Mutagenetix > Incidental Mutation

Incidental Mutation 'R9491:Ddx3y'

716965

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

Accession Numbers

Essential gene?

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

Stock #

R9491 (G1)

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

1260771-1286629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 1279465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 133 (D133V)

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: D133V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000088729
Gene: ENSMUSG00000069045
AA Change: D133V

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: 99.7%
20x: 99.0%

Validation Efficiency

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
Acy1	G	A	9: 106,312,994 (GRCm39)	T142I	probably damaging	Het
Adcy9	T	C	16: 4,236,052 (GRCm39)	E453G	probably damaging	Het
Ank3	A	C	10: 69,838,339 (GRCm39)		probably null	Het
Asmt	G	A	X: 169,108,405 (GRCm39)	G103D	possibly damaging	Het
Cap2	C	T	13: 46,791,366 (GRCm39)	P290S	possibly damaging	Het
Cfap43	A	T	19: 47,800,505 (GRCm39)		probably null	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Clstn1	T	C	4: 149,731,929 (GRCm39)	S950P	probably damaging	Het
Cluap1	G	A	16: 3,758,732 (GRCm39)	R398Q	probably benign	Het
Cmbl	G	T	15: 31,582,119 (GRCm39)	V39L	probably benign	Het
Dapk1	A	G	13: 60,877,369 (GRCm39)	D536G	probably benign	Het
Duox1	T	A	2: 122,156,907 (GRCm39)	S525T	probably benign	Het
Eif2s2	T	C	2: 154,734,630 (GRCm39)		probably benign	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gadd45a	A	T	6: 67,012,730 (GRCm39)	D137E	probably benign	Het
Gmppa	A	G	1: 75,415,602 (GRCm39)	D120G	probably damaging	Het
Gpr156	A	T	16: 37,825,704 (GRCm39)	R640S	probably benign	Het
Grik1	A	T	16: 87,746,995 (GRCm39)	M414K		Het
Gtse1	C	T	15: 85,755,734 (GRCm39)	P466L	probably damaging	Het
H6pd	T	A	4: 150,080,366 (GRCm39)	N160Y	probably benign	Het
Hectd4	T	G	5: 121,452,981 (GRCm39)	L496R	probably damaging	Het
Hnrnpk	G	T	13: 58,541,050 (GRCm39)	Q441K	probably benign	Het
Incenp	T	C	19: 9,854,141 (GRCm39)	K637E	unknown	Het
Irgc	C	T	7: 24,132,349 (GRCm39)	R156H	probably benign	Het
Kazn	C	T	4: 141,845,436 (GRCm39)	A383T		Het
Lmln	A	G	16: 32,890,358 (GRCm39)	E169G	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mdfic	T	A	6: 15,799,852 (GRCm39)	C326*	probably null	Het
Ncoa1	T	A	12: 4,340,912 (GRCm39)	D840V	probably benign	Het
Nkd1	A	G	8: 89,300,875 (GRCm39)	D81G	probably benign	Het
Or5an1c	T	C	19: 12,218,606 (GRCm39)	T140A	probably benign	Het
Or8c10	T	C	9: 38,278,971 (GRCm39)	V33A	possibly damaging	Het
Parp4	G	A	14: 56,832,828 (GRCm39)	E384K	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,895 (GRCm39)	L430H	probably damaging	Het
Pdgfrb	A	G	18: 61,212,056 (GRCm39)	Y861C	probably damaging	Het
Pheta1	G	A	5: 121,991,051 (GRCm39)	A138T	probably benign	Het
Pipox	T	A	11: 77,772,359 (GRCm39)	Y337F	probably benign	Het
Prcc	A	G	3: 87,774,671 (GRCm39)	V377A	probably benign	Het
Prrg2	T	A	7: 44,706,218 (GRCm39)	Y133F	probably damaging	Het
Ptchd3	T	C	11: 121,733,813 (GRCm39)	V901A	probably damaging	Het
Rgl1	A	G	1: 152,424,869 (GRCm39)	L335P	probably damaging	Het
Setx	T	A	2: 29,037,835 (GRCm39)	M1440K	probably benign	Het
Smchd1	A	G	17: 71,667,020 (GRCm39)		probably null	Het
Tbpl2	T	C	2: 23,986,532 (GRCm39)	I6V	probably benign	Het
Tdrd12	T	A	7: 35,188,689 (GRCm39)	H516L		Het
Tmem8b	C	T	4: 43,673,938 (GRCm39)	R190C	probably damaging	Het
Tpmt	A	T	13: 47,180,752 (GRCm39)	S196T	probably benign	Het
Trp63	A	G	16: 25,695,472 (GRCm39)	N478S	unknown	Het
Vstm5	T	G	9: 15,168,586 (GRCm39)	I50S	probably damaging	Het
Wdhd1	A	T	14: 47,505,616 (GRCm39)	C285*	probably null	Het
Zdhhc23	A	C	16: 43,794,062 (GRCm39)	V204G	probably benign	Het
Zfp653	T	A	9: 21,969,622 (GRCm39)	K215*	probably null	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
R8203:Ddx3y	UTSW	Y	1,269,827 (GRCm39)	missense	probably benign
R9005:Ddx3y	UTSW	Y	1,282,919 (GRCm39)	missense	probably damaging	0.98
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'- ATCACTAAGCCATCCTTCTGAC -3'
(R):5'- CAAGTCTGCTCTGTTTGTAAGC -3'

Sequencing Primer
(F):5'- CAAGTTTGTGCACACTAGG -3'
(R):5'- TGCTCTGTTTGTAAGCAGTTATTTAC -3'

Posted On

2022-07-18