Incidental Mutation 'R2761:Rad21'
| ID |
254068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad21
|
| Ensembl Gene |
ENSMUSG00000022314 |
| Gene Name |
RAD21 cohesin complex component |
| Synonyms |
SCC1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2761 (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 51846039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 10
(K10N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022927]
[ENSMUST00000226529]
|
| AlphaFold |
Q61550 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022927
AA Change: K10N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022927
Gene: ENSMUSG00000022314
AA Change: K10N
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226529
AA Change: K10N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,541 (GRCm39) |
V910A |
probably damaging |
Het |
| 1700123K08Rik |
T |
C |
5: 138,562,436 (GRCm39) |
T102A |
possibly damaging |
Het |
| Acoxl |
T |
C |
2: 127,719,733 (GRCm39) |
Y165H |
probably benign |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Cdh1 |
T |
A |
8: 107,380,481 (GRCm39) |
I208N |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,000 (GRCm39) |
I477V |
probably damaging |
Het |
| Cpa2 |
A |
G |
6: 30,554,193 (GRCm39) |
D271G |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,355,369 (GRCm39) |
M109V |
probably benign |
Het |
| Hdac3 |
A |
T |
18: 38,078,779 (GRCm39) |
S111T |
probably benign |
Het |
| Kremen1 |
GGG |
GGGTGG |
11: 5,151,792 (GRCm39) |
|
probably benign |
Het |
| Krt31 |
T |
C |
11: 99,938,691 (GRCm39) |
T301A |
probably benign |
Het |
| Snap47 |
T |
C |
11: 59,328,885 (GRCm39) |
D139G |
probably benign |
Het |
| Tango6 |
C |
A |
8: 107,425,664 (GRCm39) |
T408N |
possibly 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 |
|
R3116:Rad21
|
UTSW |
15 |
51,828,397 (GRCm39) |
missense |
probably null |
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'- GGGAAAATCCGAGACTCTCC -3'
(R):5'- TGCTTGCTGTACTTTCAGGC -3'
Sequencing Primer
(F):5'- TTTGGACACAGCCACCGTTG -3'
(R):5'- GCTGTACTTTCAGGCTCTTTATATTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation