Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:Ddx60'

671924

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

068641-MU

Accession Numbers

Essential gene?

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

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61928087-62038244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61958606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 497 (D497E)

Ref Sequence

ENSEMBL: ENSMUSP00000091197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070631] [ENSMUST00000093485] [ENSMUST00000154398]

AlphaFold

E9PZQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000070631
AA Change: D497E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: D497E

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 benign
Transcript: ENSMUST00000093485
AA Change: D497E

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: D497E

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

probably benign
Transcript: ENSMUST00000154398
AA Change: D497E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122841
Gene: ENSMUSG00000037921
AA Change: D497E

Domain	Start	End	E-Value	Type
low complexity region	99	110	N/A	INTRINSIC
low complexity region	364	376	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,628,656 (GRCm38)		probably benign	Het
Adamts1	A	G	16: 85,802,412 (GRCm38)	F100S	probably damaging	Het
Adamts5	A	G	16: 85,869,912 (GRCm38)		probably benign	Het
Adgrb2	T	A	4: 130,005,419 (GRCm38)	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,847,016 (GRCm38)	V617E	probably damaging	Het
Akt1	T	C	12: 112,658,607 (GRCm38)	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,547,706 (GRCm38)	T600A	probably benign	Het
B4galt3	C	T	1: 171,276,374 (GRCm38)	H395Y	probably benign	Het
BC024139	T	G	15: 76,124,084 (GRCm38)	T376P	possibly damaging	Het
Bin3	A	G	14: 70,123,847 (GRCm38)	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,806 (GRCm38)	I480N	probably damaging	Het
Camsap3	A	G	8: 3,602,624 (GRCm38)	T401A	probably benign	Het
Ccdc168	T	C	1: 44,056,649 (GRCm38)	N1763S	probably benign	Het
Cdhr5	T	C	7: 141,269,407 (GRCm38)	T747A	probably benign	Het
Chn2	A	G	6: 54,273,076 (GRCm38)	I193V	probably benign	Het
Clca3b	T	C	3: 144,839,137 (GRCm38)	N363S	probably benign	Het
Clec7a	T	C	6: 129,465,555 (GRCm38)	T125A	probably benign	Het
Cys1	A	T	12: 24,668,611 (GRCm38)	L81Q	unknown	Het
Dcbld2	G	A	16: 58,461,049 (GRCm38)		probably benign	Het
Dnah2	T	C	11: 69,465,685 (GRCm38)	I2117V	probably benign	Het
Dnah6	G	A	6: 73,065,773 (GRCm38)	S3274F	probably benign	Het
Dock9	A	T	14: 121,605,183 (GRCm38)	I1225N	probably damaging	Het
Egfr	A	G	11: 16,869,339 (GRCm38)	T290A	probably benign	Het
Elmod2	T	A	8: 83,319,521 (GRCm38)	K142N	probably benign	Het
Ephx2	T	C	14: 66,087,020 (GRCm38)	T441A	probably benign	Het
Fam234a	A	G	17: 26,216,557 (GRCm38)		probably benign	Het
Fer1l4	C	A	2: 156,051,994 (GRCm38)	E102D	probably benign	Het
Fermt3	A	G	19: 7,014,326 (GRCm38)		probably benign	Het
Fgd5	C	T	6: 91,987,526 (GRCm38)	R247C	probably benign	Het
Gm14443	G	A	2: 175,169,859 (GRCm38)	H265Y	probably damaging	Het
Gykl1	A	G	18: 52,694,536 (GRCm38)	D272G	probably benign	Het
Hip1r	T	C	5: 124,001,512 (GRCm38)	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,425,381 (GRCm38)	N3714S	probably benign	Het
Ighv1-36	G	T	12: 114,879,961 (GRCm38)	T93K	probably benign	Het
Igsf10	T	G	3: 59,336,455 (GRCm38)	T153P	probably damaging	Het
Kif13b	T	C	14: 64,750,342 (GRCm38)	C773R	probably damaging	Het
Lipf	T	A	19: 33,964,798 (GRCm38)	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,264,904 (GRCm38)	D90G	probably damaging	Het
Msh5	A	T	17: 35,032,854 (GRCm38)	I410K	probably benign	Het
Mylk3	T	C	8: 85,359,245 (GRCm38)	D220G	probably benign	Het
Ncdn	G	A	4: 126,750,105 (GRCm38)	A308V	probably benign	Het
Nfu1	T	A	6: 87,016,432 (GRCm38)		probably benign	Het
Nup153	A	G	13: 46,687,159 (GRCm38)	V991A	probably benign	Het
Nup188	T	A	2: 30,330,879 (GRCm38)	H960Q	probably benign	Het
Parp4	G	T	14: 56,616,443 (GRCm38)	E839*	probably null	Het
Pfas	T	C	11: 68,991,082 (GRCm38)	N30D		Het
Pitpnc1	T	A	11: 107,212,605 (GRCm38)	N223Y	probably damaging	Het
Plaat1	T	A	16: 29,220,453 (GRCm38)	V95E	probably benign	Het
Plod1	C	T	4: 147,913,321 (GRCm38)	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,880,470 (GRCm38)	T548A	unknown	Het
Psg20	A	T	7: 18,682,659 (GRCm38)	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,200,251 (GRCm38)	I173N	probably damaging	Het
Rimkla	G	A	4: 119,468,076 (GRCm38)	Q379*	probably null	Het
Rnasel	G	T	1: 153,753,915 (GRCm38)	G59V	probably damaging	Het
Rptn	A	T	3: 93,395,843 (GRCm38)	D161V	probably damaging	Het
Scrt1	C	A	15: 76,519,211 (GRCm38)	C193F	unknown	Het
Sdk2	G	T	11: 113,873,152 (GRCm38)	Y269*	probably null	Het
Sfxn2	G	C	19: 46,585,804 (GRCm38)		probably benign	Het
Slc17a4	G	T	13: 23,903,262 (GRCm38)	T264K	probably benign	Het
Slfn8	T	A	11: 83,016,813 (GRCm38)	Q301H	possibly damaging	Het
Sntb1	G	A	15: 55,792,127 (GRCm38)	S231F	probably benign	Het
Spag17	T	A	3: 99,967,190 (GRCm38)	S137T	probably benign	Het
Srd5a2	A	T	17: 74,047,634 (GRCm38)	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,535,256 (GRCm38)	H967R	probably benign	Het
Sun1	A	G	5: 139,231,165 (GRCm38)	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043 (GRCm38)	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,692,963 (GRCm38)	L15P	probably benign	Het
Tas2r140	T	A	6: 133,055,363 (GRCm38)	N144I	probably damaging	Het
Thpo	T	A	16: 20,725,957 (GRCm38)	R174S	probably damaging	Het
Tnik	A	T	3: 28,594,053 (GRCm38)	Q418L	unknown	Het
Tnr	A	T	1: 159,858,312 (GRCm38)	Q371L	probably benign	Het
Tulp2	G	A	7: 45,520,974 (GRCm38)	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,235,324 (GRCm38)	W29L	probably damaging	Het
Vrk3	T	A	7: 44,757,846 (GRCm38)	C80*	probably null	Het
Washc4	T	C	10: 83,572,151 (GRCm38)	L540P	probably damaging	Het
Wscd1	T	C	11: 71,784,335 (GRCm38)	F356S	probably damaging	Het
Wwc1	A	T	11: 35,883,317 (GRCm38)	M372K	probably benign	Het
Zfhx2	A	G	14: 55,074,734 (GRCm38)	F168L	probably benign	Het
Zfp28	A	G	7: 6,390,400 (GRCm38)	D175G	probably damaging	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
R4807:Ddx60	UTSW	8	61,979,338 (GRCm38)	missense	probably damaging	1.00
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
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'- AGGAGGTCCTGGTTTCTGAAAC -3'
(R):5'- CACACATCTGAATGCCTTAATGAC -3'

Sequencing Primer
(F):5'- CTTGTATCCCAGGAAGAAG -3'
(R):5'- CTGAATGCCTTAATGACTATTCATCC -3'

Posted On

2021-04-30