Mutagenetix > Incidental Mutations

Incidental Mutation 'R7409:Ddx60'

574928

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R7409 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61928087-62038244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61958578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 488 (T488K)

Ref Sequence

ENSEMBL: ENSMUSP00000091197 (fasta)

Gene Model

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

AlphaFold

E9PZQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000070631
AA Change: T488K

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: T488K

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: T488K

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: T488K

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: T488K

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122841
Gene: ENSMUSG00000037921
AA Change: T488K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (82/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610301B20Rik	T	A	4: 10,881,834	C94S	probably benign	Het
2610507B11Rik	G	T	11: 78,268,757	R544L	probably damaging	Het
Adgrb2	C	T	4: 130,019,069	A1329V	probably benign	Het
Aida	A	G	1: 183,318,874	T215A	probably benign	Het
Alpk2	A	G	18: 65,306,952	S457P	probably benign	Het
Ap4b1	G	A	3: 103,812,158	V63I	probably damaging	Het
Apaf1	A	G	10: 91,067,246	V182A	probably damaging	Het
B4galnt4	G	A	7: 141,067,003		probably null	Het
Cacna1a	T	G	8: 84,533,402	D331E	probably damaging	Het
Carmil2	A	G	8: 105,692,791		probably null	Het
Cdkn1b	A	T	6: 134,921,317	Q133L	probably benign	Het
Cep192	G	C	18: 67,834,803	S786T	possibly damaging	Het
Cfap97	G	A	8: 46,192,696	R537H	probably benign	Het
Clpx	C	G	9: 65,324,247	A552G	possibly damaging	Het
Cryl1	G	A	14: 57,286,385	T240I	probably damaging	Het
Dennd4b	A	G	3: 90,273,952	H805R	probably benign	Het
Dnmbp	T	C	19: 43,890,557	D25G	unknown	Het
Dysf	A	C	6: 84,149,682	D1293A	probably benign	Het
Efl1	T	C	7: 82,697,913	L549P	probably damaging	Het
Eif5	T	C	12: 111,540,263		probably benign	Het
Eva1c	A	G	16: 90,869,656	K156E	probably damaging	Het
Fbxw10	T	G	11: 62,876,780	V814G	possibly damaging	Het
Gfap	C	T	11: 102,894,532	R206Q	probably benign	Het
Gjb6	A	T	14: 57,124,153	L217*	probably null	Het
Gpatch11	T	A	17: 78,839,166	L80Q	probably damaging	Het
Gramd1b	T	C	9: 40,327,431	Q225R	probably damaging	Het
Gsdmc2	A	G	15: 63,833,346	S173P	possibly damaging	Het
Hars	C	G	18: 36,770,113	R388P	probably damaging	Het
Ighm	C	T	12: 113,422,232	R129H		Het
Igsf9	A	G	1: 172,495,274	I602V	probably benign	Het
Inpp4b	T	G	8: 81,952,685		probably null	Het
Itch	C	A	2: 155,199,382	T450K	probably damaging	Het
Kcnq1	T	C	7: 143,109,415	F20L	unknown	Het
Kmt2d	G	T	15: 98,855,354	A153E	probably damaging	Het
Macf1	T	A	4: 123,504,470	N750I	probably damaging	Het
Marveld2	T	A	13: 100,611,476	H365L	probably damaging	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mettl8	A	T	2: 70,973,343	V200E	probably damaging	Het
Mrgbp	T	G	2: 180,585,342	S157A	possibly damaging	Het
Mrps35	A	G	6: 147,055,983	T169A	possibly damaging	Het
Mycbp2	A	T	14: 103,288,744	Y551N	probably damaging	Het
Myo18b	T	C	5: 112,874,105	R474G	probably benign	Het
Nfx1	T	A	4: 41,021,830	S979R	possibly damaging	Het
Nlrp1a	T	C	11: 71,122,808	T539A	probably benign	Het
Oca2	T	A	7: 56,414,397	D713E	probably benign	Het
Olfr433	T	A	1: 174,042,533	H194Q	probably benign	Het
Olfr60	C	T	7: 140,345,405	V195I	probably benign	Het
Olfr768	A	G	10: 129,093,212	I254T	probably damaging	Het
Olfr816	A	T	10: 129,912,251	V9D	possibly damaging	Het
Omt2b	A	C	9: 78,328,612	Y73S	probably benign	Het
Pde11a	G	T	2: 76,005,984	Q20K		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phrf1	C	A	7: 141,259,292	T800K	unknown	Het
Pramel4	T	C	4: 144,068,491	S486P	probably benign	Het
Proc	T	C	18: 32,127,460	D204G	probably benign	Het
Rasgrp3	T	A	17: 75,516,416	I494N	possibly damaging	Het
Samm50	A	G	15: 84,197,030	D53G	probably benign	Het
Satb1	T	C	17: 51,809,189	D22G	possibly damaging	Het
Scarf2	T	C	16: 17,807,054	S658P	probably damaging	Het
Sfta2	T	A	17: 35,614,518	I29K	unknown	Het
Slc15a4	A	T	5: 127,604,678	S292T	probably benign	Het
Slc37a1	C	T	17: 31,340,263	T439I	probably damaging	Het
Slc4a9	C	A	18: 36,530,805	P294Q	probably damaging	Het
Slc52a3	T	C	2: 152,004,166	S16P	probably damaging	Het
Slc6a15	A	G	10: 103,408,302	I468V	probably benign	Het
Spag17	T	C	3: 100,027,231	S610P	possibly damaging	Het
Spag17	A	T	3: 100,034,159	D738V	probably benign	Het
Ssbp4	T	C	8: 70,597,967	R269G	unknown	Het
Tbl1xr1	A	G	3: 22,203,190	T406A	possibly damaging	Het
Tep1	A	T	14: 50,866,855	V194D	possibly damaging	Het
Thbs4	A	T	13: 92,773,259	C343*	probably null	Het
Tmed10	A	T	12: 85,344,291	S158T	possibly damaging	Het
Trbv3	T	A	6: 41,048,590	V38E	probably damaging	Het
Ttc6	T	C	12: 57,696,986	M1258T	probably damaging	Het
Ttn	T	C	2: 76,758,976	D21281G	probably damaging	Het
Twistnb	T	G	12: 33,436,989	C150W	possibly damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn2r8	C	A	5: 108,808,583	E58*	probably null	Het
Vps13d	C	T	4: 145,141,254	E2009K		Het
Vps33b	T	C	7: 80,285,269	I320T	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Ythdf1	T	C	2: 180,911,993	Y143C	probably damaging	Het
Zfp213	C	T	17: 23,559,629		probably null	Het
Zfp219	A	T	14: 52,007,113	Y536*	probably null	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
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
R2174:Ddx60	UTSW	8	62017200	missense	probably benign	0.01
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	61954535	missense	possibly damaging	0.65
R4010:Ddx60	UTSW	8	61956144	missense	probably benign	0.25
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	61977950	missense	probably benign	0.00
R6416:Ddx60	UTSW	8	61998681	missense	probably benign
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
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
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'- GGAGGTCCTGGTTTCTGAAAC -3'
(R):5'- CGTGTCACACATCTGAATGCC -3'

Sequencing Primer
(F):5'- CTTGTATCCCAGGAAGAAG -3'
(R):5'- GTCACACATCTGAATGCCTTAATGAC -3'

Posted On

2019-10-07