Mutagenetix > Incidental Mutations

Incidental Mutation 'R5323:Recql5'

404979

Institutional Source

Beutler Lab

Gene Symbol

Recql5

Ensembl Gene

ENSMUSG00000020752

Gene Name

RecQ protein-like 5

Synonyms

Recq5b, Recql5b

MMRRC Submission

042906-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.514) question?

Stock #

R5323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115892595-115933477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115927389 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 159 (C159S)

Ref Sequence

ENSEMBL: ENSMUSP00000137157 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021097
AA Change: C273S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: C273S

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 damaging
Transcript: ENSMUST00000134208
AA Change: C159S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137157
Gene: ENSMUSG00000020752
AA Change: C159S

Domain	Start	End	E-Value	Type
Blast:DEXDc	25	96	4e-34	BLAST
HELICc	160	241	8.68e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134391

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: ENSMUST00000144824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156776

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	A	7: 82,557,061	C784S	probably damaging	Het
Ahnak2	A	T	12: 112,779,812		probably benign	Het
Apon	A	G	10: 128,255,038	E195G	probably damaging	Het
Atxn10	A	G	15: 85,391,743	I334V	probably benign	Het
Camsap1	G	T	2: 25,965,811	A145E	probably damaging	Het
Capns1	G	T	7: 30,187,722	F243L	possibly damaging	Het
Catsper2	A	T	2: 121,406,735	I228N	probably damaging	Het
Ceacam14	A	T	7: 17,815,477	*264C	probably null	Het
Cel	A	C	2: 28,560,518	V165G	probably damaging	Het
Cldnd1	T	A	16: 58,729,653	D66E	possibly damaging	Het
Cntnap5b	T	A	1: 100,383,550	C589*	probably null	Het
Dnah3	T	A	7: 120,021,011	H1554L	probably damaging	Het
Fbxw25	T	A	9: 109,663,505	M55L	probably benign	Het
Fn1	T	C	1: 71,597,432	H2187R	probably benign	Het
Fsip2	A	G	2: 82,988,145	T4741A	possibly damaging	Het
Gabpa	T	A	16: 84,857,046	I272N	possibly damaging	Het
Ganab	T	C	19: 8,908,685	S212P	probably benign	Het
Ggt1	A	G	10: 75,585,661		probably null	Het
Hpgds	T	C	6: 65,132,185	T81A	probably benign	Het
Insr	G	A	8: 3,202,902	T419I	probably benign	Het
Itgb7	A	G	15: 102,231,624		probably benign	Het
Kcnt1	A	G	2: 25,909,277	I951V	possibly damaging	Het
Lrrc4c	T	A	2: 97,630,153	C375S	probably damaging	Het
Muc3	G	T	5: 137,146,689	C44*	probably null	Het
Mycbpap	A	T	11: 94,503,504	D313E	probably benign	Het
Neo1	A	G	9: 58,906,648		probably null	Het
Ntsr2	C	T	12: 16,659,933	S405F	probably benign	Het
Nup153	G	A	13: 46,717,206	P21S	probably benign	Het
Obscn	T	A	11: 58,996,877	E7705D	probably benign	Het
Ogn	A	G	13: 49,609,341	D53G	probably benign	Het
Olfr116	A	T	17: 37,624,155	I160K	probably benign	Het
Olfr1505	A	T	19: 13,919,616	I199F	possibly damaging	Het
Olfr175-ps1	G	A	16: 58,824,703	T2I	probably benign	Het
Olfr467	T	C	7: 107,814,676	F33L	possibly damaging	Het
Olfr976	A	T	9: 39,956,829	Y35*	probably null	Het
Pde6a	G	A	18: 61,232,911	R236H	possibly damaging	Het
Pigk	T	A	3: 152,738,200	M85K	probably damaging	Het
Pirb	A	C	7: 3,716,599	I516S	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Pum2	T	A	12: 8,744,706	I737N	probably damaging	Het
Rxrg	A	G	1: 167,625,004	N125S	probably benign	Het
Sgip1	C	A	4: 102,966,280	N699K	probably damaging	Het
Shprh	G	A	10: 11,170,297		probably null	Het
Smcp	C	T	3: 92,584,147	G131D	unknown	Het
St8sia6	A	G	2: 13,793,377	L23P	possibly damaging	Het
Stk32c	T	A	7: 139,119,360	T335S	probably benign	Het
Stox1	G	A	10: 62,664,033	A916V	possibly damaging	Het
Syk	A	T	13: 52,631,717	T297S	probably benign	Het
Tert	G	T	13: 73,648,371	A1074S	probably benign	Het
Tex9	A	T	9: 72,477,905	D135E	probably damaging	Het
Tmem132a	G	A	19: 10,864,007	H318Y	possibly damaging	Het
Ttn	A	G	2: 76,907,905	S4097P	probably benign	Het
Ush2a	A	T	1: 188,821,677		probably null	Het
Usp36	A	T	11: 118,265,194	S586T	probably benign	Het
Vsig8	A	G	1: 172,560,677	S71G	probably benign	Het
Zfp318	G	A	17: 46,386,736	D173N	probably damaging	Het
Zfp638	T	A	6: 83,962,094	S936T	probably damaging	Het
Zic2	A	G	14: 122,476,316	Y214C	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
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
R8770:Recql5	UTSW	11	115897117	missense	not run
X0026:Recql5	UTSW	11	115923261	missense	probably damaging	1.00
X0028:Recql5	UTSW	11	115894606	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCAGAGTCACCGGTTTCTAG -3'
(R):5'- AAGTGATGAGCCCTGTTGG -3'

Sequencing Primer
(F):5'- GGGATTGAGTAAATCACTTTAGCTC -3'
(R):5'- GCTGTCCCGCCTCAGAGAAG -3'

Posted On

2016-07-22