Mutagenetix > Incidental Mutation

Incidental Mutation 'R1439:Ddx10'

160853

Institutional Source

Beutler Lab

Gene Symbol

Ddx10

Ensembl Gene

ENSMUSG00000053289

Gene Name

DEAD box helicase 10

Synonyms

4632415A01Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 10

MMRRC Submission

039494-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R1439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53009935-53159353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53151787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 79 (K79N)

Ref Sequence

ENSEMBL: ENSMUSP00000065198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065630]

AlphaFold

Q80Y44

Predicted Effect

probably damaging
Transcript: ENSMUST00000065630
AA Change: K79N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065198
Gene: ENSMUSG00000053289
AA Change: K79N

Domain	Start	End	E-Value	Type
low complexity region	24	43	N/A	INTRINSIC
DEXDc	88	291	1.74e-53	SMART
HELICc	327	410	8.48e-25	SMART
DUF4217	450	513	6.06e-25	SMART
low complexity region	577	594	N/A	INTRINSIC
low complexity region	627	637	N/A	INTRINSIC
low complexity region	658	680	N/A	INTRINSIC
low complexity region	748	773	N/A	INTRINSIC

Meta Mutation Damage Score

0.1802

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit craniofacial defects, including decreased cranium length, cleft palate, and short snout, and show reduced body size, body weight, lean body mass, and bone mineral content. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,770,908 (GRCm39)	N499S	probably damaging	Het
AI661453	C	A	17: 47,777,587 (GRCm39)		probably benign	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Alkbh1	A	G	12: 87,475,915 (GRCm39)	V289A	probably damaging	Het
Bnc2	C	T	4: 84,194,305 (GRCm39)	E1035K	probably benign	Het
C1s2	T	A	6: 124,607,126 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,492,640 (GRCm39)	I1885T	probably damaging	Het
Col22a1	A	G	15: 71,824,226 (GRCm39)		probably benign	Het
Cpne4	A	T	9: 104,866,831 (GRCm39)	T248S	probably damaging	Het
Cracd	T	C	5: 76,988,757 (GRCm39)	V36A	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Dennd1a	A	C	2: 37,933,412 (GRCm39)	L131R	probably damaging	Het
Dnah9	T	C	11: 65,764,958 (GRCm39)	Y3862C	probably benign	Het
Eif3e	A	G	15: 43,141,824 (GRCm39)		probably benign	Het
Emsy	T	C	7: 98,250,048 (GRCm39)		probably benign	Het
Ep400	A	T	5: 110,833,344 (GRCm39)	D1959E	unknown	Het
Fpr-rs7	A	G	17: 20,333,869 (GRCm39)	I207T	probably benign	Het
Fubp3	C	A	2: 31,488,563 (GRCm39)	L140I	probably damaging	Het
Gas2l2	T	C	11: 83,318,298 (GRCm39)	D137G	probably damaging	Het
Git1	G	T	11: 77,397,244 (GRCm39)	R699L	possibly damaging	Het
Gnao1	T	A	8: 94,690,065 (GRCm39)	F27L	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Itga6	T	G	2: 71,664,378 (GRCm39)	Y505D	probably damaging	Het
Itgad	A	T	7: 127,782,178 (GRCm39)	T205S	probably benign	Het
Jakmip3	A	T	7: 138,631,375 (GRCm39)	Y574F	probably benign	Het
Laptm5	G	T	4: 130,653,520 (GRCm39)		probably benign	Het
Mlana	A	T	19: 29,684,252 (GRCm39)	R71S	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mus81	G	C	19: 5,535,145 (GRCm39)	R295G	probably benign	Het
Ncapd3	T	A	9: 26,998,862 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,703,396 (GRCm39)	E218G	possibly damaging	Het
Nectin3	A	T	16: 46,268,757 (GRCm39)	Y548*	probably null	Het
Nif3l1	T	C	1: 58,487,102 (GRCm39)	F96S	probably damaging	Het
Ntrk1	A	G	3: 87,696,918 (GRCm39)		probably null	Het
Obsl1	C	A	1: 75,463,428 (GRCm39)	E1755*	probably null	Het
Or4p23	T	C	2: 88,577,178 (GRCm39)	E18G	possibly damaging	Het
Osbpl9	T	C	4: 108,958,353 (GRCm39)	D74G	probably damaging	Het
Osgin1	T	A	8: 120,169,852 (GRCm39)		probably null	Het
Otogl	A	G	10: 107,615,113 (GRCm39)	Y1931H	probably benign	Het
Pmepa1	A	G	2: 173,069,874 (GRCm39)	I227T	probably benign	Het
Pprc1	T	A	19: 46,052,175 (GRCm39)	N564K	possibly damaging	Het
Prkaa1	T	C	15: 5,194,225 (GRCm39)	F92S	probably damaging	Het
Ptprd	A	G	4: 75,984,437 (GRCm39)	F811L	probably damaging	Het
Rad54b	A	G	4: 11,606,152 (GRCm39)	K520R	possibly damaging	Het
Rbfox1	A	G	16: 7,148,297 (GRCm39)	T269A	possibly damaging	Het
Rfwd3	T	C	8: 112,004,920 (GRCm39)	Y554C	probably damaging	Het
Rfx2	A	T	17: 57,094,720 (GRCm39)	V208E	probably damaging	Het
Rgs22	G	T	15: 36,025,939 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,797,032 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,729,389 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,522,523 (GRCm39)		probably benign	Het
Secisbp2	T	C	13: 51,833,759 (GRCm39)		probably benign	Het
Sgsm2	C	A	11: 74,759,964 (GRCm39)	R58L	probably benign	Het
Slc25a36	A	C	9: 96,975,126 (GRCm39)		probably benign	Het
Spink4	A	G	4: 40,929,121 (GRCm39)	T49A	possibly damaging	Het
Steap3	A	T	1: 120,155,550 (GRCm39)	F470I	probably damaging	Het
Stk10	A	G	11: 32,567,919 (GRCm39)	Q907R	probably damaging	Het
Tdrd5	A	G	1: 156,105,057 (GRCm39)	V446A	probably damaging	Het
Tmem117	G	A	15: 94,992,478 (GRCm39)	M379I	probably benign	Het
Trappc12	A	G	12: 28,797,160 (GRCm39)	L124P	possibly damaging	Het
Trim9	G	A	12: 70,297,867 (GRCm39)	H613Y	probably damaging	Het
Trio	A	G	15: 27,898,000 (GRCm39)	W371R	probably damaging	Het
Ulk4	G	C	9: 121,095,324 (GRCm39)	H110D	possibly damaging	Het
Upb1	T	C	10: 75,275,776 (GRCm39)	V387A	probably benign	Het
Utrn	A	T	10: 12,619,793 (GRCm39)	I284N	possibly damaging	Het
Vmn2r111	C	A	17: 22,790,097 (GRCm39)	W303L	probably benign	Het
Vmn2r15	G	T	5: 109,441,953 (GRCm39)	P160Q	probably damaging	Het
Wdtc1	A	G	4: 133,029,118 (GRCm39)	S323P	probably benign	Het
Zfp846	T	A	9: 20,505,393 (GRCm39)	C418S	possibly damaging	Het
Zfyve26	G	T	12: 79,298,937 (GRCm39)	P441Q	probably benign	Het

Other mutations in Ddx10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Ddx10	APN	9	53,071,326 (GRCm39)	splice site	probably benign
IGL01111:Ddx10	APN	9	53,071,248 (GRCm39)	missense	possibly damaging	0.73
IGL01773:Ddx10	APN	9	53,115,430 (GRCm39)	missense	possibly damaging	0.94
IGL01837:Ddx10	APN	9	53,140,498 (GRCm39)	missense	probably benign	0.16
IGL02036:Ddx10	APN	9	53,115,483 (GRCm39)	missense	probably benign	0.00
IGL02236:Ddx10	APN	9	53,146,682 (GRCm39)	missense	probably damaging	1.00
IGL02939:Ddx10	APN	9	53,115,579 (GRCm39)	missense	possibly damaging	0.63
IGL03294:Ddx10	APN	9	53,028,452 (GRCm39)	critical splice donor site	probably null
R0279:Ddx10	UTSW	9	53,146,604 (GRCm39)	missense	probably damaging	1.00
R1501:Ddx10	UTSW	9	53,145,297 (GRCm39)	missense	possibly damaging	0.85
R1529:Ddx10	UTSW	9	53,028,499 (GRCm39)	nonsense	probably null
R1548:Ddx10	UTSW	9	53,060,861 (GRCm39)	critical splice acceptor site	probably null
R1717:Ddx10	UTSW	9	53,071,253 (GRCm39)	missense	probably benign	0.25
R1720:Ddx10	UTSW	9	53,149,371 (GRCm39)	missense	probably damaging	1.00
R1781:Ddx10	UTSW	9	53,118,845 (GRCm39)	missense	probably damaging	1.00
R2005:Ddx10	UTSW	9	53,151,775 (GRCm39)	critical splice donor site	probably null
R2007:Ddx10	UTSW	9	53,124,578 (GRCm39)	missense	probably benign	0.06
R2073:Ddx10	UTSW	9	53,151,805 (GRCm39)	missense	probably benign	0.28
R2075:Ddx10	UTSW	9	53,151,805 (GRCm39)	missense	probably benign	0.28
R2133:Ddx10	UTSW	9	53,060,812 (GRCm39)	missense	probably benign	0.13
R4660:Ddx10	UTSW	9	53,147,698 (GRCm39)	critical splice donor site	probably null
R4668:Ddx10	UTSW	9	53,010,513 (GRCm39)	missense	possibly damaging	0.55
R4706:Ddx10	UTSW	9	53,145,231 (GRCm39)	missense	probably damaging	1.00
R4814:Ddx10	UTSW	9	53,115,405 (GRCm39)	missense	possibly damaging	0.54
R5394:Ddx10	UTSW	9	53,145,157 (GRCm39)	nonsense	probably null
R5655:Ddx10	UTSW	9	53,120,987 (GRCm39)	critical splice donor site	probably null
R5874:Ddx10	UTSW	9	53,140,498 (GRCm39)	missense	possibly damaging	0.95
R6341:Ddx10	UTSW	9	53,115,551 (GRCm39)	missense	probably benign	0.00
R6534:Ddx10	UTSW	9	53,134,988 (GRCm39)	missense	probably damaging	1.00
R6801:Ddx10	UTSW	9	53,159,207 (GRCm39)	nonsense	probably null
R6994:Ddx10	UTSW	9	53,115,411 (GRCm39)	missense	probably damaging	0.99
R7155:Ddx10	UTSW	9	53,028,588 (GRCm39)	missense	probably benign	0.00
R7380:Ddx10	UTSW	9	53,151,786 (GRCm39)	missense	probably damaging	1.00
R7753:Ddx10	UTSW	9	53,136,904 (GRCm39)	missense	probably damaging	1.00
R8101:Ddx10	UTSW	9	53,136,820 (GRCm39)	missense	probably damaging	0.98
R8782:Ddx10	UTSW	9	53,146,588 (GRCm39)	missense	probably damaging	0.99
R8962:Ddx10	UTSW	9	53,149,377 (GRCm39)	missense	probably damaging	1.00
R8998:Ddx10	UTSW	9	53,140,534 (GRCm39)	missense	possibly damaging	0.64
R8999:Ddx10	UTSW	9	53,140,534 (GRCm39)	missense	possibly damaging	0.64
R9283:Ddx10	UTSW	9	53,146,656 (GRCm39)	missense	probably benign	0.01
X0019:Ddx10	UTSW	9	53,145,296 (GRCm39)	missense	probably damaging	1.00
X0063:Ddx10	UTSW	9	53,136,873 (GRCm39)	missense	probably damaging	1.00
Z1177:Ddx10	UTSW	9	53,115,811 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTCCAGAGCTTCCTGGTCCTTTT -3'
(R):5'- GTATCTGCCAAATGAGGTTGCTCCAT -3'

Sequencing Primer
(F):5'- ccttagaacctacaaaaaaatgctac -3'
(R):5'- AAGTGATGGTATGCTCCTAATTTTG -3'

Posted On

2014-03-14