Mutagenetix > Incidental Mutation

Incidental Mutation 'R8155:Ddx60'

633265

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

DExD/H box helicase 60

Synonyms

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

MMRRC Submission

067581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R8155 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62381121-62490735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62470205 bp (GRCm39)

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: 71,330,497 (GRCm39)	T1386I	probably damaging	Het
Abcb6	A	T	1: 75,151,413 (GRCm39)	V504E	probably damaging	Het
Abtb3	G	A	10: 85,476,473 (GRCm39)		probably null	Het
Adprhl1	C	T	8: 13,271,764 (GRCm39)	A1665T	probably damaging	Het
Arhgap32	T	A	9: 32,093,196 (GRCm39)	L183H	probably damaging	Het
Arhgef12	A	G	9: 42,953,958 (GRCm39)	L24S	probably damaging	Het
B3gnt4	C	T	5: 123,649,426 (GRCm39)	H264Y	possibly damaging	Het
Cfi	A	G	3: 129,648,739 (GRCm39)	T208A	probably benign	Het
Chd4	T	A	6: 125,082,287 (GRCm39)	F605Y	probably benign	Het
Cimap1d	A	T	10: 79,481,466 (GRCm39)	V21E	probably benign	Het
Clip1	A	G	5: 123,751,699 (GRCm39)	L694P		Het
Crybb3	A	T	5: 113,225,466 (GRCm39)	D135E	probably damaging	Het
Dusp5	T	A	19: 53,529,537 (GRCm39)	Y313*	probably null	Het
Eloa	A	G	4: 135,734,438 (GRCm39)	V689A	probably benign	Het
Ep300	T	A	15: 81,505,269 (GRCm39)	Y630N	unknown	Het
Galnt5	A	T	2: 57,889,427 (GRCm39)	K342N	probably benign	Het
Gm4841	A	G	18: 60,403,409 (GRCm39)	V228A	probably damaging	Het
Gna14	A	T	19: 16,576,338 (GRCm39)	D115V	probably benign	Het
Gpx5	T	C	13: 21,472,917 (GRCm39)	D139G	probably damaging	Het
Hmcn1	G	T	1: 150,480,705 (GRCm39)	N4490K	probably damaging	Het
Hsp90aa1	T	C	12: 110,661,828 (GRCm39)	S63G	unknown	Het
Itpkb	T	C	1: 180,159,913 (GRCm39)	I13T	possibly damaging	Het
Itprid2	T	C	2: 79,475,177 (GRCm39)	S379P	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldha	A	G	7: 46,503,508 (GRCm39)	H300R	probably damaging	Het
Lrp2	A	G	2: 69,313,342 (GRCm39)	L2463P	possibly damaging	Het
Morf4l1	A	G	9: 89,977,225 (GRCm39)	I232T	probably damaging	Het
Mtg1	A	G	7: 139,724,622 (GRCm39)	H166R	probably benign	Het
Or14a260	A	G	7: 85,985,386 (GRCm39)	S73P	probably damaging	Het
Or2ad1	A	G	13: 21,327,062 (GRCm39)	L55P	probably damaging	Het
Or52r1	C	T	7: 102,536,452 (GRCm39)	D303N	probably benign	Het
Or5d46	A	G	2: 88,170,296 (GRCm39)	N129S	probably damaging	Het
Or6d12	T	A	6: 116,492,813 (GRCm39)	V25E	probably benign	Het
Or7g32	A	T	9: 19,389,453 (GRCm39)	V31D	probably benign	Het
Papss2	A	G	19: 32,618,742 (GRCm39)	T267A	probably benign	Het
Park7	G	A	4: 150,991,547 (GRCm39)	R48C	possibly damaging	Het
Pecr	A	G	1: 72,309,443 (GRCm39)	V199A	probably damaging	Het
Pla2g10	G	A	16: 13,543,048 (GRCm39)	R80W	probably damaging	Het
Plek2	G	A	12: 78,943,066 (GRCm39)	R77*	probably null	Het
Psg23	A	G	7: 18,346,179 (GRCm39)	L172P	probably damaging	Het
Psg25	A	C	7: 18,260,445 (GRCm39)	F151C	probably benign	Het
Ptpn3	G	T	4: 57,232,336 (GRCm39)	H433Q	probably benign	Het
Rasal3	A	G	17: 32,616,381 (GRCm39)	V294A	possibly damaging	Het
Rnf6	T	C	5: 146,147,815 (GRCm39)	D401G	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sema3d	T	C	5: 12,498,148 (GRCm39)		probably null	Het
Serpinb1c	A	T	13: 33,081,038 (GRCm39)	L15Q	probably damaging	Het
Slfn3	T	A	11: 83,103,611 (GRCm39)	Y161N	probably damaging	Het
Spns2	T	C	11: 72,347,394 (GRCm39)	M404V	possibly damaging	Het
Stk39	T	A	2: 68,097,410 (GRCm39)	I479L	probably damaging	Het
Tbx15	C	A	3: 99,259,886 (GRCm39)	Q586K	possibly damaging	Het
Thap11	C	T	8: 106,582,854 (GRCm39)	R288*	probably null	Het
Tm7sf2	T	A	19: 6,114,125 (GRCm39)	D236V	probably damaging	Het
Tmem214	T	C	5: 31,029,136 (GRCm39)	S192P	possibly damaging	Het
Tnfaip3	A	G	10: 18,880,439 (GRCm39)	S543P	possibly damaging	Het
Traf3ip3	A	G	1: 192,860,524 (GRCm39)	L466P	probably damaging	Het
Tspan18	C	T	2: 93,040,357 (GRCm39)		probably null	Het
Vmn1r229	T	A	17: 21,035,472 (GRCm39)	L239Q	probably damaging	Het
Vsig2	T	C	9: 37,455,329 (GRCm39)	V293A	possibly damaging	Het
Wdfy4	A	T	14: 32,884,776 (GRCm39)	V42D		Het
Wnk2	G	A	13: 49,192,577 (GRCm39)	P2055S	unknown	Het
Zfp953	C	A	13: 67,491,535 (GRCm39)	C139F	probably damaging	Het

Other mutations in Ddx60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ddx60	APN	8	62,411,680 (GRCm39)	missense	probably damaging	1.00
IGL00915:Ddx60	APN	8	62,440,465 (GRCm39)	missense	possibly damaging	0.79
IGL00931:Ddx60	APN	8	62,422,617 (GRCm39)	missense	probably benign	0.18
IGL01023:Ddx60	APN	8	62,395,548 (GRCm39)	missense	probably damaging	0.99
IGL01313:Ddx60	APN	8	62,435,560 (GRCm39)	missense	probably damaging	1.00
IGL01615:Ddx60	APN	8	62,416,774 (GRCm39)	missense	probably null	0.81
IGL01733:Ddx60	APN	8	62,436,899 (GRCm39)	missense	probably damaging	0.99
IGL01779:Ddx60	APN	8	62,470,857 (GRCm39)	missense	possibly damaging	0.94
IGL01900:Ddx60	APN	8	62,453,743 (GRCm39)	splice site	probably benign
IGL02110:Ddx60	APN	8	62,470,281 (GRCm39)	critical splice donor site	probably null
IGL02302:Ddx60	APN	8	62,428,866 (GRCm39)	missense	possibly damaging	0.85
IGL02468:Ddx60	APN	8	62,411,676 (GRCm39)	missense	probably damaging	1.00
IGL02569:Ddx60	APN	8	62,477,985 (GRCm39)	missense	possibly damaging	0.93
IGL02622:Ddx60	APN	8	62,395,470 (GRCm39)	splice site	probably null
IGL02657:Ddx60	APN	8	62,437,149 (GRCm39)	missense	probably benign	0.01
IGL02677:Ddx60	APN	8	62,441,166 (GRCm39)	missense	probably damaging	1.00
IGL02701:Ddx60	APN	8	62,432,375 (GRCm39)	missense	probably damaging	0.96
IGL02806:Ddx60	APN	8	62,409,156 (GRCm39)	missense	probably benign	0.00
IGL03137:Ddx60	APN	8	62,441,117 (GRCm39)	missense	possibly damaging	0.61
IGL03295:Ddx60	APN	8	62,409,155 (GRCm39)	missense	possibly damaging	0.82
IGL03387:Ddx60	APN	8	62,465,483 (GRCm39)	missense	probably damaging	1.00
IGL03411:Ddx60	APN	8	62,430,916 (GRCm39)	critical splice acceptor site	probably null
Scatter	UTSW	8	62,474,348 (GRCm39)	missense	possibly damaging	0.80
shotgun	UTSW	8	62,490,101 (GRCm39)	missense	probably benign	0.28
splay	UTSW	8	62,474,343 (GRCm39)	missense	possibly damaging	0.80
G1Funyon:Ddx60	UTSW	8	62,453,631 (GRCm39)	missense	probably benign	0.01
PIT4504001:Ddx60	UTSW	8	62,411,147 (GRCm39)	missense	probably benign
PIT4677001:Ddx60	UTSW	8	62,425,288 (GRCm39)	missense	possibly damaging	0.87
R0090:Ddx60	UTSW	8	62,395,327 (GRCm39)	missense	probably damaging	1.00
R0266:Ddx60	UTSW	8	62,486,527 (GRCm39)	missense	possibly damaging	0.92
R0325:Ddx60	UTSW	8	62,436,889 (GRCm39)	missense	probably benign	0.00
R0367:Ddx60	UTSW	8	62,470,783 (GRCm39)	missense	possibly damaging	0.78
R0403:Ddx60	UTSW	8	62,447,575 (GRCm39)	splice site	probably benign
R0479:Ddx60	UTSW	8	62,422,691 (GRCm39)	missense	probably damaging	1.00
R0561:Ddx60	UTSW	8	62,470,828 (GRCm39)	missense	possibly damaging	0.93
R0844:Ddx60	UTSW	8	62,440,395 (GRCm39)	missense	probably benign	0.27
R1119:Ddx60	UTSW	8	62,395,578 (GRCm39)	missense	probably damaging	1.00
R1428:Ddx60	UTSW	8	62,411,193 (GRCm39)	splice site	probably benign
R1778:Ddx60	UTSW	8	62,427,210 (GRCm39)	missense	possibly damaging	0.85
R1840:Ddx60	UTSW	8	62,422,587 (GRCm39)	missense	probably damaging	0.99
R1964:Ddx60	UTSW	8	62,401,903 (GRCm39)	missense	probably benign	0.10
R1970:Ddx60	UTSW	8	62,425,240 (GRCm39)	missense	possibly damaging	0.93
R2101:Ddx60	UTSW	8	62,393,679 (GRCm39)	missense	probably damaging	1.00
R2174:Ddx60	UTSW	8	62,470,234 (GRCm39)	missense	probably benign	0.01
R2174:Ddx60	UTSW	8	62,409,175 (GRCm39)	missense	probably damaging	1.00
R2198:Ddx60	UTSW	8	62,411,097 (GRCm39)	missense	possibly damaging	0.79
R2332:Ddx60	UTSW	8	62,490,125 (GRCm39)	missense	probably benign	0.08
R2338:Ddx60	UTSW	8	62,465,470 (GRCm39)	missense	possibly damaging	0.91
R2379:Ddx60	UTSW	8	62,490,122 (GRCm39)	missense	probably damaging	1.00
R4010:Ddx60	UTSW	8	62,409,178 (GRCm39)	missense	probably benign	0.25
R4010:Ddx60	UTSW	8	62,407,569 (GRCm39)	missense	possibly damaging	0.65
R4133:Ddx60	UTSW	8	62,425,254 (GRCm39)	missense	probably damaging	0.99
R4282:Ddx60	UTSW	8	62,447,427 (GRCm39)	missense	probably damaging	0.99
R4382:Ddx60	UTSW	8	62,402,012 (GRCm39)	splice site	probably null
R4561:Ddx60	UTSW	8	62,395,495 (GRCm39)	missense	probably damaging	0.96
R4572:Ddx60	UTSW	8	62,440,455 (GRCm39)	missense	probably damaging	1.00
R4581:Ddx60	UTSW	8	62,476,295 (GRCm39)	missense	possibly damaging	0.90
R4635:Ddx60	UTSW	8	62,490,101 (GRCm39)	missense	probably benign	0.28
R4698:Ddx60	UTSW	8	62,465,458 (GRCm39)	missense	probably benign	0.01
R4807:Ddx60	UTSW	8	62,432,372 (GRCm39)	missense	probably damaging	1.00
R4858:Ddx60	UTSW	8	62,474,348 (GRCm39)	missense	possibly damaging	0.80
R4964:Ddx60	UTSW	8	62,432,372 (GRCm39)	missense	probably damaging	1.00
R5120:Ddx60	UTSW	8	62,398,940 (GRCm39)	missense	probably benign	0.01
R5187:Ddx60	UTSW	8	62,427,222 (GRCm39)	missense	probably damaging	1.00
R5222:Ddx60	UTSW	8	62,437,192 (GRCm39)	missense	probably damaging	0.99
R5400:Ddx60	UTSW	8	62,463,036 (GRCm39)	missense	possibly damaging	0.65
R5500:Ddx60	UTSW	8	62,403,485 (GRCm39)	missense	probably benign	0.28
R5514:Ddx60	UTSW	8	62,411,091 (GRCm39)	missense	probably damaging	1.00
R5668:Ddx60	UTSW	8	62,453,612 (GRCm39)	missense	probably benign	0.38
R5742:Ddx60	UTSW	8	62,401,955 (GRCm39)	missense	probably benign
R5772:Ddx60	UTSW	8	62,401,931 (GRCm39)	missense	probably damaging	1.00
R5810:Ddx60	UTSW	8	62,465,422 (GRCm39)	nonsense	probably null
R5815:Ddx60	UTSW	8	62,416,756 (GRCm39)	missense	probably damaging	0.98
R5820:Ddx60	UTSW	8	62,409,155 (GRCm39)	missense	possibly damaging	0.82
R5866:Ddx60	UTSW	8	62,393,774 (GRCm39)	missense	probably damaging	1.00
R5881:Ddx60	UTSW	8	62,490,104 (GRCm39)	missense	probably damaging	1.00
R5977:Ddx60	UTSW	8	62,474,444 (GRCm39)	critical splice donor site	probably null
R6048:Ddx60	UTSW	8	62,453,616 (GRCm39)	missense	probably benign	0.01
R6061:Ddx60	UTSW	8	62,476,275 (GRCm39)	missense	probably null	0.01
R6153:Ddx60	UTSW	8	62,398,974 (GRCm39)	missense	possibly damaging	0.47
R6287:Ddx60	UTSW	8	62,403,612 (GRCm39)	missense	probably damaging	1.00
R6415:Ddx60	UTSW	8	62,436,939 (GRCm39)	missense	probably benign	0.00
R6416:Ddx60	UTSW	8	62,451,715 (GRCm39)	missense	probably benign
R6416:Ddx60	UTSW	8	62,430,984 (GRCm39)	missense	probably benign	0.00
R6660:Ddx60	UTSW	8	62,409,273 (GRCm39)	missense	probably benign	0.00
R6694:Ddx60	UTSW	8	62,490,104 (GRCm39)	missense	probably damaging	1.00
R6715:Ddx60	UTSW	8	62,436,924 (GRCm39)	missense	probably benign	0.03
R6720:Ddx60	UTSW	8	62,453,723 (GRCm39)	missense	probably benign	0.10
R6937:Ddx60	UTSW	8	62,490,103 (GRCm39)	missense	probably damaging	1.00
R7153:Ddx60	UTSW	8	62,441,142 (GRCm39)	missense	possibly damaging	0.71
R7274:Ddx60	UTSW	8	62,393,142 (GRCm39)	critical splice donor site	probably null
R7409:Ddx60	UTSW	8	62,411,612 (GRCm39)	missense	probably benign	0.24
R7464:Ddx60	UTSW	8	62,393,708 (GRCm39)	missense	possibly damaging	0.82
R7670:Ddx60	UTSW	8	62,428,826 (GRCm39)	missense	probably damaging	1.00
R7904:Ddx60	UTSW	8	62,430,924 (GRCm39)	missense	possibly damaging	0.81
R7992:Ddx60	UTSW	8	62,407,569 (GRCm39)	missense	probably benign	0.03
R8124:Ddx60	UTSW	8	62,436,945 (GRCm39)	missense	probably benign
R8125:Ddx60	UTSW	8	62,436,945 (GRCm39)	missense	probably benign
R8126:Ddx60	UTSW	8	62,436,945 (GRCm39)	missense	probably benign
R8174:Ddx60	UTSW	8	62,470,284 (GRCm39)	splice site	probably null
R8192:Ddx60	UTSW	8	62,431,002 (GRCm39)	missense	probably damaging	1.00
R8271:Ddx60	UTSW	8	62,393,142 (GRCm39)	critical splice donor site	probably null
R8301:Ddx60	UTSW	8	62,453,631 (GRCm39)	missense	probably benign	0.01
R8304:Ddx60	UTSW	8	62,451,803 (GRCm39)	missense	possibly damaging	0.67
R8319:Ddx60	UTSW	8	62,395,669 (GRCm39)	critical splice donor site	probably null
R8374:Ddx60	UTSW	8	62,427,205 (GRCm39)	missense	probably benign	0.01
R8401:Ddx60	UTSW	8	62,409,277 (GRCm39)	missense	possibly damaging	0.57
R8487:Ddx60	UTSW	8	62,427,184 (GRCm39)	missense	probably damaging	1.00
R8804:Ddx60	UTSW	8	62,411,640 (GRCm39)	missense	probably benign	0.27
R8826:Ddx60	UTSW	8	62,398,990 (GRCm39)	missense	probably benign	0.02
R8829:Ddx60	UTSW	8	62,393,695 (GRCm39)	missense	probably damaging	1.00
R8881:Ddx60	UTSW	8	62,474,343 (GRCm39)	missense	possibly damaging	0.80
R8884:Ddx60	UTSW	8	62,447,553 (GRCm39)	missense	possibly damaging	0.86
R8990:Ddx60	UTSW	8	62,427,168 (GRCm39)	nonsense	probably null
R9122:Ddx60	UTSW	8	62,442,898 (GRCm39)	missense	probably benign	0.16
R9225:Ddx60	UTSW	8	62,470,875 (GRCm39)	missense	probably benign	0.36
R9278:Ddx60	UTSW	8	62,431,012 (GRCm39)	missense	possibly damaging	0.83
R9293:Ddx60	UTSW	8	62,462,994 (GRCm39)	missense	possibly damaging	0.89
R9405:Ddx60	UTSW	8	62,425,248 (GRCm39)	missense	probably benign	0.03
R9766:Ddx60	UTSW	8	62,465,312 (GRCm39)	missense	probably damaging	1.00
X0003:Ddx60	UTSW	8	62,486,451 (GRCm39)	missense	possibly damaging	0.88
X0019:Ddx60	UTSW	8	62,416,726 (GRCm39)	missense	probably benign	0.01
Z1177:Ddx60	UTSW	8	62,453,622 (GRCm39)	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