Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Rec8'

377516

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 #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55855494-55862852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55862787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 582 (L582P)

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: L582P

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

SMART Domains

Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324
AA Change: L582P

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

noncoding transcript
Transcript: ENSMUST00000127773

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: ENSMUST00000141425

Predicted Effect

probably benign
Transcript: ENSMUST00000141499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146528

Predicted Effect

probably benign
Transcript: ENSMUST00000156420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155464

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227922

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,609,975 (GRCm39)	Y176*	probably null	Het
Akap13	T	A	7: 75,375,068 (GRCm39)	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,585,332 (GRCm39)	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,891,183 (GRCm39)		probably null	Het
Cacna1e	G	T	1: 154,364,551 (GRCm39)	S341*	probably null	Het
Camk1d	G	A	2: 5,359,539 (GRCm39)	S161L	probably damaging	Het
Cdh23	G	T	10: 60,173,630 (GRCm39)	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629 (GRCm39)	I1276N	probably damaging	Het
Clca3a1	A	G	3: 144,719,662 (GRCm39)	V436A	probably damaging	Het
Ctcfl	G	A	2: 172,959,196 (GRCm39)	P177S	probably benign	Het
Dab2ip	A	G	2: 35,620,539 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011 (GRCm39)	S495R	probably benign	Het
Espl1	A	G	15: 102,230,758 (GRCm39)		probably null	Het
Eya4	T	C	10: 22,985,753 (GRCm39)	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,565,913 (GRCm39)	T554R	probably benign	Het
Fbh1	A	T	2: 11,767,771 (GRCm39)	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,490,751 (GRCm39)	C1023R	probably damaging	Het
Helz2	G	C	2: 180,877,940 (GRCm39)	P953A	probably benign	Het
Ifi204	G	T	1: 173,587,808 (GRCm39)	S117Y	probably damaging	Het
Ift70a1	T	C	2: 75,810,088 (GRCm39)	*665W	probably null	Het
Igfn1	G	A	1: 135,882,520 (GRCm39)	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,325,634 (GRCm39)	T1101A	probably benign	Het
Ipo13	A	C	4: 117,760,638 (GRCm39)	I614S	probably damaging	Het
Ipo13	A	G	4: 117,761,687 (GRCm39)	I476T	possibly damaging	Het
Kdm2b	C	A	5: 123,079,030 (GRCm39)	E308*	probably null	Het
Klhl20	A	T	1: 160,937,102 (GRCm39)	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,030,151 (GRCm39)	F64L	probably benign	Het
Ldlrad3	C	T	2: 101,888,293 (GRCm39)	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,915,530 (GRCm39)	T161A	probably benign	Het
Lrriq1	A	T	10: 102,997,613 (GRCm39)	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,473,268 (GRCm39)	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,468,856 (GRCm39)	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877 (GRCm39)	S651A	probably damaging	Het
Or10ak13	A	T	4: 118,639,483 (GRCm39)	C100S	probably damaging	Het
Or2w6	T	C	13: 21,843,352 (GRCm39)	N47S	probably damaging	Het
Or4c109	T	C	2: 88,817,783 (GRCm39)	I254M	possibly damaging	Het
Rag2	T	C	2: 101,460,022 (GRCm39)	S111P	probably damaging	Het
Rai1	T	A	11: 60,077,572 (GRCm39)	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,033,115 (GRCm39)	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,020,374 (GRCm39)	S205L	probably damaging	Het
Retn	G	A	8: 3,707,358 (GRCm39)	R106H	probably damaging	Het
Rnf112	A	G	11: 61,343,488 (GRCm39)	L116P	probably damaging	Het
Rnf213	T	C	11: 119,372,066 (GRCm39)	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,411,409 (GRCm39)	I399M	probably benign	Het
Sez6	G	T	11: 77,866,086 (GRCm39)	G738V	probably damaging	Het
Spata17	A	G	1: 186,872,643 (GRCm39)	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,849,542 (GRCm39)	V862D	probably damaging	Het
Sptb	A	G	12: 76,671,768 (GRCm39)		probably null	Het
Srpk2	C	A	5: 23,750,527 (GRCm39)	G59W	probably damaging	Het
Tyro3	T	C	2: 119,632,779 (GRCm39)	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,452,280 (GRCm39)	S108P	probably damaging	Het
Usp2	C	T	9: 43,987,125 (GRCm39)	S141L	probably benign	Het
Vamp5	T	C	6: 72,347,181 (GRCm39)	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,903,310 (GRCm39)	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,454,829 (GRCm39)	S490N	probably benign	Het
Vps39	A	T	2: 120,183,440 (GRCm39)	I10N	probably damaging	Het
Vwf	C	T	6: 125,622,897 (GRCm39)	Q1755*	probably null	Het
Wdfy4	A	T	14: 32,877,717 (GRCm39)	H82Q	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,117,843 (GRCm39)	T852A	probably benign	Het
Zfp1	T	A	8: 112,396,355 (GRCm39)	C92*	probably null	Het
Zfp1004	T	A	2: 150,033,899 (GRCm39)	C104*	probably null	Het
Zfp426	A	T	9: 20,386,369 (GRCm39)		probably benign	Het
Zfp442	C	T	2: 150,253,130 (GRCm39)		probably null	Het
Zfp74	T	C	7: 29,635,470 (GRCm39)		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
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'- AAAGTTGGCTTCTCGGGTC -3'
(R):5'- AGAAGTCAGAATGCGGTCCAC -3'

Sequencing Primer
(F):5'- AAAGTTGGCTTCTCGGGTCTTCTATC -3'
(R):5'- TCCAGTGAGGCAGGATATG -3'

Posted On

2016-03-17