Mutagenetix > Incidental Mutation

Incidental Mutation 'R7503:Recql5'

581631

Institutional Source

Beutler Lab

Gene Symbol

Recql5

Ensembl Gene

ENSMUSG00000020752

Gene Name

RecQ protein-like 5

Synonyms

Recq5b, Recql5b

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R7503 (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 115895055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 631 (A631S)

Ref Sequence

ENSEMBL: ENSMUSP00000021097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000093911] [ENSMUST00000131578] [ENSMUST00000140174] [ENSMUST00000152171] [ENSMUST00000167507] [ENSMUST00000222123]

AlphaFold

Q8VID5

Predicted Effect

probably benign
Transcript: ENSMUST00000021097
AA Change: A631S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: A631S

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

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

probably benign
Transcript: ENSMUST00000152171

SMART Domains

Protein: ENSMUSP00000139148
Gene: ENSMUSG00000048442

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,215,937	D587G	possibly damaging	Het
A230072I06Rik	G	A	8: 12,279,554	G3D	unknown	Het
Aif1	A	T	17: 35,171,573	I67N	probably damaging	Het
Akap11	T	C	14: 78,512,001	D982G		Het
Anpep	A	G	7: 79,826,637	L827P	probably damaging	Het
Arhgef5	A	T	6: 43,273,999	K561N	probably benign	Het
Arsj	T	C	3: 126,364,844	F24S	probably benign	Het
Bard1	T	C	1: 71,030,836	D661G	probably damaging	Het
Cc2d2b	A	G	19: 40,794,612	I618V	unknown	Het
Cfap54	T	A	10: 92,887,436		probably null	Het
Cfhr2	T	A	1: 139,831,214	I33F	probably damaging	Het
Dsc1	G	A	18: 20,085,865	H827Y	probably damaging	Het
Eif3i	C	T	4: 129,600,414	D31N	probably damaging	Het
Eno1b	A	T	18: 48,046,811	T19S	probably damaging	Het
Eva1a	G	A	6: 82,071,229	W29*	probably null	Het
Evc	T	C	5: 37,300,767	K803R	unknown	Het
F5	T	A	1: 164,192,210	N751K	probably damaging	Het
Fam120a	A	T	13: 48,949,247	N177K	probably benign	Het
Farp2	T	G	1: 93,567,497	I164R	probably benign	Het
Gm20379	C	T	13: 92,306,057	P26L		Het
Gm4778	A	T	3: 94,266,473	M259L	probably benign	Het
Hmgcs2	T	C	3: 98,302,624	S433P	probably damaging	Het
Ints2	T	C	11: 86,232,055	T633A	probably benign	Het
Invs	C	T	4: 48,396,347	T340M	probably damaging	Het
Mef2c	A	C	13: 83,662,504	D391A	possibly damaging	Het
Msh4	A	C	3: 153,867,750	S756A	probably damaging	Het
Mylk3	T	C	8: 85,353,589	T490A	probably benign	Het
Myo1b	A	T	1: 51,776,602		probably null	Het
Nsmce1	A	G	7: 125,471,934	S107P	probably benign	Het
Olfr1173	T	C	2: 88,274,695	Y118C	probably damaging	Het
Olfr628	T	A	7: 103,732,267	S114T	probably damaging	Het
Pcdhb21	G	A	18: 37,514,975	D386N	probably benign	Het
Pcdhb22	T	G	18: 37,519,102	L208V	probably benign	Het
Pigu	C	T	2: 155,331,144		probably null	Het
Plcz1	T	A	6: 139,990,748	E585V	probably damaging	Het
Pnpla7	C	A	2: 24,983,532	C183*	probably null	Het
Pomgnt1	T	C	4: 116,152,752	V133A	possibly damaging	Het
Prl3d3	A	G	13: 27,161,113	Y156C	probably benign	Het
Prpf39	A	G	12: 65,053,393	D280G	probably benign	Het
Runx3	C	A	4: 135,155,368	N138K	probably damaging	Het
Scaper	T	C	9: 55,807,754	D750G	probably damaging	Het
Slc16a3	T	C	11: 120,957,027	L347P	probably damaging	Het
Slc25a1	G	T	16: 17,926,439	Y209*	probably null	Het
Smad2	A	G	18: 76,286,885	S88G	probably benign	Het
Sorcs1	A	G	19: 50,153,052	C1125R	probably benign	Het
Spata21	T	A	4: 141,095,303	I140N	probably benign	Het
Speer3	A	T	5: 13,793,334	D85V	probably benign	Het
Stra6	A	G	9: 58,151,245	N463S	possibly damaging	Het
Tmem14a	T	G	1: 21,229,399		probably null	Het
Tsc1	T	A	2: 28,687,076	L1130Q	possibly damaging	Het
Ttn	T	C	2: 76,781,057	D17377G	possibly damaging	Het
Utf1	A	G	7: 139,944,133	D87G	probably damaging	Het
Vmn2r6	G	A	3: 64,539,951	Q565*	probably null	Het
Vmn2r63	A	T	7: 42,933,590	M67K	probably benign	Het
Vmn2r90	T	C	17: 17,713,248	Y357H	not run	Het
Vmn2r97	A	G	17: 18,928,208	T122A	probably benign	Het
Wdhd1	T	C	14: 47,250,791	E753G	probably benign	Het
Wdr11	A	G	7: 129,603,110	N213S	probably benign	Het
Wdr66	G	T	5: 123,297,458	E994*	probably null	Het
Xdh	A	C	17: 73,926,210	D207E	probably damaging	Het
Zfp281	T	A	1: 136,626,940	I552N	possibly damaging	Het
Zzef1	T	A	11: 72,826,067	I361K	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
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
R8770:Recql5	UTSW	11	115897117	missense	probably benign	0.00
R8788:Recql5	UTSW	11	115895802	missense	probably benign
R9083:Recql5	UTSW	11	115894649	missense	possibly damaging	0.46
R9653:Recql5	UTSW	11	115897206	missense	probably benign	0.01
R9711:Recql5	UTSW	11	115893541	missense	probably damaging	1.00
X0026:Recql5	UTSW	11	115923261	missense	probably damaging	1.00
X0028:Recql5	UTSW	11	115894606	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGCACCGCTACTCAATG -3'
(R):5'- AGCTCATCTGCTGACTGGAG -3'

Sequencing Primer
(F):5'- AATGACCCTTTCTGACATCTGGGAG -3'
(R):5'- ACTGGAGGTGTGGCCATC -3'

Posted On

2019-10-17