Mutagenetix > Incidental Mutation

Incidental Mutation 'R8906:Dhx35'

680088

Institutional Source

Beutler Lab

Gene Symbol

Dhx35

Ensembl Gene

ENSMUSG00000027655

Gene Name

DEAH-box helicase 35

Synonyms

1200009D07Rik, Ddx35

MMRRC Submission

068699-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8906 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158636727-158700134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 158648918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 115 (T115A)

Ref Sequence

ENSEMBL: ENSMUSP00000119497 (fasta)

Gene Model

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

AlphaFold

A2ACQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029186
AA Change: T115A

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029186
Gene: ENSMUSG00000027655
AA Change: T115A

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: T115A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105104
Gene: ENSMUSG00000027655
AA Change: T115A

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

possibly damaging
Transcript: ENSMUST00000156893
AA Change: T115A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119497
Gene: ENSMUSG00000027655
AA Change: T115A

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

Meta Mutation Damage Score

0.1674

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	C	19: 3,766,686 (GRCm39)	N91T	possibly damaging	Het
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,472,148 (GRCm39)		probably null	Het
4932414N04Rik	A	G	2: 68,562,498 (GRCm39)	D375G	possibly damaging	Het
Adad2	C	A	8: 120,339,725 (GRCm39)	P69Q	probably benign	Het
Adamts3	G	A	5: 89,825,575 (GRCm39)	T1088I	probably damaging	Het
Ank2	A	G	3: 126,726,720 (GRCm39)	V858A	probably benign	Het
Ankrd13a	A	G	5: 114,939,798 (GRCm39)	N475S	probably benign	Het
Barhl2	G	A	5: 106,603,352 (GRCm39)	T269I	probably benign	Het
Boc	G	A	16: 44,323,931 (GRCm39)	R157W		Het
Bsn	G	T	9: 107,984,752 (GRCm39)	P3101T	unknown	Het
Catsperb	C	A	12: 101,486,904 (GRCm39)	A477E	possibly damaging	Het
Ccser1	T	A	6: 61,787,842 (GRCm39)	I220K	probably benign	Het
Cd200r3	A	T	16: 44,778,102 (GRCm39)	I242F	possibly damaging	Het
Cdc34b	A	C	11: 94,632,911 (GRCm39)	D37A	probably damaging	Het
Chek2	A	G	5: 111,013,458 (GRCm39)		probably benign	Het
Cngb1	A	T	8: 95,989,736 (GRCm39)	V792D	probably damaging	Het
Cops7a	T	C	6: 124,939,371 (GRCm39)	K93E	possibly damaging	Het
Crispld1	T	C	1: 17,820,995 (GRCm39)	I345T	possibly damaging	Het
Dgkd	A	G	1: 87,869,157 (GRCm39)	D1170G	probably damaging	Het
Dnai1	G	A	4: 41,625,125 (GRCm39)	R363H	probably benign	Het
Dnmbp	T	A	19: 43,878,681 (GRCm39)	Q130L	probably benign	Het
Egfr	A	G	11: 16,861,635 (GRCm39)	Y1138C	probably damaging	Het
Elf3	A	T	1: 135,182,678 (GRCm39)	L329Q	probably damaging	Het
Enkur	A	G	2: 21,201,568 (GRCm39)	M39T	probably benign	Het
Epha7	T	C	4: 28,821,615 (GRCm39)	I260T	probably damaging	Het
Fbxo28	A	T	1: 182,144,634 (GRCm39)	I310K	probably damaging	Het
Fga	C	A	3: 82,939,111 (GRCm39)	N495K	probably benign	Het
Galnt6	T	C	15: 100,601,247 (GRCm39)	D344G	probably damaging	Het
Gm572	A	G	4: 148,751,290 (GRCm39)	Q221R	probably benign	Het
Gpa33	G	A	1: 165,974,216 (GRCm39)	A18T	probably benign	Het
Gpatch11	C	T	17: 79,145,289 (GRCm39)	T6I	probably benign	Het
Gpr84	T	A	15: 103,217,625 (GRCm39)	S151C	probably damaging	Het
H2-M11	T	A	17: 36,859,851 (GRCm39)	Y281*	probably null	Het
Hadh	T	C	3: 131,038,891 (GRCm39)	N155S	probably benign	Het
Hoxd13	A	G	2: 74,500,266 (GRCm39)	Y269C		Het
Iars1	T	A	13: 49,882,177 (GRCm39)	C1074S	probably benign	Het
Ibtk	G	T	9: 85,625,457 (GRCm39)	H98N	possibly damaging	Het
Igsf10	C	T	3: 59,233,739 (GRCm39)	G1665R	probably benign	Het
Inpp5d	A	G	1: 87,625,337 (GRCm39)		probably benign	Het
Ipo9	A	C	1: 135,321,951 (GRCm39)	V593G	probably damaging	Het
Irx3	T	C	8: 92,526,915 (GRCm39)	D263G	possibly damaging	Het
Kif13a	A	G	13: 46,927,154 (GRCm39)	V1179A	probably benign	Het
Lrrc4c	T	C	2: 97,460,393 (GRCm39)	Y340H	probably benign	Het
Lysmd1	A	G	3: 95,045,219 (GRCm39)	D155G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Mob2	A	T	7: 141,563,261 (GRCm39)	L66Q	probably damaging	Het
Myh1	A	G	11: 67,096,739 (GRCm39)	S337G	probably benign	Het
Neb	T	C	2: 52,096,259 (GRCm39)	D1002G	probably benign	Het
Nebl	A	T	2: 17,382,928 (GRCm39)	N116K	probably benign	Het
Nkx2-6	T	C	14: 69,412,623 (GRCm39)	S264P	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nlrp4e	A	G	7: 23,020,556 (GRCm39)	T348A	possibly damaging	Het
Nomo1	A	T	7: 45,722,004 (GRCm39)	I982F	probably benign	Het
Or10j5	A	G	1: 172,784,186 (GRCm39)		probably benign	Het
Or11g24	T	G	14: 50,662,291 (GRCm39)	F105C	probably damaging	Het
Or1j19	A	T	2: 36,676,621 (GRCm39)	Y28F	probably benign	Het
Or8g22	A	G	9: 38,958,077 (GRCm39)	F213L	possibly damaging	Het
Palld	A	G	8: 62,003,198 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,879,154 (GRCm39)	Y903C	probably damaging	Het
Pknox2	G	A	9: 36,804,167 (GRCm39)	T460M	possibly damaging	Het
Ppm1h	C	T	10: 122,714,451 (GRCm39)	T330I	probably damaging	Het
Ppp2r2b	C	T	18: 42,821,399 (GRCm39)	R253H	probably damaging	Het
Pramel58	G	T	5: 94,831,413 (GRCm39)	R140L	possibly damaging	Het
Prr18	G	A	17: 8,560,476 (GRCm39)	A211T	probably benign	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Rara	G	T	11: 98,860,989 (GRCm39)	R159L	probably damaging	Het
Rasa4	T	A	5: 136,133,446 (GRCm39)	I635N	probably benign	Het
Rxfp2	A	T	5: 149,989,888 (GRCm39)	H423L	possibly damaging	Het
Scn4b	A	G	9: 45,059,169 (GRCm39)	I147V	possibly damaging	Het
Scrn3	G	A	2: 73,161,352 (GRCm39)	V313I	probably benign	Het
Scrn3	C	A	2: 73,161,355 (GRCm39)	P314T	possibly damaging	Het
Sh2b1	A	G	7: 126,070,292 (GRCm39)		probably null	Het
Slc26a10	T	C	10: 127,016,459 (GRCm39)	Q3R	probably benign	Het
Slitrk1	A	G	14: 109,149,139 (GRCm39)	I524T	probably damaging	Het
Smcp	T	A	3: 92,491,530 (GRCm39)	N106Y	unknown	Het
Spata31h1	T	C	10: 82,122,379 (GRCm39)	T3544A	probably benign	Het
St8sia5	G	A	18: 77,336,172 (GRCm39)	V202M	probably damaging	Het
Stxbp5l	A	T	16: 37,028,526 (GRCm39)	D512E	probably damaging	Het
Tas1r2	A	G	4: 139,397,046 (GRCm39)	E795G	probably damaging	Het
Tdrd1	T	A	19: 56,831,145 (GRCm39)	V320D	probably damaging	Het
Tmem71	T	A	15: 66,404,606 (GRCm39)	I261L	probably benign	Het
Tns2	T	C	15: 102,020,039 (GRCm39)	L643P	probably damaging	Het
Upf1	G	A	8: 70,786,815 (GRCm39)	Q890*	probably null	Het
Usp43	A	T	11: 67,782,307 (GRCm39)	H370Q	possibly damaging	Het
Vmn1r236	T	A	17: 21,507,356 (GRCm39)	I158N	possibly damaging	Het
Vmn2r98	T	A	17: 19,286,532 (GRCm39)	N343K	probably benign	Het
Vwa8	T	C	14: 79,329,815 (GRCm39)	S1216P	probably benign	Het
Yars1	A	C	4: 129,090,747 (GRCm39)	D97A	probably damaging	Het
Zer1	G	A	2: 30,001,035 (GRCm39)	H129Y	probably benign	Het
Zfat	C	T	15: 67,956,404 (GRCm39)	D1143N	possibly 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
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
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
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'- TTGGTGACTTCGCACAGTG -3'
(R):5'- TGGCAGATCTGGGCTTTAAAC -3'

Sequencing Primer
(F):5'- TGACTTCGCACAGTGCAGGG -3'
(R):5'- CTCCCTAAGCACTTTACTACTAAAAG -3'

Posted On

2021-08-31