Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02198:Recql5'

284115

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: 0.426) question?

Stock #

IGL02198

Quality Score

Status

Chromosome

Chromosomal Location

115892595-115933477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115894673 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 666 (S666A)

Ref Sequence

ENSEMBL: ENSMUSP00000021097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000093911] [ENSMUST00000131578] [ENSMUST00000140174] [ENSMUST00000167507] [ENSMUST00000222123]

Predicted Effect

probably benign
Transcript: ENSMUST00000021097
AA Change: S666A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: S666A

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: ENSMUST00000093911

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427

Domain	Start	End	E-Value	Type
MYSc	1	640	2.4e-134	SMART
IQ	660	682	1.03e1	SMART
Pfam:MyTH4	837	945	2.1e-23	PFAM
low complexity region	1050	1068	N/A	INTRINSIC
low complexity region	1136	1170	N/A	INTRINSIC
low complexity region	1207	1246	N/A	INTRINSIC
low complexity region	1302	1327	N/A	INTRINSIC
low complexity region	1454	1468	N/A	INTRINSIC
low complexity region	1489	1509	N/A	INTRINSIC
SH3	1735	1792	1.15e-7	SMART
Pfam:MyTH4	1928	2029	8.3e-25	PFAM
B41	2032	2235	6.99e-4	SMART
low complexity region	2243	2253	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000132447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136774

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: ENSMUST00000141947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147172

Predicted Effect

probably benign
Transcript: ENSMUST00000167507

SMART Domains

Protein: ENSMUSP00000129226
Gene: ENSMUSG00000034427

Domain	Start	End	E-Value	Type
Pfam:MyTH4	100	205	3.1e-24	PFAM
B41	207	410	6.99e-4	SMART
low complexity region	418	428	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222123

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	G	2: 131,546,492	I381T	probably damaging	Het
Armt1	T	A	10: 4,454,064	F383Y	possibly damaging	Het
Cdca2	A	G	14: 67,694,996	V486A	probably benign	Het
Cep78	A	G	19: 15,956,369	L615S	probably damaging	Het
Clec2h	C	A	6: 128,674,016	C86*	probably null	Het
Cntnap5a	C	T	1: 116,580,532	T1258I	probably benign	Het
Dhrs7c	T	A	11: 67,815,802	M262K	possibly damaging	Het
Dmpk	C	A	7: 19,088,192	F332L	probably damaging	Het
Dyx1c1	G	A	9: 72,969,066	V308I	probably benign	Het
Fap	A	G	2: 62,554,798	F73L	probably benign	Het
Igsf10	A	T	3: 59,325,978	I1778N	possibly damaging	Het
Il6ra	T	C	3: 89,890,348	T71A	probably benign	Het
Itpr2	C	A	6: 146,323,227	A1389S	probably damaging	Het
Mob3b	T	C	4: 35,083,983	N69D	probably damaging	Het
Nr1h3	A	G	2: 91,192,725	W21R	probably damaging	Het
Olfr1305	A	T	2: 111,873,248	N202K	probably damaging	Het
Ovca2	A	G	11: 75,178,770	V9A	possibly damaging	Het
Ovch2	T	A	7: 107,794,834	K137N	probably damaging	Het
Pabpc1l	A	G	2: 164,027,616	N112S	probably damaging	Het
Plekho1	T	A	3: 95,992,184	N99I	probably damaging	Het
Scn3a	G	T	2: 65,508,489	H615Q	probably benign	Het
Sel1l3	A	G	5: 53,139,799		probably benign	Het
Slc38a2	A	T	15: 96,692,377	S328T	probably damaging	Het
Taok1	T	C	11: 77,575,677		probably benign	Het
Tsnax	T	A	8: 125,032,712	Y237*	probably null	Het
Ttn	T	A	2: 76,714,630	K24382N	probably damaging	Het
Ugt1a9	T	A	1: 88,071,443	V205E	possibly damaging	Het
Unc80	C	A	1: 66,529,986	D933E	possibly damaging	Het
Vnn1	A	T	10: 23,903,425	T411S	probably benign	Het
Wdr27	C	A	17: 14,908,598	G531V	possibly damaging	Het
Zfp760	G	T	17: 21,722,212	V123L	probably benign	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
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
X0026:Recql5	UTSW	11	115923261	missense	probably damaging	1.00
X0028:Recql5	UTSW	11	115894606	missense	probably benign

Posted On

2015-04-16