Mutagenetix > Incidental Mutation

Incidental Mutation 'R4094:Dhx35'

317780

Institutional Source

Beutler Lab

Gene Symbol

Dhx35

Ensembl Gene

ENSMUSG00000027655

Gene Name

DEAH-box helicase 35

Synonyms

1200009D07Rik, Ddx35

MMRRC Submission

041628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4094 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

158636727-158700134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158684276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 517 (I517N)

Ref Sequence

ENSEMBL: ENSMUSP00000029186 (fasta)

Gene Model

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

AlphaFold

A2ACQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029186
AA Change: I517N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029186
Gene: ENSMUSG00000027655
AA Change: I517N

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 damaging
Transcript: ENSMUST00000109478
AA Change: I517N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105104
Gene: ENSMUSG00000027655
AA Change: I517N

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: 99.2%
3x: 98.6%
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.] 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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,071,192 (GRCm39)	C1500R	probably damaging	Het
Amz1	A	T	5: 140,737,921 (GRCm39)	M93L	probably damaging	Het
Asb18	A	T	1: 89,942,147 (GRCm39)	N51K	probably damaging	Het
Bcl11b	G	T	12: 107,883,094 (GRCm39)	P335Q	probably damaging	Het
Bsn	A	C	9: 107,991,069 (GRCm39)	V1561G	probably damaging	Het
Cadm2	A	T	16: 66,679,685 (GRCm39)	N49K	probably damaging	Het
Cct8	T	G	16: 87,284,516 (GRCm39)	I283L	possibly damaging	Het
Cdc25b	A	G	2: 131,031,037 (GRCm39)	M121V	probably benign	Het
Cpne4	A	G	9: 104,563,734 (GRCm39)	D37G	probably damaging	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
Ehf	T	C	2: 103,121,095 (GRCm39)		probably benign	Het
Erp29	A	G	5: 121,590,345 (GRCm39)		probably benign	Het
Fgd6	C	A	10: 93,879,296 (GRCm39)	P50Q	probably damaging	Het
Fhip1b	T	C	7: 105,037,425 (GRCm39)	D386G	probably damaging	Het
Foxn3	G	T	12: 99,162,700 (GRCm39)	D400E	probably damaging	Het
Frmd4a	A	G	2: 4,615,843 (GRCm39)	Y1031C	probably damaging	Het
Gna13	T	A	11: 109,287,242 (GRCm39)	I355N	probably damaging	Het
Hgs	T	A	11: 120,359,859 (GRCm39)	L21*	probably null	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Itga2	T	C	13: 115,007,161 (GRCm39)	D389G	probably benign	Het
Kdm1b	T	C	13: 47,216,496 (GRCm39)	C289R	probably damaging	Het
Kdm4c	T	A	4: 74,229,915 (GRCm39)	D237E	probably benign	Het
Lilrb4b	A	T	10: 51,357,506 (GRCm39)	E114V	probably damaging	Het
Loxl1	G	A	9: 58,219,739 (GRCm39)	T144I	probably damaging	Het
Macf1	C	T	4: 123,353,062 (GRCm39)	R1784Q	probably benign	Het
Maml2	G	A	9: 13,531,449 (GRCm39)	S221N	probably benign	Het
Map3k1	A	G	13: 111,892,696 (GRCm39)	M853T	possibly damaging	Het
Micu3	T	G	8: 40,788,929 (GRCm39)	S147A	probably null	Het
Nccrp1	T	C	7: 28,243,651 (GRCm39)	Y261C	possibly damaging	Het
Or51aa5	T	A	7: 103,167,244 (GRCm39)	I116F	possibly damaging	Het
Or5m5	A	G	2: 85,814,562 (GRCm39)	Y126C	probably damaging	Het
Or8k18	T	C	2: 86,085,674 (GRCm39)	D121G	probably damaging	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Pclo	C	A	5: 14,905,659 (GRCm39)	T4963N	unknown	Het
Pdxk	T	C	10: 78,300,644 (GRCm39)	H13R	probably damaging	Het
Plcg1	A	G	2: 160,589,761 (GRCm39)	E95G	probably damaging	Het
Ppargc1a	T	C	5: 51,647,406 (GRCm39)	N276S	possibly damaging	Het
Prr12	A	G	7: 44,697,371 (GRCm39)	L848P	unknown	Het
Ptcd2	A	G	13: 99,468,957 (GRCm39)	I202T	probably damaging	Het
Rab27a	A	C	9: 72,982,826 (GRCm39)	I44L	probably damaging	Het
Rbfox2	A	T	15: 77,016,925 (GRCm39)	S82T	probably damaging	Het
Rsbn1	T	A	3: 103,835,974 (GRCm39)	F337L	probably damaging	Het
Samd8	T	C	14: 21,843,113 (GRCm39)	I414T	probably damaging	Het
Sema3e	A	G	5: 14,283,704 (GRCm39)	I478V	probably benign	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc2a3	A	T	6: 122,712,527 (GRCm39)	I239N	probably benign	Het
Spc25	G	A	2: 69,032,975 (GRCm39)	S50L	probably damaging	Het
St8sia4	A	T	1: 95,555,411 (GRCm39)	S206R	possibly damaging	Het
Syngr3	G	A	17: 24,908,817 (GRCm39)		probably benign	Het
Tigd4	A	G	3: 84,501,947 (GRCm39)	D288G	probably damaging	Het
Trim34b	A	G	7: 103,983,795 (GRCm39)	M251V	probably benign	Het
Ttll5	A	T	12: 86,003,376 (GRCm39)	R214*	probably null	Het
Ttn	T	C	2: 76,730,860 (GRCm39)		probably benign	Het
Vmp1	A	G	11: 86,534,406 (GRCm39)	I167T	probably benign	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het
Zscan4f	A	T	7: 11,135,185 (GRCm39)	N197I	probably damaging	Het

Other mutations in Dhx35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Dhx35	APN	2	158,669,836 (GRCm39)	missense	probably damaging	1.00
IGL01942:Dhx35	APN	2	158,673,784 (GRCm39)	missense	probably damaging	1.00
IGL02899:Dhx35	APN	2	158,643,370 (GRCm39)	missense	probably damaging	1.00
IGL02927:Dhx35	APN	2	158,662,336 (GRCm39)	missense	probably damaging	1.00
IGL03224:Dhx35	APN	2	158,699,052 (GRCm39)	utr 3 prime	probably benign
R0112:Dhx35	UTSW	2	158,682,540 (GRCm39)	missense	probably damaging	0.99
R0200:Dhx35	UTSW	2	158,671,543 (GRCm39)	missense	probably benign
R0609:Dhx35	UTSW	2	158,659,335 (GRCm39)	missense	possibly damaging	0.62
R0714:Dhx35	UTSW	2	158,686,103 (GRCm39)	missense	probably benign
R0884:Dhx35	UTSW	2	158,673,631 (GRCm39)	missense	probably damaging	0.97
R1775:Dhx35	UTSW	2	158,648,357 (GRCm39)	missense	probably damaging	1.00
R1912:Dhx35	UTSW	2	158,684,227 (GRCm39)	missense	probably damaging	0.96
R2136:Dhx35	UTSW	2	158,673,781 (GRCm39)	missense	probably damaging	1.00
R4364:Dhx35	UTSW	2	158,684,272 (GRCm39)	nonsense	probably null
R4421:Dhx35	UTSW	2	158,648,321 (GRCm39)	missense	probably damaging	1.00
R4565:Dhx35	UTSW	2	158,691,455 (GRCm39)	missense	probably benign	0.01
R5517:Dhx35	UTSW	2	158,676,832 (GRCm39)	missense	probably damaging	1.00
R5732:Dhx35	UTSW	2	158,673,705 (GRCm39)	missense	probably damaging	0.99
R5979:Dhx35	UTSW	2	158,684,789 (GRCm39)	missense	probably benign	0.29
R6054:Dhx35	UTSW	2	158,660,219 (GRCm39)	missense	probably benign	0.00
R6405:Dhx35	UTSW	2	158,636,839 (GRCm39)	missense	probably damaging	1.00
R6452:Dhx35	UTSW	2	158,673,607 (GRCm39)	missense	probably damaging	1.00
R6519:Dhx35	UTSW	2	158,673,630 (GRCm39)	missense	probably damaging	0.97
R8700:Dhx35	UTSW	2	158,682,552 (GRCm39)	missense	possibly damaging	0.61
R8894:Dhx35	UTSW	2	158,676,795 (GRCm39)	missense	possibly damaging	0.77
R8906:Dhx35	UTSW	2	158,648,918 (GRCm39)	missense	possibly damaging	0.90
R8960:Dhx35	UTSW	2	158,657,393 (GRCm39)	missense	possibly damaging	0.83
R9349:Dhx35	UTSW	2	158,671,444 (GRCm39)	missense	possibly damaging	0.94
R9765:Dhx35	UTSW	2	158,671,501 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAATCCGTGGCACCATAAGTTC -3'
(R):5'- GTATACTTCCCATGAGACACAGC -3'

Sequencing Primer
(F):5'- CGTGGCACCATAAGTTCTTATATATG -3'
(R):5'- GCAGACCCACTCAAGTGCAAG -3'

Posted On

2015-05-15