Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01773:Ddx10'

153711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx10

Ensembl Gene

ENSMUSG00000053289

Gene Name

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

Synonyms

4632415A01Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL01773

Quality Score

Status

Chromosome

Chromosomal Location

53098635-53248053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53204130 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 635 (D635Y)

Ref Sequence

ENSEMBL: ENSMUSP00000065198 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065630
AA Change: D635Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065198
Gene: ENSMUSG00000053289
AA Change: D635Y

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

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1s	C	A	1: 136,118,753	H1775Q	probably benign	Het
Calcrl	A	G	2: 84,370,443	Y86H	probably benign	Het
Ccdc63	T	C	5: 122,113,145	K401E	possibly damaging	Het
Col9a1	A	G	1: 24,205,066	T127A	probably benign	Het
Cpq	T	A	15: 33,212,850	F5Y	probably benign	Het
Cuzd1	T	A	7: 131,314,885	M282L	probably damaging	Het
Ect2l	T	C	10: 18,161,504	D382G	probably damaging	Het
Ganc	T	C	2: 120,459,884	S901P	possibly damaging	Het
Gpr179	G	A	11: 97,341,366	R671C	probably benign	Het
Isl2	T	C	9: 55,544,220	L219P	probably damaging	Het
Mfsd13a	T	C	19: 46,369,294	S296P	possibly damaging	Het
Mtmr7	A	T	8: 40,581,419	L287Q	probably damaging	Het
Olfr1355	A	G	10: 78,879,936	T255A	possibly damaging	Het
Olfr607	T	G	7: 103,461,014	M60L	possibly damaging	Het
Olfr741	T	C	14: 50,485,773	F105S	probably damaging	Het
Olfr945	A	G	9: 39,258,534	I46T	probably damaging	Het
Pik3c3	T	A	18: 30,277,102	F130I	probably damaging	Het
Rab3gap1	T	A	1: 127,918,221	S277R	possibly damaging	Het
Rassf9	A	G	10: 102,545,633	K290R	probably benign	Het
Rnaseh2a	A	T	8: 84,965,138	V136D	probably damaging	Het
Rnf39	C	T	17: 36,945,436	S140L	possibly damaging	Het
Sbno2	A	G	10: 80,057,831	V1212A	probably damaging	Het
Slc4a10	A	T	2: 62,190,757	I50F	probably damaging	Het
Slfn5	A	T	11: 82,961,331	E761V	probably damaging	Het
Sptlc1	A	G	13: 53,377,298	Y18H	probably damaging	Het
Tfam	A	G	10: 71,236,975	M9T	possibly damaging	Het
Tmem186	A	G	16: 8,635,977	L140P	probably damaging	Het
Try4	A	T	6: 41,305,026	N182I	probably damaging	Het
Vmn1r209	C	T	13: 22,806,280	C80Y	probably damaging	Het
Vmn2r104	A	T	17: 20,040,668	S498T	probably benign	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
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
R2007:Ddx10	UTSW	9	53213278	missense	probably benign	0.06
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
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

Posted On

2014-02-04