Mutagenetix > Incidental Mutation

Incidental Mutation 'R6113:Rec8'

484975

Institutional Source

Beutler Lab

Gene Symbol

Rec8

Ensembl Gene

ENSMUSG00000002324

Gene Name

REC8 meiotic recombination protein

Synonyms

Rec8L1, mrec

MMRRC Submission

044262-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55855494-55862852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55859935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 228 (A228T)

Ref Sequence

ENSEMBL: ENSMUSP00000002395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002395] [ENSMUST00000047131] [ENSMUST00000135221] [ENSMUST00000141499] [ENSMUST00000148351]

AlphaFold

Q8C5S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002395
AA Change: A228T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324
AA Change: A228T

Domain	Start	End	E-Value	Type
Pfam:Rad21_Rec8_N	1	117	2.2e-26	PFAM
low complexity region	235	249	N/A	INTRINSIC
low complexity region	329	347	N/A	INTRINSIC
coiled coil region	423	458	N/A	INTRINSIC
low complexity region	497	521	N/A	INTRINSIC
Pfam:Rad21_Rec8	536	590	9.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047131

SMART Domains

Protein: ENSMUSP00000036555
Gene: ENSMUSG00000002319

Domain	Start	End	E-Value	Type
IBN_N	24	90	4.4e-7	SMART
Blast:IBN_N	101	170	4e-20	BLAST
Blast:IBN_N	224	293	4e-31	BLAST
low complexity region	307	321	N/A	INTRINSIC
Pfam:HEAT	395	425	7.7e-7	PFAM
Blast:ARM	465	499	8e-13	BLAST
low complexity region	500	511	N/A	INTRINSIC
low complexity region	636	660	N/A	INTRINSIC
low complexity region	733	743	N/A	INTRINSIC
low complexity region	811	830	N/A	INTRINSIC
low complexity region	851	864	N/A	INTRINSIC
Pfam:HEAT	901	931	1.9e-5	PFAM
Pfam:HEAT_EZ	914	969	2.3e-9	PFAM
low complexity region	1043	1053	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126064

Predicted Effect

probably benign
Transcript: ENSMUST00000135221

SMART Domains

Protein: ENSMUSP00000123692
Gene: ENSMUSG00000002319

Domain	Start	End	E-Value	Type
IBN_N	24	90	4.4e-7	SMART
Blast:IBN_N	101	170	3e-20	BLAST
Blast:IBN_N	224	293	2e-31	BLAST
low complexity region	307	321	N/A	INTRINSIC
Pfam:HEAT	395	425	7.4e-7	PFAM
Blast:ARM	465	499	7e-13	BLAST
low complexity region	500	511	N/A	INTRINSIC
low complexity region	636	660	N/A	INTRINSIC
low complexity region	733	743	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141425

Predicted Effect

probably benign
Transcript: ENSMUST00000141499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227922

Predicted Effect

probably benign
Transcript: ENSMUST00000148351

SMART Domains

Protein: ENSMUSP00000117543
Gene: ENSMUSG00000002319

Domain	Start	End	E-Value	Type
IBN_N	24	90	4.4e-7	SMART

Meta Mutation Damage Score

0.1107

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are infertile and exhibit small ovaries and testes. Females show absence of ovarian follicles and abnormal meiosis, while males exhibit abnormal chromosome pairing during meiosis, abnormal synaptonemal complex formation, and arrest of male meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	A	16: 8,390,764 (GRCm39)	T7N	probably benign	Het
Aldh1l2	G	T	10: 83,343,998 (GRCm39)	C359*	probably null	Het
Atpsckmt	T	C	15: 31,608,308 (GRCm39)	Y120H	probably damaging	Het
Bpifb6	G	A	2: 153,752,651 (GRCm39)	E384K	probably benign	Het
Chtf18	G	A	17: 25,941,841 (GRCm39)	R544C	probably damaging	Het
Cilp2	T	C	8: 70,335,009 (GRCm39)	D663G	probably benign	Het
Cplx3	T	A	9: 57,509,723 (GRCm39)	I92F	probably damaging	Het
Cr1l	T	C	1: 194,813,719 (GRCm39)		probably benign	Het
Cyp1a1	T	A	9: 57,609,174 (GRCm39)	F323I	probably damaging	Het
Dclk1	T	C	3: 55,397,240 (GRCm39)	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,453,900 (GRCm39)	L261P	probably damaging	Het
Dcst2	T	C	3: 89,275,192 (GRCm39)	S312P	possibly damaging	Het
Dnah17	A	G	11: 118,017,101 (GRCm39)	L213P	probably damaging	Het
Dnd1	T	A	18: 36,898,448 (GRCm39)	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,158,867 (GRCm39)	N121S	probably benign	Het
Dsp	T	A	13: 38,376,023 (GRCm39)	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,586,848 (GRCm39)	V943A	probably benign	Het
Eml5	T	A	12: 98,790,933 (GRCm39)	K1322*	probably null	Het
Fgf23	A	G	6: 127,055,117 (GRCm39)	T76A	probably benign	Het
Fgf6	T	C	6: 126,992,900 (GRCm39)		probably null	Het
Fkbp15	G	A	4: 62,258,884 (GRCm39)	T124I	probably benign	Het
Gm12185	A	T	11: 48,806,167 (GRCm39)	H341Q	possibly damaging	Het
Gm20647	A	G	5: 72,487,143 (GRCm39)		probably benign	Het
Lrp2	G	C	2: 69,313,901 (GRCm39)	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673 (GRCm39)	T224A	probably benign	Het
Ly75	T	G	2: 60,199,217 (GRCm39)	I175L	probably benign	Het
Morc2b	G	T	17: 33,357,042 (GRCm39)	Y243*	probably null	Het
Myo18b	C	G	5: 113,014,251 (GRCm39)	D764H	probably damaging	Het
Naip6	T	C	13: 100,435,794 (GRCm39)	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,261,422 (GRCm39)	I21N	possibly damaging	Het
P3h2	A	T	16: 25,799,903 (GRCm39)	I430K	probably benign	Het
Pcdh9	A	G	14: 94,124,544 (GRCm39)	V542A	probably damaging	Het
Pkp3	T	A	7: 140,662,569 (GRCm39)	N60K	probably damaging	Het
Pold1	C	A	7: 44,187,124 (GRCm39)	G686C	probably damaging	Het
Prdm6	T	A	18: 53,606,673 (GRCm39)	L58Q	probably damaging	Het
Rab13	C	A	3: 90,132,173 (GRCm39)	R86S	probably benign	Het
Rad21l	A	C	2: 151,499,398 (GRCm39)	L265V	probably damaging	Het
Rgs12	C	A	5: 35,177,667 (GRCm39)	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,537,141 (GRCm39)	N670D	possibly damaging	Het
Slc17a7	A	G	7: 44,824,175 (GRCm39)	T464A	possibly damaging	Het
Srcap	C	A	7: 127,159,453 (GRCm39)		probably benign	Het
Srgap2	A	T	1: 131,283,243 (GRCm39)		probably null	Het
Tenm1	C	T	X: 41,916,072 (GRCm39)	G404E	probably damaging	Het
Thpo	C	A	16: 20,547,597 (GRCm39)		probably benign	Het
Tle4	A	T	19: 14,572,952 (GRCm39)		probably null	Het
Tnfrsf14	T	C	4: 155,008,949 (GRCm39)	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,887,182 (GRCm39)	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,093,313 (GRCm39)	A82V	probably benign	Het
Trib1	C	T	15: 59,523,487 (GRCm39)	R174*	probably null	Het
Trpv3	G	A	11: 73,176,844 (GRCm39)	V408I	probably benign	Het
Tyk2	A	T	9: 21,019,218 (GRCm39)	V1068E	probably damaging	Het
Usp35	A	G	7: 96,973,533 (GRCm39)	S230P	probably damaging	Het
Utp25	T	C	1: 192,811,810 (GRCm39)	I46V	probably null	Het
Vav1	T	A	17: 57,608,884 (GRCm39)	D349E	probably benign	Het
Vcan	T	A	13: 89,805,655 (GRCm39)	R114*	probably null	Het
Vmn1r25	T	C	6: 57,955,557 (GRCm39)	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,398,820 (GRCm39)	T720A	probably benign	Het
Wdr72	T	A	9: 74,059,923 (GRCm39)	D444E	probably benign	Het
Zfhx3	T	A	8: 109,674,053 (GRCm39)	M1701K	probably benign	Het

Other mutations in Rec8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Rec8	APN	14	55,860,972 (GRCm39)	nonsense	probably null
IGL00427:Rec8	APN	14	55,856,108 (GRCm39)	missense	probably damaging	1.00
IGL02116:Rec8	APN	14	55,862,336 (GRCm39)	splice site	probably null
R1349:Rec8	UTSW	14	55,856,431 (GRCm39)	missense	probably damaging	1.00
R1372:Rec8	UTSW	14	55,856,431 (GRCm39)	missense	probably damaging	1.00
R1564:Rec8	UTSW	14	55,859,732 (GRCm39)	splice site	probably null
R1667:Rec8	UTSW	14	55,856,253 (GRCm39)	missense	probably damaging	1.00
R1970:Rec8	UTSW	14	55,861,599 (GRCm39)	missense	probably damaging	1.00
R3157:Rec8	UTSW	14	55,862,763 (GRCm39)	missense	probably damaging	0.96
R3625:Rec8	UTSW	14	55,859,954 (GRCm39)	missense	possibly damaging	0.94
R3919:Rec8	UTSW	14	55,858,716 (GRCm39)	missense	probably benign	0.02
R4280:Rec8	UTSW	14	55,856,091 (GRCm39)	missense	probably damaging	1.00
R4282:Rec8	UTSW	14	55,856,091 (GRCm39)	missense	probably damaging	1.00
R4283:Rec8	UTSW	14	55,856,091 (GRCm39)	missense	probably damaging	1.00
R4622:Rec8	UTSW	14	55,862,215 (GRCm39)	missense	probably damaging	1.00
R4894:Rec8	UTSW	14	55,862,787 (GRCm39)	missense	probably damaging	1.00
R5488:Rec8	UTSW	14	55,860,283 (GRCm39)	missense	probably benign	0.00
R5489:Rec8	UTSW	14	55,860,283 (GRCm39)	missense	probably benign	0.00
R6264:Rec8	UTSW	14	55,856,636 (GRCm39)	missense	probably damaging	1.00
R6439:Rec8	UTSW	14	55,856,076 (GRCm39)	missense	possibly damaging	0.50
R7952:Rec8	UTSW	14	55,862,760 (GRCm39)	missense	possibly damaging	0.93
Z1088:Rec8	UTSW	14	55,862,604 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGCAGATTGAAGTGAGTTCCCC -3'
(R):5'- AAACCAGCACCTTCTAGGGC -3'

Sequencing Primer
(F):5'- AGATTGAAGTGAGTTCCCCCATCC -3'
(R):5'- GTTCTTCCCTGGATTCTGCAGAAAG -3'

Posted On

2017-08-16