Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:Ddx3y'

312973

Institutional Source

Beutler Lab

Gene Symbol

Ddx3y

Ensembl Gene

ENSMUSG00000069045

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked

Synonyms

Dby, D1Pas1-rs1, 8030469F12Rik

MMRRC Submission

040841-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.029) question?

Stock #

R3973 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

1260771-1286629 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 1267170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 232 (A232V)

Ref Sequence

ENSEMBL: ENSMUSP00000088729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091190] [ENSMUST00000188484]

AlphaFold

Q62095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000084813

Predicted Effect

probably damaging
Transcript: ENSMUST00000091190
AA Change: A232V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088729
Gene: ENSMUSG00000069045
AA Change: A232V

Domain	Start	End	E-Value	Type
low complexity region	124	136	N/A	INTRINSIC
low complexity region	184	195	N/A	INTRINSIC
DEXDc	198	417	3.39e-65	SMART
HELICc	454	535	2.61e-34	SMART
low complexity region	580	596	N/A	INTRINSIC
low complexity region	603	650	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188182

Predicted Effect

probably benign
Transcript: ENSMUST00000188484

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,031	I486T	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,431	S466T	probably benign	Het
4933427D14Rik	T	C	11: 72,198,741	R106G	probably damaging	Het
Cfap54	A	G	10: 92,839,471	S2863P	possibly damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Dst	T	G	1: 34,011,898	V25G	probably benign	Het
Ehbp1	C	T	11: 22,137,867	A406T	probably benign	Het
Eml5	A	T	12: 98,802,465		probably benign	Het
Eps8	A	T	6: 137,509,155	M453K	probably benign	Het
Galnt3	T	C	2: 66,107,030	D112G	possibly damaging	Het
Glra4	C	T	X: 136,762,793	A336T	probably damaging	Het
Gmppb	A	G	9: 108,050,139	D95G	probably benign	Het
Gprc6a	T	C	10: 51,628,448	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,059,486	V247D	probably damaging	Het
Htr7	T	C	19: 36,056,760	D165G	probably damaging	Het
Igha	T	C	12: 113,256,352		probably benign	Het
Igsf10	A	G	3: 59,331,924	C279R	probably damaging	Het
Irak4	A	G	15: 94,554,740	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,558,323	V274E	probably damaging	Het
Lrpprc	A	C	17: 84,770,841		probably null	Het
Mast1	T	C	8: 84,918,764	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363	F2382L	probably benign	Het
Mepe	C	T	5: 104,337,078	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,589,666	I171F	probably benign	Het
Muc2	T	A	7: 141,746,804		probably benign	Het
Myh3	C	T	11: 67,096,436	Q1371*	probably null	Het
Nodal	T	A	10: 61,423,054	V90E	probably benign	Het
Npas4	A	T	19: 4,986,551	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,824,236	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,754,586	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,641,816	D947G	probably damaging	Het
Pla2r1	A	G	2: 60,448,962	V758A	probably benign	Het
Plod2	G	T	9: 92,598,619	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,253,480	V660A	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Prkd3	G	A	17: 78,959,141		probably benign	Het
Prrc2a	A	G	17: 35,157,932	L734P	probably damaging	Het
Rnf128	C	A	X: 139,664,522	L282I	probably damaging	Het
Rnf213	A	G	11: 119,469,053	N4424S		Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,767,848	S66T	probably benign	Het
Setd3	T	C	12: 108,165,158	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,158,210		probably null	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Spc25	A	G	2: 69,202,601	L60P	probably damaging	Het
Stam	A	C	2: 14,138,961	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,736,277	R254P	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trav7-4	A	G	14: 53,461,662	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,216,140	H361N	probably damaging	Het
Ugt2b1	C	A	5: 86,917,675	V502L	probably benign	Het
Vip	T	A	10: 5,642,590	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,218,697	M1025L	probably benign	Het
Zfp541	A	G	7: 16,072,222	D94G	probably damaging	Het

Other mutations in Ddx3y

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03134:Ddx3y	UTSW	Y	1278949	missense	possibly damaging	0.93
R0326:Ddx3y	UTSW	Y	1263321	nonsense	probably null
R1755:Ddx3y	UTSW	Y	1279543	missense	probably benign	0.00
R2029:Ddx3y	UTSW	Y	1266389	missense	probably benign	0.05
R2076:Ddx3y	UTSW	Y	1266593	critical splice donor site	probably null
R3610:Ddx3y	UTSW	Y	1263928	missense	probably null	1.00
R5041:Ddx3y	UTSW	Y	1266611	missense	probably benign	0.05
R5396:Ddx3y	UTSW	Y	1265965	missense	probably damaging	1.00
R6266:Ddx3y	UTSW	Y	1266635	missense	probably damaging	1.00
R6473:Ddx3y	UTSW	Y	1265971	missense	possibly damaging	0.93
R7048:Ddx3y	UTSW	Y	1279491	missense	probably benign	0.00
R7900:Ddx3y	UTSW	Y	1266594	critical splice donor site	probably null
R8090:Ddx3y	UTSW	Y	1264897	missense	probably benign	0.00
R8203:Ddx3y	UTSW	Y	1269827	missense	probably benign
R9005:Ddx3y	UTSW	Y	1282919	missense	probably damaging	0.98
R9491:Ddx3y	UTSW	Y	1279465	missense	probably benign	0.01
R9555:Ddx3y	UTSW	Y	1265895	missense	probably benign	0.00
R9638:Ddx3y	UTSW	Y	1263599	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCACAGTGCCACATGTAATTTAAG -3'
(R):5'- TGCTTCACATAGTCATAGACCAGG -3'

Sequencing Primer
(F):5'- TTGAACTGGAAACACACAAATGTCTC -3'
(R):5'- CCAGGATGACCTTAGGCTTACTAG -3'

Posted On

2015-04-30