Mutagenetix > Incidental Mutation

Incidental Mutation 'R1970:Ddx4'

219790

Institutional Source

Beutler Lab

Gene Symbol

Ddx4

Ensembl Gene

ENSMUSG00000021758

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 4

Synonyms

Mvh, VASA, mvh / m'vasa

MMRRC Submission

039983-MU

Accession Numbers

Genbank: NM_001145885, NM_010029

Essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

R1970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112598333-112652475 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112600013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 608 (V608I)

Ref Sequence

ENSEMBL: ENSMUSP00000096769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075748] [ENSMUST00000099166]

AlphaFold

Q61496

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075748
AA Change: V582I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758
AA Change: V582I

Domain	Start	End	E-Value	Type
Blast:DEXDc	22	165	8e-14	BLAST
low complexity region	175	183	N/A	INTRINSIC
low complexity region	221	229	N/A	INTRINSIC
DEXDc	280	491	9.38e-59	SMART
HELICc	527	608	1.18e-32	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000099166
AA Change: V608I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758
AA Change: V608I

Domain	Start	End	E-Value	Type
Blast:DEXDc	41	191	7e-25	BLAST
low complexity region	201	209	N/A	INTRINSIC
low complexity region	247	255	N/A	INTRINSIC
DEXDc	306	517	9.38e-59	SMART
HELICc	553	634	1.18e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225150

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (121/125)

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 this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Spermatogenesis is blocked in homozygous mutant mice, resulting in male infertility. Female mutant mice are fertile and do not exhibit any obvious reproductive defects. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, other(3) Gene trapped(2)

Other mutations in this stock

Total: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,575	H578Q	probably benign	Het
Abcc12	A	G	8: 86,527,281	I958T	probably benign	Het
Abcg5	AATCATTTG	AG	17: 84,673,602		probably null	Het
Acap2	A	G	16: 31,133,527		probably null	Het
Adgrb1	T	C	15: 74,539,877		probably benign	Het
Akap6	T	A	12: 52,938,475	V897E	probably damaging	Het
Als2	A	T	1: 59,215,169	L343Q	probably benign	Het
Arhgap5	A	G	12: 52,542,593	I1275M	probably damaging	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
Bglap3	C	T	3: 88,376,993		probably benign	Het
Blnk	T	C	19: 40,940,165		probably benign	Het
C1qtnf4	T	C	2: 90,889,659	M92T	probably damaging	Het
C77080	A	G	4: 129,226,017		probably benign	Het
Ccdc177	G	A	12: 80,758,712	R263C	unknown	Het
Ccdc83	T	A	7: 90,244,154	S132C	probably damaging	Het
Cdc7	A	G	5: 106,973,074		probably benign	Het
Cgnl1	T	A	9: 71,725,535	N178I	probably benign	Het
Col27a1	C	T	4: 63,273,117		probably benign	Het
Col5a1	A	T	2: 27,986,754	M822L	unknown	Het
Coro7	T	C	16: 4,633,756	I451V	probably benign	Het
Csmd3	T	C	15: 48,673,531	T92A	probably damaging	Het
Ddc	A	G	11: 11,815,292	V460A	possibly damaging	Het
Ddx60	A	T	8: 61,972,206	H676L	possibly damaging	Het
Dmtf1	T	C	5: 9,148,989	E48G	probably benign	Het
Dpf3	T	A	12: 83,325,035		probably null	Het
Dydc2	A	G	14: 41,061,903	C88R	probably benign	Het
Elovl4	A	G	9: 83,780,719	Y163H	probably damaging	Het
Enpp2	T	C	15: 54,882,982	D296G	probably damaging	Het
Fam83h	G	T	15: 76,006,570		probably benign	Het
Fbf1	T	A	11: 116,151,491	Q511L	possibly damaging	Het
Fhdc1	A	T	3: 84,454,851	L323Q	probably damaging	Het
Fmnl2	T	A	2: 53,105,576	V437D	possibly damaging	Het
Foxo3	A	G	10: 42,197,262	S420P	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Garem2	G	T	5: 30,117,174	G844*	probably null	Het
Glmp	T	C	3: 88,327,870	L269S	probably damaging	Het
Gm2000	T	G	1: 156,366,447	*124G	probably null	Het
Gm9915	T	C	1: 42,230,721		noncoding transcript	Het
Gnb4	A	T	3: 32,598,141	D27E	probably damaging	Het
Gnb5	A	G	9: 75,344,650		probably null	Het
Gpr161	T	G	1: 165,306,358	V63G	probably damaging	Het
Gsk3a	T	A	7: 25,229,721		probably benign	Het
Hapln2	T	C	3: 88,024,120		probably null	Het
Incenp	G	T	19: 9,885,487	T401N	unknown	Het
Kalrn	A	G	16: 33,977,524		probably null	Het
Kcnq3	A	G	15: 66,028,623		probably null	Het
Kif21b	T	C	1: 136,171,156	V1394A	probably damaging	Het
Klhl23	T	C	2: 69,833,686	C460R	probably damaging	Het
L3mbtl1	G	A	2: 162,959,572	A291T	probably damaging	Het
Lcp1	T	C	14: 75,200,506	S119P	probably damaging	Het
Ldhc	A	G	7: 46,869,751	I133V	probably benign	Het
Lmntd2	G	A	7: 141,212,059		probably benign	Het
Lpl	A	T	8: 68,896,802	K327*	probably null	Het
Lrp1b	T	C	2: 40,875,069	D2801G	probably damaging	Het
Mppe1	C	A	18: 67,229,772	A131S	probably benign	Het
Msh3	T	A	13: 92,249,820		probably benign	Het
Msh5	A	G	17: 35,033,600	I377T	probably damaging	Het
Myo1e	T	C	9: 70,368,773	F757L	probably benign	Het
Myof	A	T	19: 37,945,634	D955E	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Ncor2	T	C	5: 125,038,918	D858G	probably damaging	Het
Neb	A	T	2: 52,263,905	V2398D	possibly damaging	Het
Nefl	C	G	14: 68,086,672	T453R	probably benign	Het
Nf1	A	G	11: 79,553,961	N371D	probably benign	Het
Nlrp4f	T	C	13: 65,194,091	Y580C	probably damaging	Het
Nme8	A	C	13: 19,652,322	L228R	probably damaging	Het
Numa1	C	T	7: 102,009,322	A1605V	probably damaging	Het
Ofd1	T	C	X: 166,427,214	Y205C	probably benign	Het
Olfr1047	T	A	2: 86,228,252	T240S	probably damaging	Het
Olfr1283	C	T	2: 111,369,076	S148L	probably benign	Het
Olfr1532-ps1	G	A	7: 106,914,246	G16D	probably damaging	Het
Olfr693	T	A	7: 106,677,670	N272I	probably damaging	Het
Olfr972	T	A	9: 39,873,938	I221N	probably damaging	Het
Pclo	A	G	5: 14,713,473	T3987A	unknown	Het
Pdgfrb	G	A	18: 61,066,494		probably benign	Het
Pdxk	G	A	10: 78,441,154	T270I	probably damaging	Het
Pex5	T	C	6: 124,414,405	E10G	probably damaging	Het
Pik3c2g	T	A	6: 139,900,386		probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Plppr2	T	C	9: 21,941,126	V102A	probably damaging	Het
Plxnd1	T	C	6: 115,962,517	T1449A	probably damaging	Het
Pnkd	T	A	1: 74,285,910		probably null	Het
Pom121l2	A	G	13: 21,983,472	I638V	probably damaging	Het
Prag1	A	G	8: 36,129,160		probably null	Het
Ranbp10	A	G	8: 105,786,708	F191L	probably damaging	Het
Rapgef1	T	C	2: 29,733,711	L824P	probably damaging	Het
Rec8	T	C	14: 55,624,142	L418P	probably damaging	Het
Rimbp2	T	A	5: 128,797,241	N429Y	probably damaging	Het
Rpe65	C	A	3: 159,615,670	T373K	probably benign	Het
Rrn3	T	C	16: 13,789,074	S151P	probably damaging	Het
Scn7a	A	G	2: 66,684,289	V1047A	possibly damaging	Het
Scn9a	G	T	2: 66,515,380	P1123Q	probably damaging	Het
Secisbp2l	T	C	2: 125,747,510	D706G	probably damaging	Het
Serpina5	A	T	12: 104,103,857	T338S	probably benign	Het
Sez6	G	A	11: 77,954,068		probably null	Het
Shisa4	C	T	1: 135,372,274	G157D	probably damaging	Het
Slc1a7	G	T	4: 107,968,585	D14Y	probably benign	Het
Slc25a11	A	C	11: 70,646,173	L51V	probably benign	Het
Slit3	A	G	11: 35,630,841		probably null	Het
Spata13	G	T	14: 60,691,463	G157W	probably damaging	Het
Spta1	T	C	1: 174,240,367	V2120A	possibly damaging	Het
Srpr	T	C	9: 35,213,538		probably null	Het
Syt6	A	G	3: 103,587,420	I234V	probably benign	Het
Thada	G	T	17: 84,310,042	P1349T	probably damaging	Het
Tmem161a	C	T	8: 70,176,909	R58W	probably damaging	Het
Top3b	A	G	16: 16,883,519	I232V	probably damaging	Het
Tspan1	T	A	4: 116,163,629	Q197L	possibly damaging	Het
Ttc28	A	C	5: 111,235,635	Y1334S	probably benign	Het
Ubxn6	G	T	17: 56,073,077	N28K	possibly damaging	Het
Uggt1	T	C	1: 36,151,781	D1366G	probably damaging	Het
Ugp2	A	G	11: 21,328,942	S415P	probably damaging	Het
Vcan	A	T	13: 89,689,038	S2796T	probably damaging	Het
Vipr2	T	C	12: 116,136,206	V231A	probably benign	Het
Vmn1r176	T	C	7: 23,834,948	N260S	probably benign	Het
Vmn1r59	A	T	7: 5,454,039	Y241N	probably damaging	Het
Vmn2r67	A	T	7: 85,151,805	Y308N	probably benign	Het
Vmn2r75	A	T	7: 86,148,262	M781K	probably damaging	Het
Vwa3a	A	T	7: 120,780,171	I500F	probably damaging	Het
Zfp609	A	G	9: 65,795,277	V31A	probably damaging	Het
Zfp689	G	T	7: 127,444,787	Q224K	probably damaging	Het
Zfp81	A	T	17: 33,335,501	L113H	probably benign	Het

Other mutations in Ddx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02030:Ddx4	APN	13	112624777	splice site	probably benign
IGL02682:Ddx4	APN	13	112622186	missense	probably benign	0.04
IGL02729:Ddx4	APN	13	112651412	utr 5 prime	probably benign
H8930:Ddx4	UTSW	13	112613833	splice site	probably null
R0518:Ddx4	UTSW	13	112624779	critical splice donor site	probably null
R0521:Ddx4	UTSW	13	112624779	critical splice donor site	probably null
R1527:Ddx4	UTSW	13	112622239	missense	possibly damaging	0.95
R1548:Ddx4	UTSW	13	112599997	missense	probably damaging	1.00
R1773:Ddx4	UTSW	13	112599902	missense	probably benign
R1886:Ddx4	UTSW	13	112622665	missense	probably damaging	1.00
R1969:Ddx4	UTSW	13	112600013	missense	probably damaging	0.99
R1969:Ddx4	UTSW	13	112620742	missense	probably damaging	0.99
R1971:Ddx4	UTSW	13	112600013	missense	probably damaging	0.99
R2265:Ddx4	UTSW	13	112621276	missense	probably benign	0.08
R2280:Ddx4	UTSW	13	112620656	missense	probably benign	0.03
R2846:Ddx4	UTSW	13	112604612	missense	probably damaging	0.99
R2906:Ddx4	UTSW	13	112620777	splice site	probably benign
R2980:Ddx4	UTSW	13	112612085	missense	probably damaging	1.00
R3732:Ddx4	UTSW	13	112611982	missense	possibly damaging	0.56
R4085:Ddx4	UTSW	13	112613761	missense	probably benign	0.05
R4088:Ddx4	UTSW	13	112613761	missense	probably benign	0.05
R4089:Ddx4	UTSW	13	112613761	missense	probably benign	0.05
R4090:Ddx4	UTSW	13	112613761	missense	probably benign	0.05
R4600:Ddx4	UTSW	13	112612060	missense	probably damaging	1.00
R4610:Ddx4	UTSW	13	112612060	missense	probably damaging	1.00
R4669:Ddx4	UTSW	13	112622244	missense	probably damaging	1.00
R4700:Ddx4	UTSW	13	112613735	missense	probably damaging	1.00
R4782:Ddx4	UTSW	13	112613696	critical splice donor site	probably null
R4782:Ddx4	UTSW	13	112651360	missense	probably benign	0.10
R5326:Ddx4	UTSW	13	112621245	missense	probably damaging	1.00
R5542:Ddx4	UTSW	13	112621245	missense	probably damaging	1.00
R6111:Ddx4	UTSW	13	112621232	nonsense	probably null
R6253:Ddx4	UTSW	13	112636022	nonsense	probably null
R6253:Ddx4	UTSW	13	112636023	missense	probably benign	0.00
R6286:Ddx4	UTSW	13	112613735	missense	probably damaging	1.00
R6518:Ddx4	UTSW	13	112604547	missense	probably benign
R6645:Ddx4	UTSW	13	112641174	missense	possibly damaging	0.70
R7017:Ddx4	UTSW	13	112601488	missense	probably damaging	1.00
R7155:Ddx4	UTSW	13	112613785	missense	probably benign	0.01
R7822:Ddx4	UTSW	13	112612113	missense	probably damaging	1.00
R7921:Ddx4	UTSW	13	112601507	missense	probably benign
R8041:Ddx4	UTSW	13	112626394	missense	probably benign
R8048:Ddx4	UTSW	13	112622172	missense	probably null	1.00
R8939:Ddx4	UTSW	13	112622289	missense	probably benign	0.21
R9325:Ddx4	UTSW	13	112599907	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACTGTTTCAACTTACGTCTGACAG -3'
(R):5'- CAGTGTGTGGAAAGTAGGCATTTATAG -3'

Sequencing Primer
(F):5'- CGTCTGACAGTACTTTAACTAGAGGC -3'
(R):5'- CATTTGTAGCAGAAGATGGCCTAGTC -3'

Posted On

2014-08-25