Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Ddx27'

281556

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx27

Ensembl Gene

ENSMUSG00000017999

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

167015193-167034947 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 167020523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 162 (K162E)

Ref Sequence

ENSEMBL: ENSMUSP00000135265 (fasta)

Gene Model

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

AlphaFold

Q921N6

Predicted Effect

probably benign
Transcript: ENSMUST00000018143
AA Change: K162E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: K162E

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

possibly damaging
Transcript: ENSMUST00000150571
AA Change: K162E

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135265
Gene: ENSMUSG00000017999
AA Change: K162E

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
AA Change: K162E

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

SMART Domains

Protein: ENSMUSP00000135815
Gene: ENSMUSG00000017999
AA Change: K162E

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095		probably benign	Het
Atf6b	C	A	17: 34,653,277	H539Q	probably benign	Het
Bpifb5	G	T	2: 154,229,557		probably null	Het
Cep89	T	A	7: 35,420,924	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118		probably null	Het
Cops5	T	C	1: 10,035,117	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784	N35S	probably benign	Het
Dhx36	A	G	3: 62,493,889	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696		probably benign	Het
Eci2	T	A	13: 34,978,673	T300S	probably benign	Het
Egf	C	A	3: 129,739,982	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422		probably null	Het
Fam167a	T	A	14: 63,452,259	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104		probably benign	Het
Gpr158	A	T	2: 21,783,290	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074		probably benign	Het
Luc7l	C	A	17: 26,253,080	T17K	probably damaging	Het
Mroh1	G	T	15: 76,446,599	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367	C1091G	unknown	Het
Mut	A	G	17: 40,938,817	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397	S887T	probably benign	Het
Plec	T	C	15: 76,175,615	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844	N216K	probably benign	Het
Suox	A	G	10: 128,672,098		probably benign	Het
Tars	T	A	15: 11,391,194	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179		probably null	Het
Ubtd2	A	T	11: 32,499,262	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953	H403R	probably damaging	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
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
R7352:Ddx27	UTSW	2	167029513	missense	probably benign	0.03
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

Posted On

2015-04-16