Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4677001:Ddx60'

556557

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

Accession Numbers

Essential gene?

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

Stock #

PIT4677001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62381121-62490735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62425288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 692 (K692I)

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: K691I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: K691I

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: K692I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: K692I

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: 93.3%
3x: 90.8%
10x: 84.5%
20x: 71.0%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	A	2: 127,028,933 (GRCm39)	T89S	probably benign	Het
4921517D22Rik	A	T	13: 59,838,305 (GRCm39)	F176I	probably benign	Het
Acsm3	A	G	7: 119,374,340 (GRCm39)	D264G	probably damaging	Het
Adamts12	T	A	15: 11,286,896 (GRCm39)	F834I	probably benign	Het
Arhgap45	A	T	10: 79,856,583 (GRCm39)	M171L	probably benign	Het
Arid5b	A	T	10: 67,933,841 (GRCm39)	M687K	probably damaging	Het
AU040320	A	T	4: 126,686,030 (GRCm39)	Q202L	probably benign	Het
Ccdc47	A	G	11: 106,099,034 (GRCm39)	L219P	probably damaging	Het
Cfhr2	T	G	1: 139,733,117 (GRCm39)	S301R	unknown	Het
Cog2	T	A	8: 125,272,010 (GRCm39)	V508E	probably benign	Het
Cpb2	A	G	14: 75,493,463 (GRCm39)	T47A	probably benign	Het
Defb34	A	T	8: 19,176,412 (GRCm39)	R34S	possibly damaging	Het
Fads2	A	T	19: 10,047,694 (GRCm39)	I275N	probably damaging	Het
Fmn2	T	G	1: 174,474,699 (GRCm39)	S1221A	probably damaging	Het
Fndc3a	A	T	14: 72,812,035 (GRCm39)	V302E	probably benign	Het
Galntl6	C	T	8: 58,310,621 (GRCm39)	C360Y	probably damaging	Het
Gm16519	A	T	17: 71,236,506 (GRCm39)	I152F	probably benign	Het
Hnrnpr	T	A	4: 136,056,750 (GRCm39)	V250D	probably damaging	Het
Hs3st6	A	G	17: 24,977,285 (GRCm39)	D255G	possibly damaging	Het
Ift70a1	A	G	2: 75,810,113 (GRCm39)	Y657H	possibly damaging	Het
Ino80	C	T	2: 119,208,026 (GRCm39)	V1422M	probably benign	Het
Insyn2b	A	T	11: 34,353,122 (GRCm39)	N388I	probably benign	Het
Kcnu1	A	G	8: 26,396,021 (GRCm39)	I669V	probably benign	Het
Layn	A	T	9: 50,968,711 (GRCm39)	V344E	probably damaging	Het
Mgll	A	T	6: 88,802,663 (GRCm39)	R273W	possibly damaging	Het
Myh2	G	A	11: 67,072,818 (GRCm39)	S636N	probably benign	Het
Nmur2	A	T	11: 55,923,835 (GRCm39)	S240T	probably benign	Het
Pkd1	T	G	17: 24,793,003 (GRCm39)	S1563R	possibly damaging	Het
Ppp4r3b	G	A	11: 29,137,978 (GRCm39)	V109I	probably benign	Het
Prdm2	A	T	4: 142,861,648 (GRCm39)	D547E	probably damaging	Het
Prss46	A	T	9: 110,685,098 (GRCm39)	M241L	probably benign	Het
Ptprf	T	A	4: 118,070,809 (GRCm39)	I1397F	probably damaging	Het
Pus10	A	T	11: 23,670,171 (GRCm39)	T418S	possibly damaging	Het
Qsox2	T	C	2: 26,112,320 (GRCm39)	D74G	probably damaging	Het
Sctr	T	C	1: 119,989,634 (GRCm39)	V383A	probably damaging	Het
Siglec1	T	A	2: 130,914,677 (GRCm39)	N1480Y	probably damaging	Het
Skint2	T	C	4: 112,483,135 (GRCm39)	I180T	probably benign	Het
Snd1	A	G	6: 28,880,295 (GRCm39)	I690V	probably benign	Het
Spire1	T	C	18: 67,624,435 (GRCm39)	T575A	probably damaging	Het
Srbd1	G	A	17: 86,422,640 (GRCm39)	R459*	probably null	Het
Tll2	C	A	19: 41,118,997 (GRCm39)	V244L	probably benign	Het
Tmem60	A	G	5: 21,091,366 (GRCm39)	I44V	probably benign	Het
Utrn	T	A	10: 12,542,448 (GRCm39)	I1846F	probably benign	Het
Vinac1	T	C	2: 128,880,636 (GRCm39)	D430G		Het
Vps8	T	C	16: 21,319,084 (GRCm39)	F641S	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
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	62,451,715 (GRCm39)	missense	probably benign
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'- AAGCTAGGTGGTTGAGCTTC -3'
(R):5'- CAGAAAGCTAGCAGTCTTAAGCAG -3'

Sequencing Primer
(F):5'- AGGTGGTTGAGCTTCGTTAATTAAC -3'
(R):5'- TCTGAAAAGCTGTCTAGGGC -3'

Posted On

2019-06-07