Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Ddx10'

682401

Institutional Source

Beutler Lab

Gene Symbol

Ddx10

Ensembl Gene

ENSMUSG00000053289

Gene Name

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

Synonyms

4632415A01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53098635-53248053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53238077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 117 (S117P)

Ref Sequence

ENSEMBL: ENSMUSP00000065198 (fasta)

Gene Model

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

AlphaFold

Q80Y44

Predicted Effect

probably damaging
Transcript: ENSMUST00000065630
AA Change: S117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065198
Gene: ENSMUSG00000053289
AA Change: S117P

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,308,875	M120L	probably benign	Het
6430573F11Rik	A	G	8: 36,505,575	K60E	probably damaging	Het
Abat	A	G	16: 8,578,302	T48A	probably damaging	Het
Abca8a	A	T	11: 110,078,808	I314N	probably damaging	Het
Abr	A	T	11: 76,461,329	V108D	probably damaging	Het
Adamts17	T	G	7: 67,075,309	L162V	probably damaging	Het
Adamts6	A	T	13: 104,297,391	K109N	probably damaging	Het
Ago3	A	G	4: 126,347,802	F68S	probably damaging	Het
Aifm3	T	C	16: 17,506,336		probably null	Het
Ankrd26	T	C	6: 118,535,143	E506G	probably benign	Het
Apaf1	A	G	10: 91,067,204	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,520,062	T1272K	probably benign	Het
Cars2	A	G	8: 11,537,304	V193A	probably benign	Het
Ccr8	A	T	9: 120,094,547	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,631,619	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,259,272	N127S	probably benign	Het
Dgkb	T	C	12: 38,139,495		probably null	Het
Dnah11	T	A	12: 117,952,538	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,954,895	D1530N	probably damaging	Het
Dock5	T	C	14: 67,757,191	T1807A	probably benign	Het
Drd3	C	T	16: 43,821,479	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,409,259	N941S	probably damaging	Het
Enpp3	T	C	10: 24,820,615	T141A	probably benign	Het
Esyt1	A	T	10: 128,520,697	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,606,257	V143D	probably damaging	Het
Fam170b	A	G	14: 32,835,379	D57G	probably benign	Het
Fam53c	T	C	18: 34,768,176	S49P	probably damaging	Het
Fbp1	G	A	13: 62,875,253	L77F	probably benign	Het
Gm10471	T	G	5: 26,085,747	E142A	probably benign	Het
Gm17093	A	G	14: 44,520,692	E110G		Het
Gm21976	G	T	13: 98,287,313		silent	Het
Golgb1	T	C	16: 36,913,616	I1075T	probably damaging	Het
Grip2	T	C	6: 91,777,410	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,717,728	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,366,584	F97Y	probably benign	Het
Itga8	T	C	2: 12,191,234	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,218,602	L466S	probably damaging	Het
Klc2	T	C	19: 5,111,836	D277G	probably benign	Het
Ktn1	A	G	14: 47,663,791	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,401,446	Y68N	probably damaging	Het
March10	G	T	11: 105,389,989	S490*	probably null	Het
Mterf1b	A	T	5: 4,196,437	Y26F	probably benign	Het
Myo18b	T	A	5: 112,858,480	I855F	probably benign	Het
Nek4	G	A	14: 30,953,958	M83I	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	T	C	5: 117,879,340	V256A	probably benign	Het
Nr1h2	T	C	7: 44,552,039	T50A	probably benign	Het
Olfr296-ps1	T	A	7: 86,562,109	*126K	probably null	Het
Olfr732	A	C	14: 50,281,359	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,305,914	R172G	probably damaging	Het
Parp14	A	G	16: 35,856,817	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,715,826	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,536,895	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,473,248	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,012,033	D746V	probably damaging	Het
Rnf214	A	C	9: 45,898,430		probably null	Het
Rtn4ip1	A	T	10: 43,946,419		probably null	Het
S1pr1	T	C	3: 115,711,920	R342G		Het
Serpina1f	T	C	12: 103,689,872	S366G	probably benign	Het
Sestd1	A	T	2: 77,212,364	M282K	probably benign	Het
Siglecf	T	G	7: 43,351,716	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,909,469	V410A	probably damaging	Het
Slc38a4	C	A	15: 97,019,803	D14Y	probably benign	Het
Slk	C	T	19: 47,622,309	T806M	probably damaging	Het
Slurp2	C	A	15: 74,743,400	V48F	possibly damaging	Het
Socs1	A	G	16: 10,784,778	S32P	possibly damaging	Het
Son	T	C	16: 91,658,169	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,366,445		probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tet2	T	C	3: 133,488,043	N210S	probably benign	Het
Tkfc	T	C	19: 10,593,336	D492G	probably damaging	Het
Tmc7	G	A	7: 118,561,005	P203L	probably benign	Het
Tshz2	C	A	2: 169,884,604	F373L	probably damaging	Het
Ttc29	T	A	8: 78,315,707	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,548,833	M1I	probably null	Het
Vmn1r62	T	A	7: 5,675,602	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,350,891	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,491,143	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,556,155	D419E	probably damaging	Het
Vps39	A	T	2: 120,344,206	Y98*	probably null	Het
Wisp2	C	T	2: 163,825,240	R54*	probably null	Het
Zdbf2	G	A	1: 63,308,003	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,298,807	E407G	probably benign	Het
Zfp407	A	G	18: 84,558,932	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,879,361	K619E	possibly damaging	Het
Zfp811	A	T	17: 32,798,648	N139K	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
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
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
R8782:Ddx10	UTSW	9	53235288	missense	probably damaging	0.99
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'- TTACTGAGTGCCTTCCATGGG -3'
(R):5'- GACATACAATCAAGCCTGTGGTG -3'

Sequencing Primer
(F):5'- TGGGCACAGCACTGTCATAC -3'
(R):5'- GTGTGGCATCATCCATTAAGAG -3'

Posted On

2021-08-31