Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02801:Dhx29'

360184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx29

Ensembl Gene

ENSMUSG00000042426

Gene Name

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

Synonyms

E130202M19Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02801

Quality Score

Status

Chromosome

Chromosomal Location

112927454-112969432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112964646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 1241 (C1241Y)

Ref Sequence

ENSEMBL: ENSMUSP00000035244 (fasta)

Gene Model

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

AlphaFold

Q6PGC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038574
AA Change: C1241Y

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

SMART Domains

Protein: ENSMUSP00000035244
Gene: ENSMUSG00000042426
AA Change: C1241Y

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap5	A	T	12: 76,328,995	K400N	probably benign	Het
Aox2	A	T	1: 58,354,177	I1193F	probably damaging	Het
Arhgef16	A	T	4: 154,291,507	L10Q	probably damaging	Het
Arl10	T	C	13: 54,575,883	V106A	probably benign	Het
Bmi1	T	C	2: 18,681,881	Y24H	probably damaging	Het
Cd163	T	A	6: 124,320,529	I878K	probably benign	Het
Col12a1	A	G	9: 79,608,414		probably null	Het
Csmd2	T	C	4: 128,552,075		probably null	Het
Dcp2	G	T	18: 44,417,711	M417I	probably damaging	Het
Ddx11	T	A	17: 66,148,033	C662S	probably benign	Het
Dnajc6	C	T	4: 101,597,813	P37L	probably benign	Het
Dqx1	A	G	6: 83,060,495		probably null	Het
Dzip1	T	A	14: 118,885,655	K643*	probably null	Het
Ecel1	A	G	1: 87,152,003	S463P	probably damaging	Het
Eml5	A	G	12: 98,817,845	V1361A	possibly damaging	Het
Fads2	C	A	19: 10,082,645	A222S	possibly damaging	Het
Fancd2	A	G	6: 113,593,317	N1410D	probably benign	Het
Fbxw16	A	G	9: 109,441,076	F199S	possibly damaging	Het
Frem2	A	G	3: 53,652,175	V1637A	possibly damaging	Het
Gabrg2	A	G	11: 41,912,393	S442P	probably damaging	Het
Gprin3	T	C	6: 59,354,981	T114A	possibly damaging	Het
Hoxd8	A	G	2: 74,706,568	E27G	probably damaging	Het
Isl2	A	G	9: 55,545,532		probably null	Het
Lamc2	T	A	1: 153,136,783	H715L	probably benign	Het
Lrif1	T	C	3: 106,734,614	V102A	possibly damaging	Het
Lrrc39	A	G	3: 116,578,346	N254S	possibly damaging	Het
Med13l	T	C	5: 118,745,113	W1346R	probably damaging	Het
Melk	T	C	4: 44,360,930	I570T	probably damaging	Het
Mlkl	G	A	8: 111,316,432	T361M	probably benign	Het
Myo1f	T	A	17: 33,578,137	M94K	probably damaging	Het
Naip1	A	G	13: 100,444,368	C124R	probably damaging	Het
Nek1	G	A	8: 61,121,061		probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Pde1c	G	T	6: 56,173,666	N289K	probably damaging	Het
Pfas	G	A	11: 68,988,277		probably benign	Het
Pms2	A	T	5: 143,925,835	I587F	probably benign	Het
Ppargc1b	T	C	18: 61,307,684	E721G	possibly damaging	Het
Ppp2r1b	A	G	9: 50,878,827	I435V	probably benign	Het
Psip1	C	T	4: 83,458,120	S494N	probably benign	Het
Ranbp3	T	C	17: 56,710,766	V474A	probably benign	Het
Rnf220	C	T	4: 117,273,251	C259Y	probably damaging	Het
Sdr16c6	T	C	4: 4,076,603	I99V	probably benign	Het
Slc36a1	A	T	11: 55,226,053	I303F	probably benign	Het
Slc4a1	C	T	11: 102,359,146		probably null	Het
Syncrip	A	T	9: 88,479,809	D84E	probably damaging	Het
Tbc1d9b	T	C	11: 50,152,830	Y593H	probably damaging	Het
Tenm2	G	T	11: 36,047,030	Y1605*	probably null	Het
Tmem135	T	A	7: 89,154,125	H280L	probably benign	Het
Tmem229a	T	A	6: 24,955,122	Q211L	probably benign	Het
Txlna	T	C	4: 129,640,408	D5G	probably damaging	Het
Vmn2r57	T	C	7: 41,448,632	I4V	probably benign	Het
Wdfy3	A	G	5: 101,907,587	L1539S	probably damaging	Het
Zdhhc14	T	G	17: 5,726,819		probably null	Het

Other mutations in Dhx29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Dhx29	APN	13	112964603	missense	probably benign	0.15
IGL00434:Dhx29	APN	13	112955225	missense	probably benign	0.00
IGL00659:Dhx29	APN	13	112966635	splice site	probably benign
IGL01618:Dhx29	APN	13	112965222	missense	probably damaging	1.00
IGL01777:Dhx29	APN	13	112930872	missense	probably benign	0.42
IGL02010:Dhx29	APN	13	112966634	critical splice donor site	probably null
IGL02125:Dhx29	APN	13	112955300	splice site	probably benign
IGL02324:Dhx29	APN	13	112927808	missense	probably damaging	1.00
R0001:Dhx29	UTSW	13	112964556	missense	probably damaging	0.99
R0362:Dhx29	UTSW	13	112962859	missense	probably benign
R0468:Dhx29	UTSW	13	112963277	missense	probably benign
R0569:Dhx29	UTSW	13	112948214	missense	probably benign	0.01
R0714:Dhx29	UTSW	13	112927965	missense	possibly damaging	0.55
R1460:Dhx29	UTSW	13	112965210	splice site	probably benign
R1579:Dhx29	UTSW	13	112935598	critical splice donor site	probably null
R1657:Dhx29	UTSW	13	112952843	missense	probably damaging	1.00
R1735:Dhx29	UTSW	13	112945086	missense	probably benign	0.00
R1768:Dhx29	UTSW	13	112948240	missense	probably damaging	1.00
R1851:Dhx29	UTSW	13	112948281	missense	probably damaging	1.00
R1937:Dhx29	UTSW	13	112965330	missense	probably benign	0.06
R2180:Dhx29	UTSW	13	112962872	critical splice donor site	probably null
R2219:Dhx29	UTSW	13	112952804	missense	probably damaging	1.00
R2442:Dhx29	UTSW	13	112946974	missense	possibly damaging	0.94
R2679:Dhx29	UTSW	13	112947376	critical splice donor site	probably null
R2908:Dhx29	UTSW	13	112927851	missense	possibly damaging	0.78
R2912:Dhx29	UTSW	13	112935575	missense	probably damaging	1.00
R3414:Dhx29	UTSW	13	112947273	missense	probably damaging	0.99
R3931:Dhx29	UTSW	13	112958965	missense	probably damaging	1.00
R3957:Dhx29	UTSW	13	112930921	missense	probably benign
R4065:Dhx29	UTSW	13	112964742	critical splice donor site	probably null
R4207:Dhx29	UTSW	13	112927949	missense	probably benign	0.01
R4422:Dhx29	UTSW	13	112947247	missense	probably damaging	1.00
R4717:Dhx29	UTSW	13	112946935	missense	unknown
R4718:Dhx29	UTSW	13	112946935	missense	unknown
R5125:Dhx29	UTSW	13	112932600	missense	possibly damaging	0.81
R5178:Dhx29	UTSW	13	112932600	missense	possibly damaging	0.81
R5263:Dhx29	UTSW	13	112948221	missense	probably damaging	1.00
R5458:Dhx29	UTSW	13	112966621	missense	probably benign	0.00
R5469:Dhx29	UTSW	13	112944539	missense	possibly damaging	0.94
R5541:Dhx29	UTSW	13	112940374	missense	possibly damaging	0.47
R5573:Dhx29	UTSW	13	112933215	missense	probably benign	0.07
R5664:Dhx29	UTSW	13	112946879	missense	probably damaging	1.00
R5682:Dhx29	UTSW	13	112930849	missense	probably damaging	1.00
R5769:Dhx29	UTSW	13	112953717	missense	probably damaging	0.99
R5917:Dhx29	UTSW	13	112962843	missense	probably damaging	1.00
R5928:Dhx29	UTSW	13	112964468	missense	probably benign	0.00
R6115:Dhx29	UTSW	13	112952801	critical splice acceptor site	probably null
R6144:Dhx29	UTSW	13	112964571	missense	probably damaging	1.00
R6195:Dhx29	UTSW	13	112964537	missense	probably benign	0.08
R6233:Dhx29	UTSW	13	112964537	missense	probably benign	0.08
R6430:Dhx29	UTSW	13	112944619	missense	possibly damaging	0.77
R6480:Dhx29	UTSW	13	112953788	nonsense	probably null
R6527:Dhx29	UTSW	13	112932542	missense	probably damaging	1.00
R6856:Dhx29	UTSW	13	112952861	missense	probably benign	0.43
R7391:Dhx29	UTSW	13	112962859	missense	probably benign
R7555:Dhx29	UTSW	13	112927642	start gained	probably benign
R7602:Dhx29	UTSW	13	112944559	missense	possibly damaging	0.95
R8744:Dhx29	UTSW	13	112952884	missense	possibly damaging	0.54
R9281:Dhx29	UTSW	13	112941706	missense	possibly damaging	0.82
R9450:Dhx29	UTSW	13	112947328	missense	possibly damaging	0.78
R9496:Dhx29	UTSW	13	112952926	missense	probably damaging	1.00
R9716:Dhx29	UTSW	13	112945078	missense	possibly damaging	0.83
Z1177:Dhx29	UTSW	13	112955517	missense	probably null	1.00

Posted On

2015-12-18