Mutagenetix > Incidental Mutation

Incidental Mutation 'R8155:Ddx60'

633265

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

067581-MU

Accession Numbers

Essential gene?

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

Stock #

R8155 (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 62017171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1398 (S1398T)

Ref Sequence

ENSEMBL: ENSMUSP00000091197 (fasta)

Gene Model

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

AlphaFold

E9PZQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000070631
AA Change: S1397T

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: S1397T

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: S1398T

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: S1398T

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,291,338 (GRCm38)	T1386I	probably damaging	Het
Abcb6	A	T	1: 75,174,769 (GRCm38)	V504E	probably damaging	Het
Adprhl1	C	T	8: 13,221,764 (GRCm38)	A1665T	probably damaging	Het
Arhgap32	T	A	9: 32,181,900 (GRCm38)	L183H	probably damaging	Het
Arhgef12	A	G	9: 43,042,662 (GRCm38)	L24S	probably damaging	Het
B3gnt4	C	T	5: 123,511,363 (GRCm38)	H264Y	possibly damaging	Het
Btbd11	G	A	10: 85,640,609 (GRCm38)		probably null	Het
Cfi	A	G	3: 129,855,090 (GRCm38)	T208A	probably benign	Het
Chd4	T	A	6: 125,105,324 (GRCm38)	F605Y	probably benign	Het
Clip1	A	G	5: 123,613,636 (GRCm38)	L694P		Het
Crybb3	A	T	5: 113,077,600 (GRCm38)	D135E	probably damaging	Het
Dusp5	T	A	19: 53,541,106 (GRCm38)	Y313*	probably null	Het
Eloa	A	G	4: 136,007,127 (GRCm38)	V689A	probably benign	Het
Ep300	T	A	15: 81,621,068 (GRCm38)	Y630N	unknown	Het
Galnt5	A	T	2: 57,999,415 (GRCm38)	K342N	probably benign	Het
Gm4841	A	G	18: 60,270,337 (GRCm38)	V228A	probably damaging	Het
Gna14	A	T	19: 16,598,974 (GRCm38)	D115V	probably benign	Het
Gpx5	T	C	13: 21,288,747 (GRCm38)	D139G	probably damaging	Het
Hmcn1	G	T	1: 150,604,954 (GRCm38)	N4490K	probably damaging	Het
Hsp90aa1	T	C	12: 110,695,394 (GRCm38)	S63G	unknown	Het
Itpkb	T	C	1: 180,332,348 (GRCm38)	I13T	possibly damaging	Het
Lamb2	C	T	9: 108,480,646 (GRCm38)	R123W	probably damaging	Het
Ldha	A	G	7: 46,854,084 (GRCm38)	H300R	probably damaging	Het
Lrp2	A	G	2: 69,482,998 (GRCm38)	L2463P	possibly damaging	Het
Morf4l1	A	G	9: 90,095,172 (GRCm38)	I232T	probably damaging	Het
Mtg1	A	G	7: 140,144,709 (GRCm38)	H166R	probably benign	Het
Odf3l2	A	T	10: 79,645,632 (GRCm38)	V21E	probably benign	Het
Olfr1176	A	G	2: 88,339,952 (GRCm38)	N129S	probably damaging	Het
Olfr1368	A	G	13: 21,142,892 (GRCm38)	L55P	probably damaging	Het
Olfr212	T	A	6: 116,515,852 (GRCm38)	V25E	probably benign	Het
Olfr307	A	G	7: 86,336,178 (GRCm38)	S73P	probably damaging	Het
Olfr569	C	T	7: 102,887,245 (GRCm38)	D303N	probably benign	Het
Olfr850	A	T	9: 19,478,157 (GRCm38)	V31D	probably benign	Het
Papss2	A	G	19: 32,641,342 (GRCm38)	T267A	probably benign	Het
Park7	G	A	4: 150,907,090 (GRCm38)	R48C	possibly damaging	Het
Pecr	A	G	1: 72,270,284 (GRCm38)	V199A	probably damaging	Het
Pla2g10	G	A	16: 13,725,184 (GRCm38)	R80W	probably damaging	Het
Plek2	G	A	12: 78,896,292 (GRCm38)	R77*	probably null	Het
Psg23	A	G	7: 18,612,254 (GRCm38)	L172P	probably damaging	Het
Psg25	A	C	7: 18,526,520 (GRCm38)	F151C	probably benign	Het
Ptpn3	G	T	4: 57,232,336 (GRCm38)	H433Q	probably benign	Het
Rasal3	A	G	17: 32,397,407 (GRCm38)	V294A	possibly damaging	Het
Rnf6	T	C	5: 146,211,005 (GRCm38)	D401G	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,579,907 (GRCm38)		probably benign	Het
Sema3d	T	C	5: 12,448,181 (GRCm38)		probably null	Het
Serpinb1c	A	T	13: 32,897,055 (GRCm38)	L15Q	probably damaging	Het
Slfn3	T	A	11: 83,212,785 (GRCm38)	Y161N	probably damaging	Het
Spns2	T	C	11: 72,456,568 (GRCm38)	M404V	possibly damaging	Het
Ssfa2	T	C	2: 79,644,833 (GRCm38)	S379P	probably benign	Het
Stk39	T	A	2: 68,267,066 (GRCm38)	I479L	probably damaging	Het
Tbx15	C	A	3: 99,352,570 (GRCm38)	Q586K	possibly damaging	Het
Thap11	C	T	8: 105,856,222 (GRCm38)	R288*	probably null	Het
Tm7sf2	T	A	19: 6,064,095 (GRCm38)	D236V	probably damaging	Het
Tmem214	T	C	5: 30,871,792 (GRCm38)	S192P	possibly damaging	Het
Tnfaip3	A	G	10: 19,004,691 (GRCm38)	S543P	possibly damaging	Het
Traf3ip3	A	G	1: 193,178,216 (GRCm38)	L466P	probably damaging	Het
Tspan18	C	T	2: 93,210,012 (GRCm38)		probably null	Het
Vmn1r229	T	A	17: 20,815,210 (GRCm38)	L239Q	probably damaging	Het
Vsig2	T	C	9: 37,544,033 (GRCm38)	V293A	possibly damaging	Het
Wdfy4	A	T	14: 33,162,819 (GRCm38)	V42D		Het
Wnk2	G	A	13: 49,039,101 (GRCm38)	P2055S	unknown	Het
Zfp953	C	A	13: 67,343,471 (GRCm38)	C139F	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
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'- TAAAAGGAAGCACTCACAATGTTTC -3'
(R):5'- CTGAAGATTACAACAATGCAATGTGG -3'

Sequencing Primer
(F):5'- GTGACATGTAACTAAGCCTG -3'
(R):5'- GAGACCCTGAACTCAGTTTTCCAG -3'

Posted On

2020-06-30