Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Ddx60'

343100

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

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

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61928087-62038244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61942461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 144 (L144P)

Ref Sequence

ENSEMBL: ENSMUSP00000122841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070631] [ENSMUST00000093485] [ENSMUST00000154398] [ENSMUST00000156980]

AlphaFold

E9PZQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070631
AA Change: L144P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: L144P

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: L144P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: L144P

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 damaging
Transcript: ENSMUST00000154398
AA Change: L144P

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

SMART Domains

Protein: ENSMUSP00000122841
Gene: ENSMUSG00000037921
AA Change: L144P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156980

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 70,002,018	S1601P	probably damaging	Het
Arnt	A	G	3: 95,452,613	N56D	probably damaging	Het
Atad5	A	G	11: 80,095,889	T601A	probably benign	Het
Calr4	A	G	4: 109,246,182	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,047,632	A93S	probably damaging	Het
Cep135	C	T	5: 76,638,193	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,636,713		probably null	Het
Dera	A	T	6: 137,780,738	T96S	possibly damaging	Het
Dock9	T	A	14: 121,559,007	M1853L	probably benign	Het
Erbb4	G	A	1: 68,343,921	R306*	probably null	Het
Glyat	G	T	19: 12,651,280	L146F	possibly damaging	Het
Grk4	C	A	5: 34,694,813	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,409,839	Q181R	probably benign	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ipo4	C	T	14: 55,630,089		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,571,955		probably benign	Het
Kcnd2	A	G	6: 21,216,396	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,361,031	H504L	probably damaging	Het
Map4	A	G	9: 110,052,371	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,877,035	R707L	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myof	T	C	19: 37,922,990	N1511D	probably benign	Het
Neb	A	T	2: 52,286,155	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 94,477,146	T625A	probably damaging	Het
Olfr996	G	T	2: 85,579,620	C127F	probably damaging	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Pkhd1	A	T	1: 20,534,719	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,682	F189L	probably damaging	Het
Prex2	G	A	1: 11,184,545		probably null	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc22a22	T	A	15: 57,263,385	Q77L	probably damaging	Het
Slc24a2	A	T	4: 87,227,397	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,553,234	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Spag7	T	C	11: 70,664,990	I80M	probably damaging	Het
Srgap3	A	G	6: 112,781,054	M164T	probably damaging	Het
Sspo	A	T	6: 48,475,534		probably null	Het
Tcte2	T	C	17: 13,722,602		probably benign	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Tmtc4	T	C	14: 122,963,298	T194A	probably benign	Het
Ttc21b	T	C	2: 66,186,218	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,620,406	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,723,667	S608T	probably benign	Het
Zfp947	G	T	17: 22,146,143	Y183*	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
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'- GCTGCATTATATTCCTTCAATGACC -3'
(R):5'- CTCCTTGAAGAACATCTGCATTCC -3'

Sequencing Primer
(F):5'- ACCTCCTCTGCTGTAGGATG -3'
(R):5'- GAACATCTGCATTCCATGAGAG -3'

Posted On

2015-09-24