Incidental Mutation 'R5488:Rec8'
| ID |
430482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rec8
|
| Ensembl Gene |
ENSMUSG00000002324 |
| Gene Name |
REC8 meiotic recombination protein |
| Synonyms |
Rec8L1, mrec |
| MMRRC Submission |
043049-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55855494-55862852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55860283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 291
(Q291L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002395]
[ENSMUST00000047131]
[ENSMUST00000135221]
[ENSMUST00000141499]
[ENSMUST00000148351]
|
| AlphaFold |
Q8C5S7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002395
AA Change: Q291L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324
AA Change: Q291L
| 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: ENSMUST00000155464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156420
|
| 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: ENSMUST00000227922
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
97% (58/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,851,473 (GRCm39) |
V817D |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,183,009 (GRCm39) |
V1016A |
probably benign |
Het |
| Ano2 |
G |
T |
6: 126,016,216 (GRCm39) |
M916I |
possibly damaging |
Het |
| Aqr |
T |
C |
2: 113,963,554 (GRCm39) |
N632S |
probably damaging |
Het |
| Cd48 |
G |
A |
1: 171,523,273 (GRCm39) |
V39I |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,848,324 (GRCm39) |
D710G |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,068,274 (GRCm39) |
T344A |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,450,505 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
A |
T |
8: 11,362,550 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,258,318 (GRCm39) |
R579H |
probably damaging |
Het |
| Cripto |
G |
A |
9: 110,772,265 (GRCm39) |
R44C |
probably benign |
Het |
| Cyp2c69 |
T |
G |
19: 39,839,603 (GRCm39) |
Q340P |
probably null |
Het |
| D630003M21Rik |
T |
A |
2: 158,058,941 (GRCm39) |
T320S |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,173,782 (GRCm39) |
S129T |
possibly damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 59,001,303 (GRCm39) |
L8Q |
probably null |
Het |
| Fam83b |
T |
C |
9: 76,452,881 (GRCm39) |
N62S |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,121,266 (GRCm39) |
V94E |
probably damaging |
Het |
| Gprc5a |
T |
C |
6: 135,055,868 (GRCm39) |
V105A |
probably damaging |
Het |
| Gvin3 |
T |
A |
7: 106,200,797 (GRCm39) |
|
noncoding transcript |
Het |
| Itga2 |
A |
T |
13: 114,979,971 (GRCm39) |
W1077R |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,332 (GRCm39) |
D1228G |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,563 (GRCm39) |
Y391H |
probably damaging |
Het |
| Kdelr2 |
T |
A |
5: 143,389,784 (GRCm39) |
I23N |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,335 (GRCm39) |
|
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,824,566 (GRCm39) |
E216G |
probably damaging |
Het |
| Mark4 |
G |
T |
7: 19,163,532 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
A |
G |
2: 4,996,929 (GRCm39) |
W851R |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,257,276 (GRCm39) |
Y14C |
probably benign |
Het |
| Miga1 |
CACAACAACAACAACAACA |
CACAACAACAACAACA |
3: 152,039,083 (GRCm39) |
|
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,643,958 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,117,359 (GRCm39) |
D361V |
probably benign |
Het |
| Nrip3 |
T |
C |
7: 109,361,045 (GRCm39) |
T210A |
probably damaging |
Het |
| Or12d2 |
T |
C |
17: 37,624,559 (GRCm39) |
T239A |
probably damaging |
Het |
| Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,335,803 (GRCm39) |
G706S |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,382,762 (GRCm39) |
P1197L |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,489,480 (GRCm39) |
S273G |
probably benign |
Het |
| Pkn3 |
T |
C |
2: 29,978,596 (GRCm39) |
|
probably null |
Het |
| Rab40c |
G |
A |
17: 26,109,643 (GRCm39) |
T78I |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sart3 |
A |
G |
5: 113,909,441 (GRCm39) |
W86R |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,220,855 (GRCm39) |
D462G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,934,946 (GRCm39) |
T143A |
probably benign |
Het |
| Tardbp |
A |
G |
4: 148,703,097 (GRCm39) |
F289S |
probably benign |
Het |
| Tdpoz1 |
T |
A |
3: 93,577,974 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Tmem117 |
ACCC |
ACC |
15: 94,992,698 (GRCm39) |
|
probably null |
Het |
| Trim43a |
A |
T |
9: 88,464,229 (GRCm39) |
I47F |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,580,392 (GRCm39) |
T202S |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,770,688 (GRCm39) |
I2044L |
probably benign |
Het |
| Wdr5 |
T |
G |
2: 27,415,165 (GRCm39) |
D192E |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,193,712 (GRCm39) |
K1176E |
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 |
|
|
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 |
|
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'- ACCTGGGAATGGACAGTGTC -3'
(R):5'- AGACTAGTCCTCACTCTTACAGC -3'
Sequencing Primer
(F):5'- CTTCTTTCTGCAGAATCCAGGGAAG -3'
(R):5'- AGTCCTCACTCTTACAGCTACCAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation