Mutagenetix > Incidental Mutation

Incidental Mutation 'R7535:Ddx25'

583523

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

045607-MU

Accession Numbers

Essential gene?

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

Stock #

R7535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35453144-35469766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35454951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 446 (F446L)

Ref Sequence

ENSEMBL: ENSMUSP00000034612 (fasta)

Gene Model

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

AlphaFold

Q9QY15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034612
AA Change: F446L

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034612
Gene: ENSMUSG00000032101
AA Change: F446L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,837,463 (GRCm39)	L449Q	probably benign	Het
Agtpbp1	T	C	13: 59,652,067 (GRCm39)	T415A	probably benign	Het
Akt3	A	T	1: 176,924,600 (GRCm39)	V165D	probably damaging	Het
Cbr2	T	A	11: 120,620,628 (GRCm39)	I219F	probably damaging	Het
Cdh20	T	A	1: 104,902,768 (GRCm39)	D486E	probably damaging	Het
Cenpe	A	G	3: 134,949,523 (GRCm39)	S103G	possibly damaging	Het
Chd4	T	A	6: 125,105,836 (GRCm39)	S1818T	probably benign	Het
Chst5	T	C	8: 112,616,795 (GRCm39)	D275G	probably damaging	Het
Clca3a1	A	G	3: 144,724,328 (GRCm39)	I244T	probably damaging	Het
Cyp2c54	A	G	19: 40,058,716 (GRCm39)	Y239H	probably benign	Het
Czib	T	G	4: 107,752,097 (GRCm39)	S159A	probably benign	Het
Dgkb	T	C	12: 38,186,646 (GRCm39)	L265P	probably damaging	Het
Dis3	A	G	14: 99,327,415 (GRCm39)	S363P	probably benign	Het
Disp3	T	C	4: 148,327,323 (GRCm39)	E1187G	probably damaging	Het
Dop1b	G	A	16: 93,603,249 (GRCm39)	G2061R	probably damaging	Het
Dsp	T	C	13: 38,376,765 (GRCm39)	S1517P	probably benign	Het
Epg5	T	A	18: 78,076,141 (GRCm39)	V2513E	probably benign	Het
Fryl	T	A	5: 73,255,539 (GRCm39)	T831S	probably benign	Het
Gm6309	A	T	5: 146,105,100 (GRCm39)	V271D	probably damaging	Het
H2-M2	G	T	17: 37,793,528 (GRCm39)	S159R	probably benign	Het
Helq	A	G	5: 100,937,999 (GRCm39)		probably null	Het
Herc1	G	C	9: 66,382,135 (GRCm39)	D3621H	probably damaging	Het
Hsd11b2	A	T	8: 106,245,755 (GRCm39)	I87F	probably damaging	Het
Ice2	A	G	9: 69,339,360 (GRCm39)	N959S	probably damaging	Het
Ifi47	T	A	11: 48,987,452 (GRCm39)	D406E	probably damaging	Het
Ifit3	T	G	19: 34,565,280 (GRCm39)	S275R	probably damaging	Het
Insl5	C	A	4: 102,875,395 (GRCm39)	K118N	probably damaging	Het
Irf7	A	T	7: 140,844,550 (GRCm39)	F158I	probably benign	Het
Kat2b	T	C	17: 53,931,431 (GRCm39)	L143P	probably damaging	Het
Klk1b1	A	T	7: 43,619,746 (GRCm39)	N102Y	probably damaging	Het
Krt13	C	T	11: 100,008,824 (GRCm39)	G410S	unknown	Het
Larp6	A	T	9: 60,631,437 (GRCm39)	T70S	probably benign	Het
Lrrc37a	T	C	11: 103,392,683 (GRCm39)	E914G	possibly damaging	Het
Mindy4	T	C	6: 55,274,738 (GRCm39)		probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myom2	A	G	8: 15,167,679 (GRCm39)	Y1088C	probably damaging	Het
Mysm1	T	C	4: 94,840,452 (GRCm39)	N655D	probably benign	Het
Nbas	T	A	12: 13,329,390 (GRCm39)	S112T	probably damaging	Het
Neb	A	G	2: 52,055,115 (GRCm39)		probably null	Het
Noxred1	G	A	12: 87,280,206 (GRCm39)	A42V	probably benign	Het
Olfm5	G	A	7: 103,803,444 (GRCm39)	P340S	possibly damaging	Het
Or11h4	G	A	14: 50,974,122 (GRCm39)	P166S	probably benign	Het
Or2l5	T	C	16: 19,333,544 (GRCm39)	T281A	probably damaging	Het
Or5al5	A	G	2: 85,961,608 (GRCm39)	V133A	probably benign	Het
Or5m8	T	A	2: 85,822,245 (GRCm39)	V28E	probably benign	Het
Or9i1b	A	G	19: 13,896,449 (GRCm39)	K22E	probably benign	Het
Pccb	A	T	9: 100,876,615 (GRCm39)		probably null	Het
Pnn	T	A	12: 59,118,923 (GRCm39)	V502E	probably benign	Het
Pole2	A	T	12: 69,269,203 (GRCm39)	I98K	probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rasgrp4	A	G	7: 28,838,484 (GRCm39)	K111E	probably benign	Het
Rbbp6	G	A	7: 122,589,366 (GRCm39)	M351I	probably benign	Het
Rgs19	T	G	2: 181,333,101 (GRCm39)	H53P	probably damaging	Het
Rin1	A	T	19: 5,102,564 (GRCm39)	T369S	probably benign	Het
Rnaset2b	G	A	17: 7,259,138 (GRCm39)	E135K	possibly damaging	Het
Rprd2	G	A	3: 95,683,899 (GRCm39)	P379S	probably damaging	Het
Sbno1	A	G	5: 124,551,342 (GRCm39)	L47P	possibly damaging	Het
Slamf6	T	A	1: 171,747,325 (GRCm39)	L29Q	unknown	Het
Slc16a14	T	C	1: 84,890,843 (GRCm39)	Y154C	probably damaging	Het
Slc22a29	A	G	19: 8,147,342 (GRCm39)	F340S	probably damaging	Het
Slc6a4	T	G	11: 76,905,976 (GRCm39)	I259S	possibly damaging	Het
Smarca4	G	A	9: 21,558,921 (GRCm39)	V651I	possibly damaging	Het
Susd5	C	T	9: 113,893,108 (GRCm39)	A62V	possibly damaging	Het
Syt1	T	A	10: 108,463,283 (GRCm39)		probably null	Het
Taf10	T	C	7: 105,390,117 (GRCm39)	I218T	probably benign	Het
Tas1r1	C	A	4: 152,112,819 (GRCm39)	V745F	probably benign	Het
Tas2r125	C	A	6: 132,887,287 (GRCm39)	T225K	probably damaging	Het
Tcp11l2	G	T	10: 84,430,523 (GRCm39)	R216L	possibly damaging	Het
Tnks1bp1	C	T	2: 84,893,624 (GRCm39)	Q1184*	probably null	Het
Treml2	T	A	17: 48,609,847 (GRCm39)	V93D	probably damaging	Het
Trim11	G	A	11: 58,872,891 (GRCm39)	E192K	probably damaging	Het
Trim43a	A	G	9: 88,470,201 (GRCm39)	K336E	probably damaging	Het
Tspan33	T	A	6: 29,717,588 (GRCm39)	I268N	possibly damaging	Het
Tstd2	C	T	4: 46,116,960 (GRCm39)	C458Y	probably damaging	Het
Ttc6	A	G	12: 57,623,305 (GRCm39)	S235G	probably benign	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Usp36	A	T	11: 118,152,872 (GRCm39)	S1084T	possibly damaging	Het
Vps39	T	A	2: 120,155,176 (GRCm39)	N550I	probably damaging	Het
Wdr47	A	G	3: 108,537,027 (GRCm39)	I572V	probably benign	Het
Zfp112	A	T	7: 23,826,135 (GRCm39)	Y705F	probably damaging	Het
Zfp282	A	G	6: 47,881,878 (GRCm39)	T522A	probably benign	Het
Zfp292	T	C	4: 34,811,487 (GRCm39)	D524G	probably benign	Het
Zfp90	A	T	8: 107,150,900 (GRCm39)	K204N	possibly damaging	Het
Zmym2	T	C	14: 57,194,536 (GRCm39)	S1265P	probably 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
R1582:Ddx25	UTSW	9	35,457,272 (GRCm39)	missense	probably damaging	0.97
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
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'- TCGCTTGGCCTATGTTATGAC -3'
(R):5'- CCTTTGGCAAATACAGTTCTTGG -3'

Sequencing Primer
(F):5'- GACTTGGATCCTATGAATTAGAAGC -3'
(R):5'- TTTGTCCTGAAGGAGACATTGTAAG -3'

Posted On

2019-10-17