Mutagenetix > Incidental Mutation

Incidental Mutation 'R6264:Rec8'

506907

Institutional Source

Beutler Lab

Gene Symbol

Rec8

Ensembl Gene

ENSMUSG00000002324

Gene Name

REC8 meiotic recombination protein

Synonyms

Rec8L1, mrec

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6264 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55855494-55862852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55856636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 109 (D109E)

Ref Sequence

ENSEMBL: ENSMUSP00000002395 (fasta)

Gene Model

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

AlphaFold

Q8C5S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002395
AA Change: D109E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324
AA Change: D109E

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: ENSMUST00000141425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227922

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,264,824 (GRCm39)	Y175H	probably damaging	Het
Agtpbp1	A	T	13: 59,598,114 (GRCm39)	V1165D	possibly damaging	Het
Ahsg	A	G	16: 22,717,611 (GRCm39)	D224G	probably benign	Het
Akap11	T	C	14: 78,749,861 (GRCm39)	D842G	possibly damaging	Het
Anln	T	C	9: 22,245,413 (GRCm39)	N186D	possibly damaging	Het
Aqr	A	G	2: 113,940,445 (GRCm39)	Y1234H	probably damaging	Het
Ccdc162	A	G	10: 41,570,464 (GRCm39)	F7S	probably benign	Het
Cltc	T	C	11: 86,596,084 (GRCm39)	Y1222C	probably damaging	Het
Coro2a	C	T	4: 46,562,912 (GRCm39)	V81I	probably damaging	Het
Cpa5	T	C	6: 30,613,984 (GRCm39)	V42A	probably damaging	Het
D2hgdh	A	G	1: 93,754,177 (GRCm39)	Y50C	probably damaging	Het
Ddx6	A	G	9: 44,540,049 (GRCm39)	N326D	probably damaging	Het
Dedd2	A	G	7: 24,903,215 (GRCm39)	L248P	possibly damaging	Het
Frem3	T	A	8: 81,341,832 (GRCm39)	I1375N	probably damaging	Het
Gm12185	T	C	11: 48,807,002 (GRCm39)	N63S	probably benign	Het
H2-Aa	A	G	17: 34,502,172 (GRCm39)	S250P	probably damaging	Het
Hbs1l	T	C	10: 21,243,656 (GRCm39)	S667P	possibly damaging	Het
Hc	T	A	2: 34,896,285 (GRCm39)		probably null	Het
Hoxd4	A	T	2: 74,557,729 (GRCm39)	Y36F	possibly damaging	Het
Ifi207	A	G	1: 173,555,111 (GRCm39)	V864A	probably damaging	Het
Igsf10	T	A	3: 59,235,928 (GRCm39)	T1418S	possibly damaging	Het
Klhl41	T	C	2: 69,510,176 (GRCm39)		probably null	Het
Lman2l	T	C	1: 36,477,850 (GRCm39)	N162S	probably damaging	Het
Lrr1	T	G	12: 69,215,655 (GRCm39)	V9G	probably damaging	Het
Marchf5	T	C	19: 37,198,140 (GRCm39)	I127T	probably damaging	Het
Med12l	T	C	3: 59,163,423 (GRCm39)	L1350P	probably damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Myh10	T	A	11: 68,636,241 (GRCm39)	I210N	probably benign	Het
Myo5c	A	G	9: 75,182,836 (GRCm39)	N825S	probably benign	Het
Nav3	T	C	10: 109,524,694 (GRCm39)	T2312A	probably damaging	Het
Ndrg4	G	T	8: 96,436,396 (GRCm39)	R208L	probably damaging	Het
Nell2	G	A	15: 95,244,706 (GRCm39)	P464S	probably damaging	Het
Nrxn3	T	A	12: 90,299,011 (GRCm39)	Y374N	probably damaging	Het
Oprd1	A	C	4: 131,841,365 (GRCm39)	C198G	possibly damaging	Het
Pik3ca	T	C	3: 32,494,863 (GRCm39)		probably null	Het
Plin4	T	G	17: 56,411,787 (GRCm39)	D748A	possibly damaging	Het
Pramel23	T	G	4: 143,425,722 (GRCm39)	T74P	possibly damaging	Het
Prkg2	T	G	5: 99,082,223 (GRCm39)	K52Q	probably benign	Het
Ptprk	A	T	10: 28,442,669 (GRCm39)	E890D	probably damaging	Het
Rab27b	T	C	18: 70,122,659 (GRCm39)	D100G	probably damaging	Het
Ranbp6	T	C	19: 29,790,026 (GRCm39)	T109A	probably benign	Het
Rarb	T	A	14: 16,818,819 (GRCm38)	M17L	probably benign	Het
Rasgrf2	T	C	13: 92,167,293 (GRCm39)	H260R	probably damaging	Het
Scd4	C	A	19: 44,327,398 (GRCm39)	S158*	probably null	Het
Scn7a	T	A	2: 66,505,870 (GRCm39)	E1673V	possibly damaging	Het
Sit1	A	T	4: 43,482,651 (GRCm39)	D169E	possibly damaging	Het
Slc16a14	G	T	1: 84,885,130 (GRCm39)	Q470K	probably benign	Het
Slc43a2	T	A	11: 75,457,900 (GRCm39)	C392S	possibly damaging	Het
Smg1	A	G	7: 117,765,310 (GRCm39)		probably benign	Het
Sstr2	A	T	11: 113,515,932 (GRCm39)	I284F	probably damaging	Het
Tep1	C	T	14: 51,082,970 (GRCm39)	V1013M	probably damaging	Het
Tmem120b	T	G	5: 123,253,763 (GRCm39)	L232R	probably damaging	Het
Tmem9b	C	A	7: 109,344,612 (GRCm39)	V75F	probably damaging	Het
Trappc3	A	G	4: 126,167,731 (GRCm39)	S97G	probably damaging	Het
Ube3c	T	C	5: 29,795,829 (GRCm39)	F73L	probably damaging	Het
Vmn1r127	C	A	7: 21,052,930 (GRCm39)	C286F	probably benign	Het
Vmn1r44	T	C	6: 89,870,652 (GRCm39)	S133P	probably benign	Het
Vps8	C	T	16: 21,378,099 (GRCm39)	Q635*	probably null	Het
Vwa8	A	G	14: 79,324,252 (GRCm39)	E1185G	possibly damaging	Het
Zfp354c	G	A	11: 50,706,274 (GRCm39)	T267I	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
R6113:Rec8	UTSW	14	55,859,935 (GRCm39)	missense	probably damaging	0.99
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'- GGGTCTACTTTCAACAGTGCC -3'
(R):5'- TTCCAGCGTCTCCATCATGG -3'

Sequencing Primer
(F):5'- AACAGTGCCAGTACCTTGTG -3'
(R):5'- AGAGAGCCCACTTTATTGGC -3'

Posted On

2018-03-15