Mutagenetix > Incidental Mutation

Incidental Mutation 'R8203:Ddx3y'

635794

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

067626-MU

Accession Numbers

Essential gene?

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

Stock #

R8203 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

1260771-1286629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 1269827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 185 (E185G)

Ref Sequence

ENSEMBL: ENSMUSP00000088729 (fasta)

Gene Model

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

AlphaFold

Q62095

Predicted Effect

probably benign
Transcript: ENSMUST00000091190
AA Change: E185G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088729
Gene: ENSMUSG00000069045
AA Change: E185G

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 benign
Transcript: ENSMUST00000188484

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,075,369 (GRCm39)	I148T	probably benign	Het
Agbl3	A	G	6: 34,776,414 (GRCm39)	T307A	probably damaging	Het
Ahsa1	A	G	12: 87,315,042 (GRCm39)	D65G	probably damaging	Het
Aicda	T	C	6: 122,538,076 (GRCm39)	V78A	possibly damaging	Het
Arhgef5	A	G	6: 43,257,579 (GRCm39)	D1282G	probably damaging	Het
Atf7ip	T	C	6: 136,583,781 (GRCm39)	S1271P	probably damaging	Het
Atrn	G	A	2: 130,802,469 (GRCm39)	D537N	probably benign	Het
Brd10	A	T	19: 29,693,443 (GRCm39)	S2017T	probably benign	Het
Cep170	T	A	1: 176,596,877 (GRCm39)	Q493H	probably benign	Het
Cltc	A	T	11: 86,594,986 (GRCm39)	Y1371N	possibly damaging	Het
Col12a1	T	C	9: 79,588,831 (GRCm39)	T1095A	possibly damaging	Het
Cxcr5	T	C	9: 44,425,451 (GRCm39)	M69V	probably benign	Het
Cyp2c69	A	T	19: 39,869,584 (GRCm39)	V145E	probably damaging	Het
Dgke	G	A	11: 88,941,193 (GRCm39)	A330V	probably benign	Het
Dyrk4	A	G	6: 126,871,797 (GRCm39)	L157P	probably damaging	Het
Ermard	T	A	17: 15,240,548 (GRCm39)	S337R	possibly damaging	Het
Etl4	A	T	2: 20,789,916 (GRCm39)	M805L	possibly damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmn1	T	A	2: 113,355,620 (GRCm39)	M785K	unknown	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabrg3	G	A	7: 56,423,008 (GRCm39)	T230I	possibly damaging	Het
Gle1	A	G	2: 29,825,522 (GRCm39)	D4G	probably benign	Het
Gm5468	T	C	15: 25,414,527 (GRCm39)	S26P	noncoding transcript	Het
Igsf10	A	T	3: 59,236,254 (GRCm39)	L1309Q	probably benign	Het
Lipf	A	G	19: 33,944,283 (GRCm39)	K164R	probably benign	Het
Luc7l	C	A	17: 26,485,333 (GRCm39)	T111K	possibly damaging	Het
Masp2	A	G	4: 148,696,599 (GRCm39)	T399A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip1	T	C	13: 100,562,328 (GRCm39)	I946V	probably benign	Het
Neb	T	A	2: 52,039,259 (GRCm39)	K6927*	probably null	Het
Nipal4	A	T	11: 46,041,147 (GRCm39)	D349E	probably damaging	Het
Or12j2	A	T	7: 139,915,939 (GRCm39)	T55S	probably benign	Het
Or5al7	T	A	2: 85,992,844 (GRCm39)	I150F	probably benign	Het
Or7g22	A	G	9: 19,049,170 (GRCm39)	N294D	probably damaging	Het
Pdik1l	A	T	4: 134,006,676 (GRCm39)	H154Q	unknown	Het
Polr2m	T	G	9: 71,386,768 (GRCm39)	M338L	probably benign	Het
Rab3gap2	T	C	1: 184,999,376 (GRCm39)	L995P	probably damaging	Het
Rnf17	T	A	14: 56,705,179 (GRCm39)	H694Q	probably benign	Het
Sar1b	A	G	11: 51,670,524 (GRCm39)	K23E	probably benign	Het
Setd7	A	T	3: 51,437,519 (GRCm39)	Y245*	probably null	Het
Shpk	A	C	11: 73,104,904 (GRCm39)	D171A	probably benign	Het
Slc2a7	G	T	4: 150,243,015 (GRCm39)	E279*	probably null	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Srcin1	G	T	11: 97,457,539 (GRCm39)	P62Q	probably damaging	Het
Tbc1d2	A	G	4: 46,606,476 (GRCm39)	F823S	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tdrd9	T	A	12: 111,992,064 (GRCm39)	V613E	probably damaging	Het
Tsc1	A	G	2: 28,563,007 (GRCm39)		probably null	Het
Ulk4	A	T	9: 120,997,274 (GRCm39)	M766K	probably damaging	Het
Wdr36	G	T	18: 32,985,136 (GRCm39)	G481*	probably null	Het
Yme1l1	G	A	2: 23,054,538 (GRCm39)	R119H	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	probably damaging	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
R2076:Ddx3y	UTSW	Y	1,266,593 (GRCm39)	critical splice donor site	probably null
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
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'- TACTAAGCAGTGACTCAGACCC -3'
(R):5'- TGTCTTACTCTTTAGGGAACTCTTG -3'

Sequencing Primer
(F):5'- GCAGTGACTCAGACCCAAAAG -3'
(R):5'- AAGTAACTCTAATGAATAACTCCAGC -3'

Posted On

2020-07-13