Mutagenetix > Incidental Mutation

Incidental Mutation 'R2012:Recql5'

219998

Institutional Source

Beutler Lab

Gene Symbol

Recql5

Ensembl Gene

ENSMUSG00000020752

Gene Name

RecQ protein-like 5

Synonyms

Recql5b, Recq5b

MMRRC Submission

040021-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R2012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115783421-115824303 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115787923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 465 (N465K)

Ref Sequence

ENSEMBL: ENSMUSP00000021097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000093911] [ENSMUST00000131566] [ENSMUST00000131578] [ENSMUST00000140174] [ENSMUST00000167507] [ENSMUST00000152171] [ENSMUST00000142089] [ENSMUST00000222123]

AlphaFold

Q8VID5

Predicted Effect

probably benign
Transcript: ENSMUST00000021097
AA Change: N465K

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: N465K

Domain	Start	End	E-Value	Type
DEXDc	25	230	1.13e-29	SMART
HELICc	274	355	8.68e-22	SMART
Pfam:RecQ_Zn_bind	366	436	1.8e-12	PFAM
low complexity region	472	499	N/A	INTRINSIC
PDB:4BK0\|B	516	621	2e-51	PDB
Pfam:RecQ5	626	818	3.1e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093911

SMART Domains

Protein: ENSMUSP00000091439
Gene: ENSMUSG00000034427

Domain	Start	End	E-Value	Type
MYSc	1	640	2.4e-134	SMART
IQ	660	682	1.03e1	SMART
Pfam:MyTH4	837	945	2.1e-23	PFAM
low complexity region	1050	1068	N/A	INTRINSIC
low complexity region	1136	1170	N/A	INTRINSIC
low complexity region	1207	1246	N/A	INTRINSIC
low complexity region	1302	1327	N/A	INTRINSIC
low complexity region	1454	1468	N/A	INTRINSIC
low complexity region	1489	1509	N/A	INTRINSIC
SH3	1735	1792	1.15e-7	SMART
Pfam:MyTH4	1928	2029	8.3e-25	PFAM
B41	2032	2235	6.99e-4	SMART
low complexity region	2243	2253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131566

Predicted Effect

probably benign
Transcript: ENSMUST00000131578

SMART Domains

Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752

Domain	Start	End	E-Value	Type
HELICc	1	82	8.68e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136774

Predicted Effect

probably benign
Transcript: ENSMUST00000140174

SMART Domains

Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752

Domain	Start	End	E-Value	Type
DEXDc	25	230	1.13e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144824

Predicted Effect

probably benign
Transcript: ENSMUST00000167507

SMART Domains

Protein: ENSMUSP00000129226
Gene: ENSMUSG00000034427

Domain	Start	End	E-Value	Type
Pfam:MyTH4	100	205	3.1e-24	PFAM
B41	207	410	6.99e-4	SMART
low complexity region	418	428	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152171

SMART Domains

Protein: ENSMUSP00000139148
Gene: ENSMUSG00000048442

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142089

SMART Domains

Protein: ENSMUSP00000138928
Gene: ENSMUSG00000048442

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222123

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

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 helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene express elevated levels of sister chromatid exchange due to a failure to suppress crossovers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,167,634 (GRCm39)	S675R	probably damaging	Het
Akap5	A	T	12: 76,376,122 (GRCm39)	H518L	possibly damaging	Het
Ankfn1	T	C	11: 89,296,423 (GRCm39)	D102G	probably damaging	Het
Aox3	A	T	1: 58,177,391 (GRCm39)	Y202F	probably benign	Het
Arhgef37	G	A	18: 61,637,427 (GRCm39)	L412F	possibly damaging	Het
B4galt3	C	T	1: 171,100,118 (GRCm39)	P121L	probably damaging	Het
BC034090	C	T	1: 155,097,178 (GRCm39)	R640Q	probably damaging	Het
Bhmt	A	T	13: 93,761,900 (GRCm39)	Y128N	probably damaging	Het
Bin3	A	G	14: 70,372,222 (GRCm39)	E173G	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Ccdc14	G	T	16: 34,511,092 (GRCm39)	G22V	possibly damaging	Het
Ccnc	A	T	4: 21,741,955 (GRCm39)	I135L	possibly damaging	Het
Chd3	T	C	11: 69,239,878 (GRCm39)	D1650G	probably benign	Het
Cherp	A	C	8: 73,228,613 (GRCm39)	N14K	probably damaging	Het
Clint1	C	T	11: 45,784,919 (GRCm39)	T306I	possibly damaging	Het
Cyb5r1	T	A	1: 134,335,315 (GRCm39)	Y85N	probably damaging	Het
D830013O20Rik	A	G	12: 73,418,162 (GRCm39)		noncoding transcript	Het
Dapk1	A	T	13: 60,869,671 (GRCm39)	K304N	probably damaging	Het
Dnah6	T	A	6: 73,044,449 (GRCm39)	N3169Y	probably damaging	Het
Dync2h1	A	T	9: 7,169,589 (GRCm39)	I296K	probably benign	Het
Elp2	A	T	18: 24,764,515 (GRCm39)	T621S	probably benign	Het
Eml6	G	T	11: 29,781,128 (GRCm39)	Q635K	possibly damaging	Het
Exph5	G	A	9: 53,278,466 (GRCm39)	M192I	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gas6	C	T	8: 13,518,266 (GRCm39)	V523M	probably damaging	Het
Ggn	A	T	7: 28,873,188 (GRCm39)		probably null	Het
Gimap8	A	G	6: 48,633,287 (GRCm39)	T369A	probably damaging	Het
Grm5	T	C	7: 87,724,080 (GRCm39)	I790T	probably damaging	Het
Gtpbp6	G	A	5: 110,252,790 (GRCm39)	A354V	probably damaging	Het
Habp4	G	A	13: 64,317,995 (GRCm39)		probably null	Het
Has2	A	G	15: 56,531,264 (GRCm39)	W484R	probably damaging	Het
Herc4	G	T	10: 63,079,817 (GRCm39)		probably benign	Het
Igf2	C	A	7: 142,208,136 (GRCm39)	E106D	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Ipo11	A	T	13: 107,056,130 (GRCm39)	N47K	probably benign	Het
Itga4	T	G	2: 79,108,138 (GRCm39)	S197A	probably damaging	Het
Itpr1	T	A	6: 108,417,497 (GRCm39)	M1788K	probably benign	Het
Kbtbd3	C	T	9: 4,330,919 (GRCm39)	T431I	probably benign	Het
Kif5a	A	T	10: 127,075,044 (GRCm39)	V523E	probably benign	Het
Klhl41	A	T	2: 69,513,840 (GRCm39)	D573V	possibly damaging	Het
Kndc1	C	A	7: 139,501,196 (GRCm39)	H828Q	possibly damaging	Het
Leng8	T	A	7: 4,146,609 (GRCm39)	V407D	probably damaging	Het
Mamdc2	C	T	19: 23,288,215 (GRCm39)	E608K	probably benign	Het
Mcf2	T	A	X: 59,122,574 (GRCm39)	R850S	probably damaging	Het
Mmp2	A	G	8: 93,576,831 (GRCm39)	N618S	probably benign	Het
Morn5	A	T	2: 35,942,950 (GRCm39)	M17L	probably benign	Het
Nme8	T	C	13: 19,881,053 (GRCm39)	N26S	probably damaging	Het
Nostrin	C	A	2: 68,975,111 (GRCm39)		probably null	Het
Npy4r	T	A	14: 33,869,154 (GRCm39)	I45F	possibly damaging	Het
Or13a21	T	A	7: 139,999,024 (GRCm39)	I221F	probably damaging	Het
Or1j11	A	G	2: 36,311,931 (GRCm39)	I174V	probably benign	Het
Or2aj5	C	T	16: 19,424,881 (GRCm39)	C179Y	probably benign	Het
Or2w1	T	A	13: 21,317,659 (GRCm39)	M238K	probably benign	Het
Or2w3b	T	C	11: 58,623,214 (GRCm39)	Y259C	possibly damaging	Het
Or4a70	A	G	2: 89,324,342 (GRCm39)	F105L	probably benign	Het
Or5d36	A	G	2: 87,901,063 (GRCm39)	V221A	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
Patl1	T	C	19: 11,917,181 (GRCm39)	L676P	probably damaging	Het
Pcdhb20	G	A	18: 37,638,127 (GRCm39)	G218R	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phldb1	G	T	9: 44,639,333 (GRCm39)	T15N	possibly damaging	Het
Pink1	A	C	4: 138,045,316 (GRCm39)	S253A	probably null	Het
Plag1	A	T	4: 3,904,870 (GRCm39)	L107Q	probably damaging	Het
Pld5	C	A	1: 175,791,579 (GRCm39)	V476L	probably benign	Het
Pramel28	A	T	4: 143,692,637 (GRCm39)	D121E	probably benign	Het
Prrt2	C	T	7: 126,618,581 (GRCm39)	A295T	probably damaging	Het
Ptgs1	A	G	2: 36,127,668 (GRCm39)	I76V	probably benign	Het
Ptprz1	A	G	6: 23,001,026 (GRCm39)	T1039A	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Rgs12	A	G	5: 35,187,872 (GRCm39)	S510G	probably benign	Het
Satb1	G	A	17: 52,089,816 (GRCm39)	Q344*	probably null	Het
Sdr16c5	A	G	4: 3,996,244 (GRCm39)	I283T	probably benign	Het
Serpinb3c	T	C	1: 107,199,574 (GRCm39)	S316G	possibly damaging	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Simc1	A	G	13: 54,651,701 (GRCm39)	I5V	probably benign	Het
Slc27a2	T	C	2: 126,395,535 (GRCm39)	V154A	probably damaging	Het
Slc27a5	A	G	7: 12,731,634 (GRCm39)	L119S	probably damaging	Het
Slc35g2	T	A	9: 100,435,120 (GRCm39)	T184S	possibly damaging	Het
Slc4a7	C	T	14: 14,733,727 (GRCm38)	R46*	probably null	Het
Smcr8	T	C	11: 60,669,010 (GRCm39)	F53L	probably damaging	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spata31d1a	A	G	13: 59,850,370 (GRCm39)	I586T	possibly damaging	Het
Spata31d1c	A	T	13: 65,183,041 (GRCm39)	E194D	possibly damaging	Het
Spats2	A	G	15: 99,076,375 (GRCm39)	E151G	probably damaging	Het
Sugp2	T	A	8: 70,695,861 (GRCm39)	L278Q	possibly damaging	Het
Sult2a7	T	A	7: 14,207,322 (GRCm39)		probably benign	Het
Syde2	G	T	3: 145,694,163 (GRCm39)	G137V	possibly damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Szt2	A	G	4: 118,220,862 (GRCm39)		probably benign	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tlr3	G	T	8: 45,855,823 (GRCm39)	T119N	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem221	T	C	8: 72,008,458 (GRCm39)	E194G	probably benign	Het
Tmem232	C	A	17: 65,807,167 (GRCm39)	V9F	probably benign	Het
Tpm1	G	A	9: 66,941,247 (GRCm39)	Q135*	probably null	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Tuba4a	A	T	1: 75,192,983 (GRCm39)	Y210*	probably null	Het
Tut7	A	G	13: 59,959,352 (GRCm39)	V372A	probably damaging	Het
Vegfa	T	G	17: 46,336,284 (GRCm39)	I279L	probably benign	Het
Vmn2r54	T	A	7: 12,349,804 (GRCm39)	T593S	probably damaging	Het
Vmn2r93	A	G	17: 18,536,840 (GRCm39)	I508V	probably benign	Het
Vps33a	G	T	5: 123,669,244 (GRCm39)		probably null	Het
Wasl	T	A	6: 24,624,360 (GRCm39)	N231I	probably damaging	Het
Zbtb39	A	G	10: 127,578,703 (GRCm39)	N426D	probably benign	Het
Zeb2	T	G	2: 44,887,962 (GRCm39)	H350P	probably damaging	Het
Zfp112	T	C	7: 23,824,725 (GRCm39)	F231S	possibly damaging	Het
Zfp180	T	C	7: 23,803,943 (GRCm39)	S121P	probably benign	Het

Other mutations in Recql5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Recql5	APN	11	115,788,007 (GRCm39)	missense	probably benign	0.04
IGL01589:Recql5	APN	11	115,785,495 (GRCm39)	missense	probably damaging	1.00
IGL02040:Recql5	APN	11	115,823,623 (GRCm39)	missense	possibly damaging	0.89
IGL02131:Recql5	APN	11	115,814,068 (GRCm39)	missense	probably benign	0.01
IGL02198:Recql5	APN	11	115,785,499 (GRCm39)	missense	probably benign	0.00
IGL02236:Recql5	APN	11	115,784,856 (GRCm39)	missense	probably benign	0.01
IGL02501:Recql5	APN	11	115,785,917 (GRCm39)	missense	probably benign	0.26
IGL02980:Recql5	APN	11	115,784,770 (GRCm39)	splice site	probably null
IGL03028:Recql5	APN	11	115,785,257 (GRCm39)	missense	possibly damaging	0.94
PIT4581001:Recql5	UTSW	11	115,823,682 (GRCm39)	missense	possibly damaging	0.53
R0152:Recql5	UTSW	11	115,785,499 (GRCm39)	missense	probably benign
R0269:Recql5	UTSW	11	115,819,050 (GRCm39)	missense	possibly damaging	0.91
R0317:Recql5	UTSW	11	115,785,499 (GRCm39)	missense	probably benign
R0511:Recql5	UTSW	11	115,819,209 (GRCm39)	missense	probably benign	0.00
R0786:Recql5	UTSW	11	115,786,628 (GRCm39)	missense	probably benign
R0975:Recql5	UTSW	11	115,814,082 (GRCm39)	missense	probably damaging	1.00
R1170:Recql5	UTSW	11	115,788,060 (GRCm39)	missense	probably damaging	0.98
R1208:Recql5	UTSW	11	115,783,982 (GRCm39)	missense	probably damaging	0.98
R1208:Recql5	UTSW	11	115,783,982 (GRCm39)	missense	probably damaging	0.98
R1807:Recql5	UTSW	11	115,785,941 (GRCm39)	missense	possibly damaging	0.63
R1872:Recql5	UTSW	11	115,814,135 (GRCm39)	missense	probably benign	0.15
R1878:Recql5	UTSW	11	115,785,927 (GRCm39)	missense	probably benign	0.00
R1935:Recql5	UTSW	11	115,788,017 (GRCm39)	missense	probably benign	0.00
R1936:Recql5	UTSW	11	115,788,017 (GRCm39)	missense	probably benign	0.00
R1945:Recql5	UTSW	11	115,819,123 (GRCm39)	nonsense	probably null
R2011:Recql5	UTSW	11	115,787,923 (GRCm39)	missense	probably benign	0.20
R2023:Recql5	UTSW	11	115,784,466 (GRCm39)	missense	probably benign
R2183:Recql5	UTSW	11	115,787,613 (GRCm39)	missense	probably benign	0.00
R3881:Recql5	UTSW	11	115,784,781 (GRCm39)	missense	probably benign	0.00
R3881:Recql5	UTSW	11	115,784,780 (GRCm39)	missense	probably benign
R4093:Recql5	UTSW	11	115,795,714 (GRCm39)	missense	probably benign	0.05
R4857:Recql5	UTSW	11	115,819,038 (GRCm39)	missense	probably damaging	1.00
R5245:Recql5	UTSW	11	115,784,385 (GRCm39)	missense	probably damaging	1.00
R5323:Recql5	UTSW	11	115,818,215 (GRCm39)	missense	probably damaging	1.00
R5796:Recql5	UTSW	11	115,818,691 (GRCm39)	intron	probably benign
R6160:Recql5	UTSW	11	115,823,613 (GRCm39)	critical splice donor site	probably null
R6229:Recql5	UTSW	11	115,821,540 (GRCm39)	missense	probably damaging	0.96
R6824:Recql5	UTSW	11	115,814,038 (GRCm39)	missense	possibly damaging	0.83
R7013:Recql5	UTSW	11	115,785,402 (GRCm39)	missense	probably benign	0.02
R7043:Recql5	UTSW	11	115,821,502 (GRCm39)	critical splice donor site	probably null
R7135:Recql5	UTSW	11	115,821,498 (GRCm39)	splice site	probably null
R7354:Recql5	UTSW	11	115,819,027 (GRCm39)	missense	probably damaging	1.00
R7373:Recql5	UTSW	11	115,819,198 (GRCm39)	missense	possibly damaging	0.92
R7503:Recql5	UTSW	11	115,785,881 (GRCm39)	missense	probably benign	0.00
R7574:Recql5	UTSW	11	115,819,248 (GRCm39)	missense	probably benign
R7597:Recql5	UTSW	11	115,819,207 (GRCm39)	missense	probably benign	0.03
R7658:Recql5	UTSW	11	115,814,102 (GRCm39)	missense	probably damaging	1.00
R8025:Recql5	UTSW	11	115,818,938 (GRCm39)	missense	probably damaging	1.00
R8038:Recql5	UTSW	11	115,818,178 (GRCm39)	missense	possibly damaging	0.90
R8316:Recql5	UTSW	11	115,784,861 (GRCm39)	missense	possibly damaging	0.46
R8463:Recql5	UTSW	11	115,787,619 (GRCm39)	nonsense	probably null
R8770:Recql5	UTSW	11	115,787,943 (GRCm39)	missense	probably benign	0.00
R8788:Recql5	UTSW	11	115,786,628 (GRCm39)	missense	probably benign
R9083:Recql5	UTSW	11	115,785,475 (GRCm39)	missense	possibly damaging	0.46
R9653:Recql5	UTSW	11	115,788,032 (GRCm39)	missense	probably benign	0.01
R9711:Recql5	UTSW	11	115,784,367 (GRCm39)	missense	probably damaging	1.00
X0026:Recql5	UTSW	11	115,814,087 (GRCm39)	missense	probably damaging	1.00
X0028:Recql5	UTSW	11	115,785,432 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATACCTAAAGGACAGGCTAGG -3'
(R):5'- AGGATGAGCCAACACTAGCC -3'

Sequencing Primer
(F):5'- ATGCAGGGGCTCTGTCCTTC -3'
(R):5'- GCACTCACTGCCTGTTCTAG -3'

Posted On

2014-08-25