Mutagenetix > Incidental Mutation

Incidental Mutation 'R1667:Rec8'

187316

Institutional Source

Beutler Lab

Gene Symbol

Rec8

Ensembl Gene

ENSMUSG00000002324

Gene Name

REC8 meiotic recombination protein

Synonyms

Rec8L1, mrec

MMRRC Submission

039703-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1667 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55855494-55862852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55856253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 37 (N37K)

Ref Sequence

ENSEMBL: ENSMUSP00000002395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002395]

AlphaFold

Q8C5S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002395
AA Change: N37K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324
AA Change: N37K

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

noncoding transcript
Transcript: ENSMUST00000140335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227922

Meta Mutation Damage Score

0.8563

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (76/77)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	G	A	7: 139,425,564 (GRCm39)	A26T	possibly damaging	Het
Adgrg3	T	A	8: 95,760,001 (GRCm39)	Y73*	probably null	Het
Alk	A	T	17: 72,218,562 (GRCm39)	V761E	probably damaging	Het
Ankrd13a	T	C	5: 114,924,794 (GRCm39)	V93A	possibly damaging	Het
Anks1b	T	C	10: 90,347,046 (GRCm39)		probably null	Het
Arb2a	T	A	13: 77,907,635 (GRCm39)	M1K	probably null	Het
Ascl1	T	C	10: 87,328,655 (GRCm39)	N99S	probably benign	Het
Atm	A	T	9: 53,412,232 (GRCm39)	L972Q	probably damaging	Het
Atp2c1	A	T	9: 105,309,996 (GRCm39)	L566Q	probably null	Het
Bank1	T	A	3: 135,799,057 (GRCm39)	Y629F	probably damaging	Het
Bod1l	G	T	5: 41,974,118 (GRCm39)	L2399I	probably benign	Het
Bub1b	G	A	2: 118,471,670 (GRCm39)	G1010D	probably benign	Het
Ces1b	G	A	8: 93,783,532 (GRCm39)	H563Y	possibly damaging	Het
Cfap70	T	C	14: 20,454,225 (GRCm39)	E853G	probably benign	Het
Cfh	T	C	1: 140,033,261 (GRCm39)	E779G	probably benign	Het
Cox7c	A	G	13: 86,194,003 (GRCm39)	S7P	probably benign	Het
Cyp2c67	A	G	19: 39,632,034 (GRCm39)		probably null	Het
Dhx30	G	T	9: 109,914,513 (GRCm39)	L995I	possibly damaging	Het
Dhx30	G	C	9: 109,914,514 (GRCm39)	N957K	possibly damaging	Het
Dsc3	T	C	18: 20,124,617 (GRCm39)	T36A	possibly damaging	Het
Dstyk	A	G	1: 132,384,657 (GRCm39)	D717G	probably damaging	Het
Dusp10	A	G	1: 183,769,055 (GRCm39)	D7G	probably damaging	Het
E230001N04Rik	T	G	17: 28,742,935 (GRCm39)		noncoding transcript	Het
Ece2	T	C	16: 20,456,588 (GRCm39)	S330P	possibly damaging	Het
Frmd5	ATAGTGGAATTGTTCAAACTC	ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC	2: 121,379,211 (GRCm39)		probably null	Het
Gata3	T	C	2: 9,882,360 (GRCm39)	H14R	possibly damaging	Het
Ggta1	T	A	2: 35,304,295 (GRCm39)	I75F	possibly damaging	Het
Hcn1	A	T	13: 117,739,609 (GRCm39)	I124F	unknown	Het
Herpud1	A	C	8: 95,115,994 (GRCm39)	D53A	probably damaging	Het
Inhba	T	A	13: 16,201,209 (GRCm39)	L257Q	possibly damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Jmy	T	A	13: 93,634,878 (GRCm39)	S313C	probably damaging	Het
Lpo	G	A	11: 87,698,067 (GRCm39)		probably benign	Het
Lsg1	T	C	16: 30,390,170 (GRCm39)	E315G	probably damaging	Het
Lsm14a	T	A	7: 34,065,079 (GRCm39)	T167S	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map3k2	T	C	18: 32,336,845 (GRCm39)		probably benign	Het
Mapk12	A	T	15: 89,024,344 (GRCm39)	M81K	probably damaging	Het
Matn2	T	A	15: 34,378,878 (GRCm39)	C305S	probably damaging	Het
Mgam	T	C	6: 40,653,978 (GRCm39)	Y844H	possibly damaging	Het
Mgat5b	A	G	11: 116,838,203 (GRCm39)	R281G	probably benign	Het
Mon1b	T	G	8: 114,368,589 (GRCm39)	C497G	probably damaging	Het
Mybbp1a	A	T	11: 72,336,043 (GRCm39)	H452L	probably benign	Het
Mybl2	A	G	2: 162,917,616 (GRCm39)	T41A	probably damaging	Het
Ncoa5	A	G	2: 164,843,623 (GRCm39)	V540A	probably damaging	Het
Nup93	T	A	8: 95,019,315 (GRCm39)	V47E	possibly damaging	Het
Or10a4	A	T	7: 106,696,977 (GRCm39)	M102L	probably benign	Het
Or5j3	A	G	2: 86,129,080 (GRCm39)	M307V	probably null	Het
Orc6	T	A	8: 86,031,914 (GRCm39)	C100S	possibly damaging	Het
Otogl	G	T	10: 107,649,826 (GRCm39)	Y1176*	probably null	Het
Patj	A	T	4: 98,301,264 (GRCm39)	D183V	probably damaging	Het
Pik3r3	A	G	4: 116,079,514 (GRCm39)	T4A	probably damaging	Het
Pla2g4d	G	A	2: 120,100,631 (GRCm39)		probably benign	Het
Pla2r1	A	G	2: 60,250,601 (GRCm39)	I1407T	probably benign	Het
Pramel13	A	T	4: 144,119,606 (GRCm39)	C320*	probably null	Het
Prex2	A	T	1: 11,256,981 (GRCm39)	H1231L	probably benign	Het
Prkca	A	G	11: 107,874,772 (GRCm39)	V390A	probably damaging	Het
Psmd13	T	A	7: 140,470,522 (GRCm39)	W255R	probably damaging	Het
Rnf207	C	T	4: 152,397,672 (GRCm39)	E361K	probably benign	Het
Serpina3f	T	A	12: 104,183,699 (GRCm39)	L187Q	probably damaging	Het
Skint11	A	T	4: 114,051,978 (GRCm39)	T109S	probably damaging	Het
Slc7a8	A	G	14: 54,962,306 (GRCm39)	S443P	probably damaging	Het
Slc8b1	T	A	5: 120,659,147 (GRCm39)	F197Y	probably benign	Het
Sox2	T	C	3: 34,704,568 (GRCm39)	Y2H	probably damaging	Het
Speg	T	A	1: 75,387,193 (GRCm39)		probably benign	Het
Tlr3	T	C	8: 45,853,874 (GRCm39)	N149D	probably benign	Het
Trim60	A	C	8: 65,454,116 (GRCm39)	D44E	probably benign	Het
Ugt1a7c	A	G	1: 88,023,657 (GRCm39)	Y272C	probably damaging	Het
Vmn1r4	T	A	6: 56,933,738 (GRCm39)	Y81N	probably damaging	Het
Vmn2r73	A	T	7: 85,506,889 (GRCm39)	C808S	probably benign	Het
Ythdf3	T	C	3: 16,259,056 (GRCm39)	I412T	possibly damaging	Het
Zfp672	T	C	11: 58,206,921 (GRCm39)	T467A	possibly damaging	Het
Zfp985	A	T	4: 147,668,407 (GRCm39)	Q425L	possibly damaging	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
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
R6113:Rec8	UTSW	14	55,859,935 (GRCm39)	missense	probably damaging	0.99
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'- TATCCTAACGTGCTTCAGCGCC -3'
(R):5'- CCTCCATATCAATGCGAATCCGCAG -3'

Sequencing Primer
(F):5'- GCCACACAGGCTGCTTC -3'
(R):5'- CACAAGGTACTGGCACTGTTG -3'

Posted On

2014-05-09