Mutagenetix > Incidental Mutation

Incidental Mutation 'R6416:Ddx60'

517935

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

044558-MU

Accession Numbers

Essential gene?

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

Stock #

R6416 (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 62451715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 1202 (H1202Y)

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: H1201Y

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

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: H1201Y

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: H1202Y

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

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: H1202Y

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: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,504,779 (GRCm39)	R6L	unknown	Het
Anxa11	A	G	14: 25,874,694 (GRCm39)	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,199,065 (GRCm39)	M1K	probably null	Het
Atl2	G	A	17: 80,157,652 (GRCm39)	T563I	probably benign	Het
Azin1	A	T	15: 38,492,587 (GRCm39)	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,157,077 (GRCm39)	T118A	probably benign	Het
Chac1	G	A	2: 119,184,015 (GRCm39)	V206I	probably damaging	Het
Chrm3	A	G	13: 9,927,698 (GRCm39)	V446A	probably benign	Het
Cped1	T	C	6: 22,123,648 (GRCm39)	F467S	probably damaging	Het
Csmd3	G	A	15: 48,536,956 (GRCm39)	P82L	probably damaging	Het
Dnah8	T	A	17: 30,984,609 (GRCm39)	N3102K	probably benign	Het
Dst	A	T	1: 34,155,209 (GRCm39)	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,785 (GRCm39)	I839M	probably benign	Het
Fam184b	T	A	5: 45,694,995 (GRCm39)	M750L	probably benign	Het
Frem2	T	C	3: 53,479,799 (GRCm39)	T1965A	probably benign	Het
Ftl1	A	T	7: 45,108,634 (GRCm39)	D41E	probably benign	Het
Garem2	G	A	5: 30,321,735 (GRCm39)	W698*	probably null	Het
Glt8d2	T	C	10: 82,488,740 (GRCm39)	Y283C	probably damaging	Het
Hars1	T	C	18: 36,906,643 (GRCm39)	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,605,036 (GRCm39)	S121P	probably damaging	Het
Hus1b	A	T	13: 31,131,188 (GRCm39)	L157Q	probably damaging	Het
Hykk	A	G	9: 54,853,643 (GRCm39)	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Il17f	T	A	1: 20,848,131 (GRCm39)	M116L	probably benign	Het
Kif22	T	C	7: 126,628,104 (GRCm39)	K9E	possibly damaging	Het
Krt90	T	C	15: 101,467,679 (GRCm39)	E233G	probably benign	Het
Lipg	T	C	18: 75,090,307 (GRCm39)	M81V	probably benign	Het
Mocos	C	T	18: 24,834,513 (GRCm39)	S850L	probably damaging	Het
Mug2	T	A	6: 122,059,713 (GRCm39)	S1364T	probably damaging	Het
Neb	A	T	2: 52,075,340 (GRCm39)	N208K	probably benign	Het
Oca2	G	T	7: 55,978,515 (GRCm39)	R561L	probably benign	Het
Olfm5	A	G	7: 103,803,260 (GRCm39)	L401P	probably damaging	Het
Or12d17	T	A	17: 37,777,971 (GRCm39)	Y291*	probably null	Het
Or2t49	T	C	11: 58,393,166 (GRCm39)	D72G	probably damaging	Het
Or4a39	C	A	2: 89,236,866 (GRCm39)	A186S	possibly damaging	Het
Or7g16	G	A	9: 18,727,188 (GRCm39)	T134M	probably benign	Het
Or8g33	T	A	9: 39,338,187 (GRCm39)	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,259,860 (GRCm39)	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,145,222 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,176,186 (GRCm39)	I418V	probably benign	Het
Pih1d2	T	C	9: 50,529,909 (GRCm39)	V62A	probably benign	Het
Pkib	T	A	10: 57,604,234 (GRCm39)	V46E	probably damaging	Het
Pum1	A	G	4: 130,455,598 (GRCm39)		probably null	Het
Rbak	G	T	5: 143,162,307 (GRCm39)	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,781,959 (GRCm39)	T32A	probably damaging	Het
Shprh	T	C	10: 11,043,617 (GRCm39)	W835R	probably damaging	Het
Sis	T	G	3: 72,819,187 (GRCm39)	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,327,588 (GRCm39)	N675I	probably benign	Het
Slc8a3	C	A	12: 81,362,401 (GRCm39)	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,791,198 (GRCm39)	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,621,669 (GRCm39)	I96N	probably damaging	Het
Stx19	T	C	16: 62,642,420 (GRCm39)	S79P	probably damaging	Het
Tecta	C	T	9: 42,286,563 (GRCm39)	V698M	probably damaging	Het
Timm22	T	C	11: 76,301,965 (GRCm39)	S150P	probably damaging	Het
Tjp1	C	T	7: 64,962,953 (GRCm39)	D995N	possibly damaging	Het
Tmem135	T	A	7: 88,797,002 (GRCm39)	T365S	probably benign	Het
Tmem174	T	C	13: 98,773,489 (GRCm39)	T114A	probably benign	Het
Tnc	A	G	4: 63,926,053 (GRCm39)	I909T	probably benign	Het
Trcg1	A	G	9: 57,148,613 (GRCm39)	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,575,005 (GRCm39)	*487K	probably null	Het
Unc79	T	A	12: 103,097,905 (GRCm39)	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,321,982 (GRCm39)	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,614,697 (GRCm39)	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,689,861 (GRCm39)	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,975,378 (GRCm39)	V194G	probably damaging	Het
Zfp260	A	T	7: 29,804,235 (GRCm39)	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,505,016 (GRCm39)	H292L	possibly 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
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	62,430,984 (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'- GACAAGCAAGCACACTGTG -3'
(R):5'- GTACAATGTACAATGTGGCCACC -3'

Sequencing Primer
(F):5'- GCACCGAGTCATGATAATATAAATGC -3'
(R):5'- ACCACTGGCTGCCTGGAG -3'

Posted On

2018-05-24