Mutagenetix > Incidental Mutation

Incidental Mutation 'R0362:Ddx28'

36252

Institutional Source

Beutler Lab

Gene Symbol

Ddx28

Ensembl Gene

ENSMUSG00000045538

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 28

Synonyms

2410004K13Rik, Mddx28

MMRRC Submission

038568-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R0362 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

106009621-106011882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106011294 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 44 (R44Q)

Ref Sequence

ENSEMBL: ENSMUSP00000058950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034375] [ENSMUST00000058579] [ENSMUST00000119736] [ENSMUST00000142898]

AlphaFold

Q9CWT6

Predicted Effect

probably benign
Transcript: ENSMUST00000034375

SMART Domains

Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901

Domain	Start	End	E-Value	Type
Pfam:Dus	15	344	1.8e-54	PFAM
DSRM	370	435	1.03e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000058579
AA Change: R44Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058950
Gene: ENSMUSG00000045538
AA Change: R44Q

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
low complexity region	42	58	N/A	INTRINSIC
DEXDc	147	365	1.64e-40	SMART
HELICc	411	492	6.89e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119736

SMART Domains

Protein: ENSMUSP00000113781
Gene: ENSMUSG00000031901

Domain	Start	End	E-Value	Type
Pfam:Dus	1	233	8.1e-38	PFAM
DSRM	257	322	1.03e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141374

Predicted Effect

probably benign
Transcript: ENSMUST00000142898

Meta Mutation Damage Score

0.1553

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,732,917	Q401R	probably benign	Het
Acpp	A	G	9: 104,314,427	F220S	probably damaging	Het
Adam7	A	G	14: 68,509,656		probably benign	Het
Adamts6	A	G	13: 104,390,076		probably null	Het
Ascc3	T	C	10: 50,748,955		probably benign	Het
Atg10	T	C	13: 91,040,990		probably null	Het
Atm	T	C	9: 53,458,838	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,169,616	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551	K1111E	probably damaging	Het
Col11a2	T	A	17: 34,062,446		probably null	Het
Ctcfl	A	G	2: 173,118,443	W116R	probably damaging	Het
Ctsk	A	T	3: 95,500,944	Y37F	probably damaging	Het
Daam2	G	C	17: 49,480,785		probably null	Het
Dcdc2b	T	C	4: 129,610,238		probably null	Het
Dhx29	T	A	13: 112,962,859	N1139K	probably benign	Het
Dnah17	A	T	11: 118,098,539	M1281K	probably benign	Het
Dnah6	T	C	6: 73,208,609	S110G	probably benign	Het
Drc7	T	C	8: 95,072,855	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487		probably null	Het
Ecm1	A	G	3: 95,737,057	I152T	possibly damaging	Het
Edc4	C	G	8: 105,886,775	P307R	probably damaging	Het
Egr1	A	G	18: 34,863,313	T383A	possibly damaging	Het
Eml2	A	G	7: 19,190,806		probably null	Het
Eno4	A	G	19: 58,943,624		probably benign	Het
Erbb4	A	T	1: 68,330,270	I404K	probably damaging	Het
Exoc7	G	T	11: 116,295,662	T310K	probably benign	Het
Fam102b	C	T	3: 108,980,181	E256K	probably benign	Het
Fam83e	G	T	7: 45,726,969	V369L	probably benign	Het
Fam96b	T	C	8: 104,641,590	D34G	probably null	Het
Fancc	A	T	13: 63,398,156	I91K	possibly damaging	Het
Fbn1	T	C	2: 125,309,777	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,090,076	C826*	probably null	Het
Foxi3	A	G	6: 70,956,628	D33G	probably benign	Het
Gcn1l1	T	C	5: 115,576,108		probably benign	Het
Gm14221	T	C	2: 160,568,390		noncoding transcript	Het
Golga4	T	A	9: 118,555,785	H630Q	probably benign	Het
Gpat4	T	C	8: 23,180,933	S88G	probably benign	Het
Gucy2d	A	T	7: 98,443,685	S90C	probably damaging	Het
Has2	A	C	15: 56,681,661	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,888,861	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,457,212	V48A	probably benign	Het
Lig1	T	A	7: 13,296,804		probably benign	Het
Magi2	A	G	5: 19,227,575	K96R	probably damaging	Het
Map7d1	G	T	4: 126,234,994	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439		probably null	Het
Mfsd4a	A	T	1: 132,059,275	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,109,545	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,874,304	V53M	probably damaging	Het
Myo9b	T	C	8: 71,347,770	W990R	probably damaging	Het
Myt1	A	T	2: 181,763,393		probably benign	Het
Nf1	C	T	11: 79,536,878	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,548,797	V400A	possibly damaging	Het
Nup205	T	A	6: 35,196,714		probably null	Het
Nxf1	T	C	19: 8,764,151		probably null	Het
Olfr1352	A	T	10: 78,984,386	M199L	probably benign	Het
P4hb	T	C	11: 120,563,336	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,683,631	N243S	probably benign	Het
Parp8	G	A	13: 116,924,968	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,435,327	D543A	probably benign	Het
Pld5	A	T	1: 175,975,580	L311*	probably null	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plpp5	A	T	8: 25,724,192	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,478,285	L542S	probably damaging	Het
Prkar2b	A	T	12: 31,987,974		probably null	Het
Psmg1	A	T	16: 95,987,971	S129T	possibly damaging	Het
Radil	T	C	5: 142,543,827	D38G	probably benign	Het
Ric1	T	C	19: 29,601,011		probably null	Het
Rp1l1	T	A	14: 64,031,066	L1367*	probably null	Het
Rxfp1	A	T	3: 79,737,793	M1K	probably null	Het
Serpina6	G	T	12: 103,651,949	L202I	probably damaging	Het
Simc1	T	C	13: 54,528,467	I98T	probably damaging	Het
Slc17a6	A	G	7: 51,658,771	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,379,941		probably benign	Het
Slc34a1	T	A	13: 55,402,898		probably null	Het
Slfn10-ps	T	A	11: 83,035,774		noncoding transcript	Het
Sohlh2	A	G	3: 55,207,742	N383D	probably damaging	Het
Spag6	T	A	2: 18,710,491	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,546,555		probably benign	Het
St3gal4	T	A	9: 35,053,173	K199*	probably null	Het
Stat5a	T	A	11: 100,882,083	D712E	probably benign	Het
Stmn2	A	T	3: 8,545,690	D78V	probably damaging	Het
Stpg1	C	T	4: 135,506,466	P20S	possibly damaging	Het
Taf2	A	T	15: 55,045,929	V640E	probably damaging	Het
Tbce	T	C	13: 13,998,162	E501G	probably benign	Het
Tecpr2	A	G	12: 110,968,940	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,772,035	Y598*	probably null	Het
Ticrr	A	G	7: 79,677,340	S599G	probably damaging	Het
Tnc	A	C	4: 64,017,442	V419G	probably damaging	Het
Trappc1	C	A	11: 69,325,576	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,119,059		probably benign	Het
Ttbk2	A	T	2: 120,745,783	N835K	possibly damaging	Het
Tubgcp5	A	G	7: 55,800,684	D181G	probably damaging	Het
Tut1	T	C	19: 8,955,527	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,787,586	C769F	probably benign	Het
Vdac1	T	C	11: 52,374,973		probably benign	Het
Vmn2r124	T	C	17: 18,064,224		probably null	Het
Vps8	T	C	16: 21,608,227		probably benign	Het
Wdr35	T	C	12: 8,995,625		probably benign	Het
Zdhhc7	T	A	8: 120,086,647	E141V	probably null	Het
Zfp12	C	A	5: 143,245,223	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,927,394		probably benign	Het
Zfyve9	T	A	4: 108,680,969	K1033N	probably damaging	Het
Zswim8	T	A	14: 20,721,945	S1572T	possibly damaging	Het

Other mutations in Ddx28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Ddx28	APN	8	106010580	missense	probably damaging	0.97
R0166:Ddx28	UTSW	8	106010289	missense	probably benign	0.00
R0329:Ddx28	UTSW	8	106010245	missense	probably benign	0.00
R0464:Ddx28	UTSW	8	106010053	missense	probably damaging	1.00
R1267:Ddx28	UTSW	8	106009917	missense	probably damaging	1.00
R1686:Ddx28	UTSW	8	106010558	missense	probably damaging	1.00
R1748:Ddx28	UTSW	8	106010682	missense	probably benign	0.01
R2201:Ddx28	UTSW	8	106010574	missense	probably damaging	1.00
R4005:Ddx28	UTSW	8	106010928	missense	possibly damaging	0.80
R6456:Ddx28	UTSW	8	106010368	missense	possibly damaging	0.94
R6601:Ddx28	UTSW	8	106010616	splice site	probably null
R7295:Ddx28	UTSW	8	106010844	missense	probably benign
R7320:Ddx28	UTSW	8	106011325	missense	probably damaging	0.96
R7690:Ddx28	UTSW	8	106010331	missense	probably damaging	1.00
R8427:Ddx28	UTSW	8	106010280	missense	probably benign	0.16
R9685:Ddx28	UTSW	8	106010101	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGCGTCTTGCCACTGCCAGTTTC -3'
(R):5'- AGATGACTCCAATCTGGACATCGCC -3'

Sequencing Primer
(F):5'- AGGTTGGCTGCACAACTTC -3'
(R):5'- GGTGGAAACCTACAGACCTCG -3'

Posted On

2013-05-09