Mutagenetix > Incidental Mutation

Incidental Mutation 'R1582:Ddx25'

171479

Institutional Source

Beutler Lab

Gene Symbol

Ddx25

Ensembl Gene

ENSMUSG00000032101

Gene Name

DEAD box helicase 25

Synonyms

DEAD (Asp-Glu-Ala-Asp) box polypeptide 25, GRTH

MMRRC Submission

039619-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

R1582 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

35453144-35469766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35457272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 348 (T348A)

Ref Sequence

ENSEMBL: ENSMUSP00000034612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034612]

AlphaFold

Q9QY15

Predicted Effect

probably damaging
Transcript: ENSMUST00000034612
AA Change: T348A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034612
Gene: ENSMUSG00000032101
AA Change: T348A

Domain	Start	End	E-Value	Type
low complexity region	50	61	N/A	INTRINSIC
low complexity region	101	111	N/A	INTRINSIC
DEXDc	117	316	1.26e-41	SMART
HELICc	353	440	6.18e-27	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.6%

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. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility, arrest of spermatogenesis at step 8, abnormal Leydig cells, and increased germ cell apoptosis in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	G	2: 31,690,371 (GRCm39)	A630G	probably damaging	Het
Actr3	A	G	1: 125,333,662 (GRCm39)	Y202H	probably benign	Het
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Atl3	A	G	19: 7,494,264 (GRCm39)	T138A	probably damaging	Het
Bpifa2	T	C	2: 153,855,638 (GRCm39)	S188P	probably damaging	Het
Bsn	T	C	9: 107,982,291 (GRCm39)	T3821A	unknown	Het
Dcun1d2	A	G	8: 13,330,926 (GRCm39)	L68P	probably damaging	Het
Ddhd1	A	T	14: 45,842,566 (GRCm39)	L630I	probably damaging	Het
Dtnb	C	T	12: 3,823,554 (GRCm39)	T580M	possibly damaging	Het
Dysf	A	G	6: 84,074,749 (GRCm39)	S561G	probably damaging	Het
Ehbp1l1	A	G	19: 5,771,995 (GRCm39)	I101T	possibly damaging	Het
Erich3	T	C	3: 154,469,960 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	T	C	1: 24,068,398 (GRCm39)	T611A	probably damaging	Het
Gpbp1	T	C	13: 111,573,066 (GRCm39)		probably null	Het
H2-Oa	A	T	17: 34,313,695 (GRCm39)	T218S	probably damaging	Het
Kctd19	G	A	8: 106,122,092 (GRCm39)	L152F	probably damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Kif13a	A	G	13: 46,947,398 (GRCm39)	V862A	probably benign	Het
Lct	T	C	1: 128,228,299 (GRCm39)	T1065A	probably damaging	Het
Mark3	G	A	12: 111,621,744 (GRCm39)	A697T	probably benign	Het
Mosmo	A	G	7: 120,329,728 (GRCm39)	I116M	possibly damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc15	A	T	2: 110,567,817 (GRCm39)	M321L	probably benign	Het
Naa25	T	A	5: 121,572,892 (GRCm39)	N670K	probably benign	Het
Or1e1c	T	A	11: 73,266,090 (GRCm39)	C172S	probably damaging	Het
Or5e1	G	T	7: 108,354,317 (GRCm39)	V85L	probably benign	Het
Or6z3	A	G	7: 6,463,813 (GRCm39)	M102V	probably benign	Het
Ppara	T	C	15: 85,682,429 (GRCm39)	I375T	possibly damaging	Het
Prss27	A	G	17: 24,263,877 (GRCm39)	I188V	probably benign	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Relt	C	T	7: 100,500,560 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Smarca2	G	A	19: 26,729,305 (GRCm39)	D19N	probably damaging	Het
Sorbs2	G	A	8: 46,258,814 (GRCm39)	G620D	probably damaging	Het
Spata31d1c	C	A	13: 65,181,038 (GRCm39)	Q46K	probably benign	Het
Spata6	C	G	4: 111,637,992 (GRCm39)	S274*	probably null	Het
Spata6	C	T	4: 111,637,994 (GRCm39)	P275S	probably benign	Het
Tas2r108	T	A	6: 40,470,566 (GRCm39)	V14D	probably benign	Het
Thbs2	G	T	17: 14,891,550 (GRCm39)	P996T	probably damaging	Het
Tmem131l	T	C	3: 83,839,090 (GRCm39)	Q620R	probably damaging	Het
Ubap2l	A	G	3: 89,941,978 (GRCm39)	S203P	probably damaging	Het
Unc45b	G	A	11: 82,816,771 (GRCm39)	G404S	probably benign	Het
Uri1	A	G	7: 37,664,811 (GRCm39)	S292P	possibly damaging	Het
Usp21	A	T	1: 171,110,655 (GRCm39)	C444S	probably damaging	Het
Vmn1r117	A	T	7: 20,617,484 (GRCm39)	V188D	possibly damaging	Het
Vmn1r7	T	C	6: 57,002,143 (GRCm39)	D39G	probably damaging	Het
Wdr25	T	C	12: 108,863,980 (GRCm39)	F42L	possibly damaging	Het

Other mutations in Ddx25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ddx25	APN	9	35,454,891 (GRCm39)	splice site	probably benign
IGL00951:Ddx25	APN	9	35,464,131 (GRCm39)	critical splice donor site	probably null
IGL02237:Ddx25	APN	9	35,453,365 (GRCm39)	splice site	probably benign
IGL02270:Ddx25	APN	9	35,465,708 (GRCm39)	splice site	probably benign
IGL02273:Ddx25	APN	9	35,458,122 (GRCm39)	missense	possibly damaging	0.95
IGL02325:Ddx25	APN	9	35,465,804 (GRCm39)	unclassified	probably benign
IGL02422:Ddx25	APN	9	35,462,660 (GRCm39)	missense	probably null	1.00
IGL02440:Ddx25	APN	9	35,468,974 (GRCm39)	unclassified	probably benign
IGL02798:Ddx25	APN	9	35,462,693 (GRCm39)	missense	probably damaging	1.00
IGL03339:Ddx25	APN	9	35,453,299 (GRCm39)	missense	probably damaging	1.00
R0633:Ddx25	UTSW	9	35,457,268 (GRCm39)	missense	probably damaging	0.99
R0893:Ddx25	UTSW	9	35,465,686 (GRCm39)	nonsense	probably null
R1171:Ddx25	UTSW	9	35,458,142 (GRCm39)	nonsense	probably null
R1448:Ddx25	UTSW	9	35,469,034 (GRCm39)	missense	probably benign
R1453:Ddx25	UTSW	9	35,453,298 (GRCm39)	missense	probably damaging	1.00
R3055:Ddx25	UTSW	9	35,462,647 (GRCm39)	missense	probably damaging	1.00
R5960:Ddx25	UTSW	9	35,465,807 (GRCm39)	splice site	probably null
R7425:Ddx25	UTSW	9	35,465,882 (GRCm39)	missense	probably benign	0.08
R7535:Ddx25	UTSW	9	35,454,951 (GRCm39)	missense	possibly damaging	0.89
R7610:Ddx25	UTSW	9	35,465,893 (GRCm39)	missense	possibly damaging	0.90
R8758:Ddx25	UTSW	9	35,453,300 (GRCm39)	missense	probably benign
R8931:Ddx25	UTSW	9	35,465,864 (GRCm39)	missense	possibly damaging	0.85
R8984:Ddx25	UTSW	9	35,468,685 (GRCm39)	missense	probably benign
R9103:Ddx25	UTSW	9	35,458,085 (GRCm39)	missense	probably benign	0.24
R9585:Ddx25	UTSW	9	35,455,009 (GRCm39)	nonsense	probably null
R9759:Ddx25	UTSW	9	35,457,265 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAACGCCCAGCTTTGACATAC -3'
(R):5'- AAGGTCAGCTCTGCTCCAGGATAG -3'

Sequencing Primer
(F):5'- TCTGAATGATGGAAGCTCGC -3'
(R):5'- gaggaggaggaggtggaag -3'

Posted On

2014-04-13