Mutagenetix > Incidental Mutation

Incidental Mutation 'R7153:Ddx60'

554260

Institutional Source

Beutler Lab

Gene Symbol

Ddx60

Ensembl Gene

ENSMUSG00000037921

Gene Name

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

Synonyms

MMRRC Submission

045255-MU

Accession Numbers

Essential gene?

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

Stock #

R7153 (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 61988108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1070 (K1070N)

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: K1069N

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: K1069N

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: K1070N

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: K1070N

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	A	G	6: 125,992,943 (GRCm38)	T741A	possibly damaging	Het
Aox4	T	C	1: 58,250,219 (GRCm38)	M767T	probably damaging	Het
Arhgap39	C	A	15: 76,765,491 (GRCm38)	S27I	probably benign	Het
AU018091	T	A	7: 3,159,513 (GRCm38)	M296L	probably benign	Het
Axin1	A	G	17: 26,187,968 (GRCm38)	T512A	probably benign	Het
B4galnt3	A	T	6: 120,214,968 (GRCm38)	D602E	probably benign	Het
Bcl6	G	A	16: 23,966,226 (GRCm38)	R675*	probably null	Het
Bsnd	A	T	4: 106,492,033 (GRCm38)	D3E	probably benign	Het
Btbd18	C	T	2: 84,666,428 (GRCm38)	R137*	probably null	Het
C2cd5	A	G	6: 143,019,409 (GRCm38)	S871P	probably benign	Het
Cobl	G	T	11: 12,254,128 (GRCm38)	P858Q	probably damaging	Het
Col6a1	C	T	10: 76,710,341 (GRCm38)		probably null	Het
Crb2	A	T	2: 37,787,408 (GRCm38)	H304L	probably benign	Het
Crybg1	T	A	10: 43,964,666 (GRCm38)	Y1812F	possibly damaging	Het
Defb22	T	C	2: 152,485,920 (GRCm38)	K115R	unknown	Het
Dhx8	C	T	11: 101,740,175 (GRCm38)		probably null	Het
Dnah5	T	A	15: 28,365,522 (GRCm38)		probably null	Het
Dnah7b	T	A	1: 46,126,804 (GRCm38)	F543Y	probably benign	Het
Ehhadh	A	G	16: 21,766,321 (GRCm38)	F270S	probably damaging	Het
Esyt2	A	G	12: 116,346,508 (GRCm38)	M397V	probably benign	Het
Fanca	A	T	8: 123,316,425 (GRCm38)	L74H	probably damaging	Het
Fbxl17	C	A	17: 63,060,351 (GRCm38)	V676F	probably benign	Het
Fndc1	A	G	17: 7,801,645 (GRCm38)	V102A	probably damaging	Het
Gpalpp1	T	C	14: 76,095,011 (GRCm38)	Y273C	probably damaging	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188 (GRCm38)		probably benign	Het
Grik2	T	C	10: 49,535,367 (GRCm38)	H225R	probably benign	Het
Helz2	A	T	2: 181,231,285 (GRCm38)	S2411T	probably benign	Het
Hnmt	C	T	2: 24,014,341 (GRCm38)	A103T	probably damaging	Het
Ighv15-2	G	T	12: 114,564,590 (GRCm38)	Y114*	probably null	Het
Irak2	A	G	6: 113,678,709 (GRCm38)	H357R	probably benign	Het
Kcp	T	C	6: 29,499,015 (GRCm38)	E320G	probably damaging	Het
Kpna4	A	G	3: 69,089,798 (GRCm38)	L352S	probably damaging	Het
Krt36	G	A	11: 100,105,146 (GRCm38)	Q151*	probably null	Het
Krt77	G	A	15: 101,865,496 (GRCm38)	T241M	probably benign	Het
Lca5l	T	A	16: 96,173,809 (GRCm38)	N305I	probably damaging	Het
Lefty1	T	A	1: 180,937,767 (GRCm38)	L300Q	probably benign	Het
Mertk	A	G	2: 128,736,649 (GRCm38)	Y185C	probably damaging	Het
Mmp14	T	C	14: 54,436,251 (GRCm38)	I124T	possibly damaging	Het
Nlrc4	T	C	17: 74,447,103 (GRCm38)	E95G	possibly damaging	Het
Npc1	A	G	18: 12,213,291 (GRCm38)	F283L	possibly damaging	Het
Olfr1180	A	C	2: 88,412,118 (GRCm38)	L180W	probably damaging	Het
Olfr1282	A	T	2: 111,335,901 (GRCm38)	M59K	probably damaging	Het
Pcdha11	T	C	18: 37,011,225 (GRCm38)	V123A	probably damaging	Het
Pcdhga2	T	C	18: 37,669,208 (GRCm38)	V35A	probably damaging	Het
Pgd	G	T	4: 149,161,678 (GRCm38)	T94K	probably benign	Het
Pik3c2a	T	C	7: 116,342,252 (GRCm38)	N1593S	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Plcb3	A	G	19: 6,958,084 (GRCm38)		probably null	Het
Prkd3	C	T	17: 78,966,355 (GRCm38)	D491N	probably benign	Het
Ptprf	T	C	4: 118,231,543 (GRCm38)	T688A	probably damaging	Het
Pycr2	T	A	1: 180,906,682 (GRCm38)	L210M	probably damaging	Het
Rpl36	T	C	17: 56,614,137 (GRCm38)	I81T	probably benign	Het
Rraga	C	T	4: 86,576,016 (GRCm38)	A33V	probably damaging	Het
Slc29a1	G	A	17: 45,585,762 (GRCm38)	A429V	probably damaging	Het
Stab1	T	G	14: 31,160,584 (GRCm38)	E432A	probably benign	Het
Synj1	C	T	16: 90,948,090 (GRCm38)	G1189R	probably benign	Het
Synpo2	A	G	3: 123,112,404 (GRCm38)	*1088Q	probably null	Het
Tbc1d21	T	C	9: 58,363,093 (GRCm38)	D133G	probably damaging	Het
Tenm2	A	G	11: 36,024,182 (GRCm38)	V2176A	probably damaging	Het
Tff1	A	G	17: 31,162,798 (GRCm38)	I35T	probably benign	Het
Thnsl1	T	C	2: 21,212,953 (GRCm38)	V506A	possibly damaging	Het
Timm10b	A	G	7: 105,640,880 (GRCm38)	Q50R	unknown	Het
Tjp2	A	T	19: 24,101,981 (GRCm38)	N843K	probably benign	Het
Tle1	A	T	4: 72,139,061 (GRCm38)	F101I	probably benign	Het
Tmem225	T	C	9: 40,148,368 (GRCm38)	F15L	probably benign	Het
Trav12-3	T	C	14: 53,622,161 (GRCm38)	L88P	probably benign	Het
Ttc7b	A	T	12: 100,355,034 (GRCm38)	W613R	probably damaging	Het
Ttn	T	A	2: 76,778,504 (GRCm38)	M17723L	probably benign	Het
Ttn	T	C	2: 76,945,316 (GRCm38)	D1840G	unknown	Het
Tubgcp2	T	C	7: 140,001,036 (GRCm38)	H668R	probably benign	Het
Ush2a	C	A	1: 188,728,484 (GRCm38)	N2647K	possibly damaging	Het
Vmn1r14	C	T	6: 57,233,866 (GRCm38)	S143F	probably benign	Het
Vmn2r70	A	G	7: 85,565,054 (GRCm38)	S297P	probably damaging	Het
Ywhab	T	C	2: 164,014,060 (GRCm38)	F119L	probably damaging	Het
Zmym2	T	A	14: 56,950,202 (GRCm38)	D1108E	probably benign	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
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
R9278:Ddx60	UTSW	8	61,977,978 (GRCm38)	missense	possibly damaging	0.83
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'- TGCTTTCTTCAGAGGCCTGC -3'
(R):5'- AGAATCACTACACATCAAGTTGAGC -3'

Sequencing Primer
(F):5'- TTTCTAACCGTAAACATCTCCAGC -3'
(R):5'- CAATACAGAATGCTGTGTGAA -3'

Posted On

2019-05-15