Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:Ddx10'

222513

Institutional Source

Beutler Lab

Gene Symbol

Ddx10

Ensembl Gene

ENSMUSG00000053289

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 10

Synonyms

4632415A01Rik

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R2007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53098635-53248053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53213278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 428 (V428A)

Ref Sequence

ENSEMBL: ENSMUSP00000065198 (fasta)

Gene Model

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

AlphaFold

Q80Y44

Predicted Effect

probably benign
Transcript: ENSMUST00000065630
AA Change: V428A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000065198
Gene: ENSMUSG00000053289
AA Change: V428A

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

0.0814

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,542,892	N1387K	probably benign	Het
Abca13	T	C	11: 9,191,987	F8L	probably benign	Het
Abcg5	G	T	17: 84,669,920	L270M	probably damaging	Het
Acad10	A	G	5: 121,634,751	L489S	probably damaging	Het
Acsf2	G	A	11: 94,571,640	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,177,856	E282V	probably damaging	Het
Adcy4	C	T	14: 55,778,313	G440R	possibly damaging	Het
AI429214	G	A	8: 36,993,769	V24I	probably benign	Het
Angptl3	T	C	4: 99,037,397	I320T	probably damaging	Het
Apoa5	A	T	9: 46,270,367	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,609,305	V811G	probably damaging	Het
Bard1	C	T	1: 71,031,403	V641I	probably benign	Het
Calb2	T	C	8: 110,168,070	E23G	probably benign	Het
Cdkl4	A	G	17: 80,556,301		probably benign	Het
Cep85l	A	G	10: 53,278,075		probably benign	Het
Chd1	G	T	17: 15,731,006	G281V	probably damaging	Het
Col17a1	C	T	19: 47,667,702	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833	D66V	probably damaging	Het
Csde1	A	T	3: 103,044,791	I204L	probably damaging	Het
Dchs1	A	T	7: 105,755,325	V2670E	probably damaging	Het
Dgkh	T	A	14: 78,603,049	D530V	probably benign	Het
Dis3l	A	T	9: 64,308,276		probably null	Het
Dst	T	G	1: 34,226,012		probably benign	Het
Eml6	C	T	11: 29,848,814		probably null	Het
En1	A	T	1: 120,603,404	E124D	probably benign	Het
Exo1	G	A	1: 175,908,530	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,778,748		probably benign	Het
Foxp2	G	A	6: 15,396,819	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,697,166	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,212,618	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,500,831	I155T	unknown	Het
Hmcn2	A	G	2: 31,438,255	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,319,513		probably benign	Het
Hpx	G	A	7: 105,595,574	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,520,548	E151A	probably benign	Het
Krt6b	A	T	15: 101,678,127	L309H	probably damaging	Het
Lce1c	G	T	3: 92,680,458	C64F	unknown	Het
Maats1	T	C	16: 38,298,254	I728V	probably benign	Het
March6	C	T	15: 31,461,941		probably null	Het
Myt1	C	A	2: 181,795,759	R88S	probably benign	Het
Nemp1	A	G	10: 127,693,577	S194G	probably benign	Het
Nphp4	A	G	4: 152,554,654	K914R	probably damaging	Het
Olfr410	T	A	11: 74,334,386	T282S	possibly damaging	Het
Osbp	T	C	19: 11,973,901	M270T	probably benign	Het
Parg	T	C	14: 32,210,574	M457T	possibly damaging	Het
Phf20	T	C	2: 156,287,954	M482T	probably benign	Het
Pik3c2a	G	A	7: 116,342,237	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,579,785	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,967,255	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,320,236	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,993,540	T65S	probably benign	Het
Sipa1l2	G	A	8: 125,439,437	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,227,048	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,928,629	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,571,374	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,350,123	F301S	probably damaging	Het
Tmem233	A	C	5: 116,051,437	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,332,545	D193G	probably damaging	Het
Tprkb	T	C	6: 85,933,048		probably benign	Het
Tram1l1	A	G	3: 124,321,839	H216R	possibly damaging	Het
Ttn	A	G	2: 76,734,140	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,409,251	N25S	possibly damaging	Het
Unc80	C	A	1: 66,503,776	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,632,587	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,347,953	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,586,644	I995V	probably null	Het

Other mutations in Ddx10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Ddx10	APN	9	53160026	splice site	probably benign
IGL01111:Ddx10	APN	9	53159948	missense	possibly damaging	0.73
IGL01773:Ddx10	APN	9	53204130	missense	possibly damaging	0.94
IGL01837:Ddx10	APN	9	53229198	missense	probably benign	0.16
IGL02036:Ddx10	APN	9	53204183	missense	probably benign	0.00
IGL02236:Ddx10	APN	9	53235382	missense	probably damaging	1.00
IGL02939:Ddx10	APN	9	53204279	missense	possibly damaging	0.63
IGL03294:Ddx10	APN	9	53117152	critical splice donor site	probably null
R0279:Ddx10	UTSW	9	53235304	missense	probably damaging	1.00
R1439:Ddx10	UTSW	9	53240487	missense	probably damaging	1.00
R1501:Ddx10	UTSW	9	53233997	missense	possibly damaging	0.85
R1529:Ddx10	UTSW	9	53117199	nonsense	probably null
R1548:Ddx10	UTSW	9	53149561	critical splice acceptor site	probably null
R1717:Ddx10	UTSW	9	53159953	missense	probably benign	0.25
R1720:Ddx10	UTSW	9	53238071	missense	probably damaging	1.00
R1781:Ddx10	UTSW	9	53207545	missense	probably damaging	1.00
R2005:Ddx10	UTSW	9	53240475	critical splice donor site	probably null
R2073:Ddx10	UTSW	9	53240505	missense	probably benign	0.28
R2075:Ddx10	UTSW	9	53240505	missense	probably benign	0.28
R2133:Ddx10	UTSW	9	53149512	missense	probably benign	0.13
R4660:Ddx10	UTSW	9	53236398	critical splice donor site	probably null
R4668:Ddx10	UTSW	9	53099213	missense	possibly damaging	0.55
R4706:Ddx10	UTSW	9	53233931	missense	probably damaging	1.00
R4814:Ddx10	UTSW	9	53204105	missense	possibly damaging	0.54
R5394:Ddx10	UTSW	9	53233857	nonsense	probably null
R5655:Ddx10	UTSW	9	53209687	critical splice donor site	probably null
R5874:Ddx10	UTSW	9	53229198	missense	possibly damaging	0.95
R6341:Ddx10	UTSW	9	53204251	missense	probably benign	0.00
R6534:Ddx10	UTSW	9	53223688	missense	probably damaging	1.00
R6801:Ddx10	UTSW	9	53247907	nonsense	probably null
R6994:Ddx10	UTSW	9	53204111	missense	probably damaging	0.99
R7155:Ddx10	UTSW	9	53117288	missense	probably benign	0.00
R7380:Ddx10	UTSW	9	53240486	missense	probably damaging	1.00
R7753:Ddx10	UTSW	9	53225604	missense	probably damaging	1.00
R8101:Ddx10	UTSW	9	53225520	missense	probably damaging	0.98
R8782:Ddx10	UTSW	9	53235288	missense	probably damaging	0.99
R8962:Ddx10	UTSW	9	53238077	missense	probably damaging	1.00
R8998:Ddx10	UTSW	9	53229234	missense	possibly damaging	0.64
R8999:Ddx10	UTSW	9	53229234	missense	possibly damaging	0.64
R9283:Ddx10	UTSW	9	53235356	missense	probably benign	0.01
X0019:Ddx10	UTSW	9	53233996	missense	probably damaging	1.00
X0063:Ddx10	UTSW	9	53225573	missense	probably damaging	1.00
Z1177:Ddx10	UTSW	9	53204511	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCCTCTAAATCAGAAGCTAGATGG -3'
(R):5'- TGGAATTTGAAACAAGGCAGCC -3'

Sequencing Primer
(F):5'- GCTAGATGGCCAAATAGCTTAGG -3'
(R):5'- TTTGAAACAAGGCAGCCAGAAC -3'

Posted On

2014-08-25