Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Dhx29'

584723

Institutional Source

Beutler Lab

Gene Symbol

Dhx29

Ensembl Gene

ENSMUSG00000042426

Gene Name

DExH-box helicase 29

Synonyms

E130202M19Rik, DEAH (Asp-Glu-Ala-His) box polypeptide 29

MMRRC Submission

045623-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7555 (G1)

Quality Score

82.0076

Status

Validated

Chromosome

Chromosomal Location

113063988-113105966 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 113064176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022281] [ENSMUST00000038574] [ENSMUST00000224176]

AlphaFold

Q6PGC1

Predicted Effect

probably benign
Transcript: ENSMUST00000022281

SMART Domains

Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018

Domain	Start	End	E-Value	Type
low complexity region	20	37	N/A	INTRINSIC
DEXDc	134	317	6.42e-34	SMART
HELICc	437	526	3.14e-19	SMART
Pfam:rRNA_proc-arch	580	839	1.7e-91	PFAM
DSHCT	863	1040	1.69e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000038574

SMART Domains

Protein: ENSMUSP00000035244
Gene: ENSMUSG00000042426

Domain	Start	End	E-Value	Type
low complexity region	10	36	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	209	225	N/A	INTRINSIC
low complexity region	240	255	N/A	INTRINSIC
coiled coil region	279	308	N/A	INTRINSIC
low complexity region	343	358	N/A	INTRINSIC
Blast:DEXDc	411	450	2e-14	BLAST
DEXDc	569	763	1.09e-27	SMART
low complexity region	846	856	N/A	INTRINSIC
HELICc	880	985	6.1e-17	SMART
HA2	1047	1138	8.9e-26	SMART
Pfam:OB_NTP_bind	1178	1298	3.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224176

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,248,924 (GRCm39)	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,041,354 (GRCm39)	H502R	probably benign	Het
Adgrf4	T	C	17: 42,983,494 (GRCm39)	S63G	probably benign	Het
Agbl2	C	A	2: 90,621,899 (GRCm39)	L129I	probably damaging	Het
Ankrd11	C	A	8: 123,614,145 (GRCm39)	A2542S	probably damaging	Het
Armc9	A	G	1: 86,203,400 (GRCm39)	K818R	probably damaging	Het
Arsj	T	A	3: 126,231,885 (GRCm39)	C210*	probably null	Het
Aspscr1	C	T	11: 120,563,926 (GRCm39)	A11V	unknown	Het
Bicc1	G	T	10: 70,792,121 (GRCm39)	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,662,942 (GRCm39)	Q73P	probably benign	Het
Capn15	G	T	17: 26,182,406 (GRCm39)	D567E	probably damaging	Het
Catsperg1	A	C	7: 28,889,239 (GRCm39)	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,126,274 (GRCm39)	H72N	unknown	Het
Ccser2	A	T	14: 36,601,457 (GRCm39)	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,894,408 (GRCm39)	S59G	probably benign	Het
Chml	G	A	1: 175,515,456 (GRCm39)	P155L	probably benign	Het
Csmd2	C	T	4: 128,346,251 (GRCm39)	P1504S		Het
Dcbld2	A	G	16: 58,269,081 (GRCm39)		probably null	Het
Ddx21	C	T	10: 62,434,022 (GRCm39)	E246K	probably benign	Het
Dis3l	A	C	9: 64,219,219 (GRCm39)	Y570*	probably null	Het
Dnah14	T	A	1: 181,597,619 (GRCm39)	Y3623N	probably benign	Het
Dock8	A	G	19: 25,152,764 (GRCm39)	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,597,059 (GRCm39)	S1669P	probably benign	Het
Eif1ad12	A	C	12: 87,541,505 (GRCm39)	K5N	unknown	Het
Eif2ak4	T	A	2: 118,247,764 (GRCm39)	I267N	possibly damaging	Het
Ern2	A	T	7: 121,769,464 (GRCm39)	V854E	probably damaging	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm1110	T	A	9: 26,804,924 (GRCm39)	T380S	probably benign	Het
Golga2	G	A	2: 32,178,178 (GRCm39)	R29H	probably benign	Het
Grik5	T	C	7: 24,760,022 (GRCm39)	E259G	probably benign	Het
Grm3	T	C	5: 9,620,000 (GRCm39)	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,244,842 (GRCm39)	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,589,803 (GRCm39)	C643R	probably damaging	Het
Hgfac	T	C	5: 35,199,972 (GRCm39)	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,480,625 (GRCm39)	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,312,610 (GRCm39)	L290*	probably null	Het
Homer3	A	G	8: 70,742,063 (GRCm39)	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,219,816 (GRCm39)	S141R	probably benign	Het
Hspa12b	C	T	2: 130,980,396 (GRCm39)	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,799,787 (GRCm39)	I231M	probably damaging	Het
Inhba	T	A	13: 16,192,222 (GRCm39)	N114K	probably benign	Het
Kmt2b	C	A	7: 30,268,835 (GRCm39)	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,483,061 (GRCm39)	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,382,731 (GRCm39)	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,363 (GRCm39)	K196R	probably benign	Het
Lrrn3	A	T	12: 41,502,910 (GRCm39)	M469K	probably benign	Het
Mafb	T	C	2: 160,207,749 (GRCm39)	E283G	probably damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mmp14	G	T	14: 54,675,199 (GRCm39)	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,927,711 (GRCm39)	N82I	probably benign	Het
Nsun6	T	A	2: 15,001,150 (GRCm39)	T469S	possibly damaging	Het
Or13p4	T	C	4: 118,546,839 (GRCm39)	D270G	possibly damaging	Het
Or5p79	G	C	7: 108,221,933 (GRCm39)	A305P	probably damaging	Het
Or8k30	A	C	2: 86,339,691 (GRCm39)	D296A	probably damaging	Het
Osbpl5	A	T	7: 143,248,670 (GRCm39)	F631I	possibly damaging	Het
Otud3	G	T	4: 138,629,196 (GRCm39)	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,332 (GRCm39)	I418F	possibly damaging	Het
Per1	G	A	11: 68,997,339 (GRCm39)	R838H	probably damaging	Het
Per2	G	A	1: 91,362,857 (GRCm39)	P395S	probably damaging	Het
Per3	G	A	4: 151,102,515 (GRCm39)	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,414,157 (GRCm39)	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,763,687 (GRCm39)	T1227A	probably benign	Het
Pramel30	T	C	4: 144,059,311 (GRCm39)	F341L	probably benign	Het
Psg17	C	T	7: 18,551,019 (GRCm39)	D279N	probably benign	Het
Rnf167	A	G	11: 70,541,623 (GRCm39)	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,362 (GRCm39)	S337P	probably damaging	Het
Sall1	T	C	8: 89,759,786 (GRCm39)	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,891,037 (GRCm39)	V590A	probably benign	Het
Setd1b	A	G	5: 123,295,820 (GRCm39)	D1102G	unknown	Het
Six2	C	A	17: 85,995,135 (GRCm39)	K82N	probably damaging	Het
Snx29	T	C	16: 11,218,806 (GRCm39)	M214T	probably benign	Het
Son	T	C	16: 91,455,810 (GRCm39)	L1519P	probably damaging	Het
Speer1h	A	T	5: 11,647,579 (GRCm39)	N106Y	probably damaging	Het
Spin1	C	T	13: 51,303,085 (GRCm39)	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,143,965 (GRCm39)	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422 (GRCm39)	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,920,950 (GRCm39)		probably null	Het
Themis	A	T	10: 28,657,698 (GRCm39)	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,145,742 (GRCm39)	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750 (GRCm39)	C171R	probably benign	Het
Tsg101	A	G	7: 46,563,159 (GRCm39)	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,303,547 (GRCm39)	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,692,026 (GRCm39)	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,447,937 (GRCm39)	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,319,557 (GRCm39)		probably null	Het
Zfp933	A	G	4: 147,910,589 (GRCm39)	F336L	probably damaging	Het

Other mutations in Dhx29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Dhx29	APN	13	113,101,137 (GRCm39)	missense	probably benign	0.15
IGL00434:Dhx29	APN	13	113,091,759 (GRCm39)	missense	probably benign	0.00
IGL00659:Dhx29	APN	13	113,103,169 (GRCm39)	splice site	probably benign
IGL01618:Dhx29	APN	13	113,101,756 (GRCm39)	missense	probably damaging	1.00
IGL01777:Dhx29	APN	13	113,067,406 (GRCm39)	missense	probably benign	0.42
IGL02010:Dhx29	APN	13	113,103,168 (GRCm39)	critical splice donor site	probably null
IGL02125:Dhx29	APN	13	113,091,834 (GRCm39)	splice site	probably benign
IGL02324:Dhx29	APN	13	113,064,342 (GRCm39)	missense	probably damaging	1.00
IGL02801:Dhx29	APN	13	113,101,180 (GRCm39)	missense	probably damaging	1.00
R0001:Dhx29	UTSW	13	113,101,090 (GRCm39)	missense	probably damaging	0.99
R0362:Dhx29	UTSW	13	113,099,393 (GRCm39)	missense	probably benign
R0468:Dhx29	UTSW	13	113,099,811 (GRCm39)	missense	probably benign
R0569:Dhx29	UTSW	13	113,084,748 (GRCm39)	missense	probably benign	0.01
R0714:Dhx29	UTSW	13	113,064,499 (GRCm39)	missense	possibly damaging	0.55
R1460:Dhx29	UTSW	13	113,101,744 (GRCm39)	splice site	probably benign
R1579:Dhx29	UTSW	13	113,072,132 (GRCm39)	critical splice donor site	probably null
R1657:Dhx29	UTSW	13	113,089,377 (GRCm39)	missense	probably damaging	1.00
R1735:Dhx29	UTSW	13	113,081,620 (GRCm39)	missense	probably benign	0.00
R1768:Dhx29	UTSW	13	113,084,774 (GRCm39)	missense	probably damaging	1.00
R1851:Dhx29	UTSW	13	113,084,815 (GRCm39)	missense	probably damaging	1.00
R1937:Dhx29	UTSW	13	113,101,864 (GRCm39)	missense	probably benign	0.06
R2180:Dhx29	UTSW	13	113,099,406 (GRCm39)	critical splice donor site	probably null
R2219:Dhx29	UTSW	13	113,089,338 (GRCm39)	missense	probably damaging	1.00
R2442:Dhx29	UTSW	13	113,083,508 (GRCm39)	missense	possibly damaging	0.94
R2679:Dhx29	UTSW	13	113,083,910 (GRCm39)	critical splice donor site	probably null
R2908:Dhx29	UTSW	13	113,064,385 (GRCm39)	missense	possibly damaging	0.78
R2912:Dhx29	UTSW	13	113,072,109 (GRCm39)	missense	probably damaging	1.00
R3414:Dhx29	UTSW	13	113,083,807 (GRCm39)	missense	probably damaging	0.99
R3931:Dhx29	UTSW	13	113,095,499 (GRCm39)	missense	probably damaging	1.00
R3957:Dhx29	UTSW	13	113,067,455 (GRCm39)	missense	probably benign
R4065:Dhx29	UTSW	13	113,101,276 (GRCm39)	critical splice donor site	probably null
R4207:Dhx29	UTSW	13	113,064,483 (GRCm39)	missense	probably benign	0.01
R4422:Dhx29	UTSW	13	113,083,781 (GRCm39)	missense	probably damaging	1.00
R4717:Dhx29	UTSW	13	113,083,469 (GRCm39)	missense	unknown
R4718:Dhx29	UTSW	13	113,083,469 (GRCm39)	missense	unknown
R5125:Dhx29	UTSW	13	113,069,134 (GRCm39)	missense	possibly damaging	0.81
R5178:Dhx29	UTSW	13	113,069,134 (GRCm39)	missense	possibly damaging	0.81
R5263:Dhx29	UTSW	13	113,084,755 (GRCm39)	missense	probably damaging	1.00
R5458:Dhx29	UTSW	13	113,103,155 (GRCm39)	missense	probably benign	0.00
R5469:Dhx29	UTSW	13	113,081,073 (GRCm39)	missense	possibly damaging	0.94
R5541:Dhx29	UTSW	13	113,076,908 (GRCm39)	missense	possibly damaging	0.47
R5573:Dhx29	UTSW	13	113,069,749 (GRCm39)	missense	probably benign	0.07
R5664:Dhx29	UTSW	13	113,083,413 (GRCm39)	missense	probably damaging	1.00
R5682:Dhx29	UTSW	13	113,067,383 (GRCm39)	missense	probably damaging	1.00
R5769:Dhx29	UTSW	13	113,090,251 (GRCm39)	missense	probably damaging	0.99
R5917:Dhx29	UTSW	13	113,099,377 (GRCm39)	missense	probably damaging	1.00
R5928:Dhx29	UTSW	13	113,101,002 (GRCm39)	missense	probably benign	0.00
R6115:Dhx29	UTSW	13	113,089,335 (GRCm39)	critical splice acceptor site	probably null
R6144:Dhx29	UTSW	13	113,101,105 (GRCm39)	missense	probably damaging	1.00
R6195:Dhx29	UTSW	13	113,101,071 (GRCm39)	missense	probably benign	0.08
R6233:Dhx29	UTSW	13	113,101,071 (GRCm39)	missense	probably benign	0.08
R6430:Dhx29	UTSW	13	113,081,153 (GRCm39)	missense	possibly damaging	0.77
R6480:Dhx29	UTSW	13	113,090,322 (GRCm39)	nonsense	probably null
R6527:Dhx29	UTSW	13	113,069,076 (GRCm39)	missense	probably damaging	1.00
R6856:Dhx29	UTSW	13	113,089,395 (GRCm39)	missense	probably benign	0.43
R7391:Dhx29	UTSW	13	113,099,393 (GRCm39)	missense	probably benign
R7602:Dhx29	UTSW	13	113,081,093 (GRCm39)	missense	possibly damaging	0.95
R8744:Dhx29	UTSW	13	113,089,418 (GRCm39)	missense	possibly damaging	0.54
R9281:Dhx29	UTSW	13	113,078,240 (GRCm39)	missense	possibly damaging	0.82
R9450:Dhx29	UTSW	13	113,083,862 (GRCm39)	missense	possibly damaging	0.78
R9496:Dhx29	UTSW	13	113,089,460 (GRCm39)	missense	probably damaging	1.00
R9716:Dhx29	UTSW	13	113,081,612 (GRCm39)	missense	possibly damaging	0.83
Z1177:Dhx29	UTSW	13	113,092,051 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAAGTGAGCGAGCCTTG -3'
(R):5'- TGCACTTCTGGCTCTGGAAG -3'

Sequencing Primer
(F):5'- GAGCCCCGCGTGACTTTTC -3'
(R):5'- TCTGGAAGCAGACACGGC -3'

Posted On

2019-10-17