Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02094:Recql4'

279533

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Recql4

Ensembl Gene

ENSMUSG00000033762

Gene Name

RecQ protein-like 4

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

76703553-76710548 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76709517 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 131 (Q131L)

Ref Sequence

ENSEMBL: ENSMUSP00000154957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036423] [ENSMUST00000036852] [ENSMUST00000127208] [ENSMUST00000136840] [ENSMUST00000137649] [ENSMUST00000142610] [ENSMUST00000155225] [ENSMUST00000155735] [ENSMUST00000230724] [ENSMUST00000230544]

Predicted Effect

probably benign
Transcript: ENSMUST00000036423

SMART Domains

Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036852
AA Change: Q131L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: Q131L

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: ENSMUST00000127208

SMART Domains

Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136840

SMART Domains

Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137649

SMART Domains

Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142506

Predicted Effect

probably benign
Transcript: ENSMUST00000142610

SMART Domains

Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154531

Predicted Effect

probably benign
Transcript: ENSMUST00000155225

Predicted Effect

probably benign
Transcript: ENSMUST00000155735

SMART Domains

Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000230724
AA Change: Q131L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230544
AA Change: Q38L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229360

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 55,871,445	N658S	possibly damaging	Het
Adcy10	T	C	1: 165,570,620	Y1429H	probably damaging	Het
Aebp1	G	A	11: 5,868,357	M98I	probably benign	Het
Arl3	T	C	19: 46,558,341	D15G	probably benign	Het
Casp2	T	A	6: 42,280,359	I414N	probably damaging	Het
Ceacam1	T	C	7: 25,474,543	D229G	probably damaging	Het
Cog7	G	T	7: 121,963,247	A234E	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp3a59	A	T	5: 146,104,821	T392S	probably benign	Het
Ebf2	G	A	14: 67,235,240	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,558,240	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,199,845	V171A	probably benign	Het
Itgax	A	G	7: 128,131,473	Y121C	probably damaging	Het
Kcng4	C	A	8: 119,633,221	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,325,708	T283K	probably damaging	Het
Mgl2	T	A	11: 70,137,097	I377K	possibly damaging	Het
Myo15	T	C	11: 60,510,647		probably benign	Het
Nod1	A	T	6: 54,939,390		probably null	Het
Nr1h5	A	T	3: 102,952,196	C182*	probably null	Het
Nup210l	G	T	3: 90,180,213		probably null	Het
Ptbp2	G	A	3: 119,752,940		probably benign	Het
Ptpn13	T	G	5: 103,594,617	F2401V	probably damaging	Het
Rbbp6	T	C	7: 122,997,262	S676P	probably damaging	Het
Sbno2	G	A	10: 80,057,645	P1274L	probably benign	Het
Sec24c	T	C	14: 20,688,402	V341A	probably damaging	Het
Smc1b	A	T	15: 85,097,891		probably benign	Het
Sptbn1	T	C	11: 30,100,659	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,980,239	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,743,281	D97E	probably damaging	Het
Trpm2	G	A	10: 77,942,996	Q379*	probably null	Het
Ttn	A	G	2: 76,818,823		probably benign	Het
Vmn2r74	A	T	7: 85,961,461	F8I	probably benign	Het
Zfp36	C	T	7: 28,377,763	S240N	probably benign	Het
Zfp65	A	G	13: 67,708,185	I325T	possibly damaging	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
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
R8480:Recql4	UTSW	15	76704505	missense	probably benign	0.03
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

Posted On

2015-04-16