Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Recql'

700939

Institutional Source

Beutler Lab

Gene Symbol

Recql

Ensembl Gene

ENSMUSG00000030243

Gene Name

RecQ protein-like

Synonyms

RecQ1

MMRRC Submission

068727-MU

Accession Numbers

Essential gene?

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

Stock #

R8817 (G1)

Quality Score

108.008

Status

Validated

Chromosome

Chromosomal Location

142296068-142332802 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to A at 142304612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9Z129

Predicted Effect

probably benign
Transcript: ENSMUST00000032370

SMART Domains

Protein: ENSMUSP00000032370
Gene: ENSMUSG00000030243

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

SMART Domains

Protein: ENSMUSP00000098394
Gene: ENSMUSG00000030243

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

SMART Domains

Protein: ENSMUSP00000107434
Gene: ENSMUSG00000030243

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

probably benign
Transcript: ENSMUST00000141504

SMART Domains

Protein: ENSMUSP00000119452
Gene: ENSMUSG00000030243

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,400,361 (GRCm39)	V139A	probably benign	Het
Aass	A	T	6: 23,097,195 (GRCm39)	Y41*	probably null	Het
AI429214	G	A	8: 37,461,268 (GRCm39)	V139I	probably benign	Het
Cacna1a	G	A	8: 85,365,426 (GRCm39)	A2190T	probably benign	Het
Cstpp1	A	G	2: 91,107,343 (GRCm39)	Y320H	probably benign	Het
Cutc	T	C	19: 43,744,113 (GRCm39)	V38A	probably benign	Het
Cxcl10	G	T	5: 92,495,230 (GRCm39)	P98H	probably damaging	Het
Dop1a	T	C	9: 86,396,003 (GRCm39)	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,454,631 (GRCm39)	L117P	probably damaging	Het
Emc3	A	G	6: 113,492,868 (GRCm39)	F261S	probably damaging	Het
Ephx2	T	C	14: 66,344,725 (GRCm39)	T200A	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
Ethe1	T	C	7: 24,305,727 (GRCm39)	I158T	probably damaging	Het
Fancm	C	T	12: 65,167,331 (GRCm39)	R1547C	probably damaging	Het
Fer1l4	T	A	2: 155,890,143 (GRCm39)	T261S	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gabrp	A	T	11: 33,504,464 (GRCm39)	S284T	possibly damaging	Het
Gga2	G	A	7: 121,590,845 (GRCm39)	R488*	probably null	Het
Gm9758	A	G	5: 14,962,230 (GRCm39)	L126S	probably damaging	Het
Gse1	T	C	8: 121,294,542 (GRCm39)	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,954,068 (GRCm39)	S2P	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Huwe1	A	G	X: 150,669,993 (GRCm39)	K1482R	probably benign	Het
Lama2	A	T	10: 27,063,869 (GRCm39)	W1307R	probably damaging	Het
Map3k6	A	G	4: 132,974,071 (GRCm39)	K517E	probably benign	Het
Mbl1	T	A	14: 40,875,555 (GRCm39)	L3Q	unknown	Het
Mepe	G	T	5: 104,485,151 (GRCm39)	R97L	probably benign	Het
Minpp1	T	A	19: 32,463,747 (GRCm39)	M136K	possibly damaging	Het
Mrgprb1	T	A	7: 48,097,070 (GRCm39)	I281F	probably benign	Het
Naip5	T	C	13: 100,349,207 (GRCm39)	I1374V	probably benign	Het
Or14j8	A	G	17: 38,263,273 (GRCm39)	I214T	probably damaging	Het
Or4c12	A	G	2: 89,773,790 (GRCm39)	L223S	probably damaging	Het
Or52e19b	A	T	7: 103,032,825 (GRCm39)	I128N	probably damaging	Het
Or8g34	C	T	9: 39,373,387 (GRCm39)	S217F	probably damaging	Het
Or8g37	G	T	9: 39,730,939 (GRCm39)	M1I	probably null	Het
Pamr1	T	G	2: 102,464,766 (GRCm39)	V305G	probably benign	Het
Pcbp3	T	C	10: 76,625,670 (GRCm39)	T125A	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 71,941,894 (GRCm39)	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,702,774 (GRCm39)	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,175,429 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,042,971 (GRCm39)	K480E	probably damaging	Het
Psd3	A	G	8: 68,413,135 (GRCm39)	I465T	possibly damaging	Het
Pskh1	C	T	8: 106,656,352 (GRCm39)	R343W	probably damaging	Het
Ptprz1	A	T	6: 23,007,371 (GRCm39)	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,808,416 (GRCm39)	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,023 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,196,332 (GRCm39)	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,268,085 (GRCm39)	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,378,056 (GRCm39)	V468A	probably benign	Het
Ryr2	T	A	13: 11,750,509 (GRCm39)	I1921F	possibly damaging	Het
Sirpa	G	A	2: 129,435,558 (GRCm39)	G9D	unknown	Het
Slc28a2b	A	T	2: 122,348,988 (GRCm39)	T305S	possibly damaging	Het
Slc40a1	A	C	1: 45,948,699 (GRCm39)	V527G	probably damaging	Het
Smarca4	T	A	9: 21,547,497 (GRCm39)	M260K	probably benign	Het
Smarca5	A	T	8: 81,460,379 (GRCm39)	M119K	probably benign	Het
Smg1	A	G	7: 117,758,887 (GRCm39)	V2206A	unknown	Het
Sp4	A	T	12: 118,225,624 (GRCm39)	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,182,376 (GRCm39)	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srcap	T	C	7: 127,152,395 (GRCm39)	S2220P	probably benign	Het
Stra6	G	T	9: 58,059,265 (GRCm39)	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,523,335 (GRCm39)	F1626I	probably benign	Het
Tjp1	T	C	7: 64,952,810 (GRCm39)	N1508S	probably benign	Het
Trrap	T	A	5: 144,782,348 (GRCm39)	L3298Q	probably damaging	Het
Tsn	A	G	1: 118,232,470 (GRCm39)	L135P	probably damaging	Het
Ttl	A	T	2: 128,910,778 (GRCm39)	H54L	probably damaging	Het
Ttn	T	A	2: 76,660,251 (GRCm39)	T12110S	unknown	Het
Uba6	T	C	5: 86,296,772 (GRCm39)	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425 (GRCm39)	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 187,995,231 (GRCm39)	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,542,559 (GRCm39)	V158F	probably benign	Het
Wif1	A	G	10: 120,932,621 (GRCm39)	H333R	possibly damaging	Het
Zfp282	T	A	6: 47,881,760 (GRCm39)	N482K	probably benign	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
R6786:Recql	UTSW	6	142,310,278 (GRCm39)	missense	probably benign	0.43
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
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'- GTCCAGCAGTTAACATCCGC -3'
(R):5'- CCATCTTCTCCTAGAGCAAACTG -3'

Sequencing Primer
(F):5'- TCCGCTTAAGACCATCTGGAG -3'
(R):5'- GAGCAAACTGAGCAGCTTTTC -3'

Posted On

2022-03-23