Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Recql4'

657495

Institutional Source

Beutler Lab

Gene Symbol

Recql4

Ensembl Gene

ENSMUSG00000033762

Gene Name

RecQ protein-like 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76703553-76710548 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76704505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1035 (H1035Q)

Ref Sequence

ENSEMBL: ENSMUSP00000155694 (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: H1078Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: H1078Q

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: H1035Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000230724

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999	A660V	probably benign	Het

Other mutations in Recql4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Recql4	APN	15	76707336	missense	possibly damaging	0.52
IGL01287:Recql4	APN	15	76709912	splice site	probably benign
IGL01470:Recql4	APN	15	76708944	missense	probably benign	0.40
IGL01809:Recql4	APN	15	76708870	nonsense	probably null
IGL02094:Recql4	APN	15	76709517	missense	probably benign	0.01
IGL02303:Recql4	APN	15	76708571	missense	possibly damaging	0.64
IGL02702:Recql4	APN	15	76707285	missense	probably damaging	1.00
IGL03086:Recql4	APN	15	76706268	missense	probably benign	0.30
IGL03162:Recql4	APN	15	76706096	splice site	probably null
ANU74:Recql4	UTSW	15	76705757	missense	possibly damaging	0.47
F5770:Recql4	UTSW	15	76706169	missense	possibly damaging	0.79
R0688:Recql4	UTSW	15	76709809	splice site	probably null
R1171:Recql4	UTSW	15	76704039	missense	possibly damaging	0.94
R1348:Recql4	UTSW	15	76709211	missense	probably benign	0.01
R1487:Recql4	UTSW	15	76708983	missense	probably benign	0.11
R1547:Recql4	UTSW	15	76706311	missense	probably damaging	0.99
R1917:Recql4	UTSW	15	76703837	nonsense	probably null
R3813:Recql4	UTSW	15	76704494	missense	possibly damaging	0.67
R4066:Recql4	UTSW	15	76705827	missense	probably damaging	1.00
R4363:Recql4	UTSW	15	76706044	missense	probably benign	0.07
R4387:Recql4	UTSW	15	76705958	missense	probably benign	0.00
R4388:Recql4	UTSW	15	76705958	missense	probably benign	0.00
R4700:Recql4	UTSW	15	76708585	missense	probably damaging	1.00
R4701:Recql4	UTSW	15	76708585	missense	probably damaging	1.00
R4923:Recql4	UTSW	15	76710181	missense	probably damaging	1.00
R5075:Recql4	UTSW	15	76709544	missense	probably damaging	1.00
R5103:Recql4	UTSW	15	76706756	missense	probably damaging	1.00
R5226:Recql4	UTSW	15	76710129	missense	probably benign
R5500:Recql4	UTSW	15	76705578	intron	probably benign
R5547:Recql4	UTSW	15	76705794	nonsense	probably null
R5824:Recql4	UTSW	15	76708585	missense	probably damaging	1.00
R5976:Recql4	UTSW	15	76709424	missense	probably benign	0.01
R6086:Recql4	UTSW	15	76704587	missense	probably damaging	0.96
R6756:Recql4	UTSW	15	76704859	missense	probably benign	0.00
R7075:Recql4	UTSW	15	76706424	missense	possibly damaging	0.95
R7086:Recql4	UTSW	15	76705553	missense	unknown
R7449:Recql4	UTSW	15	76705565	missense	unknown
R7653:Recql4	UTSW	15	76703782	missense	probably benign	0.01
R8314:Recql4	UTSW	15	76710180	missense	probably damaging	1.00
R8737:Recql4	UTSW	15	76708854	missense	probably benign	0.00
R8789:Recql4	UTSW	15	76704346	missense	probably benign
R9093:Recql4	UTSW	15	76705485	missense	unknown
V7580:Recql4	UTSW	15	76706169	missense	possibly damaging	0.79
V7581:Recql4	UTSW	15	76706169	missense	possibly damaging	0.79
V7583:Recql4	UTSW	15	76706169	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CAGGGTCTTCACCTGATTGC -3'
(R):5'- GGTATGTATGCCCACCACTAC -3'

Sequencing Primer
(F):5'- GATTGCTGTGCTCCTCATTAGACTG -3'
(R):5'- GCTAGCCAGCTGTTCCC -3'

Posted On

2021-01-18