Mutagenetix > Incidental Mutations

Incidental Mutation 'R8025:Recql5'

617661

Institutional Source

Beutler Lab

Gene Symbol

Recql5

Ensembl Gene

ENSMUSG00000020752

Gene Name

RecQ protein-like 5

Synonyms

Recq5b, Recql5b

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

R8025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115892595-115933477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115928112 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 209 (L209F)

Ref Sequence

ENSEMBL: ENSMUSP00000021097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000131578] [ENSMUST00000134208] [ENSMUST00000140174]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021097
AA Change: L209F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: L209F

Domain	Start	End	E-Value	Type
DEXDc	25	230	1.13e-29	SMART
HELICc	274	355	8.68e-22	SMART
Pfam:RecQ_Zn_bind	366	436	1.8e-12	PFAM
low complexity region	472	499	N/A	INTRINSIC
PDB:4BK0\|B	516	621	2e-51	PDB
Pfam:RecQ5	626	818	3.1e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131578

SMART Domains

Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752

Domain	Start	End	E-Value	Type
HELICc	1	82	8.68e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000134208
AA Change: L95F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137157
Gene: ENSMUSG00000020752
AA Change: L95F

Domain	Start	End	E-Value	Type
Blast:DEXDc	25	96	4e-34	BLAST
HELICc	160	241	8.68e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140174
AA Change: L209F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752
AA Change: L209F

Domain	Start	End	E-Value	Type
DEXDc	25	230	1.13e-29	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene express elevated levels of sister chromatid exchange due to a failure to suppress crossovers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	G	3: 79,629,328	L51R	probably damaging	Het
Actl7b	T	C	4: 56,741,137	T74A	probably damaging	Het
Aip	C	A	19: 4,115,346	A207S	probably benign	Het
AL732309.1	A	G	2: 25,246,319		probably benign	Het
Apcdd1	G	T	18: 62,936,908	C82F	probably damaging	Het
Arhgap42	T	G	9: 9,005,822	I736L	probably benign	Het
Armc4	A	T	18: 7,127,224	N996K	probably benign	Het
Baz1a	A	T	12: 54,909,136	I1056N	probably benign	Het
Bzw2	T	C	12: 36,107,518	E316G	probably damaging	Het
Carns1	A	T	19: 4,166,506	I559N	probably damaging	Het
Ccdc144b	C	A	3: 36,018,987	R382L	probably damaging	Het
Chrnb2	A	T	3: 89,761,342	V222E	probably damaging	Het
Cngb3	A	T	4: 19,280,960	N10Y	possibly damaging	Het
Dennd1b	A	G	1: 139,110,420	K267E		Het
Dhx32	A	G	7: 133,721,371	Y705H	probably damaging	Het
Dnah7c	G	A	1: 46,457,296	V114I	probably benign	Het
Dnah8	T	A	17: 30,741,337	C2229*	probably null	Het
Gm14401	T	C	2: 177,086,456	F112L	probably damaging	Het
Gm9573	GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	17: 35,620,987		probably benign	Het
Habp4	G	A	13: 64,174,831	R238H	probably benign	Het
Herpud1	A	G	8: 94,392,521	Y301C	probably damaging	Het
Itih5	G	A	2: 10,241,022	A641T	probably benign	Het
Kcns3	A	T	12: 11,091,845	N284K	probably damaging	Het
Mcrs1	G	A	15: 99,246,933	Q267*	probably null	Het
Midn	G	A	10: 80,155,292	A379T	probably benign	Het
Olfr1028	A	T	2: 85,951,512	I150F	probably benign	Het
Olfr462	A	T	11: 87,888,951		probably null	Het
Olfr561	T	C	7: 102,775,256	V244A	probably benign	Het
Olfr716	A	G	7: 107,147,723	M136V	possibly damaging	Het
Olfr869	T	C	9: 20,137,632	V172A	probably benign	Het
Parpbp	T	C	10: 88,093,108	D490G	probably benign	Het
Pcbp2	T	A	15: 102,488,276	S262R	probably benign	Het
Pcdhgc5	T	C	18: 37,820,939	I422T	possibly damaging	Het
Pcsk5	T	A	19: 17,561,051		probably benign	Het
Plxna1	G	A	6: 89,331,272	R1278W	probably damaging	Het
Polr1c	A	G	17: 46,245,048	L162P	probably damaging	Het
Rasl2-9	A	G	7: 5,125,482	S150P	probably damaging	Het
Raver2	C	A	4: 101,102,965	S214*	probably null	Het
Rbpjl	C	A	2: 164,410,246		probably benign	Het
Rec114	T	G	9: 58,660,322	E127A	possibly damaging	Het
Rgs11	T	C	17: 26,204,385		probably null	Het
Rgs3	C	A	4: 62,690,594	H366N	probably damaging	Het
Rnf148	C	T	6: 23,654,197	D267N	possibly damaging	Het
Scn1a	T	C	2: 66,318,213	N1007S	probably benign	Het
Sdcbp	A	G	4: 6,393,022	T220A	probably benign	Het
Sema5a	A	G	15: 32,548,782	N134S	probably benign	Het
Smg1	G	A	7: 118,206,989	Q210*	probably null	Het
Snx7	A	G	3: 117,832,877	V328A	probably benign	Het
Sult1c2	A	T	17: 53,831,809	S247T	probably benign	Het
Tceanc2	C	T	4: 107,139,800		probably null	Het
Tead3	T	C	17: 28,335,035	D141G	probably benign	Het
Tmem136	T	A	9: 43,111,553	T169S	probably benign	Het
Ube3b	T	C	5: 114,408,209	M692T	probably damaging	Het
Vmn1r188	T	C	13: 22,087,914	F13L	probably benign	Het
Vmn2r3	A	G	3: 64,275,450	V276A	possibly damaging	Het
Vmn2r57	A	G	7: 41,426,759	I443T	probably benign	Het
Vps33a	T	C	5: 123,558,675	N305S	possibly damaging	Het
Vps33b	A	T	7: 80,290,346		probably benign	Het
Wdr34	T	C	2: 30,048,718	Q51R	probably benign	Het
Wdr72	T	A	9: 74,143,499	M91K	probably benign	Het
Xylb	T	C	9: 119,381,503	F351L	probably damaging	Het
Zan	C	T	5: 137,406,352	D3883N	unknown	Het
Zfp82	T	A	7: 30,056,853	H268L	probably damaging	Het

Other mutations in Recql5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Recql5	APN	11	115897181	missense	probably benign	0.04
IGL01589:Recql5	APN	11	115894669	missense	probably damaging	1.00
IGL02040:Recql5	APN	11	115932797	missense	possibly damaging	0.89
IGL02131:Recql5	APN	11	115923242	missense	probably benign	0.01
IGL02198:Recql5	APN	11	115894673	missense	probably benign	0.00
IGL02236:Recql5	APN	11	115894030	missense	probably benign	0.01
IGL02501:Recql5	APN	11	115895091	missense	probably benign	0.26
IGL02980:Recql5	APN	11	115893944	splice site	probably null
IGL03028:Recql5	APN	11	115894431	missense	possibly damaging	0.94
PIT4581001:Recql5	UTSW	11	115932856	missense	possibly damaging	0.53
R0152:Recql5	UTSW	11	115894673	missense	probably benign
R0269:Recql5	UTSW	11	115928224	missense	possibly damaging	0.91
R0317:Recql5	UTSW	11	115894673	missense	probably benign
R0511:Recql5	UTSW	11	115928383	missense	probably benign	0.00
R0786:Recql5	UTSW	11	115895802	missense	probably benign
R0975:Recql5	UTSW	11	115923256	missense	probably damaging	1.00
R1170:Recql5	UTSW	11	115897234	missense	probably damaging	0.98
R1208:Recql5	UTSW	11	115893156	missense	probably damaging	0.98
R1208:Recql5	UTSW	11	115893156	missense	probably damaging	0.98
R1807:Recql5	UTSW	11	115895115	missense	possibly damaging	0.63
R1872:Recql5	UTSW	11	115923309	missense	probably benign	0.15
R1878:Recql5	UTSW	11	115895101	missense	probably benign	0.00
R1935:Recql5	UTSW	11	115897191	missense	probably benign	0.00
R1936:Recql5	UTSW	11	115897191	missense	probably benign	0.00
R1945:Recql5	UTSW	11	115928297	nonsense	probably null
R2011:Recql5	UTSW	11	115897097	missense	probably benign	0.20
R2012:Recql5	UTSW	11	115897097	missense	probably benign	0.20
R2023:Recql5	UTSW	11	115893640	missense	probably benign
R2183:Recql5	UTSW	11	115896787	missense	probably benign	0.00
R3881:Recql5	UTSW	11	115893954	missense	probably benign
R3881:Recql5	UTSW	11	115893955	missense	probably benign	0.00
R4093:Recql5	UTSW	11	115904888	missense	probably benign	0.05
R4857:Recql5	UTSW	11	115928212	missense	probably damaging	1.00
R5245:Recql5	UTSW	11	115893559	missense	probably damaging	1.00
R5323:Recql5	UTSW	11	115927389	missense	probably damaging	1.00
R5796:Recql5	UTSW	11	115927865	intron	probably benign
R6160:Recql5	UTSW	11	115932787	critical splice donor site	probably null
R6229:Recql5	UTSW	11	115930714	missense	probably damaging	0.96
R6824:Recql5	UTSW	11	115923212	missense	possibly damaging	0.83
R7013:Recql5	UTSW	11	115894576	missense	probably benign	0.02
R7043:Recql5	UTSW	11	115930676	critical splice donor site	probably null
R7135:Recql5	UTSW	11	115930672	splice site	probably null
R7354:Recql5	UTSW	11	115928201	missense	probably damaging	1.00
R7373:Recql5	UTSW	11	115928372	missense	possibly damaging	0.92
R7503:Recql5	UTSW	11	115895055	missense	probably benign	0.00
R7574:Recql5	UTSW	11	115928422	missense	probably benign
R7597:Recql5	UTSW	11	115928381	missense	probably benign	0.03
R7658:Recql5	UTSW	11	115923276	missense	probably damaging	1.00
R8038:Recql5	UTSW	11	115927352	missense	possibly damaging	0.90
R8316:Recql5	UTSW	11	115894035	missense	possibly damaging	0.46
X0026:Recql5	UTSW	11	115923261	missense	probably damaging	1.00
X0028:Recql5	UTSW	11	115894606	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAACTAGGAAACAGTAGCTGTGTC -3'
(R):5'- ATTCCCTGGTGTCCCGAAAC -3'

Sequencing Primer
(F):5'- CAGACAGCATTTTGGACTGC -3'
(R):5'- GAAACCTGCTCTCCTACTTGGTGG -3'

Posted On

2020-01-23