Mutagenetix > Incidental Mutation

Incidental Mutation 'R7151:Ddx24'

554148

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

045253-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103374241-103392089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103390347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 215 (T215A)

Ref Sequence

ENSEMBL: ENSMUSP00000105628 (fasta)

Gene Model

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

AlphaFold

Q9ESV0

Predicted Effect

probably benign
Transcript: ENSMUST00000044923
AA Change: T169A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: T169A

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: T215A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: T215A

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

probably benign
Transcript: ENSMUST00000221211
AA Change: T169A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000223233

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	A	2: 32,630,618 (GRCm39)	Q52L	unknown	Het
Acsl1	A	G	8: 46,966,634 (GRCm39)	D202G	probably damaging	Het
Adam3	A	T	8: 25,185,271 (GRCm39)	C476S	probably damaging	Het
Adam34	T	A	8: 44,104,499 (GRCm39)	E382V	probably benign	Het
Akap5	G	A	12: 76,375,023 (GRCm39)	V152I	probably benign	Het
Aldh5a1	C	T	13: 25,121,382 (GRCm39)	W57*	probably null	Het
Angptl2	C	T	2: 33,133,922 (GRCm39)	Q415*	probably null	Het
Bnc1	G	T	7: 81,623,055 (GRCm39)	T724N	possibly damaging	Het
Brca2	T	C	5: 150,464,901 (GRCm39)	V1555A	probably benign	Het
Btn1a1	T	A	13: 23,643,483 (GRCm39)	D322V	probably damaging	Het
Chsy3	T	A	18: 59,542,357 (GRCm39)	D498E	possibly damaging	Het
Dhx57	A	T	17: 80,580,476 (GRCm39)	V492E	probably damaging	Het
Dnhd1	G	A	7: 105,359,234 (GRCm39)	R3523Q	probably benign	Het
Dock3	T	A	9: 106,841,916 (GRCm39)	D971V	possibly damaging	Het
Ercc8	T	C	13: 108,323,816 (GRCm39)		probably null	Het
Erich5	T	A	15: 34,471,095 (GRCm39)	L108Q	probably damaging	Het
F5	A	T	1: 164,029,230 (GRCm39)	Y1743F	probably damaging	Het
Gale	T	C	4: 135,694,503 (GRCm39)	V243A	probably damaging	Het
Gspt1	T	A	16: 11,071,692 (GRCm39)	Q57L	probably benign	Het
Gtf3a	C	A	5: 146,888,085 (GRCm39)	Q129K	probably benign	Het
Heyl	T	C	4: 123,140,254 (GRCm39)	V271A	probably benign	Het
Hsd17b4	T	C	18: 50,261,437 (GRCm39)	F7L	probably damaging	Het
Hspa12a	T	C	19: 58,810,594 (GRCm39)	T150A	probably benign	Het
Ift140	T	A	17: 25,274,699 (GRCm39)	D790E	probably damaging	Het
Igkv4-69	T	A	6: 69,260,917 (GRCm39)	Y70F	probably damaging	Het
Il1rap	T	C	16: 26,530,878 (GRCm39)	Y405H	probably damaging	Het
Insyn2a	A	C	7: 134,520,374 (GRCm39)	I52S	probably damaging	Het
Irf2bpl	G	T	12: 86,930,127 (GRCm39)	P182Q	probably benign	Het
Itm2b	C	A	14: 73,605,829 (GRCm39)		probably benign	Het
Kcnc2	T	C	10: 112,294,414 (GRCm39)	V106A	possibly damaging	Het
Krt87	C	A	15: 101,387,529 (GRCm39)	D170Y	probably damaging	Het
Lca5	T	A	9: 83,280,693 (GRCm39)	Y369F	probably benign	Het
Mgat5	T	A	1: 127,373,999 (GRCm39)	D466E	probably damaging	Het
Mier3	C	T	13: 111,851,302 (GRCm39)	P428L	probably benign	Het
Myo6	T	C	9: 80,152,418 (GRCm39)	Y167H	unknown	Het
Neu2	A	G	1: 87,524,297 (GRCm39)	E94G	probably benign	Het
Nlrp9a	A	T	7: 26,256,672 (GRCm39)	K97*	probably null	Het
Npdc1	A	G	2: 25,299,120 (GRCm39)	M306V	probably damaging	Het
Odf2l	A	T	3: 144,832,827 (GRCm39)	N95I	probably benign	Het
Or10j3	A	G	1: 173,031,633 (GRCm39)	K237E	probably damaging	Het
Or13d1	G	T	4: 52,970,665 (GRCm39)	V15L	probably benign	Het
Or5t16	A	G	2: 86,819,385 (GRCm39)	V45A	probably benign	Het
Or7g21	A	G	9: 19,033,037 (GRCm39)	Y259C	possibly damaging	Het
P2ry12	A	G	3: 59,125,127 (GRCm39)	F183L	probably benign	Het
Proser3	A	G	7: 30,239,749 (GRCm39)	F452L	possibly damaging	Het
Ptgfrn	G	T	3: 100,987,511 (GRCm39)	Y117*	probably null	Het
Rab3gap2	G	T	1: 184,980,250 (GRCm39)	V360F	probably benign	Het
Rp1l1	A	T	14: 64,266,475 (GRCm39)	D687V	possibly damaging	Het
Rxfp2	T	G	5: 149,966,572 (GRCm39)	N103K	probably benign	Het
Scfd2	T	A	5: 74,558,326 (GRCm39)	Q517L	possibly damaging	Het
Scnn1b	G	A	7: 121,517,109 (GRCm39)	A582T	probably damaging	Het
Serpinb6e	T	C	13: 34,021,818 (GRCm39)	E170G	probably damaging	Het
Serpinb8	T	A	1: 107,533,527 (GRCm39)	V194E	probably damaging	Het
Sgcz	T	A	8: 38,006,833 (GRCm39)	H191L	possibly damaging	Het
Sirt1	A	T	10: 63,159,775 (GRCm39)	L435Q	probably damaging	Het
Sorcs1	G	A	19: 50,301,420 (GRCm39)	P315S	probably damaging	Het
Spdef	T	A	17: 27,939,134 (GRCm39)	S71C	possibly damaging	Het
Spta1	T	A	1: 174,025,317 (GRCm39)	H727Q	probably damaging	Het
Srsf1	C	T	11: 87,940,084 (GRCm39)	Q199*	probably null	Het
Stard9	A	T	2: 120,526,623 (GRCm39)	D960V	probably benign	Het
Tcp10c	A	T	17: 13,576,166 (GRCm39)	I49F	possibly damaging	Het
Tgm2	T	C	2: 157,971,315 (GRCm39)	N308S	possibly damaging	Het
Tiam2	A	G	17: 3,498,660 (GRCm39)	D812G	probably benign	Het
Tph1	A	T	7: 46,311,541 (GRCm39)	V67D	possibly damaging	Het
Trps1	C	T	15: 50,685,793 (GRCm39)	R794H	possibly damaging	Het
Ttn	C	T	2: 76,683,505 (GRCm39)	A906T		Het
Vmn1r124	G	A	7: 20,994,184 (GRCm39)	P120L	probably benign	Het
Vmn2r92	A	T	17: 18,387,005 (GRCm39)	T115S	probably benign	Het
Wdr11	A	G	7: 129,208,376 (GRCm39)	D377G	probably damaging	Het
Wdr55	G	T	18: 36,895,989 (GRCm39)	A251S	possibly damaging	Het
Zbtb7b	C	T	3: 89,288,209 (GRCm39)	R203H	probably benign	Het
Zfp109	A	T	7: 23,929,231 (GRCm39)	H67Q	probably benign	Het
Zfp462	G	A	4: 55,051,271 (GRCm39)	C2248Y	probably damaging	Het
Zyg11b	T	C	4: 108,102,119 (GRCm39)	H534R	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
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'- GAACAGCCCTTACCTGTCTCAG -3'
(R):5'- CTGCTGCCCAGAATGAGTATG -3'

Sequencing Primer
(F):5'- CAGCTCCAAGGATGTCCAGTTTG -3'
(R):5'- TGCTGCCCAGAATGAGTATGAAGTC -3'

Posted On

2019-05-15