Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Ddx60'

370762

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R4807 (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 (GRCm38)

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]

AlphaFold

E9PZQ1

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,540,609 (GRCm38)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,477,116 (GRCm38)	D386E	probably damaging	Het
Ahdc1	C	A	4: 133,064,313 (GRCm38)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,977,235 (GRCm38)	Y122H	probably benign	Het
Apc2	G	T	10: 80,314,362 (GRCm38)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,646,637 (GRCm38)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,628 (GRCm38)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899 (GRCm38)		probably benign	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Aspm	T	A	1: 139,477,919 (GRCm38)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,898,482 (GRCm38)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,754,509 (GRCm38)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm38)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 124,029,297 (GRCm38)	Y223C	probably damaging	Het
Clcn3	C	A	8: 60,934,530 (GRCm38)	L201F	probably damaging	Het
Cltc	A	C	11: 86,701,076 (GRCm38)		probably benign	Het
Cyp19a1	G	T	9: 54,176,646 (GRCm38)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,419,461 (GRCm38)	F248L	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm38)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,273,448 (GRCm38)	V761E	probably damaging	Het
Endou	C	T	15: 97,731,232 (GRCm38)	C13Y	probably benign	Het
Ep400	C	A	5: 110,695,578 (GRCm38)		probably null	Het
Fbxo33	C	A	12: 59,219,212 (GRCm38)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,041,362 (GRCm38)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,598,245 (GRCm38)	I34V	probably benign	Het
Ghdc	T	C	11: 100,770,225 (GRCm38)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm38)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm38)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,864,498 (GRCm38)	S3G	probably damaging	Het
Grk4	A	T	5: 34,752,208 (GRCm38)	M539L	probably benign	Het
Gulo	C	T	14: 65,990,384 (GRCm38)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,877,520 (GRCm38)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 64,825,549 (GRCm38)		probably benign	Het
Ighg2b	T	C	12: 113,304,345 (GRCm38)		probably benign	Het
Il1b	A	T	2: 129,370,306 (GRCm38)	C9S	probably benign	Het
Itpkb	A	T	1: 180,334,875 (GRCm38)		probably benign	Het
Kcnn1	T	A	8: 70,848,178 (GRCm38)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,057,285 (GRCm38)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,247,921 (GRCm38)		probably benign	Het
Lyg2	A	T	1: 37,911,067 (GRCm38)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,166,133 (GRCm38)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,597,422 (GRCm38)		probably null	Het
Mastl	A	G	2: 23,132,843 (GRCm38)	S623P	probably benign	Het
Mccc1	T	C	3: 35,985,046 (GRCm38)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm38)		probably null	Het
Med25	T	A	7: 44,884,619 (GRCm38)	T31S	probably benign	Het
Mprip	G	A	11: 59,758,020 (GRCm38)	G850D	probably benign	Het
Mrpl10	T	C	11: 97,041,623 (GRCm38)	I8T	probably benign	Het
Msr1	T	C	8: 39,642,627 (GRCm38)		probably benign	Het
Myo3b	T	A	2: 70,105,712 (GRCm38)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,678,655 (GRCm38)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,218,723 (GRCm38)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm38)		probably null	Het
Ntn4	C	T	10: 93,644,500 (GRCm38)	R29C	probably damaging	Het
Olfr74	T	A	2: 87,973,751 (GRCm38)	I305L	probably benign	Het
Plppr2	A	G	9: 21,944,514 (GRCm38)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,740,385 (GRCm38)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars	A	G	11: 35,809,146 (GRCm38)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,614,633 (GRCm38)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,019,304 (GRCm38)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,189,527 (GRCm38)	I918V	probably benign	Het
Sdhc	T	C	1: 171,136,057 (GRCm38)	Y80C	probably damaging	Het
Selp	T	A	1: 164,143,936 (GRCm38)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,500,487 (GRCm38)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,669,469 (GRCm38)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,590,275 (GRCm38)		probably null	Het
Strip2	T	A	6: 29,925,093 (GRCm38)	Y143*	probably null	Het
Sycp2	T	C	2: 178,393,961 (GRCm38)		probably benign	Het
Tex30	C	A	1: 44,086,958 (GRCm38)	V204L	possibly damaging	Het
Tex45	A	G	8: 3,479,004 (GRCm38)	K193R	possibly damaging	Het
Tln2	G	T	9: 67,331,733 (GRCm38)	T1087K	probably benign	Het
Tmeff2	A	C	1: 50,979,387 (GRCm38)	N176T	probably benign	Het
Togaram2	C	G	17: 71,697,923 (GRCm38)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,634,382 (GRCm38)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,831,229 (GRCm38)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,011,605 (GRCm38)	W119*	probably null	Het
Vps29	T	G	5: 122,362,888 (GRCm38)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,463,749 (GRCm38)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,628,022 (GRCm38)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,212,206 (GRCm38)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,645,866 (GRCm38)		probably benign	Het
Zfp638	G	A	6: 83,943,058 (GRCm38)	R546H	probably damaging	Het
Zfp820	A	T	17: 21,823,872 (GRCm38)	M1K	probably null	Het

Other mutations in Ddx60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ddx60	APN	8	61,958,646 (GRCm38)	missense	probably damaging	1.00
IGL00915:Ddx60	APN	8	61,987,431 (GRCm38)	missense	possibly damaging	0.79
IGL00931:Ddx60	APN	8	61,969,583 (GRCm38)	missense	probably benign	0.18
IGL01023:Ddx60	APN	8	61,942,514 (GRCm38)	missense	probably damaging	0.99
IGL01313:Ddx60	APN	8	61,982,526 (GRCm38)	missense	probably damaging	1.00
IGL01615:Ddx60	APN	8	61,963,740 (GRCm38)	missense	probably null	0.81
IGL01733:Ddx60	APN	8	61,983,865 (GRCm38)	missense	probably damaging	0.99
IGL01779:Ddx60	APN	8	62,017,823 (GRCm38)	missense	possibly damaging	0.94
IGL01900:Ddx60	APN	8	62,000,709 (GRCm38)	splice site	probably benign
IGL02110:Ddx60	APN	8	62,017,247 (GRCm38)	critical splice donor site	probably null
IGL02302:Ddx60	APN	8	61,975,832 (GRCm38)	missense	possibly damaging	0.85
IGL02468:Ddx60	APN	8	61,958,642 (GRCm38)	missense	probably damaging	1.00
IGL02569:Ddx60	APN	8	62,024,951 (GRCm38)	missense	possibly damaging	0.93
IGL02622:Ddx60	APN	8	61,942,436 (GRCm38)	splice site	probably null
IGL02657:Ddx60	APN	8	61,984,115 (GRCm38)	missense	probably benign	0.01
IGL02677:Ddx60	APN	8	61,988,132 (GRCm38)	missense	probably damaging	1.00
IGL02701:Ddx60	APN	8	61,979,341 (GRCm38)	missense	probably damaging	0.96
IGL02806:Ddx60	APN	8	61,956,122 (GRCm38)	missense	probably benign	0.00
IGL03137:Ddx60	APN	8	61,988,083 (GRCm38)	missense	possibly damaging	0.61
IGL03295:Ddx60	APN	8	61,956,121 (GRCm38)	missense	possibly damaging	0.82
IGL03387:Ddx60	APN	8	62,012,449 (GRCm38)	missense	probably damaging	1.00
IGL03411:Ddx60	APN	8	61,977,882 (GRCm38)	critical splice acceptor site	probably null
Scatter	UTSW	8	62,021,314 (GRCm38)	missense	possibly damaging	0.80
shotgun	UTSW	8	62,037,067 (GRCm38)	missense	probably benign	0.28
splay	UTSW	8	62,021,309 (GRCm38)	missense	possibly damaging	0.80
G1Funyon:Ddx60	UTSW	8	62,000,597 (GRCm38)	missense	probably benign	0.01
PIT4504001:Ddx60	UTSW	8	61,958,113 (GRCm38)	missense	probably benign
PIT4677001:Ddx60	UTSW	8	61,972,254 (GRCm38)	missense	possibly damaging	0.87
R0090:Ddx60	UTSW	8	61,942,293 (GRCm38)	missense	probably damaging	1.00
R0266:Ddx60	UTSW	8	62,033,493 (GRCm38)	missense	possibly damaging	0.92
R0325:Ddx60	UTSW	8	61,983,855 (GRCm38)	missense	probably benign	0.00
R0367:Ddx60	UTSW	8	62,017,749 (GRCm38)	missense	possibly damaging	0.78
R0403:Ddx60	UTSW	8	61,994,541 (GRCm38)	splice site	probably benign
R0479:Ddx60	UTSW	8	61,969,657 (GRCm38)	missense	probably damaging	1.00
R0561:Ddx60	UTSW	8	62,017,794 (GRCm38)	missense	possibly damaging	0.93
R0844:Ddx60	UTSW	8	61,987,361 (GRCm38)	missense	probably benign	0.27
R1119:Ddx60	UTSW	8	61,942,544 (GRCm38)	missense	probably damaging	1.00
R1428:Ddx60	UTSW	8	61,958,159 (GRCm38)	splice site	probably benign
R1778:Ddx60	UTSW	8	61,974,176 (GRCm38)	missense	possibly damaging	0.85
R1840:Ddx60	UTSW	8	61,969,553 (GRCm38)	missense	probably damaging	0.99
R1964:Ddx60	UTSW	8	61,948,869 (GRCm38)	missense	probably benign	0.10
R1970:Ddx60	UTSW	8	61,972,206 (GRCm38)	missense	possibly damaging	0.93
R2101:Ddx60	UTSW	8	61,940,645 (GRCm38)	missense	probably damaging	1.00
R2174:Ddx60	UTSW	8	62,017,200 (GRCm38)	missense	probably benign	0.01
R2174:Ddx60	UTSW	8	61,956,141 (GRCm38)	missense	probably damaging	1.00
R2198:Ddx60	UTSW	8	61,958,063 (GRCm38)	missense	possibly damaging	0.79
R2332:Ddx60	UTSW	8	62,037,091 (GRCm38)	missense	probably benign	0.08
R2338:Ddx60	UTSW	8	62,012,436 (GRCm38)	missense	possibly damaging	0.91
R2379:Ddx60	UTSW	8	62,037,088 (GRCm38)	missense	probably damaging	1.00
R4010:Ddx60	UTSW	8	61,956,144 (GRCm38)	missense	probably benign	0.25
R4010:Ddx60	UTSW	8	61,954,535 (GRCm38)	missense	possibly damaging	0.65
R4133:Ddx60	UTSW	8	61,972,220 (GRCm38)	missense	probably damaging	0.99
R4282:Ddx60	UTSW	8	61,994,393 (GRCm38)	missense	probably damaging	0.99
R4382:Ddx60	UTSW	8	61,948,978 (GRCm38)	splice site	probably null
R4561:Ddx60	UTSW	8	61,942,461 (GRCm38)	missense	probably damaging	0.96
R4572:Ddx60	UTSW	8	61,987,421 (GRCm38)	missense	probably damaging	1.00
R4581:Ddx60	UTSW	8	62,023,261 (GRCm38)	missense	possibly damaging	0.90
R4635:Ddx60	UTSW	8	62,037,067 (GRCm38)	missense	probably benign	0.28
R4698:Ddx60	UTSW	8	62,012,424 (GRCm38)	missense	probably benign	0.01
R4858:Ddx60	UTSW	8	62,021,314 (GRCm38)	missense	possibly damaging	0.80
R4964:Ddx60	UTSW	8	61,979,338 (GRCm38)	missense	probably damaging	1.00
R5120:Ddx60	UTSW	8	61,945,906 (GRCm38)	missense	probably benign	0.01
R5187:Ddx60	UTSW	8	61,974,188 (GRCm38)	missense	probably damaging	1.00
R5222:Ddx60	UTSW	8	61,984,158 (GRCm38)	missense	probably damaging	0.99
R5400:Ddx60	UTSW	8	62,010,002 (GRCm38)	missense	possibly damaging	0.65
R5500:Ddx60	UTSW	8	61,950,451 (GRCm38)	missense	probably benign	0.28
R5514:Ddx60	UTSW	8	61,958,057 (GRCm38)	missense	probably damaging	1.00
R5668:Ddx60	UTSW	8	62,000,578 (GRCm38)	missense	probably benign	0.38
R5742:Ddx60	UTSW	8	61,948,921 (GRCm38)	missense	probably benign
R5772:Ddx60	UTSW	8	61,948,897 (GRCm38)	missense	probably damaging	1.00
R5810:Ddx60	UTSW	8	62,012,388 (GRCm38)	nonsense	probably null
R5815:Ddx60	UTSW	8	61,963,722 (GRCm38)	missense	probably damaging	0.98
R5820:Ddx60	UTSW	8	61,956,121 (GRCm38)	missense	possibly damaging	0.82
R5866:Ddx60	UTSW	8	61,940,740 (GRCm38)	missense	probably damaging	1.00
R5881:Ddx60	UTSW	8	62,037,070 (GRCm38)	missense	probably damaging	1.00
R5977:Ddx60	UTSW	8	62,021,410 (GRCm38)	critical splice donor site	probably null
R6048:Ddx60	UTSW	8	62,000,582 (GRCm38)	missense	probably benign	0.01
R6061:Ddx60	UTSW	8	62,023,241 (GRCm38)	missense	probably null	0.01
R6153:Ddx60	UTSW	8	61,945,940 (GRCm38)	missense	possibly damaging	0.47
R6287:Ddx60	UTSW	8	61,950,578 (GRCm38)	missense	probably damaging	1.00
R6415:Ddx60	UTSW	8	61,983,905 (GRCm38)	missense	probably benign	0.00
R6416:Ddx60	UTSW	8	61,998,681 (GRCm38)	missense	probably benign
R6416:Ddx60	UTSW	8	61,977,950 (GRCm38)	missense	probably benign	0.00
R6660:Ddx60	UTSW	8	61,956,239 (GRCm38)	missense	probably benign	0.00
R6694:Ddx60	UTSW	8	62,037,070 (GRCm38)	missense	probably damaging	1.00
R6715:Ddx60	UTSW	8	61,983,890 (GRCm38)	missense	probably benign	0.03
R6720:Ddx60	UTSW	8	62,000,689 (GRCm38)	missense	probably benign	0.10
R6937:Ddx60	UTSW	8	62,037,069 (GRCm38)	missense	probably damaging	1.00
R7153:Ddx60	UTSW	8	61,988,108 (GRCm38)	missense	possibly damaging	0.71
R7274:Ddx60	UTSW	8	61,940,108 (GRCm38)	critical splice donor site	probably null
R7409:Ddx60	UTSW	8	61,958,578 (GRCm38)	missense	probably benign	0.24
R7464:Ddx60	UTSW	8	61,940,674 (GRCm38)	missense	possibly damaging	0.82
R7670:Ddx60	UTSW	8	61,975,792 (GRCm38)	missense	probably damaging	1.00
R7904:Ddx60	UTSW	8	61,977,890 (GRCm38)	missense	possibly damaging	0.81
R7992:Ddx60	UTSW	8	61,954,535 (GRCm38)	missense	probably benign	0.03
R8124:Ddx60	UTSW	8	61,983,911 (GRCm38)	missense	probably benign
R8125:Ddx60	UTSW	8	61,983,911 (GRCm38)	missense	probably benign
R8126:Ddx60	UTSW	8	61,983,911 (GRCm38)	missense	probably benign
R8155:Ddx60	UTSW	8	62,017,171 (GRCm38)	missense	possibly damaging	0.61
R8174:Ddx60	UTSW	8	62,017,250 (GRCm38)	splice site	probably null
R8192:Ddx60	UTSW	8	61,977,968 (GRCm38)	missense	probably damaging	1.00
R8271:Ddx60	UTSW	8	61,940,108 (GRCm38)	critical splice donor site	probably null
R8301:Ddx60	UTSW	8	62,000,597 (GRCm38)	missense	probably benign	0.01
R8304:Ddx60	UTSW	8	61,998,769 (GRCm38)	missense	possibly damaging	0.67
R8319:Ddx60	UTSW	8	61,942,635 (GRCm38)	critical splice donor site	probably null
R8374:Ddx60	UTSW	8	61,974,171 (GRCm38)	missense	probably benign	0.01
R8401:Ddx60	UTSW	8	61,956,243 (GRCm38)	missense	possibly damaging	0.57
R8487:Ddx60	UTSW	8	61,974,150 (GRCm38)	missense	probably damaging	1.00
R8804:Ddx60	UTSW	8	61,958,606 (GRCm38)	missense	probably benign	0.27
R8826:Ddx60	UTSW	8	61,945,956 (GRCm38)	missense	probably benign	0.02
R8829:Ddx60	UTSW	8	61,940,661 (GRCm38)	missense	probably damaging	1.00
R8881:Ddx60	UTSW	8	62,021,309 (GRCm38)	missense	possibly damaging	0.80
R8884:Ddx60	UTSW	8	61,994,519 (GRCm38)	missense	possibly damaging	0.86
R8990:Ddx60	UTSW	8	61,974,134 (GRCm38)	nonsense	probably null
R9122:Ddx60	UTSW	8	61,989,864 (GRCm38)	missense	probably benign	0.16
R9225:Ddx60	UTSW	8	62,017,841 (GRCm38)	missense	probably benign	0.36
R9278:Ddx60	UTSW	8	61,977,978 (GRCm38)	missense	possibly damaging	0.83
R9293:Ddx60	UTSW	8	62,009,960 (GRCm38)	missense	possibly damaging	0.89
R9405:Ddx60	UTSW	8	61,972,214 (GRCm38)	missense	probably benign	0.03
R9766:Ddx60	UTSW	8	62,012,278 (GRCm38)	missense	probably damaging	1.00
X0003:Ddx60	UTSW	8	62,033,417 (GRCm38)	missense	possibly damaging	0.88
X0019:Ddx60	UTSW	8	61,963,692 (GRCm38)	missense	probably benign	0.01
Z1177:Ddx60	UTSW	8	62,000,588 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GACGATACATTCAGGACTCATAAGC -3'
(R):5'- TCAGGGGAAACTTGTGTCATG -3'

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

Posted On

2016-02-04