Mutagenetix > Incidental Mutation

Incidental Mutation 'R4133:Ddx60'

314745

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

041637-MU

Accession Numbers

Essential gene?

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

Stock #

R4133 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61928087-62038244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61972220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 681 (K681E)

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: K680E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: K680E

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: K681E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: K681E

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

Meta Mutation Damage Score

0.1456

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (77/79)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	T	A	9: 60,769,998 (GRCm38)		noncoding transcript	Het
Aldh3b1	A	G	19: 3,920,808 (GRCm38)	I184T	probably damaging	Het
Arhgap42	C	T	9: 9,011,299 (GRCm38)		probably benign	Het
Arhgef4	A	G	1: 34,806,104 (GRCm38)	D1463G	probably damaging	Het
Arpc5	A	G	1: 152,768,871 (GRCm38)	T52A	probably benign	Het
Asb6	A	G	2: 30,828,235 (GRCm38)		probably benign	Het
Ash1l	T	C	3: 88,982,260 (GRCm38)	V482A	probably benign	Het
Bop1	T	C	15: 76,454,335 (GRCm38)	N469S	probably benign	Het
Btaf1	T	A	19: 36,961,738 (GRCm38)	N266K	probably benign	Het
Btla	T	C	16: 45,239,298 (GRCm38)	Y122H	probably damaging	Het
Cacna1g	A	G	11: 94,432,544 (GRCm38)	M1278T	probably damaging	Het
Cdc42bpb	A	G	12: 111,321,542 (GRCm38)	S524P	probably benign	Het
Cep78	A	G	19: 15,969,155 (GRCm38)	S438P	probably damaging	Het
Clca4a	T	G	3: 144,969,352 (GRCm38)	E171D	probably benign	Het
Cldn6	A	T	17: 23,681,493 (GRCm38)	I144F	probably damaging	Het
Cpd	G	A	11: 76,814,818 (GRCm38)	Q363*	probably null	Het
Cpn1	G	A	19: 43,986,284 (GRCm38)	P2L	possibly damaging	Het
Ddx31	A	G	2: 28,858,852 (GRCm38)	D264G	probably damaging	Het
Ddx39b	C	T	17: 35,253,089 (GRCm38)	S368L	probably damaging	Het
Dennd1c	A	C	17: 57,076,980 (GRCm38)	W15G	possibly damaging	Het
Dgkd	T	G	1: 87,941,501 (GRCm38)		probably null	Het
Dnah7c	G	T	1: 46,665,990 (GRCm38)	A2388S	probably benign	Het
Etv4	C	A	11: 101,770,498 (GRCm38)	K442N	probably damaging	Het
Fam234a	T	C	17: 26,213,558 (GRCm38)	D539G	probably damaging	Het
Fam71a	A	T	1: 191,163,008 (GRCm38)	N479K	probably benign	Het
Fancm	A	G	12: 65,120,530 (GRCm38)	T1538A	probably benign	Het
Fbn2	A	T	18: 58,095,962 (GRCm38)	N725K	possibly damaging	Het
Fcer2a	T	A	8: 3,691,130 (GRCm38)	N4I	possibly damaging	Het
Fgd5	T	C	6: 92,069,437 (GRCm38)	V1229A	probably damaging	Het
Gm5471	A	T	15: 44,971,901 (GRCm38)		noncoding transcript	Het
Gm5478	T	A	15: 101,644,645 (GRCm38)	I331F	probably damaging	Het
Gm6729	C	A	10: 86,541,166 (GRCm38)		noncoding transcript	Het
Hectd4	G	T	5: 121,277,834 (GRCm38)		probably null	Het
Hspb3	A	C	13: 113,663,491 (GRCm38)	M1R	probably null	Het
Igkv10-95	T	C	6: 68,680,617 (GRCm38)	V19A	probably damaging	Het
Il1rap	A	G	16: 26,722,886 (GRCm38)	S626G	probably benign	Het
Ints9	A	G	14: 64,990,554 (GRCm38)	H103R	probably benign	Het
Itga4	T	A	2: 79,322,652 (GRCm38)	D894E	probably damaging	Het
Khsrp	T	C	17: 57,025,605 (GRCm38)	H225R	probably benign	Het
Lama1	A	T	17: 67,812,486 (GRCm38)	I2653F	probably damaging	Het
Lama1	T	C	17: 67,750,655 (GRCm38)	Y575H	probably damaging	Het
Map4k5	A	T	12: 69,845,723 (GRCm38)	L144Q	probably damaging	Het
Mcm5	A	G	8: 75,115,854 (GRCm38)	Y252C	probably damaging	Het
Mmgt2	A	G	11: 62,665,051 (GRCm38)	E75G	probably damaging	Het
Mroh2a	A	T	1: 88,254,965 (GRCm38)	N1205I	possibly damaging	Het
Nckap5	A	G	1: 126,222,706 (GRCm38)	V162A	probably benign	Het
Nr3c2	T	C	8: 76,909,749 (GRCm38)	I493T	probably damaging	Het
Olfr1411	T	C	1: 92,596,743 (GRCm38)	F75L	probably benign	Het
Olfr325	A	T	11: 58,581,075 (GRCm38)	Y77F	probably damaging	Het
Olfr698	A	C	7: 106,753,079 (GRCm38)	L103R	probably damaging	Het
Papola	A	G	12: 105,799,658 (GRCm38)	T6A	possibly damaging	Het
Ppp1cc	G	A	5: 122,168,226 (GRCm38)	R36Q	probably benign	Het
Ptpro	G	T	6: 137,420,372 (GRCm38)	W81C	probably damaging	Het
Rasgrf2	A	G	13: 91,982,654 (GRCm38)	S162P	possibly damaging	Het
Rpusd2	T	C	2: 119,038,715 (GRCm38)	S540P	probably damaging	Het
Scn5a	T	A	9: 119,486,372 (GRCm38)	T1757S	probably damaging	Het
Setbp1	T	C	18: 78,856,991 (GRCm38)	I1154V	probably benign	Het
Sirt1	T	C	10: 63,335,659 (GRCm38)	I209V	probably null	Het
Slco6c1	T	A	1: 97,081,493 (GRCm38)	I406L	probably benign	Het
Smc2	A	G	4: 52,450,947 (GRCm38)	E255G	probably damaging	Het
Snap91	C	A	9: 86,777,049 (GRCm38)	G477V	probably damaging	Het
Speg	A	G	1: 75,427,904 (GRCm38)	Q2780R	probably benign	Het
Ssh2	A	G	11: 77,421,269 (GRCm38)	Y196C	probably damaging	Het
Ssxb9	A	T	X: 8,369,606 (GRCm38)	T18S	probably damaging	Het
Stxbp5l	T	C	16: 37,208,119 (GRCm38)	I527M	possibly damaging	Het
Tex10	T	C	4: 48,468,968 (GRCm38)	Y69C	probably damaging	Het
Theg	T	C	10: 79,580,050 (GRCm38)	T236A	probably damaging	Het
Thoc3	T	C	13: 54,468,548 (GRCm38)	D87G	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trps1	T	C	15: 50,831,387 (GRCm38)	K213R	probably damaging	Het
Uggt1	A	T	1: 36,158,159 (GRCm38)	L1221Q	probably damaging	Het
Vmn2r3	T	A	3: 64,275,717 (GRCm38)	Y187F	probably damaging	Het
Washc2	G	A	6: 116,258,930 (GRCm38)	E1121K	probably damaging	Het
Zfx	T	C	X: 94,080,858 (GRCm38)	N360D	probably damaging	Het
Znhit3	A	G	11: 84,916,313 (GRCm38)	V10A	probably benign	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
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
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'- TGGTGAGTAAGAGAGTAAGTGTCATG -3'
(R):5'- GTGCAAACACAGCTCTTTTAGAATT -3'

Sequencing Primer
(F):5'- TAAGCTAGGTGGTTGAGC -3'
(R):5'- TCCCCAAGAGAAGGTTGGTC -3'

Posted On

2015-05-14