Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Recql4'

577597

Institutional Source

Beutler Lab

Gene Symbol

Recql4

Ensembl Gene

ENSMUSG00000033762

Gene Name

RecQ protein-like 4

Synonyms

MMRRC Submission

045524-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76703553-76710548 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76705565 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 760 (D760G)

Ref Sequence

ENSEMBL: ENSMUSP00000155694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000036852] [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: ENSMUST00000036852

SMART Domains

Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

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

unknown
Transcript: ENSMUST00000230544
AA Change: D760G

Predicted Effect

probably benign
Transcript: ENSMUST00000230724

Coding Region Coverage

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

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,435,908 (GRCm38)	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073 (GRCm38)	V3116D	probably damaging	Het
Adss1	A	T	12: 112,634,151 (GRCm38)	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499 (GRCm38)	P30L	probably damaging	Het
Arb2a	A	G	13: 77,759,442 (GRCm38)	I41V	probably damaging	Het
Atp5pf	C	T	16: 84,831,363 (GRCm38)	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849 (GRCm38)	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341 (GRCm38)	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349 (GRCm38)	D1796N		Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304 (GRCm38)	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519 (GRCm38)	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380 (GRCm38)	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020 (GRCm38)	N339K	probably damaging	Het
Eva1c	T	C	16: 90,876,193 (GRCm38)		probably null	Het
Fam184a	T	C	10: 53,698,634 (GRCm38)	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748 (GRCm38)	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163 (GRCm38)	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494 (GRCm38)	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581 (GRCm38)	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904 (GRCm38)	V136D	probably damaging	Het
Grm4	C	T	17: 27,435,371 (GRCm38)	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711 (GRCm38)	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,037,155 (GRCm38)	I279T	probably damaging	Het
Idi2l	T	A	13: 8,943,304 (GRCm38)	H51L	probably damaging	Het
Itpr1	T	C	6: 108,389,384 (GRCm38)	S923P	probably damaging	Het
Krt39	C	A	11: 99,518,061 (GRCm38)	C303F	probably benign	Het
Lrrn1	T	C	6: 107,568,521 (GRCm38)	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488 (GRCm38)	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918 (GRCm38)	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140 (GRCm38)	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285 (GRCm38)	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051 (GRCm38)	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526 (GRCm38)	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966 (GRCm38)	A322T	probably damaging	Het
Or14c43	A	G	7: 86,465,855 (GRCm38)	H148R	probably benign	Het
Or52a5b	G	T	7: 103,767,819 (GRCm38)	Q193K	probably benign	Het
Or7g34	T	A	9: 19,566,866 (GRCm38)	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663 (GRCm38)	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597 (GRCm38)	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499 (GRCm38)	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222 (GRCm38)	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552 (GRCm38)	F1344L	probably benign	Het
Polr1has	A	G	17: 36,964,383 (GRCm38)	D16G	probably damaging	Het
Psmd3	T	A	11: 98,695,551 (GRCm38)	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586 (GRCm38)	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032 (GRCm38)	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943 (GRCm38)	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663 (GRCm38)	H113Q	probably damaging	Het
Rhobtb3	C	T	13: 75,910,741 (GRCm38)	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992 (GRCm38)	G191E	unknown	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578 (GRCm38)	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036 (GRCm38)	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652 (GRCm38)	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946 (GRCm38)	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993 (GRCm38)	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708 (GRCm38)		probably benign	Het
Tenm4	A	T	7: 96,874,213 (GRCm38)	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838 (GRCm38)	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361 (GRCm38)	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975 (GRCm38)	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209 (GRCm38)	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233 (GRCm38)	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788 (GRCm38)	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543 (GRCm38)	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895 (GRCm38)	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145 (GRCm38)	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136 (GRCm38)		probably null	Het
Wdr25	A	C	12: 109,026,441 (GRCm38)	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681 (GRCm38)	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005 (GRCm38)	I343L	possibly damaging	Het
Zscan4b	T	C	7: 10,904,058 (GRCm38)	Q53R	possibly damaging	Het

Other mutations in Recql4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Recql4	APN	15	76,707,336 (GRCm38)	missense	possibly damaging	0.52
IGL01287:Recql4	APN	15	76,709,912 (GRCm38)	splice site	probably benign
IGL01470:Recql4	APN	15	76,708,944 (GRCm38)	missense	probably benign	0.40
IGL01809:Recql4	APN	15	76,708,870 (GRCm38)	nonsense	probably null
IGL02094:Recql4	APN	15	76,709,517 (GRCm38)	missense	probably benign	0.01
IGL02303:Recql4	APN	15	76,708,571 (GRCm38)	missense	possibly damaging	0.64
IGL02702:Recql4	APN	15	76,707,285 (GRCm38)	missense	probably damaging	1.00
IGL03086:Recql4	APN	15	76,706,268 (GRCm38)	missense	probably benign	0.30
IGL03162:Recql4	APN	15	76,706,096 (GRCm38)	splice site	probably null
ANU74:Recql4	UTSW	15	76,705,757 (GRCm38)	missense	possibly damaging	0.47
F5770:Recql4	UTSW	15	76,706,169 (GRCm38)	missense	possibly damaging	0.79
R0688:Recql4	UTSW	15	76,709,809 (GRCm38)	splice site	probably null
R1171:Recql4	UTSW	15	76,704,039 (GRCm38)	missense	possibly damaging	0.94
R1348:Recql4	UTSW	15	76,709,211 (GRCm38)	missense	probably benign	0.01
R1487:Recql4	UTSW	15	76,708,983 (GRCm38)	missense	probably benign	0.11
R1547:Recql4	UTSW	15	76,706,311 (GRCm38)	missense	probably damaging	0.99
R1917:Recql4	UTSW	15	76,703,837 (GRCm38)	nonsense	probably null
R3813:Recql4	UTSW	15	76,704,494 (GRCm38)	missense	possibly damaging	0.67
R4066:Recql4	UTSW	15	76,705,827 (GRCm38)	missense	probably damaging	1.00
R4363:Recql4	UTSW	15	76,706,044 (GRCm38)	missense	probably benign	0.07
R4387:Recql4	UTSW	15	76,705,958 (GRCm38)	missense	probably benign	0.00
R4388:Recql4	UTSW	15	76,705,958 (GRCm38)	missense	probably benign	0.00
R4700:Recql4	UTSW	15	76,708,585 (GRCm38)	missense	probably damaging	1.00
R4701:Recql4	UTSW	15	76,708,585 (GRCm38)	missense	probably damaging	1.00
R4923:Recql4	UTSW	15	76,710,181 (GRCm38)	missense	probably damaging	1.00
R5075:Recql4	UTSW	15	76,709,544 (GRCm38)	missense	probably damaging	1.00
R5103:Recql4	UTSW	15	76,706,756 (GRCm38)	missense	probably damaging	1.00
R5226:Recql4	UTSW	15	76,710,129 (GRCm38)	missense	probably benign
R5500:Recql4	UTSW	15	76,705,578 (GRCm38)	intron	probably benign
R5547:Recql4	UTSW	15	76,705,794 (GRCm38)	nonsense	probably null
R5824:Recql4	UTSW	15	76,708,585 (GRCm38)	missense	probably damaging	1.00
R5976:Recql4	UTSW	15	76,709,424 (GRCm38)	missense	probably benign	0.01
R6086:Recql4	UTSW	15	76,704,587 (GRCm38)	missense	probably damaging	0.96
R6756:Recql4	UTSW	15	76,704,859 (GRCm38)	missense	probably benign	0.00
R7075:Recql4	UTSW	15	76,706,424 (GRCm38)	missense	possibly damaging	0.95
R7086:Recql4	UTSW	15	76,705,553 (GRCm38)	missense	unknown
R7653:Recql4	UTSW	15	76,703,782 (GRCm38)	missense	probably benign	0.01
R8314:Recql4	UTSW	15	76,710,180 (GRCm38)	missense	probably damaging	1.00
R8480:Recql4	UTSW	15	76,704,505 (GRCm38)	missense	probably benign	0.03
R8737:Recql4	UTSW	15	76,708,854 (GRCm38)	missense	probably benign	0.00
R8789:Recql4	UTSW	15	76,704,346 (GRCm38)	missense	probably benign
R9093:Recql4	UTSW	15	76,705,485 (GRCm38)	missense	unknown
V7580:Recql4	UTSW	15	76,706,169 (GRCm38)	missense	possibly damaging	0.79
V7581:Recql4	UTSW	15	76,706,169 (GRCm38)	missense	possibly damaging	0.79
V7583:Recql4	UTSW	15	76,706,169 (GRCm38)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AGGAAGTCAGTGCTGTCAGC -3'
(R):5'- GTACAACAGGCCTTCATGCG -3'

Sequencing Primer
(F):5'- CTGTCAGCGTGGGCATGTC -3'
(R):5'- AGTGGCCACGGTAGCATTTG -3'

Posted On

2019-10-07