Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Ddx24'

437050

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

043125-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103407982-103425830 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103424288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 59 (Q59L)

Ref Sequence

ENSEMBL: ENSMUSP00000152366 (fasta)

Gene Model

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

AlphaFold

Q9ESV0

Predicted Effect

probably benign
Transcript: ENSMUST00000044923
AA Change: Q102L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: Q102L

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: ENSMUST00000110001
AA Change: Q148L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: Q148L

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

possibly damaging
Transcript: ENSMUST00000220975
AA Change: Q59L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000221211
AA Change: Q102L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000223233

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,622,794	V207A	probably benign	Het
Abcc10	C	A	17: 46,303,908		probably null	Het
Abcc9	A	C	6: 142,689,016	V174G	possibly damaging	Het
Abl1	C	T	2: 31,779,074	A155V	probably damaging	Het
Aco2	T	A	15: 81,903,586	D212E	probably damaging	Het
Adam26b	A	T	8: 43,520,492	M491K	probably benign	Het
Anapc5	G	A	5: 122,791,925		probably benign	Het
Atf7	A	G	15: 102,563,322	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,607,600	S2100P	probably damaging	Het
Capn5	T	A	7: 98,125,930	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,709,091	M748V	probably damaging	Het
Cd300c2	T	C	11: 115,000,836	T71A	probably damaging	Het
Chmp2a	T	C	7: 13,033,831	M56V	probably benign	Het
Cilp	A	C	9: 65,280,233	R1203S	probably benign	Het
Clp1	T	A	2: 84,725,978	K53*	probably null	Het
Crhbp	T	A	13: 95,442,229	D128V	probably damaging	Het
Crispld1	T	A	1: 17,750,271	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,689,082	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,370,646	M149L	probably benign	Het
Ddx27	A	G	2: 167,029,519	H512R	possibly damaging	Het
Ddx58	T	A	4: 40,222,140	M380L	probably benign	Het
Dlgap4	T	A	2: 156,762,901	*993K	probably null	Het
Dmxl2	A	T	9: 54,423,359		probably null	Het
Dus4l	A	T	12: 31,646,713	F88L	probably damaging	Het
Ep400	A	T	5: 110,756,205	V176E	probably damaging	Het
Fam71e1	T	G	7: 44,501,004	S207A	probably damaging	Het
Fat3	T	A	9: 16,376,923	K435*	probably null	Het
Fsip2	T	C	2: 82,986,564	C4214R	probably benign	Het
Gfral	T	C	9: 76,164,805	*394W	probably null	Het
Glis1	T	C	4: 107,619,635	S518P	probably damaging	Het
H2-T10	A	G	17: 36,119,187		probably null	Het
Hsbp1l1	T	C	18: 80,235,464	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,702,217	F87S	probably damaging	Het
Ints13	A	C	6: 146,576,357	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,618,627	D74N	probably damaging	Het
Klrb1c	A	G	6: 128,788,914		probably benign	Het
Kmt5b	A	T	19: 3,786,538	H25L	probably benign	Het
Krt28	A	T	11: 99,371,384	M260K	probably damaging	Het
Krt79	A	G	15: 101,929,785	S512P	probably damaging	Het
Lama1	A	T	17: 67,768,298		probably null	Het
Maneal	T	C	4: 124,857,144	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,663,998	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,283,428	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,072,122		probably null	Het
Mrpl46	C	G	7: 78,780,494	W176S	probably damaging	Het
Muc19	A	G	15: 91,884,274		noncoding transcript	Het
Mup3	T	G	4: 62,084,572	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,874,628	H1699R	probably benign	Het
Ndrg2	T	A	14: 51,906,963	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,649,822	V688D	probably benign	Het
Ninj2	T	C	6: 120,198,709	I101T	probably benign	Het
Nlrp10	T	A	7: 108,924,261	M671L	probably benign	Het
Npsr1	T	A	9: 24,313,214	L296I	probably damaging	Het
Olfr582	G	T	7: 103,042,310	R272L	possibly damaging	Het
Olfr975	A	G	9: 39,950,687	L28P	probably benign	Het
Pacsin1	T	A	17: 27,708,048	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,197,367	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,020,390	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,491,800	S728T	probably benign	Het
Phyhd1	T	A	2: 30,277,010	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,370,593	I1035F	probably damaging	Het
Plcl1	T	C	1: 55,696,150	S217P	possibly damaging	Het
Plppr2	G	A	9: 21,941,129	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,157,435	T1722I	probably damaging	Het
Pole3	T	C	4: 62,524,431	N53S	probably damaging	Het
Ptk6	A	T	2: 181,199,695	N140K	possibly damaging	Het
Rab12	C	T	17: 66,497,423	R180H	probably damaging	Het
Rab36	G	T	10: 75,052,479	V252L	probably benign	Het
Ranbp3	T	C	17: 56,701,543		probably null	Het
Rapgef2	A	G	3: 79,104,001	L259P	probably damaging	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,229,857		probably benign	Het
Scd2	T	C	19: 44,299,703	F178S	probably damaging	Het
Shmt2	A	G	10: 127,520,381	S87P	probably damaging	Het
Slf1	T	A	13: 77,046,704	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,046,530	Y540*	probably null	Het
Srpk2	T	A	5: 23,525,699	Q274L	possibly damaging	Het
Stradb	T	A	1: 58,992,742	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,593	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,701,087	T63A	probably benign	Het
Ticrr	G	A	7: 79,689,967		probably null	Het
Ticrr	T	A	7: 79,695,296	C1636*	probably null	Het
Tln2	A	G	9: 67,311,865	I266T	probably damaging	Het
Tmcc1	G	C	6: 116,022,110	R323G	possibly damaging	Het
Tnnt3	A	G	7: 142,512,040	E138G	probably damaging	Het
Tpm2	C	A	4: 43,522,692	E75*	probably null	Het
Ttn	T	G	2: 76,750,578	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,392,038	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,039,088	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,473,281	S21A	unknown	Het
Usp17lb	C	T	7: 104,841,208	G170R	probably damaging	Het
Utp15	T	C	13: 98,257,925	N153S	probably benign	Het
Vcan	T	A	13: 89,688,671	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,754,494	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,931,135	V16I	probably benign	Het
Xdh	T	C	17: 73,943,885	D24G	possibly damaging	Het
Xylb	T	A	9: 119,361,132	H68Q	probably benign	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
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
R9484:Ddx24	UTSW	12	103411296	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCTGCCTTCTGGTCGTG -3'
(R):5'- CCTGGTGTGCTTTGAAGAGC -3'

Sequencing Primer
(F):5'- GTGCACCTCAGCCATCCATG -3'
(R):5'- GTGCTTTGAAGAGCTGACAGATTACC -3'

Posted On

2016-10-24