Mutagenetix > Incidental Mutation

Incidental Mutation 'R7765:Ddx27'

598169

Institutional Source

Beutler Lab

Gene Symbol

Ddx27

Ensembl Gene

ENSMUSG00000017999

Gene Name

DEAD box helicase 27

Synonyms

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

MMRRC Submission

045821-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166857233-166876865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166869879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 405 (F405I)

Ref Sequence

ENSEMBL: ENSMUSP00000018143 (fasta)

Gene Model

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

AlphaFold

Q921N6

Predicted Effect

probably damaging
Transcript: ENSMUST00000018143
AA Change: F405I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: F405I

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

Meta Mutation Damage Score

0.7185

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	C	14: 66,297,345 (GRCm39)	E187G	probably damaging	Het
Adam28	C	T	14: 68,846,555 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,559,160 (GRCm39)	T189M	probably damaging	Het
Apaf1	A	G	10: 90,859,644 (GRCm39)	Y845H	probably benign	Het
Asb14	G	T	14: 26,619,718 (GRCm39)	V55F	probably benign	Het
Brap	A	T	5: 121,800,192 (GRCm39)	D71V	probably damaging	Het
Ccdc93	T	G	1: 121,427,042 (GRCm39)	F610V	probably damaging	Het
Cfap46	T	G	7: 139,231,480 (GRCm39)	D911A		Het
Chn2	T	C	6: 54,275,137 (GRCm39)		probably null	Het
Cib3	A	G	8: 72,958,269 (GRCm39)	F156S	probably damaging	Het
Csnk2a1-ps3	G	A	1: 156,352,354 (GRCm39)	G185D	possibly damaging	Het
Ctif	A	T	18: 75,738,715 (GRCm39)	V164D	probably damaging	Het
Dnttip2	A	G	3: 122,069,594 (GRCm39)	T270A	probably benign	Het
Dst	T	A	1: 34,314,775 (GRCm39)	S4455T	probably damaging	Het
Efcab8	A	G	2: 153,685,110 (GRCm39)	K47R		Het
Efhd2	T	C	4: 141,601,886 (GRCm39)	E98G	probably damaging	Het
Fcmr	T	A	1: 130,802,025 (GRCm39)	L93Q	probably damaging	Het
Fhdc1	T	A	3: 84,351,906 (GRCm39)	E1106D	probably benign	Het
Gcnt1	C	T	19: 17,306,723 (GRCm39)	G334D	probably damaging	Het
Hltf	T	C	3: 20,145,647 (GRCm39)	F488L	probably benign	Het
Hmgxb4	C	A	8: 75,727,436 (GRCm39)	H140N	probably damaging	Het
Ifi214	A	T	1: 173,352,402 (GRCm39)	F342L	probably damaging	Het
Ip6k1	A	G	9: 107,909,288 (GRCm39)	D105G	possibly damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kif18a	G	A	2: 109,137,285 (GRCm39)	D506N	probably benign	Het
Klf17	T	A	4: 117,617,812 (GRCm39)	M182L	probably benign	Het
Kmt2d	A	G	15: 98,750,215 (GRCm39)	F2493L	unknown	Het
Lefty1	A	G	1: 180,764,112 (GRCm39)	E84G	probably damaging	Het
Lyst	T	G	13: 13,884,117 (GRCm39)	L2975R	possibly damaging	Het
Magea5	G	A	X: 153,837,174 (GRCm39)	P73S	possibly damaging	Het
Mctp2	T	C	7: 71,740,079 (GRCm39)		probably null	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Myh8	T	A	11: 67,194,481 (GRCm39)	I1564N	probably benign	Het
Npc1	A	T	18: 12,328,105 (GRCm39)	M1068K	probably benign	Het
Nr2e1	A	G	10: 42,450,433 (GRCm39)	C60R	probably benign	Het
Nrxn3	A	G	12: 89,780,254 (GRCm39)	I29V	probably benign	Het
Ntsr1	T	A	2: 180,180,610 (GRCm39)	H305Q	probably damaging	Het
Or2y1e	A	G	11: 49,218,571 (GRCm39)	E111G	probably damaging	Het
Or8g35	A	G	9: 39,381,612 (GRCm39)	S137P	probably benign	Het
Or8h10	T	A	2: 86,808,538 (GRCm39)	I201F	probably damaging	Het
Pate2	A	C	9: 35,581,197 (GRCm39)	E22D	probably benign	Het
Pcdhb22	A	G	18: 37,652,158 (GRCm39)	T209A	probably damaging	Het
Pdss2	C	T	10: 43,340,628 (GRCm39)	S352F	probably benign	Het
Pfn3	T	A	13: 55,562,900 (GRCm39)	D27V	probably damaging	Het
Pigg	T	G	5: 108,461,920 (GRCm39)	S84A	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Prss22	C	T	17: 24,213,592 (GRCm39)	G233E	probably damaging	Het
Rad51b	T	C	12: 79,850,044 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,970 (GRCm39)	V1632A	possibly damaging	Het
Serpinb3d	T	G	1: 107,007,512 (GRCm39)	D158A	probably damaging	Het
Sh3yl1	T	C	12: 31,008,868 (GRCm39)	L266P	probably damaging	Het
Sidt2	A	T	9: 45,852,873 (GRCm39)		probably null	Het
Stox1	C	T	10: 62,501,778 (GRCm39)	V261M	probably benign	Het
Taf7l2	T	A	10: 115,949,158 (GRCm39)	K123*	probably null	Het
Tll1	A	G	8: 64,504,483 (GRCm39)	Y638H	probably damaging	Het
Tst	A	T	15: 78,289,816 (GRCm39)	M73K	possibly damaging	Het
Tuba4a	C	T	1: 75,193,003 (GRCm39)	V232M	probably benign	Het
Unk	T	A	11: 115,943,908 (GRCm39)	V343D	probably benign	Het
Usf3	T	C	16: 44,039,426 (GRCm39)	V1302A	probably benign	Het
Usp32	A	T	11: 84,885,234 (GRCm39)	L1271H	probably damaging	Het
Vwa5b2	C	T	16: 20,413,361 (GRCm39)	P192L	probably benign	Het
Zfp995	A	G	17: 22,100,984 (GRCm39)	Y38H	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
IGL02141:Ddx27	APN	2	166,862,443 (GRCm39)	missense	possibly damaging	0.67
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
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

Predicted Primers

PCR Primer
(F):5'- CACCATGACAGATGAGGTGG -3'
(R):5'- TAGTCAACAGCACGGACTGAG -3'

Sequencing Primer
(F):5'- TGCCTCGTTGCGTGCAG -3'
(R):5'- CAACAGCACGGACTGAGGAAAC -3'

Posted On

2019-11-26