Mutagenetix > Incidental Mutation

Incidental Mutation 'R1501:Ddx10'

169277

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

040867-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53009935-53159353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53145297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 227 (I227V)

Ref Sequence

ENSEMBL: ENSMUSP00000065198 (fasta)

Gene Model

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

AlphaFold

Q80Y44

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065630
AA Change: I227V

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065198
Gene: ENSMUSG00000053289
AA Change: I227V

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

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,750,787 (GRCm39)	S533R	probably benign	Het
Amph	C	T	13: 19,288,461 (GRCm39)	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279 (GRCm39)	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,703,137 (GRCm39)	C845R	probably damaging	Het
Calml4	A	G	9: 62,778,622 (GRCm39)	K12E	probably benign	Het
Chrd	C	T	16: 20,556,283 (GRCm39)	R615W	probably damaging	Het
Chst15	T	A	7: 131,870,798 (GRCm39)	K246*	probably null	Het
Cmtr2	G	A	8: 110,948,235 (GRCm39)	D182N	probably benign	Het
Cyp2d9	C	A	15: 82,338,525 (GRCm39)	C186*	probably null	Het
Cyp3a13	G	T	5: 137,909,892 (GRCm39)		probably null	Het
Dcaf17	A	T	2: 70,912,332 (GRCm39)	I320F	probably damaging	Het
Dlc1	G	T	8: 37,405,302 (GRCm39)	N162K	probably benign	Het
Dnhd1	G	A	7: 105,317,670 (GRCm39)	R455H	probably benign	Het
Drg2	G	T	11: 60,355,679 (GRCm39)	A306S	probably benign	Het
Dsg1a	A	T	18: 20,465,076 (GRCm39)	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,766,452 (GRCm39)	V353A	probably damaging	Het
Emilin2	T	C	17: 71,617,756 (GRCm39)	S34G	probably benign	Het
Enpp2	C	A	15: 54,702,910 (GRCm39)	W862L	probably damaging	Het
Exoc2	T	C	13: 31,119,485 (GRCm39)	I139V	probably benign	Het
Fhad1	C	T	4: 141,691,936 (GRCm39)	R400H	probably benign	Het
Fv1	C	T	4: 147,954,595 (GRCm39)	T387M	probably damaging	Het
Gatad1	T	A	5: 3,693,701 (GRCm39)	D156V	probably damaging	Het
Gm4744	A	G	6: 40,927,367 (GRCm39)		probably benign	Het
Gm4799	G	A	10: 82,790,469 (GRCm39)		noncoding transcript	Het
Hadha	A	G	5: 30,333,804 (GRCm39)	F405S	probably benign	Het
Ifit3	T	C	19: 34,565,651 (GRCm39)	V399A	probably benign	Het
Il1rapl1	G	T	X: 86,348,469 (GRCm39)	Y150*	probably null	Het
Kirrel1	T	C	3: 86,997,779 (GRCm39)	E248G	probably benign	Het
Krt72	C	A	15: 101,686,769 (GRCm39)	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,444,528 (GRCm39)	G309D	probably damaging	Het
Mc3r	T	G	2: 172,091,300 (GRCm39)	I174S	probably benign	Het
Me3	A	G	7: 89,282,273 (GRCm39)	D52G	probably benign	Het
Med12l	T	C	3: 59,168,256 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,325,378 (GRCm39)		probably null	Het
Mphosph10	A	T	7: 64,039,252 (GRCm39)	F239L	probably damaging	Het
Mrps7	T	C	11: 115,495,023 (GRCm39)	S13P	probably benign	Het
Nexn	T	C	3: 151,943,323 (GRCm39)	T527A	possibly damaging	Het
Nlrp1b	G	A	11: 71,046,885 (GRCm39)	H1156Y	probably damaging	Het
Nostrin	A	G	2: 68,989,129 (GRCm39)	E120G	probably damaging	Het
Nsun2	A	G	13: 69,779,706 (GRCm39)	E624G	probably damaging	Het
Oga	T	C	19: 45,767,079 (GRCm39)	D99G	probably null	Het
Or4c102	G	A	2: 88,422,492 (GRCm39)	V115I	possibly damaging	Het
Or4k2	A	G	14: 50,424,539 (GRCm39)	I45T	probably damaging	Het
Or52n4b	G	A	7: 108,143,782 (GRCm39)	V15I	probably benign	Het
Or5p70	A	C	7: 107,995,289 (GRCm39)	K321Q	probably benign	Het
Phldb2	T	C	16: 45,598,146 (GRCm39)	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,789,796 (GRCm39)		probably null	Het
Pikfyve	T	A	1: 65,304,443 (GRCm39)	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,803,087 (GRCm39)	F393L	probably benign	Het
Plekhg1	C	A	10: 3,907,361 (GRCm39)	D759E	probably benign	Het
Plekhm1	A	G	11: 103,277,888 (GRCm39)	S403P	probably benign	Het
Pop1	T	C	15: 34,510,503 (GRCm39)	F432L	probably benign	Het
Ptpn13	T	C	5: 103,664,230 (GRCm39)	I406T	probably benign	Het
Ptpn5	G	T	7: 46,739,623 (GRCm39)	D185E	probably benign	Het
Rad50	G	T	11: 53,578,978 (GRCm39)	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,530,507 (GRCm39)	F613L	probably benign	Het
Sec16a	T	A	2: 26,330,057 (GRCm39)	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,712,920 (GRCm39)		probably null	Het
Slc22a3	G	A	17: 12,725,991 (GRCm39)	T74I	probably benign	Het
Slc23a4	A	G	6: 34,932,057 (GRCm39)	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,857,536 (GRCm39)	D869G	possibly damaging	Het
Slc5a11	T	A	7: 122,859,731 (GRCm39)	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,832,167 (GRCm39)	A470S	probably benign	Het
Slfn8	A	G	11: 82,894,006 (GRCm39)	S878P	probably damaging	Het
Smchd1	A	G	17: 71,672,089 (GRCm39)	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,220,437 (GRCm39)	L179P	probably damaging	Het
Tbx2	A	G	11: 85,725,622 (GRCm39)	D191G	probably damaging	Het
Tenm3	A	G	8: 48,796,351 (GRCm39)	Y485H	probably damaging	Het
Trim12c	T	A	7: 103,990,095 (GRCm39)		probably benign	Het
Trpc6	A	G	9: 8,610,170 (GRCm39)	T213A	probably damaging	Het
Upp1	T	A	11: 9,084,708 (GRCm39)		probably null	Het
Vmn1r46	A	T	6: 89,953,198 (GRCm39)	I16L	probably benign	Het
Vmn2r75	A	T	7: 85,814,850 (GRCm39)	D214E	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,118 (GRCm39)	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,582,521 (GRCm39)	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399 (GRCm39)	K232N	possibly damaging	Het
Zfp280b	T	C	10: 75,875,603 (GRCm39)	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,066,143 (GRCm39)	D38G	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
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'- CCACTGCCAACAACGTTTGACTTTG -3'
(R):5'- GTTGAGCTGCTACTGAACTGTACCC -3'

Sequencing Primer
(F):5'- CAAAAGATGTTTGTTCTCCAGACCC -3'
(R):5'- GAACTGTACCCTTAGCTTAGCCAG -3'

Posted On

2014-04-13