Mutagenetix > Incidental Mutation

Incidental Mutation 'R7301:Ddx24'

567001

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

045405-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103374241-103392089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103385709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 298 (M298T)

Ref Sequence

ENSEMBL: ENSMUSP00000105628 (fasta)

Gene Model

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

AlphaFold

Q9ESV0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044923
AA Change: M252T

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: M252T

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

possibly damaging
Transcript: ENSMUST00000110001
AA Change: M298T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: M298T

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: ENSMUST00000220975

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221211
AA Change: M252T

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000222782

Predicted Effect

probably benign
Transcript: ENSMUST00000223233

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,376,308 (GRCm39)	S345N	possibly damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Ankrd26	T	C	6: 118,488,624 (GRCm39)	E1345G	possibly damaging	Het
Atp1a3	T	A	7: 24,689,940 (GRCm39)	Y493F	probably benign	Het
Atxn2l	G	T	7: 126,093,383 (GRCm39)	Y791*	probably null	Het
Cacng8	C	A	7: 3,463,937 (GRCm39)	T363K	probably benign	Het
Camkmt	A	G	17: 85,738,921 (GRCm39)	T216A	probably benign	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cnppd1	A	G	1: 75,113,068 (GRCm39)	L400P	probably damaging	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Dpyd	T	C	3: 118,692,933 (GRCm39)	V359A	possibly damaging	Het
Dscam	T	C	16: 96,857,732 (GRCm39)	T93A	probably benign	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Entpd2	T	A	2: 25,290,921 (GRCm39)	I475N	possibly damaging	Het
Ercc2	C	A	7: 19,128,060 (GRCm39)	Q715K	probably benign	Het
Fam186b	T	C	15: 99,176,629 (GRCm39)	R754G	probably benign	Het
Fcgbp	T	A	7: 27,792,861 (GRCm39)	V955E	possibly damaging	Het
Frrs1	T	C	3: 116,689,212 (GRCm39)	V361A	possibly damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Greb1l	C	G	18: 10,544,970 (GRCm39)	Q1433E	probably damaging	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-58	A	T	12: 115,275,915 (GRCm39)	N74K	probably benign	Het
Il12rb1	A	G	8: 71,266,343 (GRCm39)	I229M	possibly damaging	Het
Il17rd	T	C	14: 26,798,348 (GRCm39)	I56T	possibly damaging	Het
Itpr1	T	C	6: 108,518,985 (GRCm39)	V2708A	possibly damaging	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Lmf2	C	A	15: 89,239,733 (GRCm39)		probably benign	Het
Lrrc3b	T	C	14: 15,357,934 (GRCm38)	Y224C	probably damaging	Het
Med1	A	C	11: 98,043,634 (GRCm39)	F599C	probably benign	Het
Mrgprb4	A	G	7: 47,848,506 (GRCm39)	S141P	probably damaging	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Myo3a	T	C	2: 22,436,504 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Nqo1	A	G	8: 108,119,280 (GRCm39)	I99T	probably damaging	Het
Or1j17	T	A	2: 36,578,023 (GRCm39)	M3K	probably benign	Het
Or6c2b	T	C	10: 128,947,568 (GRCm39)	H242R	probably damaging	Het
Pabir1	T	A	19: 24,454,488 (GRCm39)	H78L	probably benign	Het
Pabir1	T	A	19: 24,454,710 (GRCm39)	E4V	probably damaging	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Plpp7	T	G	2: 31,986,067 (GRCm39)	F82V	probably benign	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Rasl2-9	A	G	7: 5,128,739 (GRCm39)	W64R	probably damaging	Het
Rilp	G	T	11: 75,400,942 (GRCm39)		probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Slc27a4	C	T	2: 29,702,944 (GRCm39)	T591I	probably null	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Spata31f1e	T	C	4: 42,792,923 (GRCm39)	N403S	possibly damaging	Het
Sptbn1	A	T	11: 30,067,798 (GRCm39)	Y1805*	probably null	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Synpo2	A	C	3: 122,907,702 (GRCm39)	M538R	probably benign	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r127	A	G	7: 21,052,978 (GRCm39)	F270S	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	probably benign	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
R4807:Ddx24	UTSW	12	103,385,720 (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
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'- AGGCACTAGTCTCAGGTGTG -3'
(R):5'- GCCTTTCCTTGATAGCCAGG -3'

Sequencing Primer
(F):5'- CACTGGGCTGTGCTTCAGTC -3'
(R):5'- GCGCTGGAGGAACCTGTG -3'

Posted On

2019-06-26