Mutagenetix > Incidental Mutation

Incidental Mutation 'R6054:Dhx35'

484286

Institutional Source

Beutler Lab

Gene Symbol

Dhx35

Ensembl Gene

ENSMUSG00000027655

Gene Name

DEAH-box helicase 35

Synonyms

1200009D07Rik, Ddx35

MMRRC Submission

044222-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6054 (G1)

Quality Score

219.009

Status

Not validated

Chromosome

Chromosomal Location

158636727-158700134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158660219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 184 (Y184N)

Ref Sequence

ENSEMBL: ENSMUSP00000105104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029186] [ENSMUST00000109478] [ENSMUST00000156893]

AlphaFold

A2ACQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000029186
AA Change: Y184N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000029186
Gene: ENSMUSG00000027655
AA Change: Y184N

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: Y184N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105104
Gene: ENSMUSG00000027655
AA Change: Y184N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148359

Predicted Effect

probably benign
Transcript: ENSMUST00000156893

SMART Domains

Protein: ENSMUSP00000119497
Gene: ENSMUSG00000027655

Domain	Start	End	E-Value	Type
PDB:3LLM\|B	7	115	1e-10	PDB
Blast:DEXDc	55	119	5e-37	BLAST
SCOP:d1jpna2	63	115	3e-10	SMART
PDB:3KX2\|A	116	204	1e-10	PDB

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,653,729 (GRCm39)	S93P	unknown	Het
Adam28	T	A	14: 68,879,601 (GRCm39)	N149I	probably benign	Het
Adam4	A	C	12: 81,466,828 (GRCm39)	F598V	probably damaging	Het
Adh5	A	G	3: 138,151,136 (GRCm39)	H33R	possibly damaging	Het
Apoh	A	G	11: 108,286,801 (GRCm39)	N75S	probably damaging	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atm	T	C	9: 53,371,173 (GRCm39)	D2225G	probably damaging	Het
Atp6v0a1	C	T	11: 100,930,715 (GRCm39)	P514L	possibly damaging	Het
Brd9	T	A	13: 74,088,860 (GRCm39)	M195K	probably damaging	Het
Cacna1a	T	G	8: 85,283,414 (GRCm39)	S755A	probably damaging	Het
Ccdc85c	T	A	12: 108,241,028 (GRCm39)	H122L	unknown	Het
Ccs	A	T	19: 4,875,893 (GRCm39)	D192E	probably benign	Het
Cd3e	G	A	9: 44,913,459 (GRCm39)	T92M	possibly damaging	Het
Celsr2	A	G	3: 108,314,279 (GRCm39)	F1249L	possibly damaging	Het
Col16a1	G	A	4: 129,955,515 (GRCm39)		probably benign	Het
Col17a1	A	G	19: 47,668,859 (GRCm39)	Y122H	probably damaging	Het
Col28a1	G	A	6: 8,083,748 (GRCm39)	P570S	possibly damaging	Het
Dchs2	A	T	3: 83,253,543 (GRCm39)	I2318L	probably benign	Het
Dmxl1	T	G	18: 49,990,453 (GRCm39)	N297K	probably benign	Het
Dsp	G	A	13: 38,351,585 (GRCm39)	G135S	probably benign	Het
Efhb	C	T	17: 53,706,027 (GRCm39)	V837I	possibly damaging	Het
Efs	C	T	14: 55,158,614 (GRCm39)	D15N	probably damaging	Het
Fbxl19	C	T	7: 127,351,681 (GRCm39)	T314I	probably damaging	Het
Gm11595	A	T	11: 99,663,474 (GRCm39)	C69S	unknown	Het
Grxcr2	A	G	18: 42,119,743 (GRCm39)	V199A	probably benign	Het
Hadha	T	C	5: 30,328,682 (GRCm39)	E468G	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hps1	A	T	19: 42,759,217 (GRCm39)	V125E	probably damaging	Het
Hrg	A	T	16: 22,772,412 (GRCm39)	T74S	probably benign	Het
Idh3a	T	C	9: 54,493,829 (GRCm39)		probably null	Het
Leng8	C	A	7: 4,148,522 (GRCm39)		probably null	Het
Maml2	TCAGCAGCAGCAGCAGCAGC	TCAGCAGCAGCAGCAGC	9: 13,532,695 (GRCm39)		probably benign	Het
Mctp2	T	C	7: 71,908,851 (GRCm39)	H154R	probably benign	Het
Megf6	A	G	4: 154,347,636 (GRCm39)	E777G	probably benign	Het
Miip	A	G	4: 147,950,135 (GRCm39)	S154P	probably benign	Het
Mprip	T	C	11: 59,649,251 (GRCm39)	V985A	probably benign	Het
Nmrk2	G	A	10: 81,035,468 (GRCm39)	R158W	probably damaging	Het
Nsd2	T	C	5: 34,039,505 (GRCm39)	S180P	probably damaging	Het
Oga	A	G	19: 45,764,571 (GRCm39)	S190P	probably damaging	Het
Opa1	T	G	16: 29,433,952 (GRCm39)	S596A	probably damaging	Het
Or1ad1	G	A	11: 50,875,631 (GRCm39)	M34I	probably benign	Het
Or51b4	A	G	7: 103,531,033 (GRCm39)	V139A	probably damaging	Het
Pcdha2	A	G	18: 37,073,857 (GRCm39)	E496G	probably damaging	Het
Pcdhb5	T	G	18: 37,454,133 (GRCm39)	V171G	probably damaging	Het
Pramel6	A	G	2: 87,339,003 (GRCm39)	T68A	probably benign	Het
Ptprq	T	C	10: 107,418,219 (GRCm39)	Y1719C	probably damaging	Het
Pzp	T	C	6: 128,490,727 (GRCm39)	N412S	probably benign	Het
Rb1cc1	G	T	1: 6,320,058 (GRCm39)	R1159L	probably benign	Het
Rev3l	T	A	10: 39,700,146 (GRCm39)	S1548T	probably benign	Het
Rora	A	G	9: 69,286,084 (GRCm39)	I471M	probably benign	Het
Scube1	C	A	15: 83,535,877 (GRCm39)	V266L	probably benign	Het
Sema6a	C	T	18: 47,416,470 (GRCm39)	D386N	possibly damaging	Het
Siglecf	T	A	7: 43,004,430 (GRCm39)	L253Q	probably damaging	Het
Spata31d1b	A	G	13: 59,863,464 (GRCm39)	H204R	probably benign	Het
Syt17	T	C	7: 118,007,356 (GRCm39)	T313A	possibly damaging	Het
Tbc1d32	T	C	10: 56,038,304 (GRCm39)	T578A	possibly damaging	Het
Trpm1	A	G	7: 63,918,450 (GRCm39)	S597G	probably benign	Het
Vmn2r9	T	A	5: 108,996,126 (GRCm39)	H174L	probably damaging	Het
Vrk2	A	T	11: 26,436,975 (GRCm39)	S281T	probably benign	Het
Wdr48	A	G	9: 119,736,843 (GRCm39)	D22G	probably damaging	Het
Zfp408	C	A	2: 91,479,636 (GRCm39)	V61L	probably benign	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	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
R4094:Dhx35	UTSW	2	158,684,276 (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
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'- GTGTAGGCCTGACATCATCG -3'
(R):5'- CTGTGTCAAAACATATACACAGGGAG -3'

Sequencing Primer
(F):5'- CATCATCGGCAGAGATTGACTTCG -3'
(R):5'- AACAACCTCCGGCTCGTG -3'

Posted On

2017-07-14