Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Ddx3y'

229196

Institutional Source

Beutler Lab

Gene Symbol

Ddx3y

Ensembl Gene

ENSMUSG00000069045

Gene Name

DEAD box helicase 3, Y-linked

Synonyms

8030469F12Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked, D1Pas1-rs1, Dby

MMRRC Submission

040081-MU

Accession Numbers

Essential gene?

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

Stock #

R2076 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

1260771-1286629 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 1266593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000088729 (fasta)

Gene Model

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

AlphaFold

Q62095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000084813

Predicted Effect

probably null
Transcript: ENSMUST00000091190

SMART Domains

Protein: ENSMUSP00000088729
Gene: ENSMUSG00000069045

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

probably null
Transcript: ENSMUST00000091190

SMART Domains

Protein: ENSMUSP00000088729
Gene: ENSMUSG00000069045

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,178,478 (GRCm39)	V1165D	probably benign	Het
Acot11	T	C	4: 106,627,910 (GRCm39)	H103R	probably damaging	Het
Apba1	G	T	19: 23,870,587 (GRCm39)	E140*	probably null	Het
Bicdl1	A	T	5: 115,793,987 (GRCm39)	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,840,802 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,197,177 (GRCm39)	R160G	probably damaging	Het
Cct7	A	T	6: 85,445,122 (GRCm39)	I458F	probably damaging	Het
Cd3g	T	A	9: 44,885,595 (GRCm39)	D50V	probably damaging	Het
Ces2h	T	C	8: 105,745,660 (GRCm39)	L461P	probably benign	Het
Cplane1	T	A	15: 8,248,741 (GRCm39)	D1763E	possibly damaging	Het
Csn2	A	G	5: 87,844,033 (GRCm39)	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,816,576 (GRCm39)	V4D	probably benign	Het
Dipk1c	G	T	18: 84,755,033 (GRCm39)	D170Y	probably damaging	Het
Dlgap1	C	T	17: 71,093,826 (GRCm39)	Q716*	probably null	Het
Dlx6	A	G	6: 6,867,098 (GRCm39)	S234G	probably benign	Het
Dnah7a	T	C	1: 53,542,968 (GRCm39)	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,281,481 (GRCm39)	Y2847*	probably null	Het
Dpysl2	A	G	14: 67,102,571 (GRCm39)	S30P	probably damaging	Het
Elp1	T	C	4: 56,786,620 (GRCm39)	D441G	probably damaging	Het
Ezh2	A	T	6: 47,553,567 (GRCm39)	L50*	probably null	Het
Fam135b	T	A	15: 71,350,092 (GRCm39)	E349D	probably damaging	Het
Foxl3	A	G	5: 138,807,022 (GRCm39)	D100G	probably benign	Het
Frat2	T	C	19: 41,836,242 (GRCm39)	T37A	probably benign	Het
Hivep1	G	A	13: 42,317,869 (GRCm39)		probably null	Het
Ift25	T	C	4: 107,136,964 (GRCm39)	S121P	possibly damaging	Het
Impdh1	G	A	6: 29,205,162 (GRCm39)	A213V	probably damaging	Het
Irf2	G	T	8: 47,298,962 (GRCm39)	W252L	probably damaging	Het
Irx4	A	G	13: 73,416,384 (GRCm39)	D260G	probably damaging	Het
Kalrn	T	A	16: 34,152,513 (GRCm39)	H338L	probably benign	Het
Kif9	T	A	9: 110,314,100 (GRCm39)		probably null	Het
Klhl24	T	C	16: 19,936,628 (GRCm39)	V412A	probably damaging	Het
Lgals8	T	A	13: 12,469,750 (GRCm39)	K70*	probably null	Het
Mrtfb	T	C	16: 13,219,246 (GRCm39)	S631P	probably benign	Het
Myo1e	T	A	9: 70,291,159 (GRCm39)	N983K	probably benign	Het
Nipbl	T	C	15: 8,340,691 (GRCm39)	R2010G	probably benign	Het
Npw	A	T	17: 24,876,413 (GRCm39)	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,262,881 (GRCm39)	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,178,479 (GRCm39)	Y579H	probably damaging	Het
Pde8a	A	G	7: 80,958,693 (GRCm39)	T330A	probably benign	Het
Plxnb2	C	T	15: 89,042,229 (GRCm39)	V1592M	probably damaging	Het
Ppp2r3d	A	C	9: 101,021,570 (GRCm39)	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,465,364 (GRCm39)	I1349K	probably damaging	Het
Rad52	C	T	6: 119,888,040 (GRCm39)	H9Y	probably benign	Het
Rapgef1	A	G	2: 29,592,520 (GRCm39)	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,320,262 (GRCm39)	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,164,088 (GRCm39)	M273V	probably benign	Het
Shoc1	A	G	4: 59,082,410 (GRCm39)	V406A	possibly damaging	Het
Slc30a3	G	T	5: 31,244,165 (GRCm39)	Y323*	probably null	Het
Slc5a9	T	C	4: 111,742,770 (GRCm39)	I441V	possibly damaging	Het
Spast	G	C	17: 74,659,026 (GRCm39)	G131A	probably damaging	Het
Syne1	C	G	10: 4,990,897 (GRCm39)	W8444S	probably damaging	Het
Tgm4	G	T	9: 122,880,160 (GRCm39)	A211S	probably benign	Het
Themis2	T	C	4: 132,513,113 (GRCm39)	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Uba3	G	T	6: 97,176,241 (GRCm39)	D88E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,144 (GRCm39)	M111K	probably damaging	Het
Wdr35	C	T	12: 9,074,281 (GRCm39)	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,005,032 (GRCm39)	H356Q	possibly damaging	Het
Zfp180	A	G	7: 23,804,528 (GRCm39)	K316E	probably damaging	Het
Zfp518a	T	C	19: 40,902,771 (GRCm39)	L900P	probably damaging	Het
Zfp655	A	G	5: 145,181,410 (GRCm39)	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,157,334 (GRCm39)	Q344R	probably benign	Het

Other mutations in Ddx3y

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03134:Ddx3y	UTSW	Y	1,278,949 (GRCm39)	missense	possibly damaging	0.93
R0326:Ddx3y	UTSW	Y	1,263,321 (GRCm39)	nonsense	probably null
R1755:Ddx3y	UTSW	Y	1,279,543 (GRCm39)	missense	probably benign	0.00
R2029:Ddx3y	UTSW	Y	1,266,389 (GRCm39)	missense	probably benign	0.05
R3610:Ddx3y	UTSW	Y	1,263,928 (GRCm39)	missense	probably null	1.00
R3973:Ddx3y	UTSW	Y	1,267,170 (GRCm39)	missense	probably damaging	1.00
R5041:Ddx3y	UTSW	Y	1,266,611 (GRCm39)	missense	probably benign	0.05
R5396:Ddx3y	UTSW	Y	1,265,965 (GRCm39)	missense	probably damaging	1.00
R6266:Ddx3y	UTSW	Y	1,266,635 (GRCm39)	missense	probably damaging	1.00
R6473:Ddx3y	UTSW	Y	1,265,971 (GRCm39)	missense	possibly damaging	0.93
R7048:Ddx3y	UTSW	Y	1,279,491 (GRCm39)	missense	probably benign	0.00
R7900:Ddx3y	UTSW	Y	1,266,594 (GRCm39)	critical splice donor site	probably null
R8090:Ddx3y	UTSW	Y	1,264,897 (GRCm39)	missense	probably benign	0.00
R8203:Ddx3y	UTSW	Y	1,269,827 (GRCm39)	missense	probably benign
R9005:Ddx3y	UTSW	Y	1,282,919 (GRCm39)	missense	probably damaging	0.98
R9491:Ddx3y	UTSW	Y	1,279,465 (GRCm39)	missense	probably benign	0.01
R9555:Ddx3y	UTSW	Y	1,265,895 (GRCm39)	missense	probably benign	0.00
R9638:Ddx3y	UTSW	Y	1,263,599 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCAACTAACAAGTGGCATC -3'
(R):5'- AAATTACATGTGGCACTGTGGTTTG -3'

Sequencing Primer
(F):5'- GTGGCATCCACGTTCTAAGTC -3'
(R):5'- TCACAAATGTCTGTAACTCCAGGG -3'

Posted On

2014-09-17