Mutagenetix > Incidental Mutation

Incidental Mutation 'R0001:Dhx29'

32262

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

038297-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0001 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113063988-113105966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113101090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1211 (L1211P)

Ref Sequence

ENSEMBL: ENSMUSP00000035244 (fasta)

Gene Model

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

AlphaFold

Q6PGC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038574
AA Change: L1211P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035244
Gene: ENSMUSG00000042426
AA Change: L1211P

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

Meta Mutation Damage Score

0.7190

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,288,534 (GRCm39)		probably benign	Het
A4galt	A	G	15: 83,112,490 (GRCm39)	F98L	probably benign	Het
Abca4	T	G	3: 121,874,660 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,342,894 (GRCm39)		probably benign	Het
Agbl1	A	T	7: 76,069,611 (GRCm39)	H367L	probably damaging	Het
Apoa4	C	A	9: 46,154,190 (GRCm39)	Q264K	probably benign	Het
Camsap2	A	T	1: 136,210,626 (GRCm39)		probably benign	Het
Cdan1	C	A	2: 120,554,232 (GRCm39)	R939L	probably benign	Het
Ceacam18	G	A	7: 43,286,300 (GRCm39)	V58I	possibly damaging	Het
Ciita	A	T	16: 10,332,297 (GRCm39)		probably benign	Het
Clk4	T	A	11: 51,159,592 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,507,105 (GRCm39)	D215G	probably benign	Het
Col11a2	T	C	17: 34,280,586 (GRCm39)	S1218P	probably benign	Het
Col20a1	T	C	2: 180,626,205 (GRCm39)		probably benign	Het
Ctsb	A	G	14: 63,373,071 (GRCm39)	E76G	probably benign	Het
Ctu2	T	C	8: 123,205,659 (GRCm39)	C161R	probably benign	Het
Dhx9	G	T	1: 153,338,382 (GRCm39)	T759K	probably damaging	Het
Dmxl1	T	C	18: 50,021,964 (GRCm39)		probably benign	Het
Dpysl3	C	T	18: 43,491,440 (GRCm39)	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,095,864 (GRCm39)	K453*	probably null	Het
Epha7	T	C	4: 28,961,279 (GRCm39)		probably benign	Het
Fat3	T	C	9: 16,289,169 (GRCm39)	D118G	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Foxn4	T	A	5: 114,398,931 (GRCm39)	Q159L	probably damaging	Het
Frs2	G	T	10: 116,910,781 (GRCm39)	H194N	possibly damaging	Het
Fut8	A	T	12: 77,522,089 (GRCm39)	*576L	probably null	Het
Galns	T	C	8: 123,322,622 (GRCm39)		probably benign	Het
Gamt	G	A	10: 80,094,895 (GRCm39)		probably benign	Het
Gpn1	T	A	5: 31,652,961 (GRCm39)		probably benign	Het
Ipcef1	G	T	10: 6,850,600 (GRCm39)	H330Q	probably damaging	Het
Itga4	A	C	2: 79,156,931 (GRCm39)	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,259,787 (GRCm39)	I229V	probably benign	Het
Katnal1	A	G	5: 148,858,085 (GRCm39)	S42P	probably damaging	Het
Kcnu1	A	T	8: 26,349,298 (GRCm39)	D142V	probably damaging	Het
Lig3	C	T	11: 82,681,417 (GRCm39)	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,224,817 (GRCm39)	S344G	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,507,625 (GRCm39)		probably benign	Het
Mki67	C	T	7: 135,300,901 (GRCm39)	V1378M	probably damaging	Het
Mki67	T	A	7: 135,302,748 (GRCm39)	D762V	probably damaging	Het
Mmp9	A	G	2: 164,790,303 (GRCm39)	T43A	probably benign	Het
Muc6	T	C	7: 141,227,841 (GRCm39)	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,351,158 (GRCm39)		probably null	Het
Naip5	C	A	13: 100,359,622 (GRCm39)	S538I	probably benign	Het
Nek3	A	T	8: 22,648,628 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,052,585 (GRCm39)	S948P	probably damaging	Het
Nyap2	A	T	1: 81,169,822 (GRCm39)	H193L	probably benign	Het
Or52h1	T	A	7: 103,828,680 (GRCm39)	K312*	probably null	Het
Or9s23	A	G	1: 92,501,183 (GRCm39)	K97E	possibly damaging	Het
Patl2	G	A	2: 121,956,191 (GRCm39)		probably benign	Het
Pcdhb11	A	T	18: 37,557,042 (GRCm39)	R791W	probably benign	Het
Pkd1l3	C	A	8: 110,355,265 (GRCm39)		probably benign	Het
Pkn2	A	T	3: 142,534,749 (GRCm39)	V73D	probably benign	Het
Pknox1	A	T	17: 31,818,610 (GRCm39)	H281L	probably damaging	Het
Polr3a	A	G	14: 24,502,257 (GRCm39)		probably benign	Het
Prss38	A	G	11: 59,264,006 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,585,416 (GRCm39)	F783S	probably damaging	Het
Rbm5	T	C	9: 107,619,623 (GRCm39)	R125G	probably damaging	Het
Rnpep	A	G	1: 135,200,223 (GRCm39)		probably benign	Het
Slc1a5	T	A	7: 16,527,562 (GRCm39)		probably null	Het
Slc22a4	G	A	11: 53,918,829 (GRCm39)		probably benign	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Spmip5	G	A	19: 58,777,603 (GRCm39)	A61V	probably damaging	Het
Svep1	G	A	4: 58,066,460 (GRCm39)	T3208I	possibly damaging	Het
Tgm5	G	T	2: 120,908,127 (GRCm39)	D16E	probably damaging	Het
Tpp2	A	G	1: 44,010,886 (GRCm39)	N558D	probably benign	Het
Trappc9	A	T	15: 72,835,511 (GRCm39)	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,692,695 (GRCm39)	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,607,316 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,662,433 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,179,099 (GRCm39)	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,216,448 (GRCm39)	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps39	A	G	2: 120,148,534 (GRCm39)	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,485,112 (GRCm39)	D149G	probably benign	Het
Zfp648	C	T	1: 154,081,032 (GRCm39)	T397M	probably damaging	Het
Zic2	C	A	14: 122,716,369 (GRCm39)	T435K	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
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
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'- TGTTCGCTGCTCTCGTAGATGC -3'
(R):5'- ACCTTCTCCTGGTACAAGAGCCAC -3'

Sequencing Primer
(F):5'- TGGGAGACAGCACTATACATTTC -3'
(R):5'- AGCCACCCGTAGGTTTGTAG -3'

Posted On

2013-05-09