Mutagenetix > Incidental Mutation

Incidental Mutation 'R2908:Dhx29'

261114

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

040495-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113063988-113105966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113064385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 20 (V20A)

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
AA Change: V20A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035244
Gene: ENSMUSG00000042426
AA Change: V20A

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

noncoding transcript
Transcript: ENSMUST00000223866

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224176
AA Change: V20A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226022

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,149,237 (GRCm39)		probably null	Het
Ap1b1	T	A	11: 4,981,641 (GRCm39)	N516K	probably damaging	Het
Atp1a4	A	G	1: 172,062,044 (GRCm39)	Y694H	probably benign	Het
Bhlha9	T	C	11: 76,563,433 (GRCm39)	V20A	probably benign	Het
Ccl28	C	A	13: 120,112,398 (GRCm39)		probably null	Het
Cdk14	T	C	5: 5,299,051 (GRCm39)	I55V	probably benign	Het
Cit	C	A	5: 116,119,735 (GRCm39)	D1246E	probably benign	Het
Clp1	A	G	2: 84,554,488 (GRCm39)	V227A	possibly damaging	Het
Lima1	C	T	15: 99,699,991 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,844,458 (GRCm39)	I1883V	probably benign	Het
Myh1	C	T	11: 67,111,522 (GRCm39)	Q1654*	probably null	Het
Or5d46	T	C	2: 88,170,827 (GRCm39)	I306T	probably benign	Het
Pbx3	G	T	2: 34,062,933 (GRCm39)	T422K	probably damaging	Het
Plekhg4	T	C	8: 106,107,493 (GRCm39)	L1008P	probably damaging	Het
Rbm26	T	A	14: 105,380,270 (GRCm39)	T516S	probably benign	Het
Slc25a40	C	T	5: 8,477,505 (GRCm39)	T30I	probably damaging	Het
Spata31d1c	A	T	13: 65,181,005 (GRCm39)	I35F	possibly damaging	Het
Tmem18	A	T	12: 30,637,252 (GRCm39)	R78*	probably null	Het
Uggt2	C	T	14: 119,256,919 (GRCm39)	S1105N	probably benign	Het
Zfp53	C	A	17: 21,728,736 (GRCm39)	C256*	probably null	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
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
R7555:Dhx29	UTSW	13	113,064,176 (GRCm39)	start gained	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'- AAACTTAGCGACCAGTGGCG -3'
(R):5'- GTCTTTGCTGGACAAGAAGC -3'

Sequencing Primer
(F):5'- TCTGAGGACACGGGCCAATTG -3'
(R):5'- CTGGACAAGAAGCAGGGTCTG -3'

Posted On

2015-01-23