Mutagenetix > Incidental Mutation

Incidental Mutation 'R7135:Recql5'

568680

Institutional Source

Beutler Lab

Gene Symbol

Recql5

Ensembl Gene

ENSMUSG00000020752

Gene Name

RecQ protein-like 5

Synonyms

Recql5b, Recq5b

MMRRC Submission

045247-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115783421-115824303 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 115821498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000131578] [ENSMUST00000134208] [ENSMUST00000140174] [ENSMUST00000140991]

AlphaFold

Q8VID5

Predicted Effect

probably null
Transcript: ENSMUST00000021097

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752

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

SMART Domains

Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134208

SMART Domains

Protein: ENSMUSP00000137157
Gene: ENSMUSG00000020752

Domain	Start	End	E-Value	Type
Blast:DEXDc	25	96	4e-34	BLAST
HELICc	160	241	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: ENSMUST00000140991

SMART Domains

Protein: ENSMUSP00000114844
Gene: ENSMUSG00000020755

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	4	81	2e-3	SMART
Pfam:HCNGP	119	213	6.5e-38	PFAM
low complexity region	224	248	N/A	INTRINSIC
low complexity region	263	289	N/A	INTRINSIC

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (83/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,887 (GRCm39)	Y221*	probably null	Het
AC166344.1	T	A	14: 43,158,245 (GRCm39)	F97I		Het
Ankmy2	T	C	12: 36,246,311 (GRCm39)	S412P	probably benign	Het
Ap1s3	T	C	1: 79,586,919 (GRCm39)	T144A	probably benign	Het
Armh2	T	C	13: 24,925,489 (GRCm39)	S78P	probably benign	Het
Asb3	T	A	11: 30,948,501 (GRCm39)	L59*	probably null	Het
Asxl3	G	T	18: 22,650,758 (GRCm39)	G916*	probably null	Het
Asxl3	G	C	18: 22,650,759 (GRCm39)	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,762 (GRCm39)	F610V	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,549,855 (GRCm39)	S343P	probably benign	Het
Ccnk	T	A	12: 108,152,734 (GRCm39)	L17Q	probably damaging	Het
Cd59b	G	A	2: 103,914,792 (GRCm39)	W63*	probably null	Het
Chrm3	C	T	13: 9,927,837 (GRCm39)	V400I	probably benign	Het
Crb1	C	A	1: 139,171,105 (GRCm39)	V762F	probably damaging	Het
Cspp1	C	T	1: 10,159,161 (GRCm39)	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,446 (GRCm39)	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,826,393 (GRCm39)	G90V	probably damaging	Het
Cyld	T	A	8: 89,471,520 (GRCm39)	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,738,318 (GRCm39)	V160I	probably benign	Het
Dgkg	T	C	16: 22,319,132 (GRCm39)	D643G	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah12	T	G	14: 26,523,370 (GRCm39)	I1953S	probably damaging	Het
Dnah7b	T	C	1: 46,178,870 (GRCm39)	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,572,368 (GRCm39)	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,556,872 (GRCm39)		probably null	Het
Dsp	A	T	13: 38,363,049 (GRCm39)	Y443F	probably damaging	Het
Espl1	T	A	15: 102,227,959 (GRCm39)	C1603*	probably null	Het
Faiml	G	T	9: 99,116,496 (GRCm39)	R65S	probably benign	Het
Gfpt2	T	C	11: 49,695,782 (GRCm39)	I4T	probably damaging	Het
Gm10376	T	A	14: 42,867,950 (GRCm39)	M179L	probably benign	Het
Gm4302	T	A	10: 100,177,589 (GRCm39)	M291K	unknown	Het
Gnb1l	T	A	16: 18,363,918 (GRCm39)	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,681,727 (GRCm39)	R38G	possibly damaging	Het
Inmt	A	T	6: 55,148,013 (GRCm39)	Y205*	probably null	Het
Krba1	A	G	6: 48,393,233 (GRCm39)	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,810,683 (GRCm39)	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,294,019 (GRCm39)	I89F	probably damaging	Het
Map9	A	T	3: 82,270,765 (GRCm39)	T110S	probably benign	Het
Mccc1	T	C	3: 36,049,967 (GRCm39)	Y75C	probably damaging	Het
Mff	T	A	1: 82,724,812 (GRCm39)	L203*	probably null	Het
Micall1	C	A	15: 78,993,624 (GRCm39)	D47E	unknown	Het
Mink1	T	C	11: 70,494,329 (GRCm39)	F243S	probably damaging	Het
Mlycd	C	T	8: 120,129,216 (GRCm39)	R228W	probably damaging	Het
Msr1	A	T	8: 40,042,465 (GRCm39)	V370E	possibly damaging	Het
Naip6	T	C	13: 100,436,927 (GRCm39)	E532G	probably damaging	Het
Nepn	G	A	10: 52,267,815 (GRCm39)	C27Y	probably damaging	Het
Ninl	T	C	2: 150,797,524 (GRCm39)	H592R	probably benign	Het
Nr4a2	A	G	2: 57,002,261 (GRCm39)	M64T	possibly damaging	Het
Oprm1	A	T	10: 6,780,203 (GRCm39)	I171F	possibly damaging	Het
Or4g16	T	A	2: 111,137,365 (GRCm39)	F272I	probably benign	Het
Or5p60	T	C	7: 107,723,781 (GRCm39)	K230E	probably damaging	Het
Pcbp1	A	T	6: 86,502,488 (GRCm39)	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,306,524 (GRCm39)	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,017,683 (GRCm39)		probably null	Het
Pecam1	T	C	11: 106,579,857 (GRCm39)	I402V	probably damaging	Het
Pex12	T	C	11: 83,188,468 (GRCm39)	T176A	probably benign	Het
Phf3	T	C	1: 30,870,190 (GRCm39)	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,320,760 (GRCm39)	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,374 (GRCm39)		probably null	Het
Plekhn1	A	G	4: 156,307,792 (GRCm39)	V378A	probably benign	Het
Pramel26	A	T	4: 143,537,233 (GRCm39)	L366Q	probably damaging	Het
Ptprm	A	T	17: 67,251,283 (GRCm39)	D531E	possibly damaging	Het
Pum2	A	T	12: 8,778,952 (GRCm39)	Q508L	possibly damaging	Het
Rad54l	A	G	4: 115,963,027 (GRCm39)	S324P	probably damaging	Het
Reln	A	T	5: 22,181,594 (GRCm39)	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,418,391 (GRCm39)	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,318,209 (GRCm39)	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Sim1	A	G	10: 50,772,023 (GRCm39)	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,447,059 (GRCm39)	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,344,270 (GRCm39)	G10S	probably null	Het
Speer1j	C	T	5: 11,555,198 (GRCm39)	P83S	probably damaging	Het
Stxbp3	A	G	3: 108,708,071 (GRCm39)	L410P	probably damaging	Het
Sugct	T	C	13: 17,476,594 (GRCm39)	N297D	probably benign	Het
Syne1	A	G	10: 5,183,409 (GRCm39)	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,750,912 (GRCm39)	L240F	probably damaging	Het
Tlr5	C	A	1: 182,803,088 (GRCm39)	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,249,643 (GRCm39)	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,773,572 (GRCm39)	A419D		Het
Ttc28	T	C	5: 111,427,873 (GRCm39)	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,006,327 (GRCm39)	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,372,253 (GRCm39)	D276E	possibly damaging	Het
Wdfy3	C	T	5: 102,063,303 (GRCm39)	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,229,830 (GRCm39)	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,559,161 (GRCm39)	S357P	unknown	Het

Other mutations in Recql5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Recql5	APN	11	115,788,007 (GRCm39)	missense	probably benign	0.04
IGL01589:Recql5	APN	11	115,785,495 (GRCm39)	missense	probably damaging	1.00
IGL02040:Recql5	APN	11	115,823,623 (GRCm39)	missense	possibly damaging	0.89
IGL02131:Recql5	APN	11	115,814,068 (GRCm39)	missense	probably benign	0.01
IGL02198:Recql5	APN	11	115,785,499 (GRCm39)	missense	probably benign	0.00
IGL02236:Recql5	APN	11	115,784,856 (GRCm39)	missense	probably benign	0.01
IGL02501:Recql5	APN	11	115,785,917 (GRCm39)	missense	probably benign	0.26
IGL02980:Recql5	APN	11	115,784,770 (GRCm39)	splice site	probably null
IGL03028:Recql5	APN	11	115,785,257 (GRCm39)	missense	possibly damaging	0.94
PIT4581001:Recql5	UTSW	11	115,823,682 (GRCm39)	missense	possibly damaging	0.53
R0152:Recql5	UTSW	11	115,785,499 (GRCm39)	missense	probably benign
R0269:Recql5	UTSW	11	115,819,050 (GRCm39)	missense	possibly damaging	0.91
R0317:Recql5	UTSW	11	115,785,499 (GRCm39)	missense	probably benign
R0511:Recql5	UTSW	11	115,819,209 (GRCm39)	missense	probably benign	0.00
R0786:Recql5	UTSW	11	115,786,628 (GRCm39)	missense	probably benign
R0975:Recql5	UTSW	11	115,814,082 (GRCm39)	missense	probably damaging	1.00
R1170:Recql5	UTSW	11	115,788,060 (GRCm39)	missense	probably damaging	0.98
R1208:Recql5	UTSW	11	115,783,982 (GRCm39)	missense	probably damaging	0.98
R1208:Recql5	UTSW	11	115,783,982 (GRCm39)	missense	probably damaging	0.98
R1807:Recql5	UTSW	11	115,785,941 (GRCm39)	missense	possibly damaging	0.63
R1872:Recql5	UTSW	11	115,814,135 (GRCm39)	missense	probably benign	0.15
R1878:Recql5	UTSW	11	115,785,927 (GRCm39)	missense	probably benign	0.00
R1935:Recql5	UTSW	11	115,788,017 (GRCm39)	missense	probably benign	0.00
R1936:Recql5	UTSW	11	115,788,017 (GRCm39)	missense	probably benign	0.00
R1945:Recql5	UTSW	11	115,819,123 (GRCm39)	nonsense	probably null
R2011:Recql5	UTSW	11	115,787,923 (GRCm39)	missense	probably benign	0.20
R2012:Recql5	UTSW	11	115,787,923 (GRCm39)	missense	probably benign	0.20
R2023:Recql5	UTSW	11	115,784,466 (GRCm39)	missense	probably benign
R2183:Recql5	UTSW	11	115,787,613 (GRCm39)	missense	probably benign	0.00
R3881:Recql5	UTSW	11	115,784,780 (GRCm39)	missense	probably benign
R3881:Recql5	UTSW	11	115,784,781 (GRCm39)	missense	probably benign	0.00
R4093:Recql5	UTSW	11	115,795,714 (GRCm39)	missense	probably benign	0.05
R4857:Recql5	UTSW	11	115,819,038 (GRCm39)	missense	probably damaging	1.00
R5245:Recql5	UTSW	11	115,784,385 (GRCm39)	missense	probably damaging	1.00
R5323:Recql5	UTSW	11	115,818,215 (GRCm39)	missense	probably damaging	1.00
R5796:Recql5	UTSW	11	115,818,691 (GRCm39)	intron	probably benign
R6160:Recql5	UTSW	11	115,823,613 (GRCm39)	critical splice donor site	probably null
R6229:Recql5	UTSW	11	115,821,540 (GRCm39)	missense	probably damaging	0.96
R6824:Recql5	UTSW	11	115,814,038 (GRCm39)	missense	possibly damaging	0.83
R7013:Recql5	UTSW	11	115,785,402 (GRCm39)	missense	probably benign	0.02
R7043:Recql5	UTSW	11	115,821,502 (GRCm39)	critical splice donor site	probably null
R7354:Recql5	UTSW	11	115,819,027 (GRCm39)	missense	probably damaging	1.00
R7373:Recql5	UTSW	11	115,819,198 (GRCm39)	missense	possibly damaging	0.92
R7503:Recql5	UTSW	11	115,785,881 (GRCm39)	missense	probably benign	0.00
R7574:Recql5	UTSW	11	115,819,248 (GRCm39)	missense	probably benign
R7597:Recql5	UTSW	11	115,819,207 (GRCm39)	missense	probably benign	0.03
R7658:Recql5	UTSW	11	115,814,102 (GRCm39)	missense	probably damaging	1.00
R8025:Recql5	UTSW	11	115,818,938 (GRCm39)	missense	probably damaging	1.00
R8038:Recql5	UTSW	11	115,818,178 (GRCm39)	missense	possibly damaging	0.90
R8316:Recql5	UTSW	11	115,784,861 (GRCm39)	missense	possibly damaging	0.46
R8463:Recql5	UTSW	11	115,787,619 (GRCm39)	nonsense	probably null
R8770:Recql5	UTSW	11	115,787,943 (GRCm39)	missense	probably benign	0.00
R8788:Recql5	UTSW	11	115,786,628 (GRCm39)	missense	probably benign
R9083:Recql5	UTSW	11	115,785,475 (GRCm39)	missense	possibly damaging	0.46
R9653:Recql5	UTSW	11	115,788,032 (GRCm39)	missense	probably benign	0.01
R9711:Recql5	UTSW	11	115,784,367 (GRCm39)	missense	probably damaging	1.00
X0026:Recql5	UTSW	11	115,814,087 (GRCm39)	missense	probably damaging	1.00
X0028:Recql5	UTSW	11	115,785,432 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTACAGGTAATGGCATATGAATG -3'
(R):5'- ACAAATCGCTTCTTCAGAGGTG -3'

Sequencing Primer
(F):5'- CAGGTAATGGCATATGAATGAAGTG -3'
(R):5'- AAATCGCTTCTTCAGAGGTGTTAGTG -3'

Posted On

2019-09-11