Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Recql'

532370

Institutional Source

Beutler Lab

Gene Symbol

Recql

Ensembl Gene

ENSMUSG00000030243

Gene Name

RecQ protein-like

Synonyms

RecQ1

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142296068-142332802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142310278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 517 (D517E)

Ref Sequence

ENSEMBL: ENSMUSP00000107434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032370] [ENSMUST00000041852] [ENSMUST00000100832] [ENSMUST00000111803]

AlphaFold

Q9Z129

Predicted Effect

probably benign
Transcript: ENSMUST00000032370
AA Change: D517E

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032370
Gene: ENSMUSG00000030243
AA Change: D517E

Domain	Start	End	E-Value	Type
coiled coil region	6	51	N/A	INTRINSIC
DEXDc	88	291	2.5e-27	SMART
HELICc	328	409	2.2e-26	SMART
Pfam:RQC	488	592	5.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041852

SMART Domains

Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	8	234	2.2e-18	PFAM
Pfam:Pyr_redox_2	266	381	4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100832
AA Change: D517E

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098394
Gene: ENSMUSG00000030243
AA Change: D517E

Domain	Start	End	E-Value	Type
coiled coil region	6	51	N/A	INTRINSIC
DEXDc	88	291	6e-25	SMART
HELICc	328	409	5.51e-24	SMART
Pfam:RQC	488	592	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111803
AA Change: D517E

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107434
Gene: ENSMUSG00000030243
AA Change: D517E

Domain	Start	End	E-Value	Type
coiled coil region	6	51	N/A	INTRINSIC
DEXDc	88	291	6e-25	SMART
HELICc	328	409	5.51e-24	SMART
Pfam:RecQ_Zn_bind	420	479	2.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123912

Predicted Effect

unknown
Transcript: ENSMUST00000141504
AA Change: D106E

SMART Domains

Protein: ENSMUSP00000119452
Gene: ENSMUSG00000030243
AA Change: D106E

Domain	Start	End	E-Value	Type
Pfam:RecQ_Zn_bind	10	69	7.1e-16	PFAM
Pfam:RQC	73	187	2.5e-8	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

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 member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutation of this gene results in chromosomal instability, with embryonic fibroblasts exhibiting aneuploidy, spontaneous chromosomal breakage, frequent translocation events, increased sensitivity to ionizing radiation, and increased frequency of sister chromatid exchange. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	C	A	4: 56,744,116 (GRCm39)	Y214*	probably null	Het
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Aif1	C	T	17: 35,390,472 (GRCm39)	V93M	probably damaging	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Bcs1l	C	T	1: 74,629,844 (GRCm39)	R224C	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Dock8	A	T	19: 25,160,386 (GRCm39)	H1763L	possibly damaging	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm12695	A	G	4: 96,651,058 (GRCm39)	S132P	probably damaging	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Pkdrej	T	C	15: 85,702,850 (GRCm39)	T1029A	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Stox2	A	C	8: 47,639,500 (GRCm39)	F898C	probably damaging	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Trim71	T	A	9: 114,341,772 (GRCm39)	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	probably damaging	Het

Other mutations in Recql

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Recql	APN	6	142,322,647 (GRCm39)	missense	probably null	0.34
IGL01933:Recql	APN	6	142,310,364 (GRCm39)	missense	probably benign	0.33
IGL02026:Recql	APN	6	142,312,394 (GRCm39)	nonsense	probably null
IGL03181:Recql	APN	6	142,323,918 (GRCm39)	missense	probably benign	0.00
K3955:Recql	UTSW	6	142,323,932 (GRCm39)	nonsense	probably null
R0380:Recql	UTSW	6	142,315,156 (GRCm39)	missense	probably damaging	1.00
R1371:Recql	UTSW	6	142,318,601 (GRCm39)	missense	probably damaging	0.99
R1742:Recql	UTSW	6	142,310,298 (GRCm39)	missense	probably damaging	1.00
R1780:Recql	UTSW	6	142,310,324 (GRCm39)	missense	probably benign	0.00
R1921:Recql	UTSW	6	142,311,315 (GRCm39)	missense	probably benign	0.41
R2032:Recql	UTSW	6	142,313,009 (GRCm39)	missense	probably damaging	1.00
R2966:Recql	UTSW	6	142,309,313 (GRCm39)	missense	probably benign	0.10
R4666:Recql	UTSW	6	142,322,567 (GRCm39)	missense	probably damaging	1.00
R4779:Recql	UTSW	6	142,309,426 (GRCm39)	intron	probably benign
R4863:Recql	UTSW	6	142,304,732 (GRCm39)	utr 3 prime	probably benign
R5115:Recql	UTSW	6	142,304,285 (GRCm39)	utr 3 prime	probably benign
R5400:Recql	UTSW	6	142,308,073 (GRCm39)	intron	probably benign
R5781:Recql	UTSW	6	142,311,344 (GRCm39)	splice site	probably null
R5981:Recql	UTSW	6	142,318,604 (GRCm39)	missense	probably damaging	1.00
R6372:Recql	UTSW	6	142,322,566 (GRCm39)	missense	probably damaging	1.00
R6651:Recql	UTSW	6	142,310,160 (GRCm39)	critical splice donor site	probably null
R7399:Recql	UTSW	6	142,320,610 (GRCm39)	missense	probably damaging	1.00
R7515:Recql	UTSW	6	142,320,611 (GRCm39)	missense	probably damaging	1.00
R8097:Recql	UTSW	6	142,320,637 (GRCm39)	missense	probably damaging	1.00
R8817:Recql	UTSW	6	142,304,612 (GRCm39)	utr 3 prime	probably benign
R8873:Recql	UTSW	6	142,308,013 (GRCm39)	missense
R9103:Recql	UTSW	6	142,322,515 (GRCm39)	missense	possibly damaging	0.82
R9454:Recql	UTSW	6	142,320,617 (GRCm39)	missense	possibly damaging	0.83
R9683:Recql	UTSW	6	142,305,646 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TGGGTGAACTGTTTCCTACAATGC -3'
(R):5'- AGCCAGTTTAACCAGAGGTG -3'

Sequencing Primer
(F):5'- TGCTTCACATCAGATAACTGCAGG -3'
(R):5'- CAGAGGTGGCTTCCTGC -3'

Posted On

2018-08-29