,180,845	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,861,152	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516		probably null	Het
Cdc34b	A	T	11: 94,742,261	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,622,073	F69L	possibly damaging	Het
Cul9	C	T	17: 46,538,525	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,455,693	V208A	probably benign	Het
Cyb5rl	A	G	4: 107,069,132		probably benign	Het
Ddx18	T	C	1: 121,566,094	K54E	probably benign	Het
Dlg1	C	T	16: 31,754,808	T9I	probably benign	Het
Dnase1	T	C	16: 4,037,907		probably benign	Het
Drd4	T	C	7: 141,293,777	M114T	probably damaging	Het
Egfr	A	T	11: 16,908,949	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,880,011	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,428,721	H591R	probably benign	Het
Galntl6	T	C	8: 58,699,911		probably benign	Het
Glipr1l2	T	A	10: 112,106,999	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,677,234	M115K	probably benign	Het
Gtsf2	T	C	15: 103,444,328	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,585,220		probably null	Het
Hydin	A	T	8: 110,490,673	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,505,086	V483A	probably benign	Het
Ints11	T	C	4: 155,886,928	F278L	probably damaging	Het
Ints6	A	G	14: 62,702,462	L593P	probably damaging	Het
Krt7	C	T	15: 101,413,972	R104C	probably damaging	Het
Map4k1	A	T	7: 28,983,002	H16L	probably benign	Het
Mef2d	T	A	3: 88,168,097	I422N	probably damaging	Het
Mipep	G	T	14: 60,784,782	R32L	probably damaging	Het
Mon1a	A	G	9: 107,902,651	E473G	probably damaging	Het
Mterf2	T	A	10: 85,120,115	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,555,663	Y324F	probably benign	Het
Myh11	T	C	16: 14,205,954	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,515,976	F370I	probably damaging	Het
Myo5c	T	A	9: 75,297,509	M1548K	possibly damaging	Het
Myof	T	A	19: 37,935,852	I1306F	probably damaging	Het
Nle1	A	G	11: 82,908,192	F21S	probably damaging	Het
Noc2l	C	G	4: 156,245,911	D513E	probably damaging	Het
Olfr23	A	T	11: 73,941,202	I319F	probably benign	Het
Olfr30	A	G	11: 58,455,907	V14A	probably benign	Het
Orc1	T	C	4: 108,614,473	*841R	probably null	Het
Patz1	A	G	11: 3,307,720	D573G	probably damaging	Het
Pcdhga3	A	G	18: 37,676,101	T536A	probably benign	Het
Pde6h	C	T	6: 136,961,203	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 95,070,783	I275V	probably benign	Het
Pkd1	T	C	17: 24,586,068		probably null	Het
Polr1e	G	A	4: 45,029,429	A297T	probably damaging	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Rbm34	T	C	8: 126,951,337	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,112,149	M1K	probably null	Het
Rnf32	G	A	5: 29,198,578	R7H	probably benign	Het
Ryr2	T	C	13: 11,714,611	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,833,992	T361A	probably benign	Het
Serpina3m	T	C	12: 104,389,101	I9T	probably benign	Het
Serpinb9	T	A	13: 33,008,864	W135R	probably damaging	Het
Sf3b1	T	C	1: 54,999,712	N804S	probably benign	Het
Shroom1	A	G	11: 53,465,172	T350A	probably benign	Het
Slc24a5	G	A	2: 125,068,268	V30I	probably benign	Het
Slc38a8	A	T	8: 119,482,684		probably null	Het
Smarcd1	A	G	15: 99,707,981	S378G	possibly damaging	Het
Stx1b	T	C	7: 127,807,921	I55V	probably damaging	Het
Sult2a8	A	G	7: 14,425,532	V54A	probably damaging	Het
Tacc2	T	C	7: 130,728,777	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,458,174	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,973,473	I114T	probably benign	Het
Tmco6	T	C	18: 36,735,502		probably null	Het
Treh	T	C	9: 44,682,648	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,249,554	C30*	probably null	Het
Ttbk2	A	T	2: 120,773,277	F258L	possibly damaging	Het
Ttn	T	C	2: 76,955,036	D665G	probably damaging	Het
Unc93b1	T	C	19: 3,942,023		probably null	Het
Uroc1	T	C	6: 90,345,394	L300P	probably damaging	Het
Xbp1	A	G	11: 5,521,125	E44G	probably damaging	Het
Zfp451	A	T	1: 33,777,861	V119D	probably damaging	Het
Zfp457	T	A	13: 67,293,278	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,915,851	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,560,403	L171R	probably benign	Het
Zfp712	C	T	13: 67,040,612	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,197,387	N67S	probably benign	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
IGL02302:Ddx60	APN	8	61975832	missense	possibly damaging	0.85
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	splice site	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
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
R7904:Ddx60	UTSW	8	61977890	missense	possibly damaging	0.81
R7992:Ddx60	UTSW	8	61954535	missense	probably benign	0.03
R8124:Ddx60	UTSW	8	61983911	missense	probably benign
R8125:Ddx60	UTSW	8	61983911	missense	probably benign
R8126:Ddx60	UTSW	8	61983911	missense	probably benign
R8155:Ddx60	UTSW	8	62017171	missense	possibly damaging	0.61
R8174:Ddx60	UTSW	8	62017250	splice site	probably null
R8192:Ddx60	UTSW	8	61977968	missense	probably damaging	1.00
R8271:Ddx60	UTSW	8	61940108	critical splice donor site	probably null
R8301:Ddx60	UTSW	8	62000597	missense	probably benign	0.01
R8304:Ddx60	UTSW	8	61998769	missense	possibly damaging	0.67
R8319:Ddx60	UTSW	8	61942635	critical splice donor site	probably null
R8374:Ddx60	UTSW	8	61974171	missense	probably benign	0.01
R8401:Ddx60	UTSW	8	61956243	missense	possibly damaging	0.57
R8487:Ddx60	UTSW	8	61974150	missense	probably damaging	1.00
R8804:Ddx60	UTSW	8	61958606	missense	probably benign	0.27
X0003:Ddx60	UTSW	8	62033417	missense	possibly damaging	0.88
X0019:Ddx60	UTSW	8	61963692	missense	probably benign	0.01
Z1177:Ddx60	UTSW	8	62000588	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACGATACATTCAGGACTCATAAGC -3'
(R):5'- TCAGGGGAAACTTGTGTCATGAG -3'

Sequencing Primer
(F):5'- CAGGACTCATAAGCTTTACCTCATG -3'
(R):5'- TGAGAGATTAATTCCTATCTCTCCAC -3'

Posted On

2016-04-27