Incidental Mutation 'R1216:Rad21'
ID |
99679 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad21
|
Ensembl Gene |
ENSMUSG00000022314 |
Gene Name |
RAD21 cohesin complex component |
Synonyms |
SCC1 |
MMRRC Submission |
039285-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1216 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
51825636-51855143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51833532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 316
(T316A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022927]
[ENSMUST00000226529]
|
AlphaFold |
Q61550 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022927
AA Change: T316A
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000022927 Gene: ENSMUSG00000022314 AA Change: T316A
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 benign
Transcript: ENSMUST00000226529
|
Meta Mutation Damage Score |
0.0780 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
Validation Efficiency |
98% (45/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,868,716 (GRCm39) |
D332V |
probably damaging |
Het |
Akr1c12 |
T |
C |
13: 4,326,322 (GRCm39) |
Y53C |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,383,498 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,710,276 (GRCm39) |
|
probably benign |
Het |
B4galnt2 |
A |
G |
11: 95,782,767 (GRCm39) |
L15P |
probably benign |
Het |
Cadps2 |
A |
G |
6: 23,583,472 (GRCm39) |
|
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dppa4 |
T |
C |
16: 48,113,343 (GRCm39) |
F244S |
possibly damaging |
Het |
Exoc1 |
A |
G |
5: 76,702,035 (GRCm39) |
K445R |
probably benign |
Het |
Fam47e |
A |
G |
5: 92,710,343 (GRCm39) |
E114G |
probably damaging |
Het |
Fgf12 |
A |
T |
16: 27,981,202 (GRCm39) |
N171K |
possibly damaging |
Het |
Fyb2 |
G |
A |
4: 104,852,903 (GRCm39) |
V528M |
possibly damaging |
Het |
Ghr |
A |
G |
15: 3,349,337 (GRCm39) |
S614P |
probably damaging |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Gpr152 |
T |
A |
19: 4,193,554 (GRCm39) |
V365D |
possibly damaging |
Het |
Guca1a |
A |
G |
17: 47,706,637 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
G |
A |
13: 42,310,997 (GRCm39) |
G1079D |
probably benign |
Het |
Hnrnpm |
T |
C |
17: 33,868,687 (GRCm39) |
D580G |
probably damaging |
Het |
Ints6 |
A |
T |
14: 62,945,147 (GRCm39) |
D394E |
probably damaging |
Het |
Kat6b |
T |
A |
14: 21,672,108 (GRCm39) |
Y339* |
probably null |
Het |
Kcnj11 |
C |
A |
7: 45,749,285 (GRCm39) |
V13L |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,554,191 (GRCm39) |
|
probably benign |
Het |
Mtrex |
A |
G |
13: 113,050,876 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,709,473 (GRCm39) |
T161A |
probably benign |
Het |
Ncapg |
G |
T |
5: 45,857,261 (GRCm39) |
S991I |
possibly damaging |
Het |
Nrde2 |
G |
A |
12: 100,116,069 (GRCm39) |
|
probably benign |
Het |
Or4c127 |
T |
A |
2: 89,832,822 (GRCm39) |
I24N |
probably benign |
Het |
Or5d18 |
T |
C |
2: 87,864,602 (GRCm39) |
R294G |
probably damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,476,927 (GRCm39) |
T688S |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,190,635 (GRCm39) |
D309G |
probably benign |
Het |
Plod1 |
A |
T |
4: 148,005,584 (GRCm39) |
V404D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,266,447 (GRCm39) |
Y71* |
probably null |
Het |
Prcp |
A |
G |
7: 92,566,954 (GRCm39) |
N222S |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,319,034 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
C |
A |
2: 72,038,492 (GRCm39) |
P548T |
possibly damaging |
Het |
Ric1 |
G |
T |
19: 29,555,135 (GRCm39) |
M416I |
probably benign |
Het |
Slc9a8 |
T |
C |
2: 167,266,041 (GRCm39) |
F6S |
probably benign |
Het |
Smpdl3a |
T |
G |
10: 57,678,575 (GRCm39) |
I126S |
probably null |
Het |
Sphkap |
A |
T |
1: 83,268,698 (GRCm39) |
L98Q |
probably damaging |
Het |
Spink4 |
T |
G |
4: 40,924,974 (GRCm39) |
|
probably benign |
Het |
Taar5 |
A |
T |
10: 23,847,605 (GRCm39) |
L334F |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,203 (GRCm39) |
I454K |
probably benign |
Het |
Ttc7 |
C |
T |
17: 87,654,006 (GRCm39) |
T561M |
possibly damaging |
Het |
Vmn2r9 |
G |
T |
5: 108,995,440 (GRCm39) |
H403N |
probably damaging |
Het |
Zdbf2 |
G |
A |
1: 63,342,161 (GRCm39) |
C180Y |
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 |
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 |
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'- GAAGCCAGTGAGACTATTGAGCTGTG -3'
(R):5'- AAGAATGTCTGACAGGTGTGCTATGTG -3'
Sequencing Primer
(F):5'- GCACGTATCAGTTTGAGCAC -3'
(R):5'- ACAGGTGTGCTATGTGTATCATTTAC -3'
|
Posted On |
2014-01-15 |