Mutagenetix > Incidental Mutation

Incidental Mutation 'R6699:Ddx27'

528675

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: 0.967) question?

Stock #

R6699 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

167015193-167034947 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 167020503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 155 (T155I)

Ref Sequence

ENSEMBL: ENSMUSP00000135815 (fasta)

Gene Model

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

AlphaFold

Q921N6

Predicted Effect

probably benign
Transcript: ENSMUST00000018143
AA Change: T155I

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: T155I

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: T155I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135265
Gene: ENSMUSG00000017999
AA Change: T155I

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

possibly damaging
Transcript: ENSMUST00000176066
AA Change: T155I

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135815
Gene: ENSMUSG00000017999
AA Change: T155I

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,144,368	T894A	probably damaging	Het
Adam39	A	G	8: 40,826,657	K695R	probably benign	Het
Agfg1	G	A	1: 82,858,454		probably null	Het
Ankrd44	G	A	1: 54,762,445	T241I	probably damaging	Het
Car15	T	C	16: 17,836,574	D166G	probably null	Het
Cpne2	G	A	8: 94,563,959	V391M	probably damaging	Het
F830045P16Rik	T	C	2: 129,460,421	D417G	probably damaging	Het
Fam217b	T	G	2: 178,420,417	M58R	probably benign	Het
Ftmt	T	C	18: 52,331,665	S18P	possibly damaging	Het
Gm16494	C	T	17: 47,016,908	V17M	probably damaging	Het
Gm36864	A	T	7: 44,238,772	I342F	possibly damaging	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Hist1h4k	A	T	13: 21,750,504	M1K	probably null	Het
Hmgcr	T	C	13: 96,660,209	E191G	probably damaging	Het
Hrc	A	G	7: 45,335,695	D90G	possibly damaging	Het
Kbtbd7	A	G	14: 79,428,192	E488G	probably benign	Het
Krtap26-1	T	C	16: 88,647,715	N6S	unknown	Het
Mgat2	A	G	12: 69,184,781	D43G	probably damaging	Het
Mrps30	A	T	13: 118,380,598	S362T	probably damaging	Het
Olfr1124	A	T	2: 87,434,816	I110F	probably benign	Het
Olfr224	T	A	11: 58,567,205	I47L	possibly damaging	Het
Pcdhb11	T	A	18: 37,422,937	V440E	probably damaging	Het
Pcdhb18	T	A	18: 37,491,952	H778Q	probably benign	Het
Plekha7	T	C	7: 116,135,175	E1025G	probably damaging	Het
Rnf39	T	C	17: 36,947,229	W96R	probably damaging	Het
Rph3al	A	T	11: 75,900,837		probably benign	Het
Rrm1	T	A	7: 102,460,825	Y556N	probably damaging	Het
Saal1	A	T	7: 46,692,817	C401S	probably damaging	Het
Sec14l3	T	C	11: 4,075,193	S268P	possibly damaging	Het
Tmem54	A	G	4: 129,111,325	I199M	probably benign	Het
Tomm70a	A	G	16: 57,142,802	M395V	probably benign	Het
Topors	A	G	4: 40,262,300	V328A	probably damaging	Het
Vmn2r61	T	G	7: 42,300,156	S667A	probably benign	Het
Vmn2r68	G	A	7: 85,232,375	A499V	possibly damaging	Het
Zcchc14	A	T	8: 121,608,616		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
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

Predicted Primers

PCR Primer
(F):5'- TAAGAGCCTGCCATCTACACTG -3'
(R):5'- TGCCAAAGCTACTACCTTCAGG -3'

Sequencing Primer
(F):5'- ATCTACACTGTACTCACTAGGCTAG -3'
(R):5'- CTGGAAGGACAGGCTTTTGTC -3'

Posted On

2018-07-24