Mutagenetix > Incidental Mutation

Incidental Mutation 'R8463:Recql5'

656676

Institutional Source

Beutler Lab

Gene Symbol

Recql5

Ensembl Gene

ENSMUSG00000020752

Gene Name

RecQ protein-like 5

Synonyms

Recq5b, Recql5b

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R8463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115892595-115933477 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 115896793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 512 (Q512*)

Ref Sequence

ENSEMBL: ENSMUSP00000021097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000093911] [ENSMUST00000131566] [ENSMUST00000131578] [ENSMUST00000140174] [ENSMUST00000142089] [ENSMUST00000152171] [ENSMUST00000167507] [ENSMUST00000222123]

AlphaFold

Q8VID5

Predicted Effect

probably null
Transcript: ENSMUST00000021097
AA Change: Q512*

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: Q512*

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: ENSMUST00000131566

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: ENSMUST00000142089

SMART Domains

Protein: ENSMUSP00000138928
Gene: ENSMUSG00000048442

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (64/65)

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
Abcg4	T	A	9: 44,281,612	I146F	probably damaging	Het
Adcy8	G	T	15: 64,921,025	D27E	probably benign	Het
Ahnak	A	G	19: 9,008,749	I2466V	probably benign	Het
BC005624	T	A	2: 30,981,805	E19V	possibly damaging	Het
Bnc2	A	T	4: 84,293,371	F279I	probably damaging	Het
Bub1	A	T	2: 127,817,433	L335M	probably benign	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954		probably benign	Het
Cdkn1c	G	A	7: 143,460,587	H41Y	possibly damaging	Het
Celsr1	G	A	15: 86,030,214	P1186L	probably damaging	Het
Cnot2	A	G	10: 116,517,331	L75S	probably benign	Het
Cntn6	A	T	6: 104,772,619	E338D	possibly damaging	Het
Dlg2	G	T	7: 91,968,233	M289I	probably benign	Het
Dzip1l	A	T	9: 99,637,822	D134V	possibly damaging	Het
Fam171b	A	G	2: 83,853,457	Y106C	probably damaging	Het
Fgd3	T	C	13: 49,266,605	K599E	possibly damaging	Het
Gabrr2	A	T	4: 33,084,375	I154F	probably damaging	Het
Gjd2	T	A	2: 114,011,572	E141D	probably benign	Het
Gmds	T	C	13: 31,819,923	N371S	probably benign	Het
Gp2	C	T	7: 119,454,331	A136T	probably damaging	Het
Gstm2	A	G	3: 107,986,356		probably null	Het
Hnmt	T	C	2: 24,048,824	M1V	probably null	Het
Hydin	T	C	8: 110,510,921	V1942A	probably benign	Het
Krt87	C	A	15: 101,434,625	A236S	probably benign	Het
Lama3	A	T	18: 12,449,839	H654L	probably damaging	Het
Lrp2	G	A	2: 69,491,906	T1893M	probably damaging	Het
Lyg1	A	T	1: 37,949,841	Y99*	probably null	Het
Mdga1	T	C	17: 29,849,729	D208G	probably damaging	Het
Mgarp	T	C	3: 51,388,927	E218G	probably damaging	Het
Mif4gd	T	A	11: 115,608,498	D186V	probably benign	Het
Mlec	T	C	5: 115,150,224	Y191C	probably damaging	Het
Mtus1	C	A	8: 41,083,234	V482L	probably benign	Het
Muc16	T	A	9: 18,659,139	T695S	unknown	Het
Muc4	A	T	16: 32,752,401	M760L	probably benign	Het
Mybl2	A	T	2: 163,074,718	S430C	probably damaging	Het
Nepn	A	G	10: 52,400,800	N211D	probably benign	Het
Nuggc	A	G	14: 65,613,562	T294A	probably damaging	Het
Olfr1140	A	T	2: 87,747,093	E299V	probably benign	Het
Olfr633	G	A	7: 103,946,627		probably null	Het
Pcca	A	G	14: 122,685,114		probably null	Het
Pcdhb13	T	G	18: 37,443,234	S222A	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Plppr3	A	T	10: 79,867,563	V29E	probably damaging	Het
Plxna2	C	T	1: 194,644,046	P96L	probably damaging	Het
Pop4	A	T	7: 38,263,175	*222R	probably null	Het
Prss2	T	A	6: 41,521,805	M1K	probably null	Het
Prss3	C	A	6: 41,375,125	R68L	probably benign	Het
Rnf148	A	G	6: 23,654,802	I65T	probably benign	Het
Scgb1b19	G	A	7: 33,287,657	A78T	probably benign	Het
Sftpd	A	G	14: 41,175,626		probably null	Het
Shank1	A	G	7: 44,354,181	R1766G	possibly damaging	Het
Slc35e2	T	C	4: 155,610,158	L54P	probably damaging	Het
Smg6	A	G	11: 74,930,060	K386E	probably benign	Het
Sorcs1	A	G	19: 50,259,810	S393P	probably damaging	Het
Spen	A	G	4: 141,522,279	V66A	unknown	Het
Tpm1	G	T	9: 67,048,230	A45E	probably benign	Het
Trmt2a	T	C	16: 18,251,175	Y294H	probably damaging	Het
Txnl4b	T	C	8: 109,572,798	V130A	possibly damaging	Het
Vmn2r14	C	A	5: 109,221,474	V78L	probably benign	Het
Vmn2r27	A	G	6: 124,192,209	V654A	probably damaging	Het
Wee2	G	T	6: 40,443,980	M1I	probably null	Het
Xpnpep3	A	G	15: 81,448,471	K403R	probably benign	Het
Zranb1	A	G	7: 132,950,081	T154A	possibly 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
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
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'- GGGACTGAGAGGTGGTACTC -3'
(R):5'- CGACACATGATCTCCCTGGG -3'

Sequencing Primer
(F):5'- ACTGGAGTCATGTGTCACCAC -3'
(R):5'- GGCCAGCACATCACTGTC -3'

Posted On

2021-01-18