Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Dhx35'

481293

Institutional Source

Beutler Lab

Gene Symbol

Dhx35

Ensembl Gene

ENSMUSG00000027655

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 35

Synonyms

1200009D07Rik, Ddx35

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5979 (G1)

Quality Score

200.009

Status

Validated

Chromosome

Chromosomal Location

158794807-158858214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 158842869 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 536 (R536L)

Ref Sequence

ENSEMBL: ENSMUSP00000029186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029186] [ENSMUST00000109478]

AlphaFold

A2ACQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000029186
AA Change: R536L

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029186
Gene: ENSMUSG00000027655
AA Change: R536L

Domain	Start	End	E-Value	Type
DEXDc	55	248	1.17e-18	SMART
HELICc	299	398	8.76e-18	SMART
HA2	458	549	1.49e-27	SMART
Pfam:OB_NTP_bind	628	660	2.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109478
AA Change: R536L

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105104
Gene: ENSMUSG00000027655
AA Change: R536L

Domain	Start	End	E-Value	Type
DEXDc	55	248	1.17e-18	SMART
HELICc	299	398	8.76e-18	SMART
HA2	458	549	1.49e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146797

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543		probably null	Het
Coq10b	T	C	1: 55,052,918	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393		probably null	Het
Dnah8	G	T	17: 30,815,664	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283		probably null	Het
Dst	T	A	1: 34,160,372		probably benign	Het
Ehbp1	C	A	11: 22,151,887	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923		probably null	Het
Gprin1	G	A	13: 54,739,978	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274		probably null	Het
Mroh7	T	C	4: 106,720,926	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250		probably null	Het
Muc2	G	A	7: 141,751,406	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840	H242R	probably damaging	Het
Olfr713	G	A	7: 107,036,336	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Ovch2	G	A	7: 107,794,388	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759		probably benign	Het
Rgl1	A	G	1: 152,557,493	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463	N851K	probably benign	Het
Smox	G	A	2: 131,516,414	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040		probably benign	Het
Zfp213	C	A	17: 23,557,911	E386*	probably null	Het

Other mutations in Dhx35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Dhx35	APN	2	158827916	missense	probably damaging	1.00
IGL01942:Dhx35	APN	2	158831864	missense	probably damaging	1.00
IGL02899:Dhx35	APN	2	158801450	missense	probably damaging	1.00
IGL02927:Dhx35	APN	2	158820416	missense	probably damaging	1.00
IGL03224:Dhx35	APN	2	158857132	utr 3 prime	probably benign
R0112:Dhx35	UTSW	2	158840620	missense	probably damaging	0.99
R0200:Dhx35	UTSW	2	158829623	missense	probably benign
R0609:Dhx35	UTSW	2	158817415	missense	possibly damaging	0.62
R0714:Dhx35	UTSW	2	158844183	missense	probably benign
R0884:Dhx35	UTSW	2	158831711	missense	probably damaging	0.97
R1775:Dhx35	UTSW	2	158806437	missense	probably damaging	1.00
R1912:Dhx35	UTSW	2	158842307	missense	probably damaging	0.96
R2136:Dhx35	UTSW	2	158831861	missense	probably damaging	1.00
R4094:Dhx35	UTSW	2	158842356	missense	probably damaging	1.00
R4364:Dhx35	UTSW	2	158842352	nonsense	probably null
R4421:Dhx35	UTSW	2	158806401	missense	probably damaging	1.00
R4565:Dhx35	UTSW	2	158849535	missense	probably benign	0.01
R5517:Dhx35	UTSW	2	158834912	missense	probably damaging	1.00
R5732:Dhx35	UTSW	2	158831785	missense	probably damaging	0.99
R6054:Dhx35	UTSW	2	158818299	missense	probably benign	0.00
R6405:Dhx35	UTSW	2	158794919	missense	probably damaging	1.00
R6452:Dhx35	UTSW	2	158831687	missense	probably damaging	1.00
R6519:Dhx35	UTSW	2	158831710	missense	probably damaging	0.97
R8700:Dhx35	UTSW	2	158840632	missense	possibly damaging	0.61
R8894:Dhx35	UTSW	2	158834875	missense	possibly damaging	0.77
R8906:Dhx35	UTSW	2	158806998	missense	possibly damaging	0.90
R8960:Dhx35	UTSW	2	158815473	missense	possibly damaging	0.83
R9349:Dhx35	UTSW	2	158829524	missense	possibly damaging	0.94
R9765:Dhx35	UTSW	2	158829581	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTCAAGGGTGGGTCTGAAG -3'
(R):5'- CAGCTGGAGACTGGAATCTC -3'

Sequencing Primer
(F):5'- TGGGTCTGAAGGGAGCTCAG -3'
(R):5'- CTGGTGACCTAGCTACCTGGAAAG -3'

Posted On

2017-06-26