Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02131:Recql5'

281183

Institutional Source

Australian Phenomics Network (link to record)

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: 0.492) question?

Stock #

IGL02131

Quality Score

Status

Chromosome

Chromosomal Location

115892595-115933477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115923242 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 86 (W86L)

Ref Sequence

ENSEMBL: ENSMUSP00000136178 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021097
AA Change: W359L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: W359L

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
AA Change: W86L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752
AA Change: W86L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134208
AA Change: W245L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000137157
Gene: ENSMUSG00000020752
AA Change: W245L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134391

Predicted Effect

probably benign
Transcript: ENSMUST00000140174

SMART Domains

Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156776

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	T	A	17: 79,627,655		probably benign	Het
Adamts19	A	G	18: 59,052,660	Y1202C	probably damaging	Het
Adgrf1	T	A	17: 43,303,747	F241I	probably damaging	Het
Ankrd11	A	T	8: 122,894,410	I901N	probably damaging	Het
Anxa8	A	T	14: 34,090,631	D46V	possibly damaging	Het
Ap4e1	A	G	2: 127,061,929	Y917C	probably benign	Het
Arhgap40	G	A	2: 158,531,939		probably null	Het
Dnah17	A	G	11: 118,072,908	V2513A	probably damaging	Het
Dnhd1	T	C	7: 105,720,802	L4478P	probably damaging	Het
Dtx3	T	C	10: 127,193,279	D30G	probably damaging	Het
Fat2	A	G	11: 55,309,042	Y1069H	probably damaging	Het
Fbxo21	T	A	5: 118,002,090	N538K	possibly damaging	Het
Frem1	T	C	4: 82,924,854	T1748A	probably benign	Het
Kcnh6	T	C	11: 106,020,175	Y466H	probably damaging	Het
Kif2c	G	A	4: 117,177,953	S41L	possibly damaging	Het
Kir3dl2	T	A	X: 136,457,713	H52L	possibly damaging	Het
Mageb18	A	G	X: 92,120,049	C196R	possibly damaging	Het
Mrpl9	T	A	3: 94,444,713		probably null	Het
Nt5c1b	A	G	12: 10,375,491	I345V	possibly damaging	Het
Olfr137	T	A	17: 38,304,648	H271L	probably benign	Het
Olfr251	A	G	9: 38,377,907	T9A	probably benign	Het
Olfr517	T	C	7: 108,868,208	*315W	probably null	Het
Parp8	T	C	13: 116,910,873	N221S	probably benign	Het
Plbd1	T	C	6: 136,661,683		probably benign	Het
Rgs6	T	C	12: 83,069,495	S232P	probably damaging	Het
Rnf182	A	G	13: 43,668,342	H123R	probably benign	Het
Rtf2	A	G	2: 172,466,292	T204A	unknown	Het
Sema4d	T	C	13: 51,702,937		probably null	Het
Sept8	T	C	11: 53,537,857	S408P	possibly damaging	Het
Serpini1	A	G	3: 75,640,704	N396D	probably benign	Het
Slc26a2	A	C	18: 61,198,812	F516V	possibly damaging	Het
Tcf4	A	G	18: 69,564,626		probably benign	Het
Trrap	G	T	5: 144,840,436	G3045W	probably damaging	Het
Tspo2	T	A	17: 48,449,061	T91S	possibly damaging	Het
Ttn	T	C	2: 76,737,614	D27645G	probably damaging	Het
Uba6	G	T	5: 86,150,077	T246K	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Wwp2	T	A	8: 107,552,318	M136K	probably damaging	Het
Zranb3	A	T	1: 127,992,951	V412D	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
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
R8025:Recql5	UTSW	11	115928112	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
R8463:Recql5	UTSW	11	115896793	nonsense	probably null
X0026:Recql5	UTSW	11	115923261	missense	probably damaging	1.00
X0028:Recql5	UTSW	11	115894606	missense	probably benign

Posted On

2015-04-16