Mutagenetix > Incidental Mutation

Incidental Mutation 'R8770:Recql5'

664367

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: 0.488) question?

Stock #

R8770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115892595-115933477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115897117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 459 (I459V)

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 benign
Transcript: ENSMUST00000021097
AA Change: I459V

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

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: I459V

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 13,883,937		probably null	Het
Aox2	A	T	1: 58,339,604	K1004M	probably benign	Het
Atn1	C	T	6: 124,745,638		probably null	Het
Atp8b4	T	C	2: 126,342,995	Y916C	probably damaging	Het
BC030867	A	G	11: 102,255,150	N84S	probably benign	Het
Bicd1	T	C	6: 149,518,950	L766S	probably damaging	Het
Bmpr2	T	G	1: 59,845,525	D223E	probably benign	Het
Bpifc	T	G	10: 85,965,265	R406S	probably damaging	Het
Ccl6	A	G	11: 83,588,832	I115T	possibly damaging	Het
Cdcp1	A	T	9: 123,177,861	I607N	possibly damaging	Het
Cdyl2	T	C	8: 116,595,083	Y235C	probably damaging	Het
Clns1a	A	G	7: 97,713,910	Q163R	probably benign	Het
Cntn3	T	A	6: 102,277,316	M222L	possibly damaging	Het
Cpn1	A	G	19: 43,963,769	V358A	probably damaging	Het
Dchs1	G	A	7: 105,771,738	R492W	probably damaging	Het
Dmxl2	T	C	9: 54,404,014	T1808A	probably benign	Het
Dnah10	A	G	5: 124,775,346	I1880V	possibly damaging	Het
Dscam	T	C	16: 96,654,906	E1274G	possibly damaging	Het
Dtwd1	A	G	2: 126,154,807	T71A	probably damaging	Het
Dusp4	T	A	8: 34,807,784	M19K	probably benign	Het
Fam46a	A	G	9: 85,326,750	Y7H	probably benign	Het
Fbxo39	T	C	11: 72,318,459	F382L	probably damaging	Het
Fbxw20	A	T	9: 109,217,528	C455S	probably benign	Het
Fcmr	T	A	1: 130,876,062	V201E	probably benign	Het
Galnt2	C	T	8: 124,334,286	R306*	probably null	Het
Gpr156	A	G	16: 38,004,612	E397G	possibly damaging	Het
Gzmf	A	T	14: 56,206,494	V73D	probably damaging	Het
Laptm4b	T	C	15: 34,258,697	V39A	possibly damaging	Het
Mlf2	C	A	6: 124,934,296	H91Q	probably benign	Het
Mylk3	T	A	8: 85,364,831	E115V	probably damaging	Het
Myo6	A	G	9: 80,264,199	E494G	unknown	Het
Myo7b	C	T	18: 31,981,071	D1076N	probably benign	Het
Neurl1b	A	G	17: 26,431,913	D53G	probably damaging	Het
Noc4l	A	G	5: 110,648,892	L508P	possibly damaging	Het
Nup210l	C	A	3: 90,118,543	F157L	probably damaging	Het
Ogdh	T	C	11: 6,355,336	Y959H	probably damaging	Het
Olfr1246	A	G	2: 89,590,827	M96T	probably benign	Het
Olfr159	T	G	4: 43,770,813	N66T	probably damaging	Het
Pik3ap1	A	G	19: 41,328,160	Y264H	possibly damaging	Het
Plb1	T	C	5: 32,247,509	Y4H	unknown	Het
Rad21	A	G	15: 51,968,353	I444T	probably benign	Het
Scaf1	T	C	7: 45,006,705	T917A	unknown	Het
Sdc4	C	T	2: 164,428,902	V146I	probably damaging	Het
Serpina6	T	C	12: 103,653,939	S184G	probably benign	Het
Shkbp1	C	A	7: 27,351,886	R218S	possibly damaging	Het
Slc17a3	A	G	13: 23,855,624	D255G		Het
Slc7a2	T	G	8: 40,899,230	V110G	probably damaging	Het
Slf1	A	C	13: 77,046,647	V853G	probably damaging	Het
Smarcad1	T	C	6: 65,052,734	V102A	probably benign	Het
Sobp	T	C	10: 43,160,792	K50R	probably damaging	Het
Spink10	A	T	18: 62,653,461	R47S	probably benign	Het
Sspo	T	A	6: 48,474,272	F2720Y	probably null	Het
Tdrkh	T	A	3: 94,429,133	V459D	probably damaging	Het
Tlcd2	T	A	11: 75,469,804	D224E	probably damaging	Het
Tln2	T	A	9: 67,323,022	Q87L	probably benign	Het
Tmem131	A	T	1: 36,799,105		probably benign	Het
Tmem63a	G	A	1: 180,962,396	G378R	probably benign	Het
Trank1	C	A	9: 111,390,824	Q2210K	probably benign	Het
Trim24	T	A	6: 37,957,500		probably benign	Het
Trim37	T	A	11: 87,159,849	I238N	probably damaging	Het
Vps39	A	T	2: 120,323,067	D675E	probably benign	Het
Wdr63	T	C	3: 146,046,543	T793A	probably benign	Het
Zfp229	T	A	17: 21,745,814	C342S	probably damaging	Het
Zfp759	A	G	13: 67,140,353	H656R	probably damaging	Het
Zfp994	T	C	17: 22,200,999	Y323C	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
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
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'- CATACCTAAAGGACAGGCTAGG -3'
(R):5'- AGGATGAGCCAACACTAGCC -3'

Sequencing Primer
(F):5'- ATGCAGGGGCTCTGTCCTTC -3'
(R):5'- TGAGCCAACACTAGCCACCTC -3'

Posted On

2021-03-08