Mutagenetix > Incidental Mutation

Incidental Mutation 'R9103:Recql'

691808

Institutional Source

Beutler Lab

Gene Symbol

Recql

Ensembl Gene

ENSMUSG00000030243

Gene Name

RecQ protein-like

Synonyms

RecQ1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142296068-142332802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142322515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 129 (C129F)

Ref Sequence

ENSEMBL: ENSMUSP00000107434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032370] [ENSMUST00000100832] [ENSMUST00000111803] [ENSMUST00000128082] [ENSMUST00000129694] [ENSMUST00000203772]

AlphaFold

Q9Z129

Predicted Effect

probably benign
Transcript: ENSMUST00000032370
AA Change: C129F

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000032370
Gene: ENSMUSG00000030243
AA Change: C129F

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: ENSMUST00000100832
AA Change: C129F

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098394
Gene: ENSMUSG00000030243
AA Change: C129F

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

possibly damaging
Transcript: ENSMUST00000111803
AA Change: C129F

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107434
Gene: ENSMUSG00000030243
AA Change: C129F

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: ENSMUST00000128082

SMART Domains

Protein: ENSMUSP00000120951
Gene: ENSMUSG00000030243

Domain	Start	End	E-Value	Type
Blast:DEXDc	24	84	4e-16	BLAST
PDB:2WWY\|B	63	85	9e-9	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129694
AA Change: C129F

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122328
Gene: ENSMUSG00000030243
AA Change: C129F

Domain	Start	End	E-Value	Type
coiled coil region	6	51	N/A	INTRINSIC
Pfam:DEAD	93	166	6.6e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203772
AA Change: C129F

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145179
Gene: ENSMUSG00000030243
AA Change: C129F

Domain	Start	End	E-Value	Type
coiled coil region	6	51	N/A	INTRINSIC
Pfam:DEAD	93	166	8.5e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,454,558 (GRCm39)	C458*	probably null	Het
Adgra2	G	A	8: 27,603,436 (GRCm39)	G407D	probably damaging	Het
Aox4	G	A	1: 58,296,441 (GRCm39)	G1046E	probably damaging	Het
Arhgap27	A	G	11: 103,251,540 (GRCm39)	Y63H	probably damaging	Het
Ascl3	A	T	7: 109,327,127 (GRCm39)	M64K	probably benign	Het
Cacna2d3	G	A	14: 29,068,971 (GRCm39)	T252I	probably damaging	Het
Capn7	A	G	14: 31,091,732 (GRCm39)	T710A	probably benign	Het
Carmil1	A	G	13: 24,295,836 (GRCm39)	C393R	probably benign	Het
Chd5	A	C	4: 152,461,444 (GRCm39)	E1215A	possibly damaging	Het
Cntnap1	A	G	11: 101,072,094 (GRCm39)	N449S	probably benign	Het
Cpz	G	A	5: 35,675,054 (GRCm39)	S65L	probably benign	Het
Cyp2c68	T	A	19: 39,727,625 (GRCm39)	N118I	possibly damaging	Het
Ddx25	A	T	9: 35,458,085 (GRCm39)	F345I	probably benign	Het
Dennd2d	T	C	3: 106,397,684 (GRCm39)	Y161H		Het
Egfl8	C	T	17: 34,833,210 (GRCm39)	D179N	probably benign	Het
Eif2a	A	G	3: 58,452,461 (GRCm39)	N174S		Het
Farp1	C	T	14: 121,509,104 (GRCm39)	H643Y	possibly damaging	Het
Fat1	G	T	8: 45,404,850 (GRCm39)	V534L	probably benign	Het
Fbxo48	A	G	11: 16,903,556 (GRCm39)	T61A	probably benign	Het
Fnbp4	A	G	2: 90,608,187 (GRCm39)	T970A	probably benign	Het
Foxd1	T	A	13: 98,491,763 (GRCm39)	D212E	possibly damaging	Het
Fstl4	C	A	11: 52,664,696 (GRCm39)	H9N	probably benign	Het
Fyb1	A	G	15: 6,673,232 (GRCm39)	D622G	possibly damaging	Het
Gm4787	T	A	12: 81,425,489 (GRCm39)	H223L	probably benign	Het
Grin3a	A	G	4: 49,771,179 (GRCm39)	V531A	probably damaging	Het
Gzmb	T	C	14: 56,498,622 (GRCm39)	D42G	probably benign	Het
Herc2	T	A	7: 55,784,803 (GRCm39)	Y1416N	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hsd17b6	A	G	10: 127,833,876 (GRCm39)	W2R	probably damaging	Het
Hspa4l	T	C	3: 40,715,349 (GRCm39)		probably null	Het
Igtp	A	G	11: 58,097,726 (GRCm39)	E299G		Het
Klhl28	T	C	12: 64,990,300 (GRCm39)	D547G	possibly damaging	Het
Leng8	G	C	7: 4,146,897 (GRCm39)	R473P	probably damaging	Het
Lin37	T	A	7: 30,257,055 (GRCm39)	N53Y	possibly damaging	Het
Lrp1	G	A	10: 127,430,979 (GRCm39)	Q357*	probably null	Het
Lrrfip2	A	T	9: 111,034,840 (GRCm39)	K176N	probably damaging	Het
Ltbp4	A	G	7: 27,028,186 (GRCm39)	S390P	unknown	Het
Map3k2	G	A	18: 32,353,625 (GRCm39)	R465H	possibly damaging	Het
Mthfd1	T	A	12: 76,350,517 (GRCm39)	V665E	probably damaging	Het
Myh3	A	T	11: 66,989,451 (GRCm39)	I1524F	probably benign	Het
Myo1g	A	G	11: 6,466,153 (GRCm39)	S339P	possibly damaging	Het
Nf1	A	G	11: 79,450,332 (GRCm39)	K506R	probably damaging	Het
Nudt21	A	G	8: 94,746,321 (GRCm39)	I225T	probably benign	Het
Or4c31	A	G	2: 88,291,942 (GRCm39)	K105R	probably benign	Het
Or56b1b	A	T	7: 108,164,780 (GRCm39)	L74Q	probably benign	Het
Or5g9	T	A	2: 85,552,527 (GRCm39)	Y259*	probably null	Het
Or8b3	A	G	9: 38,314,518 (GRCm39)	Y116C	probably damaging	Het
Or8c18	A	T	9: 38,203,969 (GRCm39)	I243F	probably damaging	Het
Pax2	C	T	19: 44,806,968 (GRCm39)	T299I	probably benign	Het
Pde4dip	C	T	3: 97,749,044 (GRCm39)	S99N	probably damaging	Het
Pdlim5	T	A	3: 142,010,174 (GRCm39)	H147L	possibly damaging	Het
Pfkfb3	T	A	2: 11,487,381 (GRCm39)	Y343F	probably damaging	Het
Phf10	A	G	17: 15,174,382 (GRCm39)	I232T	probably damaging	Het
Plcb3	C	T	19: 6,936,288 (GRCm39)	G745D	probably benign	Het
Pramel11	G	A	4: 143,624,381 (GRCm39)	L39F	probably damaging	Het
Rrp1	C	T	10: 78,240,876 (GRCm39)	D288N	unknown	Het
Samd4	T	C	14: 47,254,066 (GRCm39)	Y177H	probably benign	Het
Sim1	T	A	10: 50,785,525 (GRCm39)	M198K	possibly damaging	Het
Six4	T	C	12: 73,155,964 (GRCm39)	I334M	probably damaging	Het
Slc27a6	T	C	18: 58,705,268 (GRCm39)	S217P	probably damaging	Het
Slc2a4	T	A	11: 69,836,218 (GRCm39)	K264N	probably benign	Het
Slc8b1	A	T	5: 120,670,939 (GRCm39)	I476F	probably benign	Het
Smcp	T	C	3: 92,491,838 (GRCm39)	D3G	unknown	Het
Tagap	A	T	17: 8,152,335 (GRCm39)	M507L	probably benign	Het
Thap11	A	G	8: 106,582,780 (GRCm39)	E263G	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Top3a	T	G	11: 60,654,253 (GRCm39)		probably null	Het
Ube2q2l	T	A	6: 136,378,011 (GRCm39)	D273V	probably benign	Het
Vmn1r31	A	G	6: 58,449,073 (GRCm39)	V264A	unknown	Het
Vti1a	A	C	19: 55,316,865 (GRCm39)	M81L	probably benign	Het
Wscd1	T	C	11: 71,674,245 (GRCm39)		probably null	Het
Zfp595	T	C	13: 67,464,676 (GRCm39)	E532G	probably damaging	Het
Zranb1	T	A	7: 132,584,167 (GRCm39)	V539D	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
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
R8817:Recql	UTSW	6	142,304,612 (GRCm39)	utr 3 prime	probably benign
R8873:Recql	UTSW	6	142,308,013 (GRCm39)	missense
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'- TGCCTGTAAGCACTGTGAAC -3'
(R):5'- TGGAAAGCGACCATTCACGTC -3'

Sequencing Primer
(F):5'- GTAAGCACTGTGAACTCTCTATGC -3'
(R):5'- GCGACCATTCACGTCCCATTTATAG -3'

Posted On

2021-12-30