Mutagenetix > Incidental Mutation

Incidental Mutation 'R5810:Ddx60'

447471

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

043395-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62381121-62490735 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 62465422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1360 (Q1360*)

Ref Sequence

ENSEMBL: ENSMUSP00000091197 (fasta)

Gene Model

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

AlphaFold

E9PZQ1

Predicted Effect

probably null
Transcript: ENSMUST00000070631
AA Change: Q1359*

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: Q1359*

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 null
Transcript: ENSMUST00000093485
AA Change: Q1360*

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: Q1360*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

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
Abca1	A	G	4: 53,079,631 (GRCm39)	F866L	probably benign	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Actl11	C	T	9: 107,806,420 (GRCm39)	P248S	probably benign	Het
Actr3	A	G	1: 125,344,116 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,974,500 (GRCm39)		probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,005,638 (GRCm39)		probably null	Het
Car13	A	C	3: 14,706,828 (GRCm39)		probably null	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cnnm3	A	G	1: 36,564,280 (GRCm39)	E704G	probably benign	Het
Cyp4f14	T	A	17: 33,125,072 (GRCm39)	I450F	possibly damaging	Het
Ddhd1	G	T	14: 45,840,164 (GRCm39)	T710N	probably damaging	Het
Dlg5	A	G	14: 24,196,322 (GRCm39)	V1625A	probably damaging	Het
Dst	G	A	1: 34,222,121 (GRCm39)		probably benign	Het
Dyrk2	G	T	10: 118,696,245 (GRCm39)	H338N	probably benign	Het
Epb41l1	A	T	2: 156,341,575 (GRCm39)	I187F	probably damaging	Het
Esd	A	G	14: 74,983,051 (GRCm39)	D221G	probably damaging	Het
Fam53b	T	A	7: 132,361,893 (GRCm39)	N45I	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,248,098 (GRCm39)	D1006E	probably benign	Het
Gli3	T	C	13: 15,818,894 (GRCm39)	V232A	probably damaging	Het
Gm28308	C	A	6: 52,190,196 (GRCm39)		probably benign	Het
Gpatch1	G	A	7: 34,994,796 (GRCm39)	A490V	probably benign	Het
Hoxa7	T	C	6: 52,193,004 (GRCm39)	D128G	probably benign	Het
Igdcc4	A	G	9: 65,035,977 (GRCm39)	T751A	probably damaging	Het
Igsf10	G	A	3: 59,226,492 (GRCm39)	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,738,063 (GRCm39)		probably null	Het
Il17re	C	T	6: 113,446,557 (GRCm39)	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,671,124 (GRCm39)		probably benign	Het
Larp7-ps	A	T	4: 92,079,820 (GRCm39)		probably null	Het
Lgals12	T	C	19: 7,584,085 (GRCm39)	D4G	probably benign	Het
Liph	A	T	16: 21,786,860 (GRCm39)	L252Q	probably damaging	Het
Mtg1	T	A	7: 139,725,898 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,982,316 (GRCm39)	L1139P	probably damaging	Het
Ninl	T	C	2: 150,792,088 (GRCm39)	R812G	probably benign	Het
Npm3	A	G	19: 45,736,644 (GRCm39)	I165T	possibly damaging	Het
Or1e22	G	T	11: 73,376,921 (GRCm39)	S243*	probably null	Het
Osbpl9	A	G	4: 108,943,571 (GRCm39)	V231A	probably benign	Het
Pgam2	T	C	11: 5,753,417 (GRCm39)	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,270,897 (GRCm39)	W3219R	probably benign	Het
Procr	A	G	2: 155,593,327 (GRCm39)	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,471,314 (GRCm39)	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,601,222 (GRCm39)	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,003,598 (GRCm39)	C500S	probably damaging	Het
Snrpd2	G	T	7: 18,886,447 (GRCm39)	V77F	probably benign	Het
Sp100	G	A	1: 85,593,006 (GRCm39)	G145D	probably benign	Het
Spg7	G	A	8: 123,821,308 (GRCm39)	E678K	possibly damaging	Het
Ssh1	T	C	5: 114,084,627 (GRCm39)	K538E	probably benign	Het
Sspo	C	T	6: 48,460,832 (GRCm39)	R3356W	probably benign	Het
Stx1a	G	T	5: 135,077,932 (GRCm39)	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,032,380 (GRCm39)	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,264,768 (GRCm39)		probably benign	Het
Tpm2	T	C	4: 43,518,968 (GRCm39)		probably benign	Het
Triobp	T	C	15: 78,852,467 (GRCm39)	C874R	probably benign	Het
Tymp	T	A	15: 89,258,534 (GRCm39)	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,428,597 (GRCm39)	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,897,804 (GRCm39)	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,024,815 (GRCm39)	C589S	probably damaging	Het
Vps13a	T	C	19: 16,643,688 (GRCm39)	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,510 (GRCm39)	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,541,579 (GRCm39)	Y54*	probably null	Het
Zswim9	A	T	7: 12,994,662 (GRCm39)	V498D	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
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
R8155:Ddx60	UTSW	8	62,470,205 (GRCm39)	missense	possibly damaging	0.61
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'- TAACCTCCATATGCAGCATACGTG -3'
(R):5'- GACCCCAAAGTCATGGCAAG -3'

Sequencing Primer
(F):5'- GTAAAAGGCTTAATCTCTTCAACCC -3'
(R):5'- TGGCAAGCCAAATAAAAGCACAG -3'

Posted On

2016-12-15