Mutagenetix > Incidental Mutation

Incidental Mutation 'R5263:Dhx29'

401568

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

042831-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5263 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

113063988-113105966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113084755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 658 (C658R)

Ref Sequence

ENSEMBL: ENSMUSP00000035244 (fasta)

Gene Model

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

AlphaFold

Q6PGC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038574
AA Change: C658R

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

SMART Domains

Protein: ENSMUSP00000035244
Gene: ENSMUSG00000042426
AA Change: C658R

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	G	T	3: 138,133,816 (GRCm39)	V309L	probably benign	Het
Agmo	T	C	12: 37,407,680 (GRCm39)	V188A	probably benign	Het
Aqr	A	G	2: 113,947,059 (GRCm39)	M1041T	probably damaging	Het
Arhgef4	T	A	1: 34,764,078 (GRCm39)	S1111R	possibly damaging	Het
Ascc3	A	C	10: 50,592,757 (GRCm39)	E1144D	probably benign	Het
Cct3	T	C	3: 88,228,672 (GRCm39)		probably null	Het
Cd209f	T	C	8: 4,154,506 (GRCm39)	T114A	probably benign	Het
Cgnl1	G	A	9: 71,539,936 (GRCm39)	Q1103*	probably null	Het
Cop1	G	A	1: 159,152,507 (GRCm39)	D586N	probably damaging	Het
Dcaf5	A	G	12: 80,395,120 (GRCm39)	S350P	probably damaging	Het
Dync1i1	G	A	6: 5,969,446 (GRCm39)	V424I	possibly damaging	Het
Gfap	C	T	11: 102,787,756 (GRCm39)	R63Q	probably damaging	Het
Gm10563	CTTT	CTTTATTT	4: 155,698,940 (GRCm39)		probably null	Het
Gprc6a	C	A	10: 51,502,900 (GRCm39)	G321V	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Izumo1r	A	G	9: 14,812,976 (GRCm39)	C99R	probably damaging	Het
Lrp1b	T	C	2: 41,850,691 (GRCm39)	D102G	probably damaging	Het
Mettl4	G	A	17: 95,047,937 (GRCm39)	Q235*	probably null	Het
Mmrn2	A	G	14: 34,121,541 (GRCm39)	T804A	probably benign	Het
Mrgprb5	A	G	7: 47,817,937 (GRCm39)	V266A	probably damaging	Het
Ntng1	T	C	3: 109,842,188 (GRCm39)	D195G	probably damaging	Het
Pld4	T	C	12: 112,731,465 (GRCm39)	L206P	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Prkd1	A	G	12: 50,435,089 (GRCm39)	L546P	probably damaging	Het
Rhob	A	T	12: 8,549,232 (GRCm39)	M134K	probably benign	Het
Ryr3	A	G	2: 112,548,347 (GRCm39)	S3087P	possibly damaging	Het
Sema6c	T	C	3: 95,080,463 (GRCm39)	L887P	probably benign	Het
Sltm	T	C	9: 70,492,081 (GRCm39)	S648P	unknown	Het
Sucnr1	A	G	3: 59,994,190 (GRCm39)	I239M	possibly damaging	Het
Tgtp2	T	A	11: 48,950,090 (GRCm39)	M161L	probably damaging	Het
Trpm7	A	G	2: 126,663,137 (GRCm39)	V1037A	probably benign	Het
Vmn2r13	A	T	5: 109,321,841 (GRCm39)	H285Q	probably benign	Het
Zfp971	T	A	2: 177,675,555 (GRCm39)	C385S	probably damaging	Het
Zfpm2	T	A	15: 40,962,791 (GRCm39)	V283E	probably benign	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,584,556 (GRCm39)		probably benign	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
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'- ACACTTGGGCACACTGAATAAG -3'
(R):5'- GCCACATCGGTTTAATACAGAC -3'

Sequencing Primer
(F):5'- CAGCTTGGGATCCACTGTGTAAC -3'
(R):5'- GACATGTTTAGAATGTATCTGGACAC -3'

Posted On

2016-07-06