Incidental Mutation 'R2377:Rad21'
ID |
248328 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad21
|
Ensembl Gene |
ENSMUSG00000022314 |
Gene Name |
RAD21 cohesin complex component |
Synonyms |
SCC1 |
MMRRC Submission |
040354-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2377 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
51825636-51855143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51831834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 416
(F416L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022927]
|
AlphaFold |
Q61550 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022927
AA Change: F416L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022927 Gene: ENSMUSG00000022314 AA Change: F416L
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
G |
16: 14,285,787 (GRCm39) |
D1304G |
probably damaging |
Het |
Adamts10 |
C |
A |
17: 33,747,866 (GRCm39) |
H101N |
probably damaging |
Het |
Apaf1 |
T |
A |
10: 90,915,755 (GRCm39) |
K44N |
possibly damaging |
Het |
Aqr |
A |
T |
2: 113,971,421 (GRCm39) |
N471K |
possibly damaging |
Het |
Blvrb |
T |
A |
7: 27,159,024 (GRCm39) |
I94N |
probably damaging |
Het |
Ccdc38 |
C |
T |
10: 93,409,897 (GRCm39) |
P239S |
probably damaging |
Het |
Chst4 |
T |
A |
8: 110,756,804 (GRCm39) |
Y270F |
possibly damaging |
Het |
Col5a1 |
T |
C |
2: 27,818,189 (GRCm39) |
F138S |
unknown |
Het |
Dhx32 |
G |
T |
7: 133,326,207 (GRCm39) |
H407N |
probably damaging |
Het |
Dock3 |
G |
A |
9: 106,773,090 (GRCm39) |
P388S |
probably damaging |
Het |
Fbxo10 |
A |
C |
4: 45,044,719 (GRCm39) |
Y639D |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,806,593 (GRCm39) |
T971A |
probably benign |
Het |
Gli2 |
C |
T |
1: 118,764,855 (GRCm39) |
A1099T |
possibly damaging |
Het |
Hr |
C |
T |
14: 70,795,318 (GRCm39) |
L317F |
probably damaging |
Het |
Ice1 |
G |
A |
13: 70,750,899 (GRCm39) |
A1729V |
probably damaging |
Het |
Mcc |
C |
G |
18: 44,652,616 (GRCm39) |
K269N |
probably damaging |
Het |
Miga2 |
T |
A |
2: 30,274,002 (GRCm39) |
C83* |
probably null |
Het |
Msl1 |
A |
G |
11: 98,694,789 (GRCm39) |
R273G |
probably damaging |
Het |
Msl3l2 |
T |
C |
10: 55,991,659 (GRCm39) |
I128T |
probably damaging |
Het |
Ntrk1 |
T |
A |
3: 87,698,714 (GRCm39) |
D109V |
possibly damaging |
Het |
Or14j5 |
A |
G |
17: 38,161,498 (GRCm39) |
N5S |
probably damaging |
Het |
Or4b13 |
A |
G |
2: 90,083,255 (GRCm39) |
F26L |
probably damaging |
Het |
Or4f14b |
A |
T |
2: 111,774,988 (GRCm39) |
L271Q |
probably damaging |
Het |
Or5b97 |
T |
A |
19: 12,878,217 (GRCm39) |
Y309F |
possibly damaging |
Het |
Pcmtd2 |
A |
G |
2: 181,497,072 (GRCm39) |
|
probably benign |
Het |
Polr1a |
T |
C |
6: 71,949,810 (GRCm39) |
|
probably null |
Het |
Ptk2b |
T |
A |
14: 66,409,997 (GRCm39) |
I452F |
possibly damaging |
Het |
Scn5a |
A |
T |
9: 119,368,793 (GRCm39) |
I244N |
probably damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Tnpo3 |
A |
C |
6: 29,579,618 (GRCm39) |
N258K |
probably benign |
Het |
Uba6 |
T |
C |
5: 86,272,229 (GRCm39) |
D789G |
possibly damaging |
Het |
Vmn1r226 |
T |
G |
17: 20,907,992 (GRCm39) |
L75V |
probably benign |
Het |
Zfp729b |
A |
C |
13: 67,739,820 (GRCm39) |
V815G |
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 |
|
R2761:Rad21
|
UTSW |
15 |
51,846,039 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GATCCATGCACTTCCATGCC -3'
(R):5'- TTAGTGCTTAGGAACTGAACTGC -3'
Sequencing Primer
(F):5'- TGCACTTCCATGCCTCCAAAC -3'
(R):5'- TGAACTGCAGCGTTCCTCG -3'
|
Posted On |
2014-11-11 |