Mutagenetix > Incidental Mutation

Incidental Mutation 'R1945:Recql5'

216610

Institutional Source

Beutler Lab

Gene Symbol

Recql5

Ensembl Gene

ENSMUSG00000020752

Gene Name

RecQ protein-like 5

Synonyms

Recql5b, Recq5b

MMRRC Submission

039963-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R1945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115783421-115824303 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 115819123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 148 (R148*)

Ref Sequence

ENSEMBL: ENSMUSP00000136506 (fasta)

Gene Model

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

AlphaFold

Q8VID5

Predicted Effect

probably null
Transcript: ENSMUST00000021097
AA Change: R148*

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: R148*

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

noncoding transcript
Transcript: ENSMUST00000134391

Predicted Effect

probably null
Transcript: ENSMUST00000140174
AA Change: R148*

SMART Domains

Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752
AA Change: R148*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156776

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,653,549 (GRCm39)	I33V	unknown	Het
Abca1	ACGTCTTCACCAGGTAATC	AC	4: 53,061,509 (GRCm39)		probably null	Het
Amotl2	T	C	9: 102,597,753 (GRCm39)	S171P	probably benign	Het
Armh4	T	A	14: 50,005,940 (GRCm39)	E585V	probably damaging	Het
Atf6	A	T	1: 170,682,710 (GRCm39)	V34E	probably benign	Het
Atrip	T	A	9: 108,900,935 (GRCm39)	I135F	probably damaging	Het
Bglap	A	G	3: 88,290,971 (GRCm39)	Y87H	probably damaging	Het
Camk2n1	G	A	4: 138,184,094 (GRCm39)	V78I	possibly damaging	Het
Ccdc92b	A	G	11: 74,520,835 (GRCm39)	I46V	probably benign	Het
Cdc14b	T	C	13: 64,367,704 (GRCm39)	Y208C	probably damaging	Het
Cdc42bpb	C	T	12: 111,265,567 (GRCm39)	R1455Q	probably damaging	Het
Cep170	C	A	1: 176,621,100 (GRCm39)	G26*	probably null	Het
Cfap46	A	G	7: 139,259,819 (GRCm39)	F217S	probably damaging	Het
Col11a2	A	T	17: 34,278,142 (GRCm39)	D691V	probably damaging	Het
Col7a1	G	A	9: 108,789,078 (GRCm39)	V798I	unknown	Het
Coq8b	CGCA	CGCAGCA	7: 26,933,405 (GRCm39)		probably benign	Het
Coq8b	GCA	GCAACA	7: 26,933,406 (GRCm39)		probably benign	Het
Dcaf5	T	C	12: 80,385,468 (GRCm39)	D886G	probably benign	Het
Ern1	A	G	11: 106,312,776 (GRCm39)	S202P	probably damaging	Het
Etaa1	A	G	11: 17,897,233 (GRCm39)	C295R	probably damaging	Het
Ghdc	C	T	11: 100,660,031 (GRCm39)	A239T	probably benign	Het
Grik4	T	C	9: 42,432,300 (GRCm39)	D899G	possibly damaging	Het
Hacd2	C	A	16: 34,922,354 (GRCm39)	T181K	possibly damaging	Het
Havcr2	T	C	11: 46,345,877 (GRCm39)	L17P	unknown	Het
Herc3	T	C	6: 58,864,424 (GRCm39)	V686A	probably damaging	Het
Hyal3	T	C	9: 107,462,671 (GRCm39)	L235P	probably damaging	Het
Itgb4	C	T	11: 115,884,279 (GRCm39)	Q988*	probably null	Het
Itprid2	T	C	2: 79,492,996 (GRCm39)	V1181A	probably benign	Het
Krt32	T	A	11: 99,975,670 (GRCm39)		probably null	Het
Krt33a	T	C	11: 99,903,535 (GRCm39)	N199S	probably benign	Het
Lama1	T	A	17: 68,052,848 (GRCm39)	S394T	probably benign	Het
Lamp1	T	C	8: 13,222,545 (GRCm39)	V243A	probably benign	Het
Loxhd1	A	G	18: 77,492,504 (GRCm39)	Y1315C	probably damaging	Het
Macf1	A	T	4: 123,384,453 (GRCm39)	L1148*	probably null	Het
Mill2	A	G	7: 18,575,419 (GRCm39)	H42R	probably benign	Het
Myo15a	T	C	11: 60,392,909 (GRCm39)	F2194L	probably damaging	Het
Myo15b	A	T	11: 115,769,224 (GRCm39)	I1472F	probably damaging	Het
Nasp	T	C	4: 116,479,965 (GRCm39)	S36G	possibly damaging	Het
Nav2	A	G	7: 49,114,620 (GRCm39)	Y868C	probably damaging	Het
Niban1	T	C	1: 151,571,979 (GRCm39)	I308T	probably damaging	Het
Nono	T	C	X: 100,485,429 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,164,588 (GRCm39)	I1154F	possibly damaging	Het
Npc1l1	C	T	11: 6,175,199 (GRCm39)	W592*	probably null	Het
Nsg2	T	C	11: 32,005,068 (GRCm39)	V90A	probably damaging	Het
Odf4	T	C	11: 68,812,983 (GRCm39)	N225S	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or1j12	T	C	2: 36,343,043 (GRCm39)	W149R	probably damaging	Het
Or4c123	T	C	2: 89,127,128 (GRCm39)	Y162C	probably damaging	Het
Pcdhb4	A	T	18: 37,441,921 (GRCm39)	R410S	probably damaging	Het
Pde6c	T	A	19: 38,145,967 (GRCm39)	D418E	probably damaging	Het
Pik3ap1	A	T	19: 41,262,776 (GRCm39)	S799T	probably benign	Het
Pitx2	A	G	3: 129,012,185 (GRCm39)	N198S	probably damaging	Het
Psmb3	T	C	11: 97,601,981 (GRCm39)	F117S	probably benign	Het
Ptprq	A	T	10: 107,418,249 (GRCm39)	M1709K	probably benign	Het
Reep3	A	G	10: 66,871,678 (GRCm39)	S97P	probably damaging	Het
Rnase12	T	A	14: 51,294,463 (GRCm39)	Q72L	possibly damaging	Het
Scd3	T	C	19: 44,224,219 (GRCm39)	Y151H	probably benign	Het
Scn10a	A	T	9: 119,520,520 (GRCm39)	S127T	possibly damaging	Het
Scn7a	A	T	2: 66,506,324 (GRCm39)	W1522R	probably damaging	Het
Senp7	A	G	16: 55,944,309 (GRCm39)	H211R	probably damaging	Het
Septin10	C	T	10: 59,016,841 (GRCm39)		probably null	Het
Serpinb6d	T	C	13: 33,851,663 (GRCm39)	V140A	possibly damaging	Het
Sned1	A	G	1: 93,198,960 (GRCm39)	E457G	probably benign	Het
Spag17	A	C	3: 99,847,298 (GRCm39)	M76L	probably benign	Het
Spata31e2	C	A	1: 26,721,395 (GRCm39)	V1262F	probably benign	Het
Spata31e3	C	T	13: 50,399,527 (GRCm39)	G933E	probably damaging	Het
Sspo	A	T	6: 48,466,707 (GRCm39)	E105V	possibly damaging	Het
Stoml3	T	A	3: 53,412,866 (GRCm39)	D173E	possibly damaging	Het
Sun3	T	C	11: 8,988,296 (GRCm39)	I9V	probably benign	Het
Svil	T	C	18: 5,117,059 (GRCm39)	W2165R	probably damaging	Het
Tbl2	T	A	5: 135,186,454 (GRCm39)	S184T	possibly damaging	Het
Tdrd7	A	T	4: 45,965,474 (GRCm39)	T31S	probably benign	Het
Tmeff1	A	G	4: 48,614,960 (GRCm39)	N139S	possibly damaging	Het
Trip13	T	C	13: 74,076,043 (GRCm39)	R199G	probably damaging	Het
Tshb	G	T	3: 102,684,831 (GRCm39)	Y124*	probably null	Het
Ttn	T	C	2: 76,560,366 (GRCm39)	E29345G	probably damaging	Het
Usp33	T	A	3: 152,085,223 (GRCm39)	S620T	probably benign	Het
Vipr1	G	A	9: 121,497,540 (GRCm39)	G353R	probably damaging	Het
Vipr1	G	T	9: 121,497,541 (GRCm39)	G353V	probably damaging	Het
Vps13c	A	T	9: 67,793,558 (GRCm39)	D437V	probably damaging	Het
Ylpm1	T	A	12: 85,062,192 (GRCm39)	S240T	probably damaging	Het
Zfp772	A	G	7: 7,206,629 (GRCm39)	I354T	probably benign	Het
Zfp959	T	A	17: 56,204,231 (GRCm39)	Y86*	probably null	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
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	115,784,781 (GRCm39)	missense	probably benign	0.00
R3881:Recql5	UTSW	11	115,784,780 (GRCm39)	missense	probably benign
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
R7135:Recql5	UTSW	11	115,821,498 (GRCm39)	splice 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'- ACACATCCTCTTGAACCTGTGG -3'
(R):5'- TGAGGACTCATGATGCTCCAC -3'

Sequencing Primer
(F):5'- CCTGTGGGGTGGCTGTAGC -3'
(R):5'- ACCAGGTAGACCATTTGCTG -3'

Posted On

2014-08-01