Mutagenetix > Incidental Mutation

Incidental Mutation 'R7653:Recql4'

580511

Institutional Source

Beutler Lab

Gene Symbol

Recql4

Ensembl Gene

ENSMUSG00000033762

Gene Name

RecQ protein-like 4

Synonyms

MMRRC Submission

045730-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76587753-76594748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76587982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1204 (M1204L)

Ref Sequence

ENSEMBL: ENSMUSP00000044363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000023203] [ENSMUST00000036852] [ENSMUST00000229140] [ENSMUST00000229679] [ENSMUST00000229734] [ENSMUST00000230544] [ENSMUST00000230724]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019224

SMART Domains

Protein: ENSMUSP00000019224
Gene: ENSMUSG00000019080

Domain	Start	End	E-Value	Type
Pfam:MFS_1	8	373	3e-16	PFAM
transmembrane domain	388	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000023203

SMART Domains

Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	83	484	7.8e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036852
AA Change: M1204L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: M1204L

Domain	Start	End	E-Value	Type
Pfam:Drc1-Sld2	4	132	2.8e-14	PFAM
low complexity region	169	187	N/A	INTRINSIC
low complexity region	368	379	N/A	INTRINSIC
ZnF_C2HC	394	410	5.67e-5	SMART
DEXDc	494	701	5.86e-28	SMART
HELICc	736	831	1.48e-24	SMART
Blast:DEXDc	902	1117	3e-46	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000229140

Predicted Effect

probably benign
Transcript: ENSMUST00000229679

Predicted Effect

probably benign
Transcript: ENSMUST00000229734

Predicted Effect

probably benign
Transcript: ENSMUST00000230544
AA Change: M1161L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000230724

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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 DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous loss of exons 5-8 causes embryonic death. Deletion of exon 13 causes neo- and postnatal lethality, stunted growth, skin, hair and bone defects, tissue hypoplasia and tooth dysgenesis. Mice lacking exons 9-13 show palate and limb defects, aneuploidy, poikiloderma and cancer predisposition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	T	6: 92,805,050 (GRCm39)	Q70L	unknown	Het
Adamts12	T	A	15: 11,257,115 (GRCm39)	N489K	probably benign	Het
Alms1	A	G	6: 85,597,577 (GRCm39)	D801G	possibly damaging	Het
Apex1	T	G	14: 51,163,995 (GRCm39)	N173K	probably damaging	Het
Arhgap32	A	T	9: 32,168,441 (GRCm39)	N808I	probably benign	Het
Arhgef28	T	C	13: 98,105,821 (GRCm39)	Y706C	probably benign	Het
Atg2b	A	T	12: 105,602,731 (GRCm39)	F1604Y	possibly damaging	Het
Atm	A	T	9: 53,401,602 (GRCm39)	Y1422*	probably null	Het
Bace2	T	A	16: 97,237,852 (GRCm39)	V38E		Het
Birc6	C	A	17: 74,954,729 (GRCm39)	L3442I	possibly damaging	Het
C6	T	A	15: 4,844,244 (GRCm39)	S889T		Het
Calcrl	A	T	2: 84,175,529 (GRCm39)	L275*	probably null	Het
Casp6	T	C	3: 129,705,872 (GRCm39)	Y180H	probably benign	Het
Cd5	T	C	19: 10,703,910 (GRCm39)	M51V	probably benign	Het
Cdhr1	G	T	14: 36,804,158 (GRCm39)	P500Q	probably benign	Het
Celsr3	G	A	9: 108,712,269 (GRCm39)	W1732*	probably null	Het
Ces2g	T	C	8: 105,689,285 (GRCm39)	V87A	probably damaging	Het
Chil6	T	C	3: 106,301,641 (GRCm39)	N153S	possibly damaging	Het
Chrna5	A	T	9: 54,909,718 (GRCm39)	D113V	probably benign	Het
Cimip2b	T	G	4: 43,427,273 (GRCm39)		probably null	Het
Cox20	A	G	1: 178,150,164 (GRCm39)	T113A	probably benign	Het
Cryl1	T	C	14: 57,541,148 (GRCm39)	I179V	probably benign	Het
Dennd3	A	G	15: 73,434,275 (GRCm39)	T982A	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Dync2h1	A	G	9: 7,117,570 (GRCm39)	S2240P	probably benign	Het
Eif1ad14	T	A	12: 87,886,248 (GRCm39)	D127V	unknown	Het
Fbxl5	C	T	5: 43,916,116 (GRCm39)	S432N	probably benign	Het
Fez1	T	A	9: 36,772,146 (GRCm39)	S150R	probably benign	Het
Gabrb2	T	G	11: 42,378,039 (GRCm39)	M85R	probably damaging	Het
Lhx4	A	G	1: 155,580,617 (GRCm39)	V203A	probably damaging	Het
Med23	G	A	10: 24,780,282 (GRCm39)	D977N	probably damaging	Het
Mplkip	T	C	13: 17,870,367 (GRCm39)	F100L	probably damaging	Het
Ncoa7	C	T	10: 30,570,239 (GRCm39)	G240E	probably damaging	Het
Nedd4	A	G	9: 72,650,910 (GRCm39)	E827G	probably damaging	Het
Nfatc2	A	G	2: 168,413,065 (GRCm39)	F207L	probably benign	Het
Nr2f1	A	T	13: 78,343,716 (GRCm39)	S183T	probably benign	Het
Ocel1	A	G	8: 71,824,560 (GRCm39)	E81G	probably benign	Het
Or10aa3	T	C	1: 173,878,488 (GRCm39)	V183A	probably benign	Het
Or10g3b	C	A	14: 52,586,889 (GRCm39)	G205*	probably null	Het
Or4n4b	C	T	14: 50,536,604 (GRCm39)	G54E	possibly damaging	Het
Pcdh8	G	A	14: 80,005,086 (GRCm39)	P980S	probably benign	Het
Pex26	A	T	6: 121,170,510 (GRCm39)	Q285L	possibly damaging	Het
Pgap6	T	A	17: 26,339,423 (GRCm39)	M579K	probably damaging	Het
Plce1	A	T	19: 38,737,763 (GRCm39)	N1603I	probably benign	Het
Poli	A	T	18: 70,642,698 (GRCm39)	C501S	probably benign	Het
Ppp4r4	C	T	12: 103,550,404 (GRCm39)	T276I	probably damaging	Het
Rbpj	T	A	5: 53,747,693 (GRCm39)	M1K	probably null	Het
Ribc2	T	C	15: 85,025,876 (GRCm39)	I284T	probably benign	Het
Rreb1	C	A	13: 38,114,362 (GRCm39)	Q574K	probably benign	Het
Scn9a	A	T	2: 66,357,424 (GRCm39)	L959Q	probably damaging	Het
Shank1	C	A	7: 43,969,093 (GRCm39)	H329Q	unknown	Het
Soat2	A	T	15: 102,071,013 (GRCm39)	D469V	probably damaging	Het
Spag7	T	A	11: 70,555,691 (GRCm39)	H82L	probably damaging	Het
Sptb	T	C	12: 76,675,271 (GRCm39)	I248V	probably benign	Het
Tacr3	A	G	3: 134,566,843 (GRCm39)	I239V	probably benign	Het
Tbc1d1	T	C	5: 64,414,133 (GRCm39)	F165L	probably benign	Het
Tchhl1	A	G	3: 93,378,451 (GRCm39)	E385G	probably benign	Het
Tecta	C	T	9: 42,248,532 (GRCm39)	D1957N	probably damaging	Het
Tenm2	T	C	11: 35,938,174 (GRCm39)	I1501V	probably benign	Het
Tet2	G	T	3: 133,192,146 (GRCm39)	Q763K	probably benign	Het
Timd6	A	C	11: 46,475,200 (GRCm39)	S132R	probably benign	Het
Tox3	G	A	8: 90,975,617 (GRCm39)	T338I	probably damaging	Het
Usp30	G	A	5: 114,259,730 (GRCm39)	D479N	probably damaging	Het
Vmn1r27	T	C	6: 58,192,785 (GRCm39)	D73G	possibly damaging	Het
Vmn1r27	A	T	6: 58,192,879 (GRCm39)	S42T	probably benign	Het
Vmn2r120	A	T	17: 57,816,258 (GRCm39)	V699D	possibly damaging	Het
Vwa2	A	T	19: 56,897,767 (GRCm39)	T691S	probably benign	Het
Wdr31	T	A	4: 62,381,666 (GRCm39)	Q55L	probably benign	Het
Xdh	A	G	17: 74,204,040 (GRCm39)	F1107L	probably benign	Het
Zfp184	A	G	13: 22,143,887 (GRCm39)	H531R	probably damaging	Het
Zfp366	T	C	13: 99,365,709 (GRCm39)	L290P	probably damaging	Het

Other mutations in Recql4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Recql4	APN	15	76,591,536 (GRCm39)	missense	possibly damaging	0.52
IGL01287:Recql4	APN	15	76,594,112 (GRCm39)	splice site	probably benign
IGL01470:Recql4	APN	15	76,593,144 (GRCm39)	missense	probably benign	0.40
IGL01809:Recql4	APN	15	76,593,070 (GRCm39)	nonsense	probably null
IGL02094:Recql4	APN	15	76,593,717 (GRCm39)	missense	probably benign	0.01
IGL02303:Recql4	APN	15	76,592,771 (GRCm39)	missense	possibly damaging	0.64
IGL02702:Recql4	APN	15	76,591,485 (GRCm39)	missense	probably damaging	1.00
IGL03086:Recql4	APN	15	76,590,468 (GRCm39)	missense	probably benign	0.30
IGL03162:Recql4	APN	15	76,590,296 (GRCm39)	splice site	probably null
ANU74:Recql4	UTSW	15	76,589,957 (GRCm39)	missense	possibly damaging	0.47
F5770:Recql4	UTSW	15	76,590,369 (GRCm39)	missense	possibly damaging	0.79
R0688:Recql4	UTSW	15	76,594,009 (GRCm39)	splice site	probably null
R1171:Recql4	UTSW	15	76,588,239 (GRCm39)	missense	possibly damaging	0.94
R1348:Recql4	UTSW	15	76,593,411 (GRCm39)	missense	probably benign	0.01
R1487:Recql4	UTSW	15	76,593,183 (GRCm39)	missense	probably benign	0.11
R1547:Recql4	UTSW	15	76,590,511 (GRCm39)	missense	probably damaging	0.99
R1917:Recql4	UTSW	15	76,588,037 (GRCm39)	nonsense	probably null
R3813:Recql4	UTSW	15	76,588,694 (GRCm39)	missense	possibly damaging	0.67
R4066:Recql4	UTSW	15	76,590,027 (GRCm39)	missense	probably damaging	1.00
R4363:Recql4	UTSW	15	76,590,244 (GRCm39)	missense	probably benign	0.07
R4387:Recql4	UTSW	15	76,590,158 (GRCm39)	missense	probably benign	0.00
R4388:Recql4	UTSW	15	76,590,158 (GRCm39)	missense	probably benign	0.00
R4700:Recql4	UTSW	15	76,592,785 (GRCm39)	missense	probably damaging	1.00
R4701:Recql4	UTSW	15	76,592,785 (GRCm39)	missense	probably damaging	1.00
R4923:Recql4	UTSW	15	76,594,381 (GRCm39)	missense	probably damaging	1.00
R5075:Recql4	UTSW	15	76,593,744 (GRCm39)	missense	probably damaging	1.00
R5103:Recql4	UTSW	15	76,590,956 (GRCm39)	missense	probably damaging	1.00
R5226:Recql4	UTSW	15	76,594,329 (GRCm39)	missense	probably benign
R5500:Recql4	UTSW	15	76,589,778 (GRCm39)	intron	probably benign
R5547:Recql4	UTSW	15	76,589,994 (GRCm39)	nonsense	probably null
R5824:Recql4	UTSW	15	76,592,785 (GRCm39)	missense	probably damaging	1.00
R5976:Recql4	UTSW	15	76,593,624 (GRCm39)	missense	probably benign	0.01
R6086:Recql4	UTSW	15	76,588,787 (GRCm39)	missense	probably damaging	0.96
R6756:Recql4	UTSW	15	76,589,059 (GRCm39)	missense	probably benign	0.00
R7075:Recql4	UTSW	15	76,590,624 (GRCm39)	missense	possibly damaging	0.95
R7086:Recql4	UTSW	15	76,589,753 (GRCm39)	missense	unknown
R7449:Recql4	UTSW	15	76,589,765 (GRCm39)	missense	unknown
R8314:Recql4	UTSW	15	76,594,380 (GRCm39)	missense	probably damaging	1.00
R8480:Recql4	UTSW	15	76,588,705 (GRCm39)	missense	probably benign	0.03
R8737:Recql4	UTSW	15	76,593,054 (GRCm39)	missense	probably benign	0.00
R8789:Recql4	UTSW	15	76,588,546 (GRCm39)	missense	probably benign
R9093:Recql4	UTSW	15	76,589,685 (GRCm39)	missense	unknown
V7580:Recql4	UTSW	15	76,590,369 (GRCm39)	missense	possibly damaging	0.79
V7581:Recql4	UTSW	15	76,590,369 (GRCm39)	missense	possibly damaging	0.79
V7583:Recql4	UTSW	15	76,590,369 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGCAGCCAGAAGGTTTTGCC -3'
(R):5'- TCCCTGAGGCCAGAAGAAAG -3'

Sequencing Primer
(F):5'- CTGACAGTCAGTGATGGCCAC -3'
(R):5'- GCATCTTCCATGGCATTGG -3'

Posted On

2019-10-07