Mutagenetix > Incidental Mutation

Incidental Mutation 'R5629:Ddx24'

442008

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

043280-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5629 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

103374241-103392089 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 103391806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152058 (fasta)

Gene Model

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

AlphaFold

Q9ESV0

Predicted Effect

probably benign
Transcript: ENSMUST00000044923

SMART Domains

Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645

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

unknown
Transcript: ENSMUST00000110001
AA Change: T38A

SMART Domains

Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: T38A

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 benign
Transcript: ENSMUST00000221211

Predicted Effect

probably benign
Transcript: ENSMUST00000223233

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,014,507 (GRCm39)	D189N	probably benign	Het
Adamts9	A	T	6: 92,775,114 (GRCm39)	V1052D	probably damaging	Het
Apob	T	C	12: 8,057,847 (GRCm39)	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,602,276 (GRCm39)	K291N	probably benign	Het
Arsk	A	T	13: 76,242,027 (GRCm39)	I82N	probably damaging	Het
Art1	A	G	7: 101,756,286 (GRCm39)	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,598,159 (GRCm39)	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,666,130 (GRCm39)		probably null	Het
Catsper1	C	T	19: 5,386,165 (GRCm39)	P133S	probably benign	Het
Celsr3	A	G	9: 108,726,266 (GRCm39)	D3165G	probably benign	Het
Cldn19	T	A	4: 119,114,116 (GRCm39)	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,382,802 (GRCm39)	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,217 (GRCm39)	I1094T	probably damaging	Het
Ern2	T	A	7: 121,769,389 (GRCm39)	H879L	probably damaging	Het
Etv4	T	A	11: 101,662,751 (GRCm39)	H277L	probably damaging	Het
Faap100	G	T	11: 120,267,837 (GRCm39)	A312D	probably damaging	Het
Glipr1l1	G	A	10: 111,914,308 (GRCm39)	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,414,097 (GRCm39)	S14P	possibly damaging	Het
Hapln1	A	G	13: 89,749,634 (GRCm39)	T60A	probably damaging	Het
Hars2	T	A	18: 36,921,719 (GRCm39)	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,589,242 (GRCm39)	Y79*	probably null	Het
Iqgap2	T	A	13: 95,768,682 (GRCm39)	N1406I	probably damaging	Het
Kalrn	T	C	16: 33,860,304 (GRCm39)	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,526,047 (GRCm39)	S90R	probably benign	Het
Mettl8	T	C	2: 70,795,913 (GRCm39)	I372V	probably benign	Het
Mfn1	A	T	3: 32,615,659 (GRCm39)	T341S	possibly damaging	Het
Mocos	T	A	18: 24,797,142 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,036 (GRCm39)	S2661P	possibly damaging	Het
Myo15a	C	T	11: 60,370,578 (GRCm39)	P1113S	probably benign	Het
Myo5a	A	T	9: 75,111,127 (GRCm39)	I1540F	possibly damaging	Het
Myoc	T	C	1: 162,476,156 (GRCm39)	Y287H	probably damaging	Het
Napepld	A	G	5: 21,880,901 (GRCm39)	F165L	probably benign	Het
Ndufb10	T	C	17: 24,941,656 (GRCm39)	E102G	probably damaging	Het
Nrros	T	A	16: 31,963,223 (GRCm39)	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,897,460 (GRCm39)	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Oas2	G	A	5: 120,876,516 (GRCm39)	Q476*	probably null	Het
Or51f5	A	T	7: 102,423,847 (GRCm39)	I39F	possibly damaging	Het
Pcnx2	C	A	8: 126,624,780 (GRCm39)	W14L	probably damaging	Het
Pip4p1	T	C	14: 51,165,373 (GRCm39)	H278R	probably benign	Het
Piwil2	C	T	14: 70,660,416 (GRCm39)	V70M	probably damaging	Het
Prss23	A	C	7: 89,159,400 (GRCm39)	V223G	probably damaging	Het
Rarres2	A	T	6: 48,547,194 (GRCm39)	L122Q	probably benign	Het
Robo1	T	C	16: 72,780,598 (GRCm39)	V776A	probably benign	Het
Robo3	G	A	9: 37,330,507 (GRCm39)	Q1008*	probably null	Het
Robo4	G	A	9: 37,319,658 (GRCm39)	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,395,464 (GRCm39)	M196V	probably benign	Het
Septin7	T	A	9: 25,199,589 (GRCm39)	Y163N	probably damaging	Het
Skint6	G	A	4: 112,870,176 (GRCm39)	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,759,545 (GRCm39)	H13R	probably benign	Het
Slc25a39	A	C	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc8a3	G	A	12: 81,246,405 (GRCm39)	R883C	probably damaging	Het
Spag17	A	T	3: 99,987,435 (GRCm39)	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,438,705 (GRCm39)	I321N	probably damaging	Het
Stk32b	G	A	5: 37,614,576 (GRCm39)	P311S	probably damaging	Het
Svs3a	T	A	2: 164,132,040 (GRCm39)	S203T	probably benign	Het
Taf3	A	T	2: 9,922,989 (GRCm39)	I45N	probably damaging	Het
Taf7	T	C	18: 37,776,555 (GRCm39)	N4S	probably benign	Het
Tial1	T	A	7: 128,046,421 (GRCm39)	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,770,904 (GRCm39)	E78V	probably benign	Het
Tmem19	A	G	10: 115,183,165 (GRCm39)	F137L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trim30d	T	C	7: 104,137,136 (GRCm39)	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,151,117 (GRCm39)	H4Q	unknown	Het
Usp40	C	T	1: 87,908,731 (GRCm39)	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,296,011 (GRCm39)	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,012,538 (GRCm39)	V800M	possibly damaging	Het
Vps11	A	T	9: 44,267,673 (GRCm39)	I313N	probably damaging	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het
Zic4	G	A	9: 91,260,805 (GRCm39)	R20H	probably benign	Het
Zp3r	C	T	1: 130,510,616 (GRCm39)	V369M	probably 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
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'- TGTGGAAGTGGCGCTACATG -3'
(R):5'- CGGAACTGCAGTACTGAAGCTG -3'

Sequencing Primer
(F):5'- GATTCAAATCTGGATCCTGCTCGG -3'
(R):5'- TGAAGCTGCTGCAGTTCC -3'

Posted On

2016-11-08