Mutagenetix > Incidental Mutation

Incidental Mutation 'R9093:Recql4'

691174

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 #

R9093 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76587753-76594748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76589685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 787 (P787S)

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: P787S

Predicted Effect

probably benign
Transcript: ENSMUST00000230724

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (76/78)

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 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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,069,513 (GRCm39)	V1294E	probably damaging	Het
Ada	C	T	2: 163,577,308 (GRCm39)	G60D	probably benign	Het
Aff3	G	T	1: 38,291,738 (GRCm39)	R390S	possibly damaging	Het
Aldh3b3	T	A	19: 4,013,959 (GRCm39)	N53K	possibly damaging	Het
Ankrd36	G	A	11: 5,589,132 (GRCm39)	M410I	probably benign	Het
Ap2b1	T	A	11: 83,215,395 (GRCm39)	I113N	probably damaging	Het
Art5	G	T	7: 101,747,396 (GRCm39)	H128N	probably benign	Het
Calhm2	A	C	19: 47,121,599 (GRCm39)	L190R	probably benign	Het
Catsperg1	G	C	7: 28,884,152 (GRCm39)	T987R	probably damaging	Het
Cdh18	A	T	15: 23,474,064 (GRCm39)	I645F	probably damaging	Het
Cenpe	C	T	3: 134,945,641 (GRCm39)	Q1052*	probably null	Het
Cfap221	G	T	1: 119,863,856 (GRCm39)	Q563K	probably damaging	Het
Cfap54	T	A	10: 92,651,770 (GRCm39)	E3093D	probably benign	Het
Chd4	A	G	6: 125,090,974 (GRCm39)	M1186V	probably benign	Het
Chst15	A	T	7: 131,870,646 (GRCm39)		probably null	Het
Clca3a2	T	C	3: 144,781,481 (GRCm39)	T688A	probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,495,173 (GRCm39)	N518K	probably damaging	Het
E230025N22Rik	G	T	18: 36,821,952 (GRCm39)	L247I	possibly damaging	Het
Eno4	A	T	19: 58,941,600 (GRCm39)	K174*	probably null	Het
Enpp3	G	A	10: 24,671,702 (GRCm39)	P431S	probably benign	Het
Fbh1	T	A	2: 11,764,801 (GRCm39)	Q444H	probably damaging	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fbxw14	A	G	9: 109,105,250 (GRCm39)	I305T	probably benign	Het
Fhip1b	T	A	7: 105,034,599 (GRCm39)	T408S	probably damaging	Het
Gas2	T	A	7: 51,602,969 (GRCm39)	C216S	probably damaging	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,220,458 (GRCm39)		probably null	Het
Glp2r	T	A	11: 67,621,459 (GRCm39)	R344*	probably null	Het
Gm17430	A	G	18: 9,726,640 (GRCm39)	Y11H	probably damaging	Het
Gyg1	T	A	3: 20,176,901 (GRCm39)	D363V	probably damaging	Het
H2bc18	G	A	3: 96,177,290 (GRCm39)	A75T	probably benign	Het
Hectd4	A	G	5: 121,411,677 (GRCm39)	N451S	probably benign	Het
Hif1a	T	C	12: 73,979,111 (GRCm39)	Y212H	probably benign	Het
Hoxd11	A	T	2: 74,514,482 (GRCm39)	*337C	probably null	Het
Kif24	A	G	4: 41,428,691 (GRCm39)	F90L	probably benign	Het
Klhl20	A	T	1: 160,923,231 (GRCm39)	C497*	probably null	Het
Loxl1	C	A	9: 58,219,224 (GRCm39)	A316S	probably benign	Het
Lrig3	C	T	10: 125,845,950 (GRCm39)	P793L	possibly damaging	Het
Macc1	A	G	12: 119,410,561 (GRCm39)	D443G	probably benign	Het
Maip1	A	T	1: 57,446,311 (GRCm39)	Y127F	possibly damaging	Het
Mrm2	A	T	5: 140,314,427 (GRCm39)	F136Y	probably benign	Het
Nasp	G	T	4: 116,468,017 (GRCm39)	L323I	probably benign	Het
Ndufb8	A	T	19: 44,538,823 (GRCm39)	L166Q	probably damaging	Het
Nid2	C	T	14: 19,858,009 (GRCm39)	T1274I		Het
Nup210	T	A	6: 91,066,872 (GRCm39)	T160S	probably benign	Het
Nutm2	A	G	13: 50,628,964 (GRCm39)	K676R	probably damaging	Het
Odad1	G	A	7: 45,596,965 (GRCm39)	V431I	possibly damaging	Het
Or10a3n	T	C	7: 108,493,609 (GRCm39)	R7G	probably benign	Het
Or2a20	A	G	6: 43,194,500 (GRCm39)	T218A	probably benign	Het
Or56b1b	A	T	7: 108,164,454 (GRCm39)	C183S	probably damaging	Het
Or5ak20	T	A	2: 85,183,852 (GRCm39)	R139S	probably benign	Het
Or7g33	A	G	9: 19,448,914 (GRCm39)	V104A	probably benign	Het
Or8b9	A	T	9: 37,766,294 (GRCm39)	Y60F	probably damaging	Het
Or9m1	A	T	2: 87,733,480 (GRCm39)	I180N	probably benign	Het
Pcdhga12	C	A	18: 37,899,931 (GRCm39)	N254K	possibly damaging	Het
Pm20d1	G	T	1: 131,743,753 (GRCm39)	V473F	probably benign	Het
Pou2af2	G	A	9: 51,201,516 (GRCm39)	P180L	possibly damaging	Het
Rab11fip1	A	G	8: 27,633,355 (GRCm39)	V596A	probably damaging	Het
Rapgef6	C	T	11: 54,487,912 (GRCm39)	Q13*	probably null	Het
Rasef	T	C	4: 73,698,583 (GRCm39)	D26G	probably benign	Het
Rbfox2	A	T	15: 77,190,658 (GRCm39)	V29E	probably benign	Het
Rnf19a	A	C	15: 36,253,450 (GRCm39)		probably benign	Het
Rnf214	A	G	9: 45,811,054 (GRCm39)	I203T	probably damaging	Het
Rnmt	A	C	18: 68,451,146 (GRCm39)	E396D	probably benign	Het
Scn4a	G	A	11: 106,210,638 (GRCm39)	S1793L	probably benign	Het
Sdcbp	G	T	4: 6,386,709 (GRCm39)		probably null	Het
Slfn3	A	G	11: 83,103,948 (GRCm39)	N273S	probably damaging	Het
Slk	A	G	19: 47,603,883 (GRCm39)	D209G		Het
Tent5b	A	G	4: 133,214,352 (GRCm39)	T408A	probably damaging	Het
Tmem135	T	A	7: 88,797,204 (GRCm39)	M351L	probably benign	Het
Tmem64	A	G	4: 15,266,391 (GRCm39)	H147R	probably benign	Het
Tnfsf4	T	C	1: 161,244,629 (GRCm39)	L106P	probably damaging	Het
Tonsl	A	T	15: 76,515,270 (GRCm39)	C1039S	probably damaging	Het
Ube4a	A	T	9: 44,864,462 (GRCm39)	F44I	possibly damaging	Het
Vmn2r40	A	G	7: 8,911,172 (GRCm39)	L707P		Het
Vmn2r87	G	A	10: 130,308,165 (GRCm39)	T691I	probably benign	Het
Wbp11	A	T	6: 136,803,044 (GRCm39)	S7T	possibly damaging	Het
Zfp386	C	A	12: 116,023,878 (GRCm39)	S532*	probably null	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
R7653:Recql4	UTSW	15	76,587,982 (GRCm39)	missense	probably benign	0.01
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
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'- TCAGGTGAGGACTTGGAAAC -3'
(R):5'- CCACGGTAGCATTTGGGATG -3'

Sequencing Primer
(F):5'- AAACAGGTCTCTGGCTGCAG -3'
(R):5'- TTCGAGAGCTACGTGCAAGC -3'

Posted On

2021-12-30