Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Ddx60'

676923

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

068749-MU

Accession Numbers

Essential gene?

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

Stock #

R8881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61928087-62038244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 62021309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 1477 (D1477A)

Ref Sequence

ENSEMBL: ENSMUSP00000091197 (fasta)

Gene Model

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

AlphaFold

E9PZQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070631
AA Change: D1476A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: D1476A

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: D1477A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: D1477A

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

0.2001

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,475,571	C612Y	probably benign	Het
Adam21	T	C	12: 81,559,876	T371A	probably benign	Het
Akap9	T	C	5: 3,961,279	S661P		Het
Anxa11	C	T	14: 25,874,263	R233C	probably damaging	Het
Capza3	A	C	6: 140,041,795	D40A	probably damaging	Het
Caskin1	C	A	17: 24,499,299	N294K	probably damaging	Het
Cdh1	T	C	8: 106,666,272	V796A	probably benign	Het
Cped1	A	T	6: 22,119,579	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,115,678	V278D	probably damaging	Het
Dmrtb1	T	C	4: 107,680,725	D82G	possibly damaging	Het
Dnah11	T	C	12: 118,113,912	N1282S	probably benign	Het
Dnah11	C	T	12: 118,126,815	V1104M	probably benign	Het
Dot1l	A	G	10: 80,785,595	E630G	probably damaging	Het
Dppa4	C	A	16: 48,287,936	T28K		Het
Dusp5	T	A	19: 53,541,314	S383T	probably benign	Het
Eef2k	C	T	7: 120,873,325	A87V	probably damaging	Het
Epha1	T	C	6: 42,361,027	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,343,838		probably null	Het
Fam151b	T	A	13: 92,468,122	M120L	probably benign	Het
Fez2	T	C	17: 78,381,622	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,295,774	H886N	probably benign	Het
Galnt17	T	C	5: 130,877,797	H511R	probably benign	Het
Gm17727	T	A	9: 35,778,088		probably benign	Het
Gm8773	A	C	5: 5,575,379	D25A	possibly damaging	Het
Grpel1	C	A	5: 36,469,472	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,694,985		probably null	Het
Hmcn1	C	A	1: 150,649,972	L3333F	probably damaging	Het
Il21r	A	T	7: 125,632,326	T309S	probably benign	Het
Itgal	G	A	7: 127,330,369	V1153M	probably benign	Het
Kdf1	G	A	4: 133,530,343	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,779,284	R151L	probably benign	Het
Lgi3	T	A	14: 70,532,842	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,853,040	H731R	probably benign	Het
Lrp5	A	T	19: 3,591,015	S1482T	probably damaging	Het
Meis2	T	C	2: 116,058,635	D212G	probably benign	Het
Mrgpra9	A	G	7: 47,235,494	C142R	possibly damaging	Het
Mrgprf	A	G	7: 145,308,262	H187R	probably benign	Het
Mvd	A	G	8: 122,437,825		probably null	Het
Neb	T	C	2: 52,206,987	I4938M	possibly damaging	Het
Nipal4	A	T	11: 46,151,350	M168K	probably benign	Het
Nr1h4	A	G	10: 89,483,489	Y158H	probably damaging	Het
Nrxn2	T	C	19: 6,504,890	I1133T	probably benign	Het
Numa1	T	C	7: 102,001,477	Y1472H	probably benign	Het
Olfr1329	A	G	4: 118,917,374	V31A	probably benign	Het
Olfr1380	G	A	11: 49,564,382	V154M	probably benign	Het
Olfr411	T	C	11: 74,346,645	D313G	probably benign	Het
Olfr530	A	G	7: 140,372,785	V275A	probably benign	Het
Olfr652	A	G	7: 104,564,412	M64V	possibly damaging	Het
Pcdha6	G	T	18: 36,968,431	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,531,489	M605I	probably benign	Het
Ppp1r13l	G	A	7: 19,371,269	R322H	probably damaging	Het
Sgtb	T	C	13: 104,121,538		probably null	Het
Skint6	T	C	4: 112,815,519	K1086E	possibly damaging	Het
Slc4a11	T	C	2: 130,685,537	E646G	probably damaging	Het
Speg	G	T	1: 75,401,151	R851L	possibly damaging	Het
Spns3	T	G	11: 72,539,086	D172A	probably damaging	Het
Srgap3	A	G	6: 112,723,137	V984A	probably benign	Het
Syne1	A	T	10: 5,273,639	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,003,362	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,588	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,443,787	*582G	probably null	Het
Trip13	C	A	13: 73,929,676	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,819,963	V1055E	probably damaging	Het
Utrn	A	G	10: 12,547,993	I2T	possibly damaging	Het
V1rd19	T	A	7: 24,003,656	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,837,185	G762V	probably benign	Het
Wdr66	C	T	5: 123,324,375	P1249L	probably damaging	Het
Zfp874b	T	C	13: 67,474,022	K386E	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
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
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'- TGAGCATGGAGTAATTTGAAGC -3'
(R):5'- CGTGAAATCCAATTGCTTTTGACAC -3'

Sequencing Primer
(F):5'- CATGGAGTAATTTGAAGCTGGGAAG -3'
(R):5'- GACACATTTCTGACAGACTCTGTG -3'

Posted On

2021-07-15