Mutagenetix > Incidental Mutation

Incidental Mutation 'R2174:Ddx60'

237702

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

040176-MU

Accession Numbers

Essential gene?

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

Stock #

R2174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61928087-62038244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62017200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1407 (M1407I)

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: M1406I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: M1406I

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: M1407I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: M1407I

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

noncoding transcript
Transcript: ENSMUST00000136121

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	T	C	7: 38,194,828	I95T	possibly damaging	Het
4930452B06Rik	T	C	14: 8,558,109	I159V	probably benign	Het
Adarb1	A	G	10: 77,295,798	I619T	probably benign	Het
Aldh2	T	C	5: 121,572,668		probably benign	Het
Antxrl	T	A	14: 34,060,400	L180Q	probably damaging	Het
Asnsd1	A	T	1: 53,347,601	I289N	probably benign	Het
Asxl3	T	G	18: 22,453,644	S164A	possibly damaging	Het
Cacnb2	C	T	2: 14,958,767	T108I	probably benign	Het
Capn2	A	T	1: 182,479,725	I516N	probably benign	Het
Casc1	T	C	6: 145,175,170	H641R	probably damaging	Het
Ccdc59	A	T	10: 105,841,527	K9M	possibly damaging	Het
Cenpo	T	C	12: 4,217,318	K73R	probably benign	Het
Clasp1	A	G	1: 118,560,095	H823R	probably damaging	Het
Col6a4	T	C	9: 106,060,132	D1395G	probably damaging	Het
Dennd3	A	T	15: 73,555,305	R844W	probably damaging	Het
Depdc1b	A	T	13: 108,362,253	K157*	probably null	Het
Dnajc1	T	C	2: 18,307,951	D196G	probably damaging	Het
Fanca	A	G	8: 123,271,270	W1226R	probably benign	Het
Fbxl13	A	G	5: 21,582,048	V297A	possibly damaging	Het
Fnta	A	T	8: 26,013,470	F96I	possibly damaging	Het
Fzd3	T	C	14: 65,212,231		probably benign	Het
Gckr	T	C	5: 31,327,009	V597A	possibly damaging	Het
Gm43302	T	C	5: 105,274,350	K496R	probably benign	Het
Gm5283	A	G	3: 17,230,841		noncoding transcript	Het
Gm5724	A	T	6: 141,727,593	Y406*	probably null	Het
Gm6741	A	G	17: 91,236,904	I32V	probably benign	Het
Gnptab	T	A	10: 88,434,044	F870I	probably damaging	Het
Gpx8	G	A	13: 113,045,606	P98S	probably benign	Het
Grm2	T	C	9: 106,647,795	I574V	probably benign	Het
Gtf3c5	T	C	2: 28,567,775	D468G	probably benign	Het
Hectd3	A	T	4: 116,999,701	M482L	probably benign	Het
Ier5	G	T	1: 155,098,853	P193H	possibly damaging	Het
Inpp4a	A	G	1: 37,396,130	N827S	probably damaging	Het
Kif13a	A	G	13: 46,769,176	L387P	probably damaging	Het
Map3k1	G	C	13: 111,752,482	H1314D	possibly damaging	Het
Mbl2	G	A	19: 30,234,012	C11Y	possibly damaging	Het
Msr1	A	G	8: 39,631,340	L58P	probably damaging	Het
Mtmr10	T	A	7: 64,336,764	F530Y	possibly damaging	Het
Myo7b	A	G	18: 31,983,557	L999P	probably damaging	Het
Myoz3	T	C	18: 60,590,224	E8G	probably benign	Het
Naip6	C	A	13: 100,298,987	M1009I	probably benign	Het
Nav2	T	A	7: 49,452,663	M342K	probably damaging	Het
Ndufaf6	T	C	4: 11,070,228	H131R	probably benign	Het
Nlrp4a	T	C	7: 26,449,424	L152P	probably damaging	Het
Olfr1413	A	G	1: 92,573,657	N162S	probably benign	Het
Pan3	T	C	5: 147,450,653	I144T	possibly damaging	Het
Prkdc	A	T	16: 15,734,922	Q2074L	probably benign	Het
Pthlh	G	A	6: 147,257,012	T150I	probably benign	Het
Ptprq	A	T	10: 107,705,553	Y371N	probably damaging	Het
Rfwd3	A	G	8: 111,283,343	S377P	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Sap130	T	C	18: 31,677,479		probably null	Het
Sap25	T	G	5: 137,642,629	M229R	possibly damaging	Het
Scaper	A	T	9: 55,859,037	V479E	probably null	Het
Scn3a	T	A	2: 65,507,206	D649V	probably damaging	Het
Smc1b	A	G	15: 85,121,851		probably benign	Het
Sowahb	T	C	5: 93,044,425	E145G	possibly damaging	Het
Stxbp5	T	A	10: 9,835,846	I277F	possibly damaging	Het
Tanc1	T	C	2: 59,843,833	S1754P	possibly damaging	Het
Tanc2	A	G	11: 105,910,309	D1117G	probably benign	Het
Tbc1d31	A	G	15: 57,951,741	M605V	possibly damaging	Het
Tekt3	A	T	11: 63,094,688	D440V	possibly damaging	Het
Tmem67	C	T	4: 12,063,730	W477*	probably null	Het
Tra2a	T	C	6: 49,250,927		probably benign	Het
Trappc12	A	G	12: 28,747,381	F51L	possibly damaging	Het
Trrap	C	A	5: 144,821,855	P2183Q	probably benign	Het
Ubn2	T	A	6: 38,470,141		probably null	Het
Unc5d	A	T	8: 28,694,540	V644E	probably damaging	Het
Xpo4	A	G	14: 57,590,090	L883P	probably damaging	Het
Zbbx	T	G	3: 75,052,414	D616A	possibly damaging	Het
Zfp943	T	A	17: 21,992,823	C297S	probably damaging	Het

Other mutations in Ddx60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ddx60	APN	8	61958646	missense	probably damaging	1.00
IGL00915:Ddx60	APN	8	61987431	missense	possibly damaging	0.79
IGL00931:Ddx60	APN	8	61969583	missense	probably benign	0.18
IGL01023:Ddx60	APN	8	61942514	missense	probably damaging	0.99
IGL01313:Ddx60	APN	8	61982526	missense	probably damaging	1.00
IGL01615:Ddx60	APN	8	61963740	missense	probably null	0.81
IGL01733:Ddx60	APN	8	61983865	missense	probably damaging	0.99
IGL01779:Ddx60	APN	8	62017823	missense	possibly damaging	0.94
IGL01900:Ddx60	APN	8	62000709	splice site	probably benign
IGL02110:Ddx60	APN	8	62017247	critical splice donor site	probably null
IGL02302:Ddx60	APN	8	61975832	missense	possibly damaging	0.85
IGL02468:Ddx60	APN	8	61958642	missense	probably damaging	1.00
IGL02569:Ddx60	APN	8	62024951	missense	possibly damaging	0.93
IGL02622:Ddx60	APN	8	61942436	splice site	probably null
IGL02657:Ddx60	APN	8	61984115	missense	probably benign	0.01
IGL02677:Ddx60	APN	8	61988132	missense	probably damaging	1.00
IGL02701:Ddx60	APN	8	61979341	missense	probably damaging	0.96
IGL02806:Ddx60	APN	8	61956122	missense	probably benign	0.00
IGL03137:Ddx60	APN	8	61988083	missense	possibly damaging	0.61
IGL03295:Ddx60	APN	8	61956121	missense	possibly damaging	0.82
IGL03387:Ddx60	APN	8	62012449	missense	probably damaging	1.00
IGL03411:Ddx60	APN	8	61977882	critical splice acceptor site	probably null
Scatter	UTSW	8	62021314	missense	possibly damaging	0.80
shotgun	UTSW	8	62037067	missense	probably benign	0.28
splay	UTSW	8	62021309	missense	possibly damaging	0.80
G1Funyon:Ddx60	UTSW	8	62000597	missense	probably benign	0.01
PIT4504001:Ddx60	UTSW	8	61958113	missense	probably benign
PIT4677001:Ddx60	UTSW	8	61972254	missense	possibly damaging	0.87
R0090:Ddx60	UTSW	8	61942293	missense	probably damaging	1.00
R0266:Ddx60	UTSW	8	62033493	missense	possibly damaging	0.92
R0325:Ddx60	UTSW	8	61983855	missense	probably benign	0.00
R0367:Ddx60	UTSW	8	62017749	missense	possibly damaging	0.78
R0403:Ddx60	UTSW	8	61994541	splice site	probably benign
R0479:Ddx60	UTSW	8	61969657	missense	probably damaging	1.00
R0561:Ddx60	UTSW	8	62017794	missense	possibly damaging	0.93
R0844:Ddx60	UTSW	8	61987361	missense	probably benign	0.27
R1119:Ddx60	UTSW	8	61942544	missense	probably damaging	1.00
R1428:Ddx60	UTSW	8	61958159	splice site	probably benign
R1778:Ddx60	UTSW	8	61974176	missense	possibly damaging	0.85
R1840:Ddx60	UTSW	8	61969553	missense	probably damaging	0.99
R1964:Ddx60	UTSW	8	61948869	missense	probably benign	0.10
R1970:Ddx60	UTSW	8	61972206	missense	possibly damaging	0.93
R2101:Ddx60	UTSW	8	61940645	missense	probably damaging	1.00
R2174:Ddx60	UTSW	8	61956141	missense	probably damaging	1.00
R2198:Ddx60	UTSW	8	61958063	missense	possibly damaging	0.79
R2332:Ddx60	UTSW	8	62037091	missense	probably benign	0.08
R2338:Ddx60	UTSW	8	62012436	missense	possibly damaging	0.91
R2379:Ddx60	UTSW	8	62037088	missense	probably damaging	1.00
R4010:Ddx60	UTSW	8	61956144	missense	probably benign	0.25
R4010:Ddx60	UTSW	8	61954535	missense	possibly damaging	0.65
R4133:Ddx60	UTSW	8	61972220	missense	probably damaging	0.99
R4282:Ddx60	UTSW	8	61994393	missense	probably damaging	0.99
R4382:Ddx60	UTSW	8	61948978	splice site	probably null
R4561:Ddx60	UTSW	8	61942461	missense	probably damaging	0.96
R4572:Ddx60	UTSW	8	61987421	missense	probably damaging	1.00
R4581:Ddx60	UTSW	8	62023261	missense	possibly damaging	0.90
R4635:Ddx60	UTSW	8	62037067	missense	probably benign	0.28
R4698:Ddx60	UTSW	8	62012424	missense	probably benign	0.01
R4807:Ddx60	UTSW	8	61979338	missense	probably damaging	1.00
R4858:Ddx60	UTSW	8	62021314	missense	possibly damaging	0.80
R4964:Ddx60	UTSW	8	61979338	missense	probably damaging	1.00
R5120:Ddx60	UTSW	8	61945906	missense	probably benign	0.01
R5187:Ddx60	UTSW	8	61974188	missense	probably damaging	1.00
R5222:Ddx60	UTSW	8	61984158	missense	probably damaging	0.99
R5400:Ddx60	UTSW	8	62010002	missense	possibly damaging	0.65
R5500:Ddx60	UTSW	8	61950451	missense	probably benign	0.28
R5514:Ddx60	UTSW	8	61958057	missense	probably damaging	1.00
R5668:Ddx60	UTSW	8	62000578	missense	probably benign	0.38
R5742:Ddx60	UTSW	8	61948921	missense	probably benign
R5772:Ddx60	UTSW	8	61948897	missense	probably damaging	1.00
R5810:Ddx60	UTSW	8	62012388	nonsense	probably null
R5815:Ddx60	UTSW	8	61963722	missense	probably damaging	0.98
R5820:Ddx60	UTSW	8	61956121	missense	possibly damaging	0.82
R5866:Ddx60	UTSW	8	61940740	missense	probably damaging	1.00
R5881:Ddx60	UTSW	8	62037070	missense	probably damaging	1.00
R5977:Ddx60	UTSW	8	62021410	critical splice donor site	probably null
R6048:Ddx60	UTSW	8	62000582	missense	probably benign	0.01
R6061:Ddx60	UTSW	8	62023241	missense	probably null	0.01
R6153:Ddx60	UTSW	8	61945940	missense	possibly damaging	0.47
R6287:Ddx60	UTSW	8	61950578	missense	probably damaging	1.00
R6415:Ddx60	UTSW	8	61983905	missense	probably benign	0.00
R6416:Ddx60	UTSW	8	61998681	missense	probably benign
R6416:Ddx60	UTSW	8	61977950	missense	probably benign	0.00
R6660:Ddx60	UTSW	8	61956239	missense	probably benign	0.00
R6694:Ddx60	UTSW	8	62037070	missense	probably damaging	1.00
R6715:Ddx60	UTSW	8	61983890	missense	probably benign	0.03
R6720:Ddx60	UTSW	8	62000689	missense	probably benign	0.10
R6937:Ddx60	UTSW	8	62037069	missense	probably damaging	1.00
R7153:Ddx60	UTSW	8	61988108	missense	possibly damaging	0.71
R7274:Ddx60	UTSW	8	61940108	critical splice donor site	probably null
R7409:Ddx60	UTSW	8	61958578	missense	probably benign	0.24
R7464:Ddx60	UTSW	8	61940674	missense	possibly damaging	0.82
R7670:Ddx60	UTSW	8	61975792	missense	probably damaging	1.00
R7904:Ddx60	UTSW	8	61977890	missense	possibly damaging	0.81
R7992:Ddx60	UTSW	8	61954535	missense	probably benign	0.03
R8124:Ddx60	UTSW	8	61983911	missense	probably benign
R8125:Ddx60	UTSW	8	61983911	missense	probably benign
R8126:Ddx60	UTSW	8	61983911	missense	probably benign
R8155:Ddx60	UTSW	8	62017171	missense	possibly damaging	0.61
R8174:Ddx60	UTSW	8	62017250	splice site	probably null
R8192:Ddx60	UTSW	8	61977968	missense	probably damaging	1.00
R8271:Ddx60	UTSW	8	61940108	critical splice donor site	probably null
R8301:Ddx60	UTSW	8	62000597	missense	probably benign	0.01
R8304:Ddx60	UTSW	8	61998769	missense	possibly damaging	0.67
R8319:Ddx60	UTSW	8	61942635	critical splice donor site	probably null
R8374:Ddx60	UTSW	8	61974171	missense	probably benign	0.01
R8401:Ddx60	UTSW	8	61956243	missense	possibly damaging	0.57
R8487:Ddx60	UTSW	8	61974150	missense	probably damaging	1.00
R8804:Ddx60	UTSW	8	61958606	missense	probably benign	0.27
R8826:Ddx60	UTSW	8	61945956	missense	probably benign	0.02
R8829:Ddx60	UTSW	8	61940661	missense	probably damaging	1.00
R8881:Ddx60	UTSW	8	62021309	missense	possibly damaging	0.80
R8884:Ddx60	UTSW	8	61994519	missense	possibly damaging	0.86
R8990:Ddx60	UTSW	8	61974134	nonsense	probably null
R9122:Ddx60	UTSW	8	61989864	missense	probably benign	0.16
R9225:Ddx60	UTSW	8	62017841	missense	probably benign	0.36
R9278:Ddx60	UTSW	8	61977978	missense	possibly damaging	0.83
R9293:Ddx60	UTSW	8	62009960	missense	possibly damaging	0.89
R9405:Ddx60	UTSW	8	61972214	missense	probably benign	0.03
R9766:Ddx60	UTSW	8	62012278	missense	probably damaging	1.00
X0003:Ddx60	UTSW	8	62033417	missense	possibly damaging	0.88
X0019:Ddx60	UTSW	8	61963692	missense	probably benign	0.01
Z1177:Ddx60	UTSW	8	62000588	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AAAAGGAAGCACTCACAATGTTTC -3'
(R):5'- TCTGAAGATTACAACAATGCAATGTGG -3'

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

Posted On

2014-10-02