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 box helicase 27

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

166857233-166876865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166862443 bp (GRCm39)

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: 146,120,275 (GRCm39)	A188T	probably benign	Het
2310022B05Rik	A	T	8: 125,364,645 (GRCm39)		probably benign	Het
Atf6b	C	A	17: 34,872,251 (GRCm39)	H539Q	probably benign	Het
Bmal2	T	A	6: 146,729,593 (GRCm39)		probably benign	Het
Bpifb5	G	T	2: 154,071,477 (GRCm39)		probably null	Het
Cep89	T	A	7: 35,120,349 (GRCm39)	M377K	probably damaging	Het
Clpx	G	T	9: 65,219,400 (GRCm39)		probably null	Het
Cops5	T	C	1: 10,105,342 (GRCm39)	K47E	probably damaging	Het
Cryba2	T	C	1: 74,931,943 (GRCm39)	N35S	probably benign	Het
Dhx36	A	G	3: 62,401,310 (GRCm39)	S319P	probably benign	Het
Dram2	A	G	3: 106,479,012 (GRCm39)		probably benign	Het
Eci2	T	A	13: 35,162,656 (GRCm39)	T300S	probably benign	Het
Egf	C	A	3: 129,533,631 (GRCm39)	G70*	probably null	Het
Eif5b	T	C	1: 38,071,403 (GRCm39)	V444A	probably benign	Het
Elf3	T	C	1: 135,185,445 (GRCm39)	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422 (GRCm39)		probably null	Het
Fam167a	T	A	14: 63,689,708 (GRCm39)	S2T	probably benign	Het
Flrt3	A	G	2: 140,502,608 (GRCm39)	V340A	probably damaging	Het
Gimap3	T	C	6: 48,742,312 (GRCm39)	E206G	probably benign	Het
Gp6	T	C	7: 4,397,103 (GRCm39)		probably benign	Het
Gpr158	A	T	2: 21,788,101 (GRCm39)	M581L	probably damaging	Het
Hapln3	A	G	7: 78,767,893 (GRCm39)	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,358,142 (GRCm39)	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,251,982 (GRCm39)	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,387,869 (GRCm39)	T926M	probably damaging	Het
Lonp1	A	T	17: 56,922,086 (GRCm39)	S765T	probably benign	Het
Lpp	C	T	16: 24,580,365 (GRCm39)	S27F	probably damaging	Het
Lrit2	T	C	14: 36,790,031 (GRCm39)		probably benign	Het
Luc7l	C	A	17: 26,472,054 (GRCm39)	T17K	probably damaging	Het
Mmut	A	G	17: 41,249,708 (GRCm39)	T228A	possibly damaging	Het
Mroh1	G	T	15: 76,330,799 (GRCm39)	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,407,104 (GRCm39)	C1091G	unknown	Het
Nppb	A	T	4: 148,070,463 (GRCm39)	I11F	probably benign	Het
Nsf	A	T	11: 103,719,351 (GRCm39)	D650E	probably benign	Het
Ogdh	A	G	11: 6,305,015 (GRCm39)	K907E	probably damaging	Het
Or1b1	G	A	2: 36,995,437 (GRCm39)	S75F	probably benign	Het
Or1j15	A	G	2: 36,458,820 (GRCm39)	D70G	probably damaging	Het
Or7a35	A	G	10: 78,853,555 (GRCm39)	Y133C	probably damaging	Het
Pcnx1	A	T	12: 81,907,156 (GRCm39)	Q4L	possibly damaging	Het
Pgc	T	A	17: 48,037,856 (GRCm39)	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,285,556 (GRCm39)	S887T	probably benign	Het
Plec	T	C	15: 76,059,815 (GRCm39)	D3239G	probably damaging	Het
Pole4	T	C	6: 82,625,015 (GRCm39)	T116A	probably benign	Het
Potegl	T	C	2: 23,120,212 (GRCm39)	F203L	probably damaging	Het
Prpf8	A	G	11: 75,381,498 (GRCm39)	N300D	possibly damaging	Het
Rara	T	A	11: 98,858,907 (GRCm39)	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,160,294 (GRCm39)	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slfn2	C	A	11: 82,960,670 (GRCm39)	N216K	probably benign	Het
Suox	A	G	10: 128,507,967 (GRCm39)		probably benign	Het
Tars1	T	A	15: 11,391,280 (GRCm39)	Y283F	probably damaging	Het
Trpm4	A	T	7: 44,967,603 (GRCm39)		probably null	Het
Ubtd2	A	T	11: 32,449,262 (GRCm39)	K36N	probably benign	Het
Unkl	T	C	17: 25,448,408 (GRCm39)	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,114,364 (GRCm39)	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,227 (GRCm39)	V948A	probably benign	Het
Zbtb17	A	G	4: 141,192,264 (GRCm39)	H403R	probably damaging	Het

Other mutations in Ddx27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Ddx27	APN	2	166,861,886 (GRCm39)	missense	probably benign	0.00
IGL01610:Ddx27	APN	2	166,863,964 (GRCm39)	splice site	probably benign
IGL01724:Ddx27	APN	2	166,870,309 (GRCm39)	missense	probably damaging	1.00
IGL02035:Ddx27	APN	2	166,871,432 (GRCm39)	missense	probably benign	0.00
IGL02402:Ddx27	APN	2	166,857,245 (GRCm39)	utr 5 prime	probably benign
IGL02600:Ddx27	APN	2	166,868,124 (GRCm39)	missense	probably damaging	1.00
IGL02882:Ddx27	APN	2	166,869,833 (GRCm39)	missense	possibly damaging	0.86
IGL03177:Ddx27	APN	2	166,869,840 (GRCm39)	missense	possibly damaging	0.76
R1938:Ddx27	UTSW	2	166,876,029 (GRCm39)	missense	probably damaging	1.00
R2020:Ddx27	UTSW	2	166,875,691 (GRCm39)	missense	probably damaging	1.00
R2038:Ddx27	UTSW	2	166,875,675 (GRCm39)	missense	probably damaging	1.00
R2116:Ddx27	UTSW	2	166,869,684 (GRCm39)	missense	probably benign	0.23
R3103:Ddx27	UTSW	2	166,868,166 (GRCm39)	missense	probably damaging	1.00
R4524:Ddx27	UTSW	2	166,869,640 (GRCm39)	nonsense	probably null
R4586:Ddx27	UTSW	2	166,861,904 (GRCm39)	missense	probably benign	0.00
R4737:Ddx27	UTSW	2	166,871,219 (GRCm39)	missense	probably benign	0.37
R5350:Ddx27	UTSW	2	166,869,780 (GRCm39)	unclassified	probably benign
R5568:Ddx27	UTSW	2	166,871,439 (GRCm39)	missense	possibly damaging	0.78
R5573:Ddx27	UTSW	2	166,859,806 (GRCm39)	missense	possibly damaging	0.87
R5606:Ddx27	UTSW	2	166,861,886 (GRCm39)	missense	probably benign	0.00
R6026:Ddx27	UTSW	2	166,875,560 (GRCm39)	missense	probably benign	0.00
R6699:Ddx27	UTSW	2	166,862,423 (GRCm39)	missense	possibly damaging	0.92
R6845:Ddx27	UTSW	2	166,864,016 (GRCm39)	missense	probably damaging	1.00
R6941:Ddx27	UTSW	2	166,857,297 (GRCm39)	missense	possibly damaging	0.93
R7352:Ddx27	UTSW	2	166,871,433 (GRCm39)	missense	probably benign	0.03
R7765:Ddx27	UTSW	2	166,869,879 (GRCm39)	missense	probably damaging	1.00
R8795:Ddx27	UTSW	2	166,859,730 (GRCm39)	missense	probably benign	0.01
R9220:Ddx27	UTSW	2	166,871,433 (GRCm39)	missense	probably benign	0.03
R9347:Ddx27	UTSW	2	166,861,950 (GRCm39)	missense	possibly damaging	0.91
Z1177:Ddx27	UTSW	2	166,875,761 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16