Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Ddx27'

570621

Institutional Source

Beutler Lab

Gene Symbol

Ddx27

Ensembl Gene

ENSMUSG00000017999

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 27

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167015193-167034947 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167029513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 510 (V510A)

Ref Sequence

ENSEMBL: ENSMUSP00000018143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000150571] [ENSMUST00000176066]

AlphaFold

Q921N6

Predicted Effect

probably benign
Transcript: ENSMUST00000018143
AA Change: V510A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: V510A

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
coiled coil region	78	106	N/A	INTRINSIC
low complexity region	133	148	N/A	INTRINSIC
low complexity region	157	166	N/A	INTRINSIC
DEXDc	203	404	2.24e-56	SMART
HELICc	443	524	1.71e-29	SMART
coiled coil region	577	613	N/A	INTRINSIC
low complexity region	622	629	N/A	INTRINSIC
low complexity region	644	657	N/A	INTRINSIC
low complexity region	679	692	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150571

SMART Domains

Protein: ENSMUSP00000135265
Gene: ENSMUSG00000017999

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
coiled coil region	78	106	N/A	INTRINSIC
low complexity region	133	148	N/A	INTRINSIC
low complexity region	157	166	N/A	INTRINSIC
Pfam:DEAD	208	292	2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176066

SMART Domains

Protein: ENSMUSP00000135815
Gene: ENSMUSG00000017999

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
coiled coil region	78	106	N/A	INTRINSIC
low complexity region	133	148	N/A	INTRINSIC
low complexity region	157	166	N/A	INTRINSIC
low complexity region	171	198	N/A	INTRINSIC
Pfam:DEAD	236	309	1e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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 involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA792892	A	T	5: 94,383,884	N209I	probably damaging	Het
Abca17	C	T	17: 24,289,054	W1124*	probably null	Het
Acap3	G	A	4: 155,905,711	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,708,041	L860P	probably damaging	Het
Arap3	G	A	18: 37,973,278	T1504I	probably benign	Het
Atad5	T	C	11: 80,103,343		probably null	Het
Atp8a2	A	G	14: 59,791,204	V938A	probably benign	Het
AW551984	T	C	9: 39,592,925	M582V	probably benign	Het
Axdnd1	C	T	1: 156,382,477	V408I	possibly damaging	Het
Babam2	T	A	5: 32,007,250	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,324,626	M20V	probably benign	Het
Bex6	A	G	16: 32,186,216		probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Cad	T	A	5: 31,058,078	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,818,023	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,937,387	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,299,311	F1396I	probably damaging	Het
Cep170	A	T	1: 176,769,857	D373E	probably benign	Het
Chrna4	A	T	2: 181,037,474	I60N	probably damaging	Het
Cntn2	T	C	1: 132,522,399	T586A	probably benign	Het
Csmd2	G	T	4: 128,557,636	V3396F		Het
Cyp3a44	T	A	5: 145,803,688	L47F	probably benign	Het
D7Ertd443e	A	T	7: 134,349,394	H183Q	probably benign	Het
Ddx58	T	A	4: 40,239,668	Q10L	probably benign	Het
Dgat1	G	T	15: 76,502,824	C396*	probably null	Het
Dmpk	A	G	7: 19,086,072	S83G	probably damaging	Het
Dsc2	T	G	18: 20,035,335	D689A	probably benign	Het
Eppk1	A	T	15: 76,106,418	W2088R	probably benign	Het
Exph5	A	C	9: 53,375,722	I1368L	probably benign	Het
Fadd	T	C	7: 144,580,659	K163R	probably benign	Het
Fam149a	T	A	8: 45,340,997	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,268,251	M449K	probably benign	Het
Gad1	T	C	2: 70,594,750	F463L	probably benign	Het
Gad2	T	A	2: 22,623,823	F91I	probably benign	Het
Gcc2	T	C	10: 58,280,698		probably null	Het
Gjc1	A	C	11: 102,800,452	C242G	probably damaging	Het
Gkn1	T	C	6: 87,348,118	E103G	possibly damaging	Het
Gm867	T	C	10: 75,939,836	T39A	probably benign	Het
Gpr108	A	G	17: 57,236,944	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,307,993	V508G	probably damaging	Het
Grm1	A	T	10: 10,719,493	I797N	probably damaging	Het
Ice1	G	A	13: 70,606,102	Q622*	probably null	Het
Kcnb2	T	A	1: 15,710,611	V569E	probably benign	Het
Ksr2	T	G	5: 117,689,641	I495S	probably benign	Het
Litaf	A	T	16: 10,963,353	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,111	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,472,397	S2996Y	probably benign	Het
Ltf	T	C	9: 111,028,450	S436P	probably benign	Het
Map4k4	T	A	1: 39,962,227	V58D	unknown	Het
Mapkapk3	C	A	9: 107,257,070	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,451,474	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,333,911	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,850,293	M248V	probably benign	Het
Olfr1000	T	C	2: 85,608,784	N42S	probably damaging	Het
Olfr1208	T	A	2: 88,896,718	N293I	probably damaging	Het
Olfr1238	T	C	2: 89,406,462	M206V	probably benign	Het
Olfr1239	C	A	2: 89,417,967	G149W	probably damaging	Het
Olfr1443	A	G	19: 12,680,751	I214M	possibly damaging	Het
Olfr523	A	T	7: 140,176,525	Y135F	probably damaging	Het
Olig2	A	G	16: 91,226,689	D97G	probably benign	Het
Pcdha11	T	A	18: 37,006,845	V509E	probably damaging	Het
Pglyrp3	G	A	3: 92,014,640	W5*	probably null	Het
Phf14	A	T	6: 11,961,638	N425Y	probably damaging	Het
Phf3	G	T	1: 30,804,326	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,328,812	T39A	probably damaging	Het
Plin4	A	G	17: 56,104,427	M868T	probably benign	Het
Pnma2	A	G	14: 66,916,421	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,041,832	T782I	probably damaging	Het
Prickle2	T	G	6: 92,410,890	E566D	probably benign	Het
Pvr	A	G	7: 19,910,616	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,968,358		probably benign	Het
Rapgef4	T	A	2: 72,180,091	I331N	probably damaging	Het
Reg3g	C	T	6: 78,466,859	W122*	probably null	Het
Rlbp1	A	T	7: 79,381,680	I100N	probably damaging	Het
Rnf213	T	A	11: 119,443,579	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Rtl6	G	T	15: 84,556,980	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,637,194	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,525,701	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,948,279	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,790,984	T392A	probably damaging	Het
Spaca7	T	A	8: 12,585,742	I86K	probably benign	Het
Syt10	G	T	15: 89,814,456	D228E	probably benign	Het
Tbx3	T	A	5: 119,677,560	N308K	probably benign	Het
Telo2	A	G	17: 25,102,069	V724A	probably damaging	Het
Tfip11	T	C	5: 112,333,268	V370A	probably benign	Het
Thbs3	A	G	3: 89,225,280	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,496,542	I148V	not run	Het
Trbv14	T	A	6: 41,135,495	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,876	V2973A	probably damaging	Het
Ttn	T	C	2: 76,794,484	D15250G	probably damaging	Het
Ubr2	G	A	17: 46,930,426	T1734I	probably benign	Het
Ush2a	G	T	1: 188,466,124	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,388,881	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,840,446	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,264,418	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,947,177	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,360,081	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,298,981	M87T	probably benign	Het

Other mutations in Ddx27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Ddx27	APN	2	167019966	missense	probably benign	0.00
IGL01610:Ddx27	APN	2	167022044	splice site	probably benign
IGL01724:Ddx27	APN	2	167028389	missense	probably damaging	1.00
IGL02035:Ddx27	APN	2	167029512	missense	probably benign	0.00
IGL02141:Ddx27	APN	2	167020523	missense	possibly damaging	0.67
IGL02402:Ddx27	APN	2	167015325	utr 5 prime	probably benign
IGL02600:Ddx27	APN	2	167026204	missense	probably damaging	1.00
IGL02882:Ddx27	APN	2	167027913	missense	possibly damaging	0.86
IGL03177:Ddx27	APN	2	167027920	missense	possibly damaging	0.76
R1938:Ddx27	UTSW	2	167034109	missense	probably damaging	1.00
R2020:Ddx27	UTSW	2	167033771	missense	probably damaging	1.00
R2038:Ddx27	UTSW	2	167033755	missense	probably damaging	1.00
R2116:Ddx27	UTSW	2	167027764	missense	probably benign	0.23
R3103:Ddx27	UTSW	2	167026246	missense	probably damaging	1.00
R4524:Ddx27	UTSW	2	167027720	nonsense	probably null
R4586:Ddx27	UTSW	2	167019984	missense	probably benign	0.00
R4737:Ddx27	UTSW	2	167029299	missense	probably benign	0.37
R5350:Ddx27	UTSW	2	167027860	unclassified	probably benign
R5568:Ddx27	UTSW	2	167029519	missense	possibly damaging	0.78
R5573:Ddx27	UTSW	2	167017886	missense	possibly damaging	0.87
R5606:Ddx27	UTSW	2	167019966	missense	probably benign	0.00
R6026:Ddx27	UTSW	2	167033640	missense	probably benign	0.00
R6699:Ddx27	UTSW	2	167020503	missense	possibly damaging	0.92
R6845:Ddx27	UTSW	2	167022096	missense	probably damaging	1.00
R6941:Ddx27	UTSW	2	167015377	missense	possibly damaging	0.93
R7765:Ddx27	UTSW	2	167027959	missense	probably damaging	1.00
R8795:Ddx27	UTSW	2	167017810	missense	probably benign	0.01
R9220:Ddx27	UTSW	2	167029513	missense	probably benign	0.03
R9347:Ddx27	UTSW	2	167020030	missense	possibly damaging	0.91
Z1177:Ddx27	UTSW	2	167033841	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGGTCTTGACATTGAAGGAGTG -3'
(R):5'- TCTGACAAGCTGGACCCTAC -3'

Sequencing Primer
(F):5'- TCTTGACATTGAAGGAGTGAAAAC -3'
(R):5'- TGGTACACAGCTTCCTAGGG -3'

Posted On

2019-09-13