Incidental Mutation 'R3116:Rad21'
| ID |
264048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad21
|
| Ensembl Gene |
ENSMUSG00000022314 |
| Gene Name |
RAD21 cohesin complex component |
| Synonyms |
SCC1 |
| MMRRC Submission |
040589-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3116 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
51825636-51855143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51828397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 557
(E557V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022927]
|
| AlphaFold |
Q61550 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022927
AA Change: E557V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022927
Gene: ENSMUSG00000022314
AA Change: E557V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad21_Rec8_N
|
1 |
107 |
6.6e-43 |
PFAM |
|
low complexity region
|
267 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
547 |
N/A |
INTRINSIC |
|
Pfam:Rad21_Rec8
|
578 |
632 |
2.4e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit prenatal lethality, reduced male fertility, and produce oocytes that fail to maintain sister chromatids in the first mitosis following fertilization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,946,610 (GRCm39) |
I37F |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,331 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,521,953 (GRCm39) |
N357S |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,520,995 (GRCm39) |
F2783S |
probably damaging |
Het |
| Desi2 |
T |
A |
1: 178,072,008 (GRCm39) |
M104K |
probably damaging |
Het |
| Disp1 |
C |
T |
1: 182,870,486 (GRCm39) |
V645I |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,165,858 (GRCm39) |
H1914L |
probably benign |
Het |
| Fdft1 |
T |
C |
14: 63,415,147 (GRCm39) |
I28M |
probably benign |
Het |
| Ffar3 |
T |
C |
7: 30,555,231 (GRCm39) |
M30V |
probably benign |
Het |
| Grm3 |
A |
T |
5: 9,620,752 (GRCm39) |
F164Y |
probably damaging |
Het |
| Ints5 |
T |
C |
19: 8,872,136 (GRCm39) |
S32P |
possibly damaging |
Het |
| Itgam |
T |
A |
7: 127,715,201 (GRCm39) |
S908R |
probably damaging |
Het |
| Kif20b |
C |
T |
19: 34,947,480 (GRCm39) |
P1565L |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,940,121 (GRCm39) |
E1610G |
probably damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Magoh |
T |
C |
4: 107,744,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Marchf6 |
G |
A |
15: 31,486,265 (GRCm39) |
S362F |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Moxd1 |
G |
T |
10: 24,177,429 (GRCm39) |
E582* |
probably null |
Het |
| Ncor2 |
A |
T |
5: 125,101,230 (GRCm39) |
L2195Q |
probably damaging |
Het |
| Neil1 |
A |
T |
9: 57,053,947 (GRCm39) |
D124E |
probably benign |
Het |
| Nhsl1 |
A |
T |
10: 18,400,916 (GRCm39) |
Q714L |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,373,076 (GRCm39) |
M1057L |
probably benign |
Het |
| Npas3 |
G |
A |
12: 54,114,508 (GRCm39) |
|
probably null |
Het |
| Oas1h |
C |
T |
5: 120,999,679 (GRCm39) |
Q55* |
probably null |
Het |
| Or2a5 |
T |
C |
6: 42,873,784 (GRCm39) |
V133A |
probably benign |
Het |
| Or2ag2b |
T |
A |
7: 106,417,571 (GRCm39) |
F94I |
probably damaging |
Het |
| Or52h9 |
C |
A |
7: 104,202,295 (GRCm39) |
H56Q |
probably benign |
Het |
| Or5p61 |
T |
C |
7: 107,759,029 (GRCm39) |
E17G |
probably benign |
Het |
| Or7d9 |
A |
T |
9: 20,197,523 (GRCm39) |
H176L |
probably benign |
Het |
| Phactr2 |
C |
A |
10: 13,137,645 (GRCm39) |
E166* |
probably null |
Het |
| Prkdc |
C |
T |
16: 15,482,222 (GRCm39) |
L422F |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,499,971 (GRCm39) |
V1051A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,306 (GRCm39) |
S828P |
possibly damaging |
Het |
| Rtn3 |
T |
G |
19: 7,409,355 (GRCm39) |
N888H |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,838,101 (GRCm39) |
|
probably null |
Het |
| Slc7a11 |
T |
A |
3: 50,338,588 (GRCm39) |
M274L |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,360,979 (GRCm39) |
N825S |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,262,421 (GRCm39) |
D610V |
probably benign |
Het |
| Tmed11 |
C |
T |
5: 108,927,705 (GRCm39) |
V110M |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,673,254 (GRCm39) |
D3G |
possibly damaging |
Het |
| Trp53rkb |
C |
T |
2: 166,636,009 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
A |
G |
6: 34,882,522 (GRCm39) |
L209P |
probably damaging |
Het |
| Zfp511 |
T |
A |
7: 139,616,504 (GRCm39) |
D46E |
probably benign |
Het |
| Zfp804a |
C |
A |
2: 82,089,761 (GRCm39) |
Q1197K |
probably damaging |
Het |
|
| Other mutations in Rad21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Rad21
|
APN |
15 |
51,839,521 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01328:Rad21
|
APN |
15 |
51,836,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Rad21
|
UTSW |
15 |
51,836,639 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0119:Rad21
|
UTSW |
15 |
51,828,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0299:Rad21
|
UTSW |
15 |
51,828,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0385:Rad21
|
UTSW |
15 |
51,837,259 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0440:Rad21
|
UTSW |
15 |
51,831,754 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1216:Rad21
|
UTSW |
15 |
51,833,532 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1631:Rad21
|
UTSW |
15 |
51,833,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Rad21
|
UTSW |
15 |
51,841,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Rad21
|
UTSW |
15 |
51,835,703 (GRCm39) |
missense |
probably benign |
|
|
R2377:Rad21
|
UTSW |
15 |
51,831,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2761:Rad21
|
UTSW |
15 |
51,846,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3853:Rad21
|
UTSW |
15 |
51,835,712 (GRCm39) |
missense |
probably benign |
|
|
R3875:Rad21
|
UTSW |
15 |
51,833,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4618:Rad21
|
UTSW |
15 |
51,833,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Rad21
|
UTSW |
15 |
51,831,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Rad21
|
UTSW |
15 |
51,831,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Rad21
|
UTSW |
15 |
51,830,102 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5057:Rad21
|
UTSW |
15 |
51,830,102 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7288:Rad21
|
UTSW |
15 |
51,845,976 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7840:Rad21
|
UTSW |
15 |
51,836,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Rad21
|
UTSW |
15 |
51,828,422 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8033:Rad21
|
UTSW |
15 |
51,827,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Rad21
|
UTSW |
15 |
51,831,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9176:Rad21
|
UTSW |
15 |
51,841,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Rad21
|
UTSW |
15 |
51,846,022 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Rad21
|
UTSW |
15 |
51,841,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGCTTGACACTTCATGTATG -3'
(R):5'- CAGTGTTTGCTTACAAGAGCTATCC -3'
Sequencing Primer
(F):5'- ACACTTCATGTATGTAACTAAGATGC -3'
(R):5'- ACAAGAGCTATCCTTTGTGGTCAGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation