Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Ddx24'

716474

Institutional Source

Beutler Lab

Gene Symbol

Ddx24

Ensembl Gene

ENSMUSG00000041645

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 24

Synonyms

2510027P10Rik, 1700055J08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9484 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103407982-103425830 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103411296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 717 (Y717N)

Ref Sequence

ENSEMBL: ENSMUSP00000105628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021620] [ENSMUST00000044923] [ENSMUST00000056140] [ENSMUST00000101094] [ENSMUST00000110001] [ENSMUST00000179684] [ENSMUST00000221211]

AlphaFold

Q9ESV0

Predicted Effect

probably benign
Transcript: ENSMUST00000021620

SMART Domains

Protein: ENSMUSP00000021620
Gene: ENSMUSG00000021203

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C65	1	230	2.9e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000044923
AA Change: Y671N

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

SMART Domains

Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: Y671N

Domain	Start	End	E-Value	Type
low complexity region	94	101	N/A	INTRINSIC
low complexity region	105	114	N/A	INTRINSIC
low complexity region	154	162	N/A	INTRINSIC
low complexity region	168	180	N/A	INTRINSIC
DEXDc	212	541	1.14e-39	SMART
HELICc	601	682	5.22e-25	SMART
low complexity region	752	766	N/A	INTRINSIC
low complexity region	775	787	N/A	INTRINSIC
low complexity region	835	852	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000056140

Predicted Effect

probably benign
Transcript: ENSMUST00000101094

SMART Domains

Protein: ENSMUSP00000098655
Gene: ENSMUSG00000021203

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C65	90	319	4.4e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110001
AA Change: Y717N

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

SMART Domains

Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: Y717N

Domain	Start	End	E-Value	Type
low complexity region	140	147	N/A	INTRINSIC
low complexity region	151	160	N/A	INTRINSIC
low complexity region	200	208	N/A	INTRINSIC
low complexity region	214	226	N/A	INTRINSIC
DEXDc	258	587	1.14e-39	SMART
HELICc	647	728	5.22e-25	SMART
low complexity region	798	812	N/A	INTRINSIC
low complexity region	821	833	N/A	INTRINSIC
low complexity region	881	898	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179684

SMART Domains

Protein: ENSMUSP00000137162
Gene: ENSMUSG00000021203

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C65	90	319	1.8e-78	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000221211
AA Change: Y671N

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

Predicted Effect

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

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, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout is embryonic lethal: embryos die between implantation and placentation. Heterozygous KO animals are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,112,786	C151S	probably damaging	Het
Actr8	T	C	14: 29,986,344	I193T	probably benign	Het
Btbd2	T	C	10: 80,644,269	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,356,833	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,647	Y214C	probably benign	Het
Calu	T	A	6: 29,366,163	L180Q	probably damaging	Het
Corin	C	T	5: 72,339,937	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,915,917	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,381,712	A96S	unknown	Het
Dmap1	G	T	4: 117,676,111	Q249K	probably benign	Het
Dnah10	T	A	5: 124,823,444	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,690,208	F2036L	probably benign	Het
Dnah14	T	C	1: 181,797,746	I4064T	probably benign	Het
Dock9	A	C	14: 121,581,432	V1546G	probably damaging	Het
Eif3a	A	T	19: 60,766,568	S1059T	unknown	Het
Ep300	A	G	15: 81,636,825	E1262G	unknown	Het
Evl	T	A	12: 108,686,457	I387N	probably damaging	Het
Fat2	A	C	11: 55,309,926	V774G	probably damaging	Het
Fez1	T	A	9: 36,843,797	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,423,134	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004	D1911G	probably benign	Het
Fnbp1	T	C	2: 31,083,026	Y154C	probably benign	Het
Fndc10	T	C	4: 155,695,039	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,604,215	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352	H64R	possibly damaging	Het
Glis3	T	C	19: 28,531,003	D527G	probably damaging	Het
Gm2022	A	T	12: 87,895,479	Q37L	possibly damaging	Het
H2-Ob	T	A	17: 34,241,015	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,843,032	E27K	probably benign	Het
Ifnb1	T	A	4: 88,522,678	T33S	probably benign	Het
Igkv4-80	T	A	6: 69,016,782	T42S	probably damaging	Het
Irs2	C	T	8: 11,007,334	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 189,256,694		probably null	Het
Krtap5-3	T	A	7: 142,202,331	C302S	unknown	Het
Lgi1	A	G	19: 38,306,309	K510E	probably benign	Het
Lgi2	T	A	5: 52,538,594	D341V	probably benign	Het
Lin7c	T	C	2: 109,894,468	I14T	probably benign	Het
Lrrc19	A	T	4: 94,643,336	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012	I315M	probably benign	Het
Myo5c	A	T	9: 75,297,488	D1541V	probably damaging	Het
Mypn	T	G	10: 63,167,240	M373L	probably benign	Het
Nckipsd	C	A	9: 108,812,638	H333N	probably damaging	Het
Nrg2	A	T	18: 36,024,348	L428Q	probably null	Het
Olfr1367	C	A	13: 21,347,417	T163K	probably damaging	Het
Olfr235	T	C	19: 12,268,371	I47T	possibly damaging	Het
Olfr53	T	C	7: 140,651,991	L4S	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otogl	C	T	10: 107,901,295	G86D	probably damaging	Het
Papln	A	T	12: 83,791,844	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,644,894	G379C	probably damaging	Het
Pofut2	T	C	10: 77,259,426	I35T	probably benign	Het
Pros1	A	G	16: 62,924,524	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,735,809	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,517,617	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,403,407	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,180,549	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,988,947	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,461,786	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,336,234	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,908,946	V660I	probably benign	Het
Smyd1	A	G	6: 71,225,466	Y252H	probably damaging	Het
Soga3	G	A	10: 29,196,973	D754N	probably damaging	Het
Spp2	A	T	1: 88,406,973		probably benign	Het
Stra8	T	A	6: 34,934,186	W250R	probably damaging	Het
Syne1	A	C	10: 5,220,359	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,046,250	S1203P	probably damaging	Het
Th	C	A	7: 142,899,883	E27*	probably null	Het
Thada	C	A	17: 84,429,191	L887F	probably damaging	Het
Timm23	T	C	14: 32,180,629	T186A	probably benign	Het
Tmem132b	A	T	5: 125,783,356	E555V	probably damaging	Het
Tnik	A	T	3: 28,594,944	Q457L	unknown	Het
Uba7	C	A	9: 107,983,838	H942Q	probably benign	Het
Upf2	T	C	2: 5,961,267	S233P	unknown	Het
Urm1	T	A	2: 29,842,748	N72K	probably damaging	Het
Usp10	T	C	8: 119,948,765	S508P	possibly damaging	Het
Usp37	G	A	1: 74,459,922	P632S	probably damaging	Het
Wdr77	T	A	3: 105,965,088	N209K	probably benign	Het
Zbtb24	C	T	10: 41,451,433	T105M	probably benign	Het
Zfp341	T	A	2: 154,643,843	I671N	probably damaging	Het
Zfp414	A	G	17: 33,630,010	T73A	probably benign	Het
Zfp574	A	T	7: 25,081,979	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,217,281	I733T	probably damaging	Het
Zfp719	A	G	7: 43,590,157	I390V	possibly damaging	Het

Other mutations in Ddx24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:Ddx24	APN	12	103418202	missense	probably damaging	0.97
IGL02102:Ddx24	APN	12	103408484	intron	probably benign
IGL02225:Ddx24	APN	12	103417371	missense	probably damaging	1.00
IGL02226:Ddx24	APN	12	103424458	missense	possibly damaging	0.81
IGL02325:Ddx24	APN	12	103416266	missense	probably damaging	1.00
IGL02568:Ddx24	APN	12	103417312	missense	probably damaging	1.00
IGL02666:Ddx24	APN	12	103424055	missense	possibly damaging	0.94
IGL02950:Ddx24	APN	12	103417542	missense	probably damaging	1.00
IGL03244:Ddx24	APN	12	103417605	missense	possibly damaging	0.53
P0028:Ddx24	UTSW	12	103408375	missense	probably benign
R0195:Ddx24	UTSW	12	103418961	critical splice donor site	probably null
R0540:Ddx24	UTSW	12	103419067	missense	possibly damaging	0.92
R0607:Ddx24	UTSW	12	103419067	missense	possibly damaging	0.92
R0621:Ddx24	UTSW	12	103425558	intron	probably benign
R0964:Ddx24	UTSW	12	103423907	missense	probably damaging	1.00
R1447:Ddx24	UTSW	12	103424307	missense	possibly damaging	0.88
R1639:Ddx24	UTSW	12	103411319	critical splice acceptor site	probably null
R1909:Ddx24	UTSW	12	103409982	missense	probably damaging	0.99
R2418:Ddx24	UTSW	12	103417737	missense	probably damaging	1.00
R3706:Ddx24	UTSW	12	103417416	missense	probably damaging	1.00
R3725:Ddx24	UTSW	12	103417605	missense	probably benign	0.19
R4436:Ddx24	UTSW	12	103423974	missense	probably damaging	1.00
R4807:Ddx24	UTSW	12	103419461	missense	probably damaging	1.00
R5568:Ddx24	UTSW	12	103424288	missense	possibly damaging	0.46
R5629:Ddx24	UTSW	12	103425547	intron	probably benign
R5763:Ddx24	UTSW	12	103417414	missense	probably damaging	1.00
R5891:Ddx24	UTSW	12	103424058	missense	probably damaging	1.00
R6059:Ddx24	UTSW	12	103408300	missense	probably damaging	1.00
R6310:Ddx24	UTSW	12	103423907	missense	probably damaging	1.00
R6311:Ddx24	UTSW	12	103423907	missense	probably damaging	1.00
R6408:Ddx24	UTSW	12	103425560	intron	probably benign
R6648:Ddx24	UTSW	12	103408375	missense	probably benign	0.02
R7151:Ddx24	UTSW	12	103424088	missense	probably benign	0.00
R7299:Ddx24	UTSW	12	103419450	missense	possibly damaging	0.95
R7301:Ddx24	UTSW	12	103419450	missense	possibly damaging	0.95
R7324:Ddx24	UTSW	12	103416259	missense	probably damaging	1.00
R7513:Ddx24	UTSW	12	103419106	nonsense	probably null
R7602:Ddx24	UTSW	12	103416260	nonsense	probably null
R7734:Ddx24	UTSW	12	103417560	missense	possibly damaging	0.49
R8076:Ddx24	UTSW	12	103416218	missense	probably damaging	1.00
R8466:Ddx24	UTSW	12	103409901	missense	probably benign	0.01
R8914:Ddx24	UTSW	12	103424406	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GGTCTCAGAGTAAGGTGCTC -3'
(R):5'- AGGGGCAGTCTATGTGTCAG -3'

Sequencing Primer
(F):5'- CAGTGCAGTGGAGTTTAACTTTTACC -3'
(R):5'- GTCAGAATGAAGGGCTAAGTTTTTCC -3'

Posted On

2022-07-18