Mutagenetix > Incidental Mutation

Incidental Mutation 'R9278:Ddx60'

703437

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

Essential gene?

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

Stock #

R9278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61928087-62038244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61977978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 849 (Y849F)

Ref Sequence

ENSEMBL: ENSMUSP00000091197 (fasta)

Gene Model

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

AlphaFold

E9PZQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070631
AA Change: Y848F

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: Y848F

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

possibly damaging
Transcript: ENSMUST00000093485
AA Change: Y849F

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: Y849F

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: 93.4%
3x: 93.4%
10x: 93.2%
20x: 92.9%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 13,804,008 (GRCm38)	C59S	probably damaging	Het
Aicda	C	T	6: 122,561,895 (GRCm38)	A161V	possibly damaging	Het
Ankrd12	C	T	17: 66,037,604 (GRCm38)	E91K	possibly damaging	Het
Arpc2	C	A	1: 74,236,882 (GRCm38)	F19L	probably benign	Het
Aspa	T	C	11: 73,324,454 (GRCm38)	K12E	possibly damaging	Het
Chd8	G	A	14: 52,235,170 (GRCm38)	P392L	probably benign	Het
Cldn10	C	T	14: 118,874,235 (GRCm38)	R206W	probably damaging	Het
Clec4b2	T	A	6: 123,204,265 (GRCm38)	M203K	probably damaging	Het
Clec4d	T	C	6: 123,274,690 (GRCm38)	M177T	probably benign	Het
Clec4d	G	T	6: 123,274,692 (GRCm38)	E178*	probably null	Het
Cmpk2	A	T	12: 26,469,569 (GRCm38)	Y73F	probably benign	Het
Col1a1	T	A	11: 94,947,277 (GRCm38)	V845D	unknown	Het
Cyp2c67	C	T	19: 39,609,255 (GRCm38)	R433Q	probably damaging	Het
Dda1	A	T	8: 71,474,486 (GRCm38)		probably null	Het
Dnm2	C	T	9: 21,505,681 (GRCm38)	R837W	possibly damaging	Het
Dtwd1	C	T	2: 126,164,808 (GRCm38)	T250I	probably damaging	Het
Efcab6	A	G	15: 83,892,893 (GRCm38)	V1114A	probably damaging	Het
Fat4	A	G	3: 38,891,022 (GRCm38)	T1355A	probably benign	Het
Fbxo40	T	G	16: 36,969,578 (GRCm38)	D390A	possibly damaging	Het
Gm7534	A	G	4: 134,195,459 (GRCm38)	L521P	probably damaging	Het
Gnaz	T	A	10: 74,991,605 (GRCm38)	L63Q	probably benign	Het
H6pd	T	A	4: 149,995,850 (GRCm38)	K179N	probably damaging	Het
Hmgb2	A	G	8: 57,512,752 (GRCm38)		probably benign	Het
Hps5	A	G	7: 46,790,973 (GRCm38)	F18L	probably benign	Het
Hyal5	A	G	6: 24,876,695 (GRCm38)	E189G	probably benign	Het
Ifnar1	T	A	16: 91,505,125 (GRCm38)	I496N	probably damaging	Het
Igf2r	C	A	17: 12,695,353 (GRCm38)	C1743F	probably damaging	Het
Igfn1	C	A	1: 135,973,447 (GRCm38)	R431L	probably damaging	Het
Itch	A	G	2: 155,203,297 (GRCm38)	Q507R	probably benign	Het
Kbtbd2	C	A	6: 56,780,346 (GRCm38)	R135L	probably damaging	Het
Kcnn2	T	C	18: 45,592,379 (GRCm38)	I314T	probably damaging	Het
Lix1	A	G	17: 17,402,949 (GRCm38)	D2G	probably damaging	Het
Lrp1b	T	C	2: 40,597,064 (GRCm38)	Y4557C		Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Mcam	G	T	9: 44,135,176 (GRCm38)		probably benign	Het
Med19	G	T	2: 84,678,631 (GRCm38)	G63C	probably damaging	Het
Mfsd4b1	C	T	10: 40,007,334 (GRCm38)	R40H	probably damaging	Het
Neb	C	T	2: 52,256,178 (GRCm38)	R2929H	probably damaging	Het
Nlrc5	A	G	8: 94,511,280 (GRCm38)	D1434G	probably benign	Het
Nlrp14	A	T	7: 107,197,842 (GRCm38)	N972I	probably damaging	Het
Olfr1247	A	C	2: 89,609,604 (GRCm38)	F166C	probably damaging	Het
Olfr128	A	T	17: 37,924,384 (GRCm38)	M273L	probably benign	Het
Olfr132	A	T	17: 38,130,802 (GRCm38)	L130Q	probably damaging	Het
Olfr46	T	C	7: 140,611,023 (GRCm38)	Y278H	probably damaging	Het
Olfr947-ps1	A	G	9: 39,289,485 (GRCm38)	V135A	probably benign	Het
Otop1	T	C	5: 38,302,815 (GRCm38)	V575A	probably damaging	Het
Pcdhb4	A	G	18: 37,308,872 (GRCm38)	S412G	possibly damaging	Het
Pcsk4	T	C	10: 80,325,390 (GRCm38)	D230G	probably damaging	Het
Phldb2	C	A	16: 45,825,945 (GRCm38)	S46I	probably damaging	Het
Pik3ca	A	T	3: 32,454,438 (GRCm38)	N785I	probably damaging	Het
Polr2b	A	G	5: 77,323,638 (GRCm38)	R274G	probably damaging	Het
Prkdc	G	A	16: 15,816,659 (GRCm38)		probably null	Het
Prune2	C	T	19: 17,123,780 (GRCm38)	T2216I	probably benign	Het
Psma3	A	T	12: 70,994,382 (GRCm38)	D252V	probably benign	Het
Rnf213	T	C	11: 119,435,942 (GRCm38)	V1586A		Het
Ryr2	T	C	13: 11,883,090 (GRCm38)	T140A	probably benign	Het
Slc25a48	A	G	13: 56,463,739 (GRCm38)	I220V	probably benign	Het
Slc2a1	A	T	4: 119,133,410 (GRCm38)	E246D	probably benign	Het
Slc45a4	A	G	15: 73,586,357 (GRCm38)	Y448H	probably benign	Het
Sorl1	C	T	9: 42,046,561 (GRCm38)	V596I	probably benign	Het
Spag6	A	C	2: 18,699,174 (GRCm38)	E11A	probably benign	Het
Spef2	A	G	15: 9,727,409 (GRCm38)		probably null	Het
Spon1	T	C	7: 114,028,953 (GRCm38)	S315P	probably damaging	Het
Stard3	G	A	11: 98,372,105 (GRCm38)		probably benign	Het
Sv2c	A	G	13: 95,976,081 (GRCm38)	M636T	probably damaging	Het
Syt17	T	A	7: 118,434,257 (GRCm38)	D172V	probably damaging	Het
Tcf4	A	G	18: 69,633,581 (GRCm38)	Y206C	probably damaging	Het
Tead2	G	T	7: 45,231,352 (GRCm38)	S318I	probably benign	Het
Tom1	A	T	8: 75,057,255 (GRCm38)	D289V	probably damaging	Het
Tonsl	A	G	15: 76,636,771 (GRCm38)		probably benign	Het
Tsen15	T	C	1: 152,383,347 (GRCm38)	I87V	probably damaging	Het
Ttc30a2	T	C	2: 75,977,031 (GRCm38)	D379G	probably damaging	Het
Usp15	A	G	10: 123,171,207 (GRCm38)	F123S	probably damaging	Het
Vmn1r220	A	T	13: 23,184,088 (GRCm38)	I146N	possibly damaging	Het
Vmn2r108	A	T	17: 20,472,299 (GRCm38)	N98K	probably benign	Het
Vmn2r71	T	A	7: 85,620,580 (GRCm38)	M433K	probably benign	Het
Vmn2r97	A	T	17: 18,914,500 (GRCm38)	H60L	probably benign	Het
Wbp4	A	G	14: 79,462,046 (GRCm38)	V336A	probably benign	Het
Zfp663	T	C	2: 165,360,090 (GRCm38)		probably null	Het

Other mutations in Ddx60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ddx60	APN	8	61,958,646 (GRCm38)	missense	probably damaging	1.00
IGL00915:Ddx60	APN	8	61,987,431 (GRCm38)	missense	possibly damaging	0.79
IGL00931:Ddx60	APN	8	61,969,583 (GRCm38)	missense	probably benign	0.18
IGL01023:Ddx60	APN	8	61,942,514 (GRCm38)	missense	probably damaging	0.99
IGL01313:Ddx60	APN	8	61,982,526 (GRCm38)	missense	probably damaging	1.00
IGL01615:Ddx60	APN	8	61,963,740 (GRCm38)	missense	probably null	0.81
IGL01733:Ddx60	APN	8	61,983,865 (GRCm38)	missense	probably damaging	0.99
IGL01779:Ddx60	APN	8	62,017,823 (GRCm38)	missense	possibly damaging	0.94
IGL01900:Ddx60	APN	8	62,000,709 (GRCm38)	splice site	probably benign
IGL02110:Ddx60	APN	8	62,017,247 (GRCm38)	critical splice donor site	probably null
IGL02302:Ddx60	APN	8	61,975,832 (GRCm38)	missense	possibly damaging	0.85
IGL02468:Ddx60	APN	8	61,958,642 (GRCm38)	missense	probably damaging	1.00
IGL02569:Ddx60	APN	8	62,024,951 (GRCm38)	missense	possibly damaging	0.93
IGL02622:Ddx60	APN	8	61,942,436 (GRCm38)	splice site	probably null
IGL02657:Ddx60	APN	8	61,984,115 (GRCm38)	missense	probably benign	0.01
IGL02677:Ddx60	APN	8	61,988,132 (GRCm38)	missense	probably damaging	1.00
IGL02701:Ddx60	APN	8	61,979,341 (GRCm38)	missense	probably damaging	0.96
IGL02806:Ddx60	APN	8	61,956,122 (GRCm38)	missense	probably benign	0.00
IGL03137:Ddx60	APN	8	61,988,083 (GRCm38)	missense	possibly damaging	0.61
IGL03295:Ddx60	APN	8	61,956,121 (GRCm38)	missense	possibly damaging	0.82
IGL03387:Ddx60	APN	8	62,012,449 (GRCm38)	missense	probably damaging	1.00
IGL03411:Ddx60	APN	8	61,977,882 (GRCm38)	critical splice acceptor site	probably null
Scatter	UTSW	8	62,021,314 (GRCm38)	missense	possibly damaging	0.80
shotgun	UTSW	8	62,037,067 (GRCm38)	missense	probably benign	0.28
splay	UTSW	8	62,021,309 (GRCm38)	missense	possibly damaging	0.80
G1Funyon:Ddx60	UTSW	8	62,000,597 (GRCm38)	missense	probably benign	0.01
PIT4504001:Ddx60	UTSW	8	61,958,113 (GRCm38)	missense	probably benign
PIT4677001:Ddx60	UTSW	8	61,972,254 (GRCm38)	missense	possibly damaging	0.87
R0090:Ddx60	UTSW	8	61,942,293 (GRCm38)	missense	probably damaging	1.00
R0266:Ddx60	UTSW	8	62,033,493 (GRCm38)	missense	possibly damaging	0.92
R0325:Ddx60	UTSW	8	61,983,855 (GRCm38)	missense	probably benign	0.00
R0367:Ddx60	UTSW	8	62,017,749 (GRCm38)	missense	possibly damaging	0.78
R0403:Ddx60	UTSW	8	61,994,541 (GRCm38)	splice site	probably benign
R0479:Ddx60	UTSW	8	61,969,657 (GRCm38)	missense	probably damaging	1.00
R0561:Ddx60	UTSW	8	62,017,794 (GRCm38)	missense	possibly damaging	0.93
R0844:Ddx60	UTSW	8	61,987,361 (GRCm38)	missense	probably benign	0.27
R1119:Ddx60	UTSW	8	61,942,544 (GRCm38)	missense	probably damaging	1.00
R1428:Ddx60	UTSW	8	61,958,159 (GRCm38)	splice site	probably benign
R1778:Ddx60	UTSW	8	61,974,176 (GRCm38)	missense	possibly damaging	0.85
R1840:Ddx60	UTSW	8	61,969,553 (GRCm38)	missense	probably damaging	0.99
R1964:Ddx60	UTSW	8	61,948,869 (GRCm38)	missense	probably benign	0.10
R1970:Ddx60	UTSW	8	61,972,206 (GRCm38)	missense	possibly damaging	0.93
R2101:Ddx60	UTSW	8	61,940,645 (GRCm38)	missense	probably damaging	1.00
R2174:Ddx60	UTSW	8	62,017,200 (GRCm38)	missense	probably benign	0.01
R2174:Ddx60	UTSW	8	61,956,141 (GRCm38)	missense	probably damaging	1.00
R2198:Ddx60	UTSW	8	61,958,063 (GRCm38)	missense	possibly damaging	0.79
R2332:Ddx60	UTSW	8	62,037,091 (GRCm38)	missense	probably benign	0.08
R2338:Ddx60	UTSW	8	62,012,436 (GRCm38)	missense	possibly damaging	0.91
R2379:Ddx60	UTSW	8	62,037,088 (GRCm38)	missense	probably damaging	1.00
R4010:Ddx60	UTSW	8	61,956,144 (GRCm38)	missense	probably benign	0.25
R4010:Ddx60	UTSW	8	61,954,535 (GRCm38)	missense	possibly damaging	0.65
R4133:Ddx60	UTSW	8	61,972,220 (GRCm38)	missense	probably damaging	0.99
R4282:Ddx60	UTSW	8	61,994,393 (GRCm38)	missense	probably damaging	0.99
R4382:Ddx60	UTSW	8	61,948,978 (GRCm38)	splice site	probably null
R4561:Ddx60	UTSW	8	61,942,461 (GRCm38)	missense	probably damaging	0.96
R4572:Ddx60	UTSW	8	61,987,421 (GRCm38)	missense	probably damaging	1.00
R4581:Ddx60	UTSW	8	62,023,261 (GRCm38)	missense	possibly damaging	0.90
R4635:Ddx60	UTSW	8	62,037,067 (GRCm38)	missense	probably benign	0.28
R4698:Ddx60	UTSW	8	62,012,424 (GRCm38)	missense	probably benign	0.01
R4807:Ddx60	UTSW	8	61,979,338 (GRCm38)	missense	probably damaging	1.00
R4858:Ddx60	UTSW	8	62,021,314 (GRCm38)	missense	possibly damaging	0.80
R4964:Ddx60	UTSW	8	61,979,338 (GRCm38)	missense	probably damaging	1.00
R5120:Ddx60	UTSW	8	61,945,906 (GRCm38)	missense	probably benign	0.01
R5187:Ddx60	UTSW	8	61,974,188 (GRCm38)	missense	probably damaging	1.00
R5222:Ddx60	UTSW	8	61,984,158 (GRCm38)	missense	probably damaging	0.99
R5400:Ddx60	UTSW	8	62,010,002 (GRCm38)	missense	possibly damaging	0.65
R5500:Ddx60	UTSW	8	61,950,451 (GRCm38)	missense	probably benign	0.28
R5514:Ddx60	UTSW	8	61,958,057 (GRCm38)	missense	probably damaging	1.00
R5668:Ddx60	UTSW	8	62,000,578 (GRCm38)	missense	probably benign	0.38
R5742:Ddx60	UTSW	8	61,948,921 (GRCm38)	missense	probably benign
R5772:Ddx60	UTSW	8	61,948,897 (GRCm38)	missense	probably damaging	1.00
R5810:Ddx60	UTSW	8	62,012,388 (GRCm38)	nonsense	probably null
R5815:Ddx60	UTSW	8	61,963,722 (GRCm38)	missense	probably damaging	0.98
R5820:Ddx60	UTSW	8	61,956,121 (GRCm38)	missense	possibly damaging	0.82
R5866:Ddx60	UTSW	8	61,940,740 (GRCm38)	missense	probably damaging	1.00
R5881:Ddx60	UTSW	8	62,037,070 (GRCm38)	missense	probably damaging	1.00
R5977:Ddx60	UTSW	8	62,021,410 (GRCm38)	critical splice donor site	probably null
R6048:Ddx60	UTSW	8	62,000,582 (GRCm38)	missense	probably benign	0.01
R6061:Ddx60	UTSW	8	62,023,241 (GRCm38)	missense	probably null	0.01
R6153:Ddx60	UTSW	8	61,945,940 (GRCm38)	missense	possibly damaging	0.47
R6287:Ddx60	UTSW	8	61,950,578 (GRCm38)	missense	probably damaging	1.00
R6415:Ddx60	UTSW	8	61,983,905 (GRCm38)	missense	probably benign	0.00
R6416:Ddx60	UTSW	8	61,998,681 (GRCm38)	missense	probably benign
R6416:Ddx60	UTSW	8	61,977,950 (GRCm38)	missense	probably benign	0.00
R6660:Ddx60	UTSW	8	61,956,239 (GRCm38)	missense	probably benign	0.00
R6694:Ddx60	UTSW	8	62,037,070 (GRCm38)	missense	probably damaging	1.00
R6715:Ddx60	UTSW	8	61,983,890 (GRCm38)	missense	probably benign	0.03
R6720:Ddx60	UTSW	8	62,000,689 (GRCm38)	missense	probably benign	0.10
R6937:Ddx60	UTSW	8	62,037,069 (GRCm38)	missense	probably damaging	1.00
R7153:Ddx60	UTSW	8	61,988,108 (GRCm38)	missense	possibly damaging	0.71
R7274:Ddx60	UTSW	8	61,940,108 (GRCm38)	critical splice donor site	probably null
R7409:Ddx60	UTSW	8	61,958,578 (GRCm38)	missense	probably benign	0.24
R7464:Ddx60	UTSW	8	61,940,674 (GRCm38)	missense	possibly damaging	0.82
R7670:Ddx60	UTSW	8	61,975,792 (GRCm38)	missense	probably damaging	1.00
R7904:Ddx60	UTSW	8	61,977,890 (GRCm38)	missense	possibly damaging	0.81
R7992:Ddx60	UTSW	8	61,954,535 (GRCm38)	missense	probably benign	0.03
R8124:Ddx60	UTSW	8	61,983,911 (GRCm38)	missense	probably benign
R8125:Ddx60	UTSW	8	61,983,911 (GRCm38)	missense	probably benign
R8126:Ddx60	UTSW	8	61,983,911 (GRCm38)	missense	probably benign
R8155:Ddx60	UTSW	8	62,017,171 (GRCm38)	missense	possibly damaging	0.61
R8174:Ddx60	UTSW	8	62,017,250 (GRCm38)	splice site	probably null
R8192:Ddx60	UTSW	8	61,977,968 (GRCm38)	missense	probably damaging	1.00
R8271:Ddx60	UTSW	8	61,940,108 (GRCm38)	critical splice donor site	probably null
R8301:Ddx60	UTSW	8	62,000,597 (GRCm38)	missense	probably benign	0.01
R8304:Ddx60	UTSW	8	61,998,769 (GRCm38)	missense	possibly damaging	0.67
R8319:Ddx60	UTSW	8	61,942,635 (GRCm38)	critical splice donor site	probably null
R8374:Ddx60	UTSW	8	61,974,171 (GRCm38)	missense	probably benign	0.01
R8401:Ddx60	UTSW	8	61,956,243 (GRCm38)	missense	possibly damaging	0.57
R8487:Ddx60	UTSW	8	61,974,150 (GRCm38)	missense	probably damaging	1.00
R8804:Ddx60	UTSW	8	61,958,606 (GRCm38)	missense	probably benign	0.27
R8826:Ddx60	UTSW	8	61,945,956 (GRCm38)	missense	probably benign	0.02
R8829:Ddx60	UTSW	8	61,940,661 (GRCm38)	missense	probably damaging	1.00
R8881:Ddx60	UTSW	8	62,021,309 (GRCm38)	missense	possibly damaging	0.80
R8884:Ddx60	UTSW	8	61,994,519 (GRCm38)	missense	possibly damaging	0.86
R8990:Ddx60	UTSW	8	61,974,134 (GRCm38)	nonsense	probably null
R9122:Ddx60	UTSW	8	61,989,864 (GRCm38)	missense	probably benign	0.16
R9225:Ddx60	UTSW	8	62,017,841 (GRCm38)	missense	probably benign	0.36
R9293:Ddx60	UTSW	8	62,009,960 (GRCm38)	missense	possibly damaging	0.89
R9405:Ddx60	UTSW	8	61,972,214 (GRCm38)	missense	probably benign	0.03
R9766:Ddx60	UTSW	8	62,012,278 (GRCm38)	missense	probably damaging	1.00
X0003:Ddx60	UTSW	8	62,033,417 (GRCm38)	missense	possibly damaging	0.88
X0019:Ddx60	UTSW	8	61,963,692 (GRCm38)	missense	probably benign	0.01
Z1177:Ddx60	UTSW	8	62,000,588 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GGACATATCTTCTCTCATACTTGGATC -3'
(R):5'- CAGAAAATGACCTTGATTTATCACG -3'

Sequencing Primer
(F):5'- CTGGAATTCACTCTGTAGACCAGG -3'
(R):5'- GACCTTGATTTATCACGTTCTTTAAC -3'

Posted On

2022-03-25