Mutagenetix > Incidental Mutation

Incidental Mutation 'R6660:Ddx60'

526808

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

044780-MU

Accession Numbers

Essential gene?

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

Stock #

R6660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62381121-62490735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62409273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 436 (H436Q)

Ref Sequence

ENSEMBL: ENSMUSP00000122841 (fasta)

Gene Model

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

AlphaFold

E9PZQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000070631
AA Change: H436Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: H436Q

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: H436Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: H436Q

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 benign
Transcript: ENSMUST00000154398
AA Change: H436Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122841
Gene: ENSMUSG00000037921
AA Change: H436Q

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg1	A	T	11: 120,237,581 (GRCm39)	I289N	probably damaging	Het
Atg5	A	G	10: 44,170,651 (GRCm39)	N99S	probably benign	Het
Ccdc88a	A	G	11: 29,432,663 (GRCm39)	Q1223R	probably benign	Het
Cdc42	T	C	4: 137,056,145 (GRCm39)	D122G	probably benign	Het
Cpxm1	A	G	2: 130,238,069 (GRCm39)	S127P	probably damaging	Het
Cyfip2	A	G	11: 46,140,634 (GRCm39)	C730R	possibly damaging	Het
Dnah17	T	C	11: 117,991,014 (GRCm39)	Y1236C	probably benign	Het
Ep400	G	A	5: 110,867,313 (GRCm39)	R1000*	probably null	Het
Ergic3	A	G	2: 155,859,754 (GRCm39)	I227V	probably damaging	Het
Fam227b	G	T	2: 125,986,227 (GRCm39)	P13Q	probably damaging	Het
Gal	A	G	19: 3,460,108 (GRCm39)	L121P	possibly damaging	Het
Garin2	T	C	12: 78,762,131 (GRCm39)	V265A	possibly damaging	Het
Ifi207	T	C	1: 173,556,972 (GRCm39)	T589A	probably benign	Het
Intu	T	C	3: 40,586,100 (GRCm39)	V27A	probably benign	Het
Lama1	A	T	17: 68,111,495 (GRCm39)	I2249L	probably benign	Het
Pdc	T	C	1: 150,209,086 (GRCm39)	Y190H	probably damaging	Het
Pmm2	T	C	16: 8,473,506 (GRCm39)	L240P	probably damaging	Het
Polr1a	T	C	6: 71,944,358 (GRCm39)	V1275A	probably damaging	Het
Rgsl1	T	A	1: 153,701,512 (GRCm39)	N314I	possibly damaging	Het
Rpe65	A	T	3: 159,320,345 (GRCm39)	N301Y	probably damaging	Het
Ryr1	A	G	7: 28,737,770 (GRCm39)		probably null	Het
Sh3bp4	A	G	1: 89,080,888 (GRCm39)	S902G	possibly damaging	Het
Slc44a4	A	T	17: 35,149,201 (GRCm39)	R705W	probably damaging	Het
Slc4a10	A	G	2: 62,080,747 (GRCm39)	I325V	possibly damaging	Het
Spns1	A	G	7: 125,974,237 (GRCm39)		probably null	Het
Syt6	T	G	3: 103,532,960 (GRCm39)	L363R	probably damaging	Het
Ttn	A	G	2: 76,544,759 (GRCm39)	V32781A	probably benign	Het
Ube2l6	A	G	2: 84,636,852 (GRCm39)	T99A	probably damaging	Het
Unc13b	A	T	4: 43,177,412 (GRCm39)		probably benign	Het
Vmn1r189	A	T	13: 22,286,066 (GRCm39)	L257H	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfpm2	T	C	15: 40,518,981 (GRCm39)		probably null	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
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'- CTTCTAGGCATGAGTCAGTGGTAC -3'
(R):5'- GAGAATCTGAGTGTCTTTCATCCAC -3'

Sequencing Primer
(F):5'- CTGAGTAATTTTAATTTGGTCCAGGC -3'
(R):5'- CACAAAGAAAATCTTCAGTTGCTAG -3'

Posted On

2018-07-23