Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Ddx24'

370784

Institutional Source

Beutler Lab

Gene Symbol

Ddx24

Ensembl Gene

ENSMUSG00000041645

Gene Name

DEAD box helicase 24

Synonyms

2510027P10Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24, 1700055J08Rik

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103374241-103392089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103385720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 248 (F248L)

Ref Sequence

ENSEMBL: ENSMUSP00000040890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044923] [ENSMUST00000110001] [ENSMUST00000220975] [ENSMUST00000221211] [ENSMUST00000223233]

AlphaFold

Q9ESV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044923
AA Change: F248L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: F248L

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 damaging
Transcript: ENSMUST00000110001
AA Change: F294L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: F294L

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

noncoding transcript
Transcript: ENSMUST00000220705

Predicted Effect

probably benign
Transcript: ENSMUST00000220975

Predicted Effect

probably damaging
Transcript: ENSMUST00000221211
AA Change: F248L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221358

Predicted Effect

probably benign
Transcript: ENSMUST00000222782

Predicted Effect

probably benign
Transcript: ENSMUST00000223233

Meta Mutation Damage Score

0.8035

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kcnn1	T	A	8: 71,300,822 (GRCm39)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mccc1	T	C	3: 36,039,195 (GRCm39)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Msr1	T	C	8: 40,095,668 (GRCm39)		probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or5d47	T	A	2: 87,804,095 (GRCm39)	I305L	probably benign	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Saxo5	A	G	8: 3,529,004 (GRCm39)	K193R	possibly damaging	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,925,092 (GRCm39)	Y143*	probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het
Zfp820	A	T	17: 22,042,853 (GRCm39)	M1K	probably null	Het

Other mutations in Ddx24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:Ddx24	APN	12	103,384,461 (GRCm39)	missense	probably damaging	0.97
IGL02102:Ddx24	APN	12	103,374,743 (GRCm39)	intron	probably benign
IGL02225:Ddx24	APN	12	103,383,630 (GRCm39)	missense	probably damaging	1.00
IGL02226:Ddx24	APN	12	103,390,717 (GRCm39)	missense	possibly damaging	0.81
IGL02325:Ddx24	APN	12	103,382,525 (GRCm39)	missense	probably damaging	1.00
IGL02568:Ddx24	APN	12	103,383,571 (GRCm39)	missense	probably damaging	1.00
IGL02666:Ddx24	APN	12	103,390,314 (GRCm39)	missense	possibly damaging	0.94
IGL02950:Ddx24	APN	12	103,383,801 (GRCm39)	missense	probably damaging	1.00
IGL03244:Ddx24	APN	12	103,383,864 (GRCm39)	missense	possibly damaging	0.53
P0028:Ddx24	UTSW	12	103,374,634 (GRCm39)	missense	probably benign
R0195:Ddx24	UTSW	12	103,385,220 (GRCm39)	critical splice donor site	probably null
R0540:Ddx24	UTSW	12	103,385,326 (GRCm39)	missense	possibly damaging	0.92
R0607:Ddx24	UTSW	12	103,385,326 (GRCm39)	missense	possibly damaging	0.92
R0621:Ddx24	UTSW	12	103,391,817 (GRCm39)	intron	probably benign
R0964:Ddx24	UTSW	12	103,390,166 (GRCm39)	missense	probably damaging	1.00
R1447:Ddx24	UTSW	12	103,390,566 (GRCm39)	missense	possibly damaging	0.88
R1639:Ddx24	UTSW	12	103,377,578 (GRCm39)	critical splice acceptor site	probably null
R1909:Ddx24	UTSW	12	103,376,241 (GRCm39)	missense	probably damaging	0.99
R2418:Ddx24	UTSW	12	103,383,996 (GRCm39)	missense	probably damaging	1.00
R3706:Ddx24	UTSW	12	103,383,675 (GRCm39)	missense	probably damaging	1.00
R3725:Ddx24	UTSW	12	103,383,864 (GRCm39)	missense	probably benign	0.19
R4436:Ddx24	UTSW	12	103,390,233 (GRCm39)	missense	probably damaging	1.00
R5568:Ddx24	UTSW	12	103,390,547 (GRCm39)	missense	possibly damaging	0.46
R5629:Ddx24	UTSW	12	103,391,806 (GRCm39)	intron	probably benign
R5763:Ddx24	UTSW	12	103,383,673 (GRCm39)	missense	probably damaging	1.00
R5891:Ddx24	UTSW	12	103,390,317 (GRCm39)	missense	probably damaging	1.00
R6059:Ddx24	UTSW	12	103,374,559 (GRCm39)	missense	probably damaging	1.00
R6310:Ddx24	UTSW	12	103,390,166 (GRCm39)	missense	probably damaging	1.00
R6311:Ddx24	UTSW	12	103,390,166 (GRCm39)	missense	probably damaging	1.00
R6408:Ddx24	UTSW	12	103,391,819 (GRCm39)	intron	probably benign
R6648:Ddx24	UTSW	12	103,374,634 (GRCm39)	missense	probably benign	0.02
R7151:Ddx24	UTSW	12	103,390,347 (GRCm39)	missense	probably benign	0.00
R7299:Ddx24	UTSW	12	103,385,709 (GRCm39)	missense	possibly damaging	0.95
R7301:Ddx24	UTSW	12	103,385,709 (GRCm39)	missense	possibly damaging	0.95
R7324:Ddx24	UTSW	12	103,382,518 (GRCm39)	missense	probably damaging	1.00
R7513:Ddx24	UTSW	12	103,385,365 (GRCm39)	nonsense	probably null
R7602:Ddx24	UTSW	12	103,382,519 (GRCm39)	nonsense	probably null
R7734:Ddx24	UTSW	12	103,383,819 (GRCm39)	missense	possibly damaging	0.49
R8076:Ddx24	UTSW	12	103,382,477 (GRCm39)	missense	probably damaging	1.00
R8466:Ddx24	UTSW	12	103,376,160 (GRCm39)	missense	probably benign	0.01
R8914:Ddx24	UTSW	12	103,390,665 (GRCm39)	missense	possibly damaging	0.86
R9484:Ddx24	UTSW	12	103,377,555 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGTGCTTCAGTCTCAATTC -3'
(R):5'- ATAGTACCAGCACACTGCCTTTC -3'

Sequencing Primer
(F):5'- CAATTCTGGCCTCCTCAGG -3'
(R):5'- TTCCTTGATAGCCAGGTGC -3'

Posted On

2016-02-04