Mutagenetix > Incidental Mutation

Incidental Mutation 'R4282:Rec8'

322962

Institutional Source

Beutler Lab

Gene Symbol

Rec8

Ensembl Gene

ENSMUSG00000002324

Gene Name

REC8 meiotic recombination protein

Synonyms

Rec8L1, mrec

MMRRC Submission

041650-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4282 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55855494-55862852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55856091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 11 (H11R)

Ref Sequence

ENSEMBL: ENSMUSP00000002395 (fasta)

Gene Model

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

AlphaFold

Q8C5S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002395
AA Change: H11R

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

SMART Domains

Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324
AA Change: H11R

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

0.0951

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (59/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092K14Rik	A	C	11: 114,089,970 (GRCm39)		noncoding transcript	Het
Abca17	G	T	17: 24,518,034 (GRCm39)	D758E	possibly damaging	Het
Adam28	A	G	14: 68,885,155 (GRCm39)	V65A	possibly damaging	Het
Adgra2	T	A	8: 27,609,272 (GRCm39)	M616K	possibly damaging	Het
Aldh3b2	A	G	19: 4,027,636 (GRCm39)	D59G	probably benign	Het
Ankrd28	A	G	14: 31,467,182 (GRCm39)	V260A	possibly damaging	Het
Bbs7	A	G	3: 36,627,720 (GRCm39)	V689A	probably damaging	Het
Cacna1e	A	G	1: 154,302,296 (GRCm39)	F1653S	probably benign	Het
Cd55b	T	C	1: 130,344,596 (GRCm39)	D213G	probably damaging	Het
Colgalt2	G	A	1: 152,344,282 (GRCm39)	V115M	probably damaging	Het
Ddx60	T	C	8: 62,447,427 (GRCm39)	V1138A	probably damaging	Het
Defa27	A	G	8: 21,805,632 (GRCm39)	N24S	probably benign	Het
Defb40	A	G	8: 19,028,093 (GRCm39)	S14P	probably damaging	Het
Dnmt3a	G	A	12: 3,951,665 (GRCm39)	G681R	probably damaging	Het
Dus2	C	T	8: 106,775,286 (GRCm39)	A271V	probably benign	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fancg	T	C	4: 43,003,830 (GRCm39)	D533G	probably damaging	Het
Frem3	T	C	8: 81,340,770 (GRCm39)	V1021A	probably benign	Het
Gmip	T	A	8: 70,266,251 (GRCm39)		probably benign	Het
Hspb6	T	C	7: 30,252,889 (GRCm39)	S44P	possibly damaging	Het
Jsrp1	T	C	10: 80,646,190 (GRCm39)	I50V	probably benign	Het
Kansl1	T	C	11: 104,269,515 (GRCm39)	N476S	probably benign	Het
Kcnq2	T	C	2: 180,722,946 (GRCm39)	D810G	probably damaging	Het
Magea14	T	C	X: 51,057,867 (GRCm39)	Y273C	probably damaging	Het
Maml2	C	A	9: 13,531,406 (GRCm39)	L207I	possibly damaging	Het
Myo3a	A	T	2: 22,345,089 (GRCm39)	E508D	probably benign	Het
Nav1	T	A	1: 135,385,651 (GRCm39)		probably benign	Het
Ndrg3	A	T	2: 156,790,214 (GRCm39)	C90S	possibly damaging	Het
Orc1	A	G	4: 108,463,471 (GRCm39)	S663G	probably benign	Het
Pcdhb14	T	A	18: 37,583,195 (GRCm39)	L767H	probably damaging	Het
Pcgf1	T	A	6: 83,056,714 (GRCm39)	L90Q	probably damaging	Het
Pnma5	T	C	X: 72,079,036 (GRCm39)	M549V	probably benign	Het
Por	C	A	5: 135,744,815 (GRCm39)	T26K	possibly damaging	Het
Ppp4r3c1	A	T	X: 88,976,105 (GRCm39)	W31R	probably damaging	Het
Qsox1	T	A	1: 155,662,671 (GRCm39)		probably null	Het
Rad51ap2	T	A	12: 11,506,465 (GRCm39)	V129D	probably benign	Het
Rxfp2	T	G	5: 149,993,735 (GRCm39)	V585G	possibly damaging	Het
Sftpd	G	A	14: 40,894,537 (GRCm39)	T294I	probably benign	Het
Sh3gl1	A	G	17: 56,343,456 (GRCm39)	S2P	probably damaging	Het
Slc38a10	A	T	11: 120,020,090 (GRCm39)	F321I	probably damaging	Het
Slc4a10	T	A	2: 62,074,687 (GRCm39)		probably null	Het
Slco6b1	A	G	1: 96,925,115 (GRCm39)		noncoding transcript	Het
Slit1	T	C	19: 41,602,856 (GRCm39)	E985G	probably benign	Het
Smurf1	C	T	5: 144,819,403 (GRCm39)	E575K	probably damaging	Het
Sned1	A	T	1: 93,213,577 (GRCm39)	R426*	probably null	Het
Tas2r123	G	A	6: 132,825,008 (GRCm39)	V302I	possibly damaging	Het
Tmem182	T	C	1: 40,877,530 (GRCm39)	I135T	probably damaging	Het
Tmem67	T	C	4: 12,073,922 (GRCm39)	Y298C	probably damaging	Het
Trappc9	A	G	15: 72,462,641 (GRCm39)	C1026R	probably damaging	Het
Troap	A	G	15: 98,976,713 (GRCm39)	D279G	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r23	T	C	6: 57,903,452 (GRCm39)	T109A	probably benign	Het
Vmn2r25	A	T	6: 123,800,606 (GRCm39)	C579S	probably damaging	Het
Zbtb18	A	G	1: 177,275,045 (GRCm39)	D126G	probably 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
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
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'- AAGGAGGGATGCTTAGCTCC -3'
(R):5'- TTCCTCGCTGGGAGAACAAG -3'

Sequencing Primer
(F):5'- CCTAATTCAGTTGTATAGTCAGTCG -3'
(R):5'- CTGGGAGAACAAGAAGCCCTGATC -3'

Posted On

2015-06-20