Mutagenetix > Incidental Mutation

Incidental Mutation 'R5394:Ddx10'

426056

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

042966-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R5394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53009935-53159353 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 53145157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 273 (Y273*)

Ref Sequence

ENSEMBL: ENSMUSP00000065198 (fasta)

Gene Model

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

AlphaFold

Q80Y44

Predicted Effect

probably null
Transcript: ENSMUST00000065630
AA Change: Y273*

SMART Domains

Protein: ENSMUSP00000065198
Gene: ENSMUSG00000053289
AA Change: Y273*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,356,363 (GRCm39)	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,356,713 (GRCm39)	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,896,174 (GRCm39)	T341A	probably benign	Het
Adamts13	G	A	2: 26,876,570 (GRCm39)	V495I	probably benign	Het
Alms1	C	A	6: 85,600,070 (GRCm39)	T2101K	probably benign	Het
Als2	T	C	1: 59,214,105 (GRCm39)	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,412,496 (GRCm39)	M275K	probably benign	Het
Arfip2	A	T	7: 105,286,183 (GRCm39)	Y161*	probably null	Het
Asap3	A	T	4: 135,968,570 (GRCm39)	E707D	probably benign	Het
Atm	C	T	9: 53,419,077 (GRCm39)		probably null	Het
Atp9b	A	T	18: 80,820,052 (GRCm39)	S577R	probably benign	Het
Bltp1	G	T	3: 36,971,817 (GRCm39)	V517F	probably damaging	Het
Camk1d	G	C	2: 5,308,177 (GRCm39)	D274E	probably benign	Het
Cebpz	C	T	17: 79,229,634 (GRCm39)	D907N	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnst	T	A	1: 179,429,301 (GRCm39)		probably benign	Het
Cog2	G	T	8: 125,259,268 (GRCm39)	V196L	probably benign	Het
Col11a1	A	G	3: 113,987,833 (GRCm39)		probably null	Het
Cops6	T	A	5: 138,161,762 (GRCm39)		probably null	Het
Cspg4	A	G	9: 56,797,484 (GRCm39)	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,759,683 (GRCm39)	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,176,000 (GRCm39)	V300M	probably benign	Het
Dcp1b	C	A	6: 119,152,328 (GRCm39)	D25E	probably damaging	Het
Dhx58	T	C	11: 100,589,034 (GRCm39)	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899 (GRCm39)	W2129*	probably null	Het
Egr4	A	T	6: 85,489,442 (GRCm39)	L206Q	probably damaging	Het
Eif4g3	A	G	4: 137,830,709 (GRCm39)		probably null	Het
Fbxo46	A	G	7: 18,870,541 (GRCm39)	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,844,470 (GRCm39)	M224L	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gxylt2	A	G	6: 100,682,075 (GRCm39)	K91E	probably benign	Het
Hecw1	A	T	13: 14,497,174 (GRCm39)	V278E	probably damaging	Het
Hydin	A	G	8: 111,266,474 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,875,641 (GRCm39)	L776P	probably damaging	Het
Kcnh2	T	A	5: 24,537,039 (GRCm39)	T182S	probably benign	Het
Kplce	T	C	3: 92,776,005 (GRCm39)	E226G	probably damaging	Het
Lats2	T	G	14: 57,928,810 (GRCm39)	S1022R	probably benign	Het
Lef1	C	T	3: 130,988,308 (GRCm39)	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,513,471 (GRCm39)	I79L	possibly damaging	Het
Macroh2a2	G	A	10: 61,587,466 (GRCm39)	T156M	possibly damaging	Het
Man2b2	T	G	5: 36,971,862 (GRCm39)	Q618P	probably benign	Het
Mei1	T	C	15: 81,976,957 (GRCm39)	V180A	possibly damaging	Het
Mmp15	A	T	8: 96,093,032 (GRCm39)	N137I	probably damaging	Het
Mms22l	A	G	4: 24,517,115 (GRCm39)	D222G	possibly damaging	Het
Mmut	T	A	17: 41,258,075 (GRCm39)	S414T	probably benign	Het
Myo18a	T	C	11: 77,744,176 (GRCm39)	M1846T	probably benign	Het
Neo1	A	T	9: 58,897,517 (GRCm39)	N146K	probably benign	Het
Nos3	A	G	5: 24,588,888 (GRCm39)	T1174A	probably benign	Het
Or10d4b	A	T	9: 39,534,430 (GRCm39)	T4S	probably benign	Het
Or10x1	T	C	1: 174,196,836 (GRCm39)	Y118H	probably damaging	Het
Or4c125	A	T	2: 89,169,806 (GRCm39)	I280N	probably damaging	Het
Or51f1	A	T	7: 102,505,686 (GRCm39)	S268T	probably damaging	Het
Pax8	A	T	2: 24,332,922 (GRCm39)		probably benign	Het
Pde5a	G	A	3: 122,611,658 (GRCm39)	C532Y	probably damaging	Het
Pigq	T	C	17: 26,150,446 (GRCm39)	D442G	possibly damaging	Het
Pik3c2g	T	C	6: 139,665,808 (GRCm39)	V43A	probably benign	Het
Pik3cb	T	C	9: 98,970,716 (GRCm39)	N325S	probably benign	Het
Pot1b	T	C	17: 56,007,063 (GRCm39)	K18R	probably benign	Het
Ppp1r42	A	T	1: 10,069,630 (GRCm39)	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455 (GRCm39)	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,728,898 (GRCm39)	K167N	probably benign	Het
Rnf123	T	C	9: 107,947,930 (GRCm39)	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,634,411 (GRCm39)	D204G	probably damaging	Het
Rpf2	G	A	10: 40,109,181 (GRCm39)	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,317,339 (GRCm39)	N742D	probably benign	Het
Shank1	G	A	7: 44,002,075 (GRCm39)	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,465,933 (GRCm39)	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,199,758 (GRCm39)	V2M	probably benign	Het
Slc24a3	T	C	2: 145,455,494 (GRCm39)	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,345,623 (GRCm39)		probably null	Het
Snx30	T	A	4: 59,879,329 (GRCm39)	D189E	probably benign	Het
Sspo	A	G	6: 48,472,194 (GRCm39)	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,817,806 (GRCm39)	R264I	probably damaging	Het
Tsc22d4	T	A	5: 137,757,036 (GRCm39)		probably benign	Het
Ubn1	T	C	16: 4,892,233 (GRCm39)	L585P	possibly damaging	Het
Usp24	A	T	4: 106,265,210 (GRCm39)	D1781V	probably damaging	Het
Utp20	A	T	10: 88,608,777 (GRCm39)	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,149,995 (GRCm39)	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,595,862 (GRCm39)	V274A	probably benign	Het
Wdr17	A	G	8: 55,092,524 (GRCm39)	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,417,283 (GRCm39)	R156L	probably damaging	Het
Zan	T	C	5: 137,433,896 (GRCm39)	D2279G	unknown	Het
Zan	T	C	5: 137,462,336 (GRCm39)	T948A	unknown	Het
Zfp758	T	C	17: 22,591,049 (GRCm39)	S4P	probably damaging	Het
Zfp839	A	G	12: 110,822,020 (GRCm39)	E278G	probably benign	Het
Zfp994	T	A	17: 22,419,506 (GRCm39)	H481L	probably damaging	Het
Zswim9	G	A	7: 12,994,909 (GRCm39)	R416C	probably damaging	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
R1439:Ddx10	UTSW	9	53,151,787 (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
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'- AGATGTTTGTTCTCCAGACCC -3'
(R):5'- CCTTAGCTTAGCCAGTGTCC -3'

Sequencing Primer
(F):5'- CAGACCCCATTTTCAGAAATGTTAC -3'
(R):5'- CTGCTTTAGGATTCTAAGCAGTACAC -3'

Posted On

2016-08-04