Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Ddx24'

568763

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

045418-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103374241-103392089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103382518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 688 (L688F)

Ref Sequence

ENSEMBL: ENSMUSP00000105628 (fasta)

Gene Model

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

AlphaFold

Q9ESV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044923
AA Change: L642F

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

SMART Domains

Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: L642F

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: L688F

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

SMART Domains

Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: L688F

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 damaging
Transcript: ENSMUST00000221211
AA Change: L642F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222782
AA Change: L23F

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

Meta Mutation Damage Score

0.1832

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,983,667 (GRCm39)	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,141,923 (GRCm39)	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,136,151 (GRCm39)	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,222,032 (GRCm39)	T552K	possibly damaging	Het
Arhgap28	T	C	17: 68,202,879 (GRCm39)		probably null	Het
Arid5b	A	T	10: 67,964,752 (GRCm39)	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,707 (GRCm39)	K56N	probably benign	Het
C2	C	T	17: 35,100,664 (GRCm39)	G52D	probably benign	Het
Casz1	C	T	4: 149,031,490 (GRCm39)	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,797,552 (GRCm39)	D778G	unknown	Het
Cdh5	A	G	8: 104,869,425 (GRCm39)	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,514,372 (GRCm39)	A445V	probably damaging	Het
Clca3b	T	A	3: 144,547,181 (GRCm39)	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 54,052,090 (GRCm39)	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,287,961 (GRCm39)	T381P	probably damaging	Het
Ddb2	G	A	2: 91,067,229 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,747,975 (GRCm39)	L1615P	unknown	Het
Dnah8	T	A	17: 31,003,099 (GRCm39)	D3599E	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,800,555 (GRCm39)	D156G	probably benign	Het
Enpp2	A	G	15: 54,741,170 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,803 (GRCm39)	V490A	probably damaging	Het
Etnppl	A	G	3: 130,423,224 (GRCm39)	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,021,150 (GRCm39)		probably benign	Het
Fam162b	A	T	10: 51,466,282 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,353,362 (GRCm39)	E86G	probably damaging	Het
Flii	G	A	11: 60,609,866 (GRCm39)	T615I	probably benign	Het
Fndc7	G	T	3: 108,779,537 (GRCm39)	Q336K	probably benign	Het
Gm26661	T	C	14: 7,791,911 (GRCm38)	C109R	unknown	Het
H2-DMb1	T	C	17: 34,378,436 (GRCm39)		probably null	Het
H2-T10	C	T	17: 36,430,189 (GRCm39)	G251R	probably damaging	Het
Harbi1	T	C	2: 91,551,044 (GRCm39)	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,661,659 (GRCm39)	M119T	unknown	Het
Ighe	T	A	12: 113,235,954 (GRCm39)	Y124F		Het
Ighv7-1	T	C	12: 113,860,149 (GRCm39)	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,313,115 (GRCm39)		probably null	Het
Inpp5a	A	G	7: 139,105,586 (GRCm39)	D179G	probably damaging	Het
Itgad	A	T	7: 127,788,979 (GRCm39)	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,693,138 (GRCm39)	H238L	probably benign	Het
Kctd17	T	A	15: 78,319,842 (GRCm39)	C189S	probably damaging	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Llgl2	A	G	11: 115,741,556 (GRCm39)	E562G	possibly damaging	Het
Macf1	T	C	4: 123,268,218 (GRCm39)	T6734A	probably benign	Het
Maz	G	A	7: 126,623,765 (GRCm39)	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,921,917 (GRCm39)	G125*	probably null	Het
Mvp	A	G	7: 126,592,781 (GRCm39)	S377P	probably benign	Het
Nin	C	T	12: 70,090,508 (GRCm39)	R969Q		Het
Nktr	C	T	9: 121,556,427 (GRCm39)	T35I	probably damaging	Het
Nktr	T	A	9: 121,577,357 (GRCm39)	M475K	possibly damaging	Het
Nod2	T	A	8: 89,379,694 (GRCm39)	V65D	probably damaging	Het
Opa1	A	T	16: 29,405,799 (GRCm39)	E121D	probably benign	Het
Or10w3	C	T	19: 13,704,270 (GRCm39)	A215V	probably benign	Het
Or1r1	A	G	11: 73,874,669 (GRCm39)	V255A	probably benign	Het
Or2n1c	T	C	17: 38,519,607 (GRCm39)	V157A	probably benign	Het
Or4a76	A	T	2: 89,460,447 (GRCm39)	I265N	possibly damaging	Het
Or5ac21	T	C	16: 59,123,611 (GRCm39)	F32L	probably benign	Het
Or5b123	A	G	19: 13,596,942 (GRCm39)	I96V	probably benign	Het
Or6c88	T	A	10: 129,406,718 (GRCm39)	S65T	probably damaging	Het
Or7e174	A	T	9: 20,012,726 (GRCm39)	I224F	possibly damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,061,600 (GRCm39)	D38V	possibly damaging	Het
Prtg	C	T	9: 72,798,122 (GRCm39)	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,595,621 (GRCm39)	V748G	possibly damaging	Het
Reg2	A	T	6: 78,383,137 (GRCm39)	D28V	probably benign	Het
Rhpn1	A	T	15: 75,576,246 (GRCm39)	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,290,799 (GRCm39)	E294G	possibly damaging	Het
Scara3	T	A	14: 66,168,865 (GRCm39)	I251L	probably benign	Het
Slc23a2	G	A	2: 131,931,043 (GRCm39)	T152I	probably damaging	Het
Slc39a2	T	G	14: 52,131,650 (GRCm39)	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,758,907 (GRCm39)	Y937C	probably damaging	Het
Tpp2	T	C	1: 44,017,938 (GRCm39)	L779S	probably damaging	Het
Tssk2	T	C	16: 17,717,227 (GRCm39)	V210A	possibly damaging	Het
Ttn	T	A	2: 76,725,937 (GRCm39)	T6100S	unknown	Het
Tufm	G	A	7: 126,088,759 (GRCm39)	E317K	possibly damaging	Het
Vinac1	T	C	2: 128,879,772 (GRCm39)	D718G	unknown	Het
Wdfy4	A	G	14: 32,769,271 (GRCm39)	S2219P		Het
Wtap	T	C	17: 13,199,833 (GRCm39)	N50S	possibly damaging	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
R7301:Ddx24	UTSW	12	103,385,709 (GRCm39)	missense	possibly damaging	0.95
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'- ACGTTACAGACAACCTGAGGG -3'
(R):5'- TTCAGTTCATTCACAGCACAGAAC -3'

Sequencing Primer
(F):5'- CAGACAACCTGAGGGGGCAG -3'
(R):5'- GGGTCCTGATTCCACAATAGACTAG -3'

Posted On

2019-09-13