Mutagenetix > Incidental Mutation

Incidental Mutation 'R7658:Recql5'

591379

Institutional Source

Beutler Lab

Gene Symbol

Recql5

Ensembl Gene

ENSMUSG00000020752

Gene Name

RecQ protein-like 5

Synonyms

Recq5b, Recql5b

MMRRC Submission

045703-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R7658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115892595-115933477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115923276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 348 (S348T)

Ref Sequence

ENSEMBL: ENSMUSP00000021097 (fasta)

Gene Model

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

AlphaFold

Q8VID5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021097
AA Change: S348T

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

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: S348T

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 damaging
Transcript: ENSMUST00000131578
AA Change: S75T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752
AA Change: S75T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134208
AA Change: S234T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137157
Gene: ENSMUSG00000020752
AA Change: S234T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	G	T	16: 89,063,730	S72Y	unknown	Het
6430531B16Rik	T	C	7: 139,976,618	N152S	probably benign	Het
Abca8b	T	A	11: 109,935,717	K1568N	probably benign	Het
Adcy6	T	A	15: 98,596,067	Y865F	probably benign	Het
Adgrf3	A	T	5: 30,197,206	V608D	probably benign	Het
Agbl1	G	T	7: 76,766,369	A965S	unknown	Het
Agbl3	C	T	6: 34,832,508	P690L	probably benign	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Amt	A	C	9: 108,297,231	H65P	probably damaging	Het
Ankrd11	T	A	8: 122,893,664	T1150S	probably benign	Het
Arhgap15	A	C	2: 44,142,268	H288P	probably benign	Het
Arhgap39	A	T	15: 76,737,417	M328K	probably benign	Het
Arhgef12	T	C	9: 42,992,536	K743R	probably damaging	Het
Atg2a	T	G	19: 6,251,263	V789G	probably damaging	Het
Ccdc54	T	C	16: 50,590,481	T141A	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdh5	T	C	8: 104,129,401		probably null	Het
Cdkl3	T	C	11: 52,027,182	V404A	not run	Het
Chrm2	A	T	6: 36,523,249	I14F	probably benign	Het
Cnbp	T	C	6: 87,845,276	K89E	possibly damaging	Het
Cntn6	T	A	6: 104,650,483	D92E	probably benign	Het
Col15a1	T	C	4: 47,245,591	F114S	possibly damaging	Het
Csrnp1	A	G	9: 119,972,403	F530S	probably benign	Het
Dcun1d3	C	T	7: 119,857,668	V274M	probably damaging	Het
Dph2	T	A	4: 117,890,281	H302L	possibly damaging	Het
Fam162a	A	T	16: 36,046,400	Y118*	probably null	Het
Fam186a	A	G	15: 99,939,844	Y2840H	unknown	Het
Fto	A	G	8: 91,666,322	K466E	probably benign	Het
Gal	T	A	19: 3,413,309	Y41F	probably damaging	Het
Gigyf2	A	T	1: 87,419,138	L620F	unknown	Het
Git2	C	T	5: 114,766,489	R123H	probably damaging	Het
Glud1	A	T	14: 34,311,157	E87V	probably benign	Het
Gm21190	T	G	5: 15,527,925	E94A	possibly damaging	Het
Gm5592	T	C	7: 41,288,710	V472A	probably benign	Het
Gpc5	T	A	14: 115,428,208	N481K	possibly damaging	Het
Gpn2	A	G	4: 133,591,376	E304G	probably benign	Het
Gsdmc2	T	C	15: 63,825,054	T423A	probably damaging	Het
Gucy2e	G	A	11: 69,226,229	Q789*	probably null	Het
Gxylt2	T	A	6: 100,783,143	V213E	probably damaging	Het
Ighv1-75	G	A	12: 115,834,111	L64F	possibly damaging	Het
Il17re	T	C	6: 113,458,982	C30R	probably benign	Het
Il7	G	T	3: 7,604,082	D31E	probably benign	Het
Ints4	T	C	7: 97,529,253	Y687H	possibly damaging	Het
Kdelr1	T	G	7: 45,882,977	V202G	probably benign	Het
Khnyn	C	A	14: 55,887,139	Y283*	probably null	Het
Klf11	T	C	12: 24,653,671	V52A	probably damaging	Het
Klhl7	A	G	5: 24,141,286	N310S	probably benign	Het
Krt27	A	T	11: 99,349,486	L202Q	possibly damaging	Het
Lce1d	A	G	3: 92,686,047	C20R	unknown	Het
Lim2	A	T	7: 43,433,630	I80F	possibly damaging	Het
Lrrk2	T	A	15: 91,700,358	F326Y	possibly damaging	Het
Lyst	A	T	13: 13,730,476	Y3246F	possibly damaging	Het
Mafb	T	A	2: 160,366,435	H81L	possibly damaging	Het
Mfsd5	G	A	15: 102,280,877	R228H	probably benign	Het
Mmp1b	A	T	9: 7,386,675	F150I	possibly damaging	Het
Mthfd1	T	A	12: 76,270,435	L20Q	probably damaging	Het
Mxra8	A	G	4: 155,842,963	T402A	probably benign	Het
Ndc80	A	T	17: 71,508,663	L376M	probably damaging	Het
Nsd1	A	T	13: 55,277,639	R1536S	probably damaging	Het
Nup210l	C	A	3: 90,211,993	H1874Q	probably benign	Het
Nyap1	T	C	5: 137,732,974	H776R	probably benign	Het
Patj	C	A	4: 98,688,179	H1773Q	probably damaging	Het
Pax8	T	A	2: 24,436,511	T280S	probably benign	Het
Pcdhb19	A	G	18: 37,498,981	T610A	probably damaging	Het
Pde2a	A	G	7: 101,511,581	D919G	possibly damaging	Het
Pdk2	T	A	11: 95,028,965	Y240F	probably damaging	Het
Peg3	A	T	7: 6,709,610	I871N	probably damaging	Het
Pex1	A	T	5: 3,596,244		probably benign	Het
Pgm2l1	C	T	7: 100,250,328	R50W	probably damaging	Het
Phkg1	T	A	5: 129,865,923	K262N	probably damaging	Het
Pik3r4	A	G	9: 105,644,511	E92G	probably damaging	Het
Prmt6	A	T	3: 110,250,385	V196E	possibly damaging	Het
Ptprn2	T	G	12: 116,722,119	M66R	probably benign	Het
Rai14	C	T	15: 10,593,103	G152R	probably damaging	Het
Rfk	T	G	19: 17,398,682		probably null	Het
Selenbp1	A	T	3: 94,944,102	M389L	probably benign	Het
Sipa1l2	G	A	8: 125,492,290	R103C	probably benign	Het
Slc10a6	T	A	5: 103,629,190	S15C	probably damaging	Het
Slc12a2	G	T	18: 57,932,524	V944L	probably benign	Het
Slc16a11	T	A	11: 70,215,317	L127Q	possibly damaging	Het
St6gal1	A	G	16: 23,356,228	Y272C	probably damaging	Het
Stab2	C	A	10: 86,981,135	V133F	probably benign	Het
Stradb	G	A	1: 58,992,726	V266I	probably damaging	Het
Tmem150b	A	G	7: 4,720,759	W140R	probably benign	Het
Tnnt3	A	T	7: 142,512,096	K157*	probably null	Het
Trove2	T	C	1: 143,770,873	T45A	probably damaging	Het
Ttn	T	G	2: 76,723,769	K30863N	probably damaging	Het
Vldlr	G	A	19: 27,243,136	R592H	probably benign	Het
Vmn1r12	A	T	6: 57,158,898		probably benign	Het
Vmn2r63	A	C	7: 42,925,269	S519R	probably damaging	Het
Zbtb22	G	C	17: 33,918,497	E539Q	probably damaging	Het
Zbtb44	G	A	9: 31,054,079	A262T	probably benign	Het
Zfp280d	A	T	9: 72,324,072	N455I	probably damaging	Het
Zfp287	T	C	11: 62,725,263	N201D	probably damaging	Het
Zfp988	T	C	4: 147,332,294	L395P	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
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'- CTAGTTACACAAGCTCTCCAGGATC -3'
(R):5'- CAGCTGCCTGTGACTTACTC -3'

Sequencing Primer
(F):5'- TCTCCAGGATCAGCACGAG -3'
(R):5'- GCCTGTGACTTACTCCAGAATCTG -3'

Posted On

2019-11-12