Mutagenetix > Incidental Mutation

Incidental Mutation 'R6519:Dhx35'

520952

Institutional Source

Beutler Lab

Gene Symbol

Dhx35

Ensembl Gene

ENSMUSG00000027655

Gene Name

DEAH-box helicase 35

Synonyms

1200009D07Rik, Ddx35

MMRRC Submission

044646-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158636727-158700134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 158673630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 354 (I354F)

Ref Sequence

ENSEMBL: ENSMUSP00000029186 (fasta)

Gene Model

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

AlphaFold

A2ACQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029186
AA Change: I354F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029186
Gene: ENSMUSG00000027655
AA Change: I354F

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

possibly damaging
Transcript: ENSMUST00000109478
AA Change: I354F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105104
Gene: ENSMUSG00000027655
AA Change: I354F

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157070

Meta Mutation Damage Score

0.8823

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.7%

Validation Efficiency

97% (58/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,495,723 (GRCm39)	I53T	probably damaging	Het
Adgrv1	C	T	13: 81,715,462 (GRCm39)	D909N	probably benign	Het
Ahdc1	T	C	4: 132,792,079 (GRCm39)	Y1107H	possibly damaging	Het
Aldob	A	T	4: 49,543,835 (GRCm39)	V49E	probably damaging	Het
Apol6	T	A	15: 76,935,476 (GRCm39)	Y248*	probably null	Het
Apol7b	T	A	15: 77,307,548 (GRCm39)	T316S	probably benign	Het
Atp13a2	G	C	4: 140,728,165 (GRCm39)	R503P	possibly damaging	Het
Brca2	A	C	5: 150,464,444 (GRCm39)	T1403P	probably damaging	Het
Cblc	T	C	7: 19,526,788 (GRCm39)	Y148C	probably damaging	Het
Cct7	C	A	6: 85,439,132 (GRCm39)	Q149K	probably benign	Het
Cd53	T	A	3: 106,669,461 (GRCm39)	H179L	probably benign	Het
Cyp2b19	A	G	7: 26,458,536 (GRCm39)	T84A	probably benign	Het
Cyp3a41a	A	G	5: 145,652,308 (GRCm39)	C64R	probably damaging	Het
Dclre1c	T	C	2: 3,430,366 (GRCm39)	Y75H	probably damaging	Het
Diaph3	T	C	14: 87,203,771 (GRCm39)	N629S	probably damaging	Het
Dnase1	A	T	16: 3,856,453 (GRCm39)	S132C	probably damaging	Het
Dnttip2	T	C	3: 122,069,120 (GRCm39)	S112P	probably benign	Het
Eif4g3	C	A	4: 137,721,319 (GRCm39)	P48T	probably benign	Het
Fat4	A	T	3: 39,057,020 (GRCm39)	T4239S	probably benign	Het
Fbn2	A	G	18: 58,196,647 (GRCm39)	V1419A	possibly damaging	Het
Ghitm	A	C	14: 36,847,204 (GRCm39)	M290R	probably damaging	Het
Glb1l	T	C	1: 75,177,700 (GRCm39)	D406G	probably benign	Het
Glipr1l1	C	A	10: 111,898,153 (GRCm39)	A86D	probably benign	Het
Golm2	T	C	2: 121,737,218 (GRCm39)	V141A	probably benign	Het
Grm7	C	T	6: 111,184,713 (GRCm39)	A348V	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hdac2	T	A	10: 36,865,252 (GRCm39)	N155K	probably damaging	Het
Hus1b	A	G	13: 31,130,930 (GRCm39)	I243T	probably benign	Het
Kcnab2	T	C	4: 152,496,450 (GRCm39)	T65A	probably damaging	Het
Lasp1	T	A	11: 97,706,383 (GRCm39)		probably null	Het
Lrch3	G	A	16: 32,815,367 (GRCm39)		probably benign	Het
Ltb4r2	C	T	14: 56,000,438 (GRCm39)	T353M	probably benign	Het
Macf1	A	G	4: 123,366,118 (GRCm39)	M1316T	probably benign	Het
Msr1	G	A	8: 40,077,262 (GRCm39)	T116I	probably benign	Het
Nlrp5	A	G	7: 23,117,343 (GRCm39)	I356V	probably benign	Het
Npy	C	T	6: 49,800,669 (GRCm39)	S31F	possibly damaging	Het
Nsd3	C	T	8: 26,152,955 (GRCm39)	P432S	probably damaging	Het
Nup160	A	C	2: 90,548,561 (GRCm39)	R1037S	probably damaging	Het
Or12j4	T	A	7: 140,046,458 (GRCm39)	S115T	probably benign	Het
Or4b1d	A	T	2: 89,969,156 (GRCm39)	I109N	possibly damaging	Het
Or8s5	C	T	15: 98,237,929 (GRCm39)	G314R	probably benign	Het
Pcx	A	G	19: 4,652,239 (GRCm39)	E108G	possibly damaging	Het
Pecam1	A	T	11: 106,590,468 (GRCm39)	M102K	probably benign	Het
Pgd	G	T	4: 149,235,343 (GRCm39)	Y433*	probably null	Het
Pkd1l3	A	G	8: 110,355,404 (GRCm39)	E744G	probably benign	Het
Rb1	A	G	14: 73,535,503 (GRCm39)	I118T	probably benign	Het
Rdh11	T	A	12: 79,229,589 (GRCm39)	H228L	probably damaging	Het
Rnf44	C	T	13: 54,829,599 (GRCm39)	R340Q	probably damaging	Het
Rtraf	A	G	14: 19,869,998 (GRCm39)	V88A	possibly damaging	Het
Sigmar1	T	C	4: 41,739,380 (GRCm39)	T185A	possibly damaging	Het
Thsd1	A	G	8: 22,749,081 (GRCm39)	R590G	probably damaging	Het
Trappc14	A	G	5: 138,260,110 (GRCm39)	S344P	probably damaging	Het
Trbv19	T	C	6: 41,155,573 (GRCm39)		probably benign	Het
Txnrd3	T	C	6: 89,631,405 (GRCm39)		probably null	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xpnpep1	T	C	19: 53,000,275 (GRCm39)	N192D	possibly damaging	Het
Zfp955b	T	A	17: 33,521,051 (GRCm39)	S173R	possibly damaging	Het
Zranb1	T	A	7: 132,551,857 (GRCm39)	C195*	probably null	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
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
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'- TGCATGAGAAAGCAGTGCTC -3'
(R):5'- ACACCATACATACCTGTGTAAAGGC -3'

Sequencing Primer
(F):5'- AACATTTCCGGCCAGTGTG -3'
(R):5'- GTGTAAAGGCGATAACACTTTCCCG -3'

Posted On

2018-06-06