Incidental Mutation 'R5530:Rad21l'
ID |
433621 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad21l
|
Ensembl Gene |
ENSMUSG00000074704 |
Gene Name |
RAD21-like (S. pombe) |
Synonyms |
Gm14160 |
MMRRC Submission |
043088-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5530 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
151487324-151510453 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 151499430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 257
(I257K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136918
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096439]
[ENSMUST00000180195]
|
AlphaFold |
A2AU37 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096439
AA Change: I254K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000094174 Gene: ENSMUSG00000074704 AA Change: I254K
Domain | Start | End | E-Value | Type |
Pfam:Rad21_Rec8_N
|
1 |
111 |
3.9e-43 |
PFAM |
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
low complexity region
|
275 |
299 |
N/A |
INTRINSIC |
Pfam:Rad21_Rec8
|
493 |
546 |
1.1e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180195
AA Change: I257K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000136918 Gene: ENSMUSG00000074704 AA Change: I257K
Domain | Start | End | E-Value | Type |
Pfam:Rad21_Rec8_N
|
1 |
106 |
5.7e-40 |
PFAM |
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
low complexity region
|
278 |
302 |
N/A |
INTRINSIC |
Pfam:Rad21_Rec8
|
496 |
549 |
1.3e-19 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility and reduced female fertility associated with abnormal meiosis and synaptonemal complex. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
A |
G |
1: 75,154,556 (GRCm39) |
|
probably benign |
Het |
Anapc2 |
A |
G |
2: 25,174,595 (GRCm39) |
K653E |
possibly damaging |
Het |
Aplp1 |
T |
C |
7: 30,136,254 (GRCm39) |
S508G |
possibly damaging |
Het |
Bend3 |
T |
A |
10: 43,387,722 (GRCm39) |
V705D |
probably damaging |
Het |
Btaf1 |
C |
A |
19: 36,968,175 (GRCm39) |
A1120E |
possibly damaging |
Het |
Carmil3 |
T |
C |
14: 55,731,081 (GRCm39) |
V116A |
probably damaging |
Het |
Cdk5rap3 |
A |
T |
11: 96,802,459 (GRCm39) |
Y238* |
probably null |
Het |
Cep170 |
T |
C |
1: 176,597,076 (GRCm39) |
H427R |
probably benign |
Het |
Cubn |
G |
A |
2: 13,313,334 (GRCm39) |
R3079W |
probably damaging |
Het |
Edc4 |
G |
T |
8: 106,615,886 (GRCm39) |
E694* |
probably null |
Het |
Entrep1 |
T |
A |
19: 23,952,958 (GRCm39) |
T451S |
probably benign |
Het |
Epb41l4b |
A |
G |
4: 57,086,003 (GRCm39) |
S191P |
probably damaging |
Het |
Fbxo46 |
T |
C |
7: 18,870,727 (GRCm39) |
Y449H |
probably damaging |
Het |
Ficd |
C |
A |
5: 113,876,986 (GRCm39) |
P387Q |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,710,721 (GRCm39) |
T942A |
probably benign |
Het |
Hoxb1 |
G |
C |
11: 96,257,754 (GRCm39) |
R228P |
probably damaging |
Het |
Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
Kcnj2 |
T |
C |
11: 110,962,917 (GRCm39) |
F103S |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,845,836 (GRCm39) |
I402V |
probably benign |
Het |
Mtcl2 |
T |
A |
2: 156,862,262 (GRCm39) |
S1556C |
probably damaging |
Het |
Mvp |
A |
G |
7: 126,595,095 (GRCm39) |
V250A |
probably benign |
Het |
Myo1b |
T |
A |
1: 51,836,582 (GRCm39) |
N293I |
probably damaging |
Het |
Npy5r |
T |
A |
8: 67,133,512 (GRCm39) |
Y427F |
probably benign |
Het |
Nrdc |
C |
T |
4: 108,904,806 (GRCm39) |
T747M |
probably damaging |
Het |
Nrxn2 |
C |
T |
19: 6,548,397 (GRCm39) |
P30L |
possibly damaging |
Het |
Nt5dc3 |
T |
C |
10: 86,656,857 (GRCm39) |
F332S |
probably damaging |
Het |
Optc |
T |
G |
1: 133,832,828 (GRCm39) |
T91P |
probably benign |
Het |
Or14j10 |
A |
G |
17: 37,934,698 (GRCm39) |
I276T |
possibly damaging |
Het |
Or8b12c |
A |
G |
9: 37,716,103 (GRCm39) |
T299A |
probably benign |
Het |
Otud7b |
A |
T |
3: 96,048,799 (GRCm39) |
E92V |
probably damaging |
Het |
Pgap4 |
A |
G |
4: 49,586,226 (GRCm39) |
L314P |
probably benign |
Het |
Pla2g4d |
A |
G |
2: 120,100,036 (GRCm39) |
I677T |
probably benign |
Het |
Pot1a |
T |
C |
6: 25,778,893 (GRCm39) |
E67G |
probably damaging |
Het |
Ppil6 |
T |
C |
10: 41,383,494 (GRCm39) |
S257P |
probably damaging |
Het |
Ppp1r14a |
T |
C |
7: 28,988,791 (GRCm39) |
L11P |
probably benign |
Het |
Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
Pramel13 |
A |
T |
4: 144,119,232 (GRCm39) |
M445K |
probably benign |
Het |
Rbm11 |
A |
G |
16: 75,389,861 (GRCm39) |
D9G |
possibly damaging |
Het |
Rhbdf2 |
T |
C |
11: 116,491,488 (GRCm39) |
Y586C |
probably damaging |
Het |
Rxfp2 |
A |
T |
5: 149,980,275 (GRCm39) |
I276F |
probably damaging |
Het |
Sec14l4 |
A |
G |
11: 3,996,342 (GRCm39) |
*404W |
probably null |
Het |
Sec16a |
A |
G |
2: 26,329,264 (GRCm39) |
V917A |
probably benign |
Het |
Sec61a2 |
A |
T |
2: 5,887,461 (GRCm39) |
Y131* |
probably null |
Het |
Sspo |
A |
T |
6: 48,442,517 (GRCm39) |
Y2004F |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,783,026 (GRCm39) |
E674G |
probably benign |
Het |
Tmf1 |
A |
G |
6: 97,135,048 (GRCm39) |
S989P |
probably damaging |
Het |
Tshz1 |
T |
C |
18: 84,031,393 (GRCm39) |
D1005G |
probably damaging |
Het |
Wdr19 |
T |
C |
5: 65,385,562 (GRCm39) |
S555P |
probably benign |
Het |
Zdhhc24 |
T |
A |
19: 4,933,591 (GRCm39) |
|
probably null |
Het |
Zfp558 |
A |
G |
9: 18,367,669 (GRCm39) |
M373T |
probably benign |
Het |
|
Other mutations in Rad21l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00435:Rad21l
|
APN |
2 |
151,495,436 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00815:Rad21l
|
APN |
2 |
151,509,909 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00847:Rad21l
|
APN |
2 |
151,502,635 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01545:Rad21l
|
APN |
2 |
151,497,084 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02983:Rad21l
|
APN |
2 |
151,497,040 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03001:Rad21l
|
APN |
2 |
151,510,389 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Rad21l
|
UTSW |
2 |
151,496,567 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0219:Rad21l
|
UTSW |
2 |
151,496,508 (GRCm39) |
splice site |
probably benign |
|
R0382:Rad21l
|
UTSW |
2 |
151,487,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0413:Rad21l
|
UTSW |
2 |
151,493,851 (GRCm39) |
missense |
probably benign |
|
R0511:Rad21l
|
UTSW |
2 |
151,490,989 (GRCm39) |
splice site |
probably benign |
|
R1555:Rad21l
|
UTSW |
2 |
151,500,348 (GRCm39) |
missense |
probably benign |
0.03 |
R1606:Rad21l
|
UTSW |
2 |
151,496,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Rad21l
|
UTSW |
2 |
151,510,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R1951:Rad21l
|
UTSW |
2 |
151,497,179 (GRCm39) |
missense |
probably benign |
0.04 |
R1999:Rad21l
|
UTSW |
2 |
151,496,621 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2060:Rad21l
|
UTSW |
2 |
151,487,349 (GRCm39) |
missense |
probably benign |
0.21 |
R2068:Rad21l
|
UTSW |
2 |
151,509,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R3037:Rad21l
|
UTSW |
2 |
151,502,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R4805:Rad21l
|
UTSW |
2 |
151,509,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R5185:Rad21l
|
UTSW |
2 |
151,499,382 (GRCm39) |
missense |
probably benign |
0.01 |
R5388:Rad21l
|
UTSW |
2 |
151,495,403 (GRCm39) |
missense |
probably benign |
|
R5504:Rad21l
|
UTSW |
2 |
151,510,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R6113:Rad21l
|
UTSW |
2 |
151,499,398 (GRCm39) |
missense |
probably damaging |
0.98 |
R6233:Rad21l
|
UTSW |
2 |
151,495,462 (GRCm39) |
missense |
probably benign |
|
R7096:Rad21l
|
UTSW |
2 |
151,509,840 (GRCm39) |
missense |
probably benign |
0.31 |
R7337:Rad21l
|
UTSW |
2 |
151,500,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R7822:Rad21l
|
UTSW |
2 |
151,497,045 (GRCm39) |
missense |
probably benign |
|
R8315:Rad21l
|
UTSW |
2 |
151,497,160 (GRCm39) |
missense |
probably benign |
0.00 |
R8368:Rad21l
|
UTSW |
2 |
151,495,390 (GRCm39) |
missense |
probably benign |
|
R8673:Rad21l
|
UTSW |
2 |
151,502,718 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8698:Rad21l
|
UTSW |
2 |
151,487,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R8769:Rad21l
|
UTSW |
2 |
151,509,838 (GRCm39) |
missense |
probably benign |
0.05 |
R9308:Rad21l
|
UTSW |
2 |
151,491,049 (GRCm39) |
missense |
probably benign |
0.07 |
Z1088:Rad21l
|
UTSW |
2 |
151,509,939 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Rad21l
|
UTSW |
2 |
151,497,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTCTTCCCAGGGAAACTG -3'
(R):5'- AAATGTTGTAGGCCTCAGACC -3'
Sequencing Primer
(F):5'- GGAAACTGGATGCTGGGC -3'
(R):5'- AGGCCTCAGACCATTTATTACTGAGC -3'
|
Posted On |
2016-10-06 |