Mutagenetix > Incidental Mutation

Incidental Mutation 'R8124:Ddx60'

631647

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

067553-MU

Accession Numbers

Essential gene?

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

Stock #

R8124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62381121-62490735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62436945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 965 (A965V)

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: A964V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: A964V

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 benign
Transcript: ENSMUST00000093485
AA Change: A965V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: A965V

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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.5%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	A	5: 24,683,128 (GRCm39)	I320N	probably benign	Het
Ahnak	G	A	19: 8,984,487 (GRCm39)	G1924S	probably damaging	Het
Ap2a2	G	A	7: 141,178,757 (GRCm39)	R141H	probably benign	Het
Atf7ip2	T	C	16: 10,026,999 (GRCm39)	V89A	possibly damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Csnk2a2	G	A	8: 96,182,575 (GRCm39)	P296L		Het
Dab2	T	A	15: 6,458,878 (GRCm39)	C263*	probably null	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dennd5a	A	T	7: 109,497,142 (GRCm39)	I1119N	probably damaging	Het
Dpy30	A	G	17: 74,623,099 (GRCm39)		probably benign	Het
Epg5	G	A	18: 78,008,211 (GRCm39)	A780T	probably benign	Het
Etl4	A	G	2: 20,811,451 (GRCm39)	D1546G	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
F13a1	T	C	13: 37,209,779 (GRCm39)	K62R	probably damaging	Het
Gm2832	T	C	14: 41,000,894 (GRCm39)	M44T		Het
Gm9195	T	C	14: 72,680,063 (GRCm39)	I2249V	probably benign	Het
Hmcn2	T	C	2: 31,290,136 (GRCm39)	V2323A	probably benign	Het
Ice2	T	A	9: 69,307,777 (GRCm39)	N20K	probably damaging	Het
Klf15	T	C	6: 90,443,863 (GRCm39)	F146S	probably damaging	Het
Lgi3	A	G	14: 70,772,178 (GRCm39)	Y241C	probably damaging	Het
Lig4	A	T	8: 10,022,954 (GRCm39)	D275E	probably damaging	Het
Lrit1	T	A	14: 36,784,005 (GRCm39)	S444R	probably benign	Het
Lrrc37	A	G	11: 103,511,257 (GRCm39)	V237A	unknown	Het
Mip	T	C	10: 128,062,070 (GRCm39)	V107A	possibly damaging	Het
Mtrex	A	C	13: 113,063,871 (GRCm39)	D7E	probably benign	Het
Myo15a	G	A	11: 60,398,279 (GRCm39)	V1581M		Het
Nckap1l	A	G	15: 103,382,248 (GRCm39)	D481G	possibly damaging	Het
Obox3	A	T	7: 15,323,874 (GRCm39)		probably null	Het
Or11h4	C	T	14: 50,973,743 (GRCm39)	R292H	probably benign	Het
Or2d3	G	A	7: 106,491,088 (GRCm39)	T76I	possibly damaging	Het
Or5a21	T	A	19: 12,310,834 (GRCm39)	N129Y	probably damaging	Het
Or5p1	C	A	7: 107,916,984 (GRCm39)	N294K	possibly damaging	Het
Or8g27	T	C	9: 39,128,967 (GRCm39)	F105L	probably benign	Het
Pilrb2	T	A	5: 137,869,306 (GRCm39)	E98V	probably damaging	Het
Plekhm1	A	G	11: 103,257,775 (GRCm39)	V1053A	probably benign	Het
Prdm2	A	T	4: 142,861,835 (GRCm39)	V485E	probably damaging	Het
Riox2	G	A	16: 59,306,954 (GRCm39)	E282K	probably benign	Het
Rps6ka2	T	A	17: 7,549,228 (GRCm39)	V379E	possibly damaging	Het
Slc4a7	G	A	14: 14,729,211 (GRCm38)	E20K	possibly damaging	Het
Sned1	G	A	1: 93,210,711 (GRCm39)		probably null	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tent4a	G	A	13: 69,681,716 (GRCm39)		probably benign	Het
Tmem132d	T	C	5: 127,869,624 (GRCm39)	Q570R	probably damaging	Het
Tmem87a	T	C	2: 120,222,676 (GRCm39)	T168A	probably benign	Het
Trank1	A	G	9: 111,207,995 (GRCm39)	R1747G	probably benign	Het
Txk	C	T	5: 72,860,606 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,852,373 (GRCm39)	L862F	possibly damaging	Het
Wdr64	A	T	1: 175,626,844 (GRCm39)		probably null	Het
Zfp106	G	T	2: 120,354,812 (GRCm39)	Q1343K	probably benign	Het
Zfp719	A	G	7: 43,239,314 (GRCm39)	T301A	probably benign	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
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'- CATTGCTAGTGGCTGATCTATGC -3'
(R):5'- TCTCCATAGAGCACTGGAGG -3'

Sequencing Primer
(F):5'- ATGGCTCCATGGAGTTCAAC -3'
(R):5'- GGGGGAAGGTGAGATTTTCCAAATG -3'

Posted On

2020-06-30