Incidental Mutation 'R1555:Rad21l'
ID |
170209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad21l
|
Ensembl Gene |
ENSMUSG00000074704 |
Gene Name |
RAD21-like (S. pombe) |
Synonyms |
Gm14160 |
MMRRC Submission |
039594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1555 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
151487324-151510453 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 151500348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 224
(T224S)
|
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: T224S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000094174 Gene: ENSMUSG00000074704 AA Change: T224S
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: T224S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000136918 Gene: ENSMUSG00000074704 AA Change: T224S
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
96% (43/45) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,865,727 (GRCm39) |
|
probably null |
Het |
Adamts1 |
T |
A |
16: 85,594,776 (GRCm39) |
T358S |
probably benign |
Het |
Ate1 |
A |
T |
7: 130,110,821 (GRCm39) |
F169I |
probably benign |
Het |
Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
Clcnkb |
T |
C |
4: 141,139,050 (GRCm39) |
|
probably null |
Het |
Col6a4 |
C |
T |
9: 105,878,085 (GRCm39) |
R1964Q |
possibly damaging |
Het |
Dcakd |
C |
T |
11: 102,891,039 (GRCm39) |
V17I |
probably damaging |
Het |
Dcdc5 |
T |
G |
2: 106,214,480 (GRCm39) |
|
noncoding transcript |
Het |
Erc2 |
T |
A |
14: 27,733,622 (GRCm39) |
D557E |
probably damaging |
Het |
Grid2 |
A |
T |
6: 64,406,668 (GRCm39) |
D676V |
possibly damaging |
Het |
Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
Igkv10-96 |
C |
T |
6: 68,609,365 (GRCm39) |
|
probably benign |
Het |
Mier3 |
T |
A |
13: 111,844,893 (GRCm39) |
N248K |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,702,853 (GRCm39) |
I15F |
probably damaging |
Het |
Neurl3 |
A |
G |
1: 36,305,613 (GRCm39) |
V198A |
probably benign |
Het |
Notch2 |
C |
A |
3: 98,038,656 (GRCm39) |
N1266K |
possibly damaging |
Het |
Nup107 |
A |
G |
10: 117,587,395 (GRCm39) |
|
probably benign |
Het |
Or52e8b |
T |
C |
7: 104,673,729 (GRCm39) |
I153V |
probably benign |
Het |
Or6d14 |
A |
T |
6: 116,533,787 (GRCm39) |
I134F |
probably damaging |
Het |
Phf3 |
G |
T |
1: 30,844,958 (GRCm39) |
H1334N |
possibly damaging |
Het |
Phyhd1 |
T |
A |
2: 30,164,718 (GRCm39) |
I100N |
probably damaging |
Het |
Rxra |
C |
T |
2: 27,638,690 (GRCm39) |
A231V |
probably benign |
Het |
Sac3d1 |
T |
C |
19: 6,168,435 (GRCm39) |
D61G |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,189,279 (GRCm39) |
Y481H |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,927,858 (GRCm39) |
E642G |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,006,315 (GRCm39) |
Y159C |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Tedc1 |
G |
T |
12: 113,120,117 (GRCm39) |
|
probably benign |
Het |
Tmem200a |
A |
T |
10: 25,869,782 (GRCm39) |
D162E |
probably damaging |
Het |
Tmprss11e |
T |
A |
5: 86,863,447 (GRCm39) |
Q206L |
probably damaging |
Het |
Tpra1 |
A |
G |
6: 88,887,185 (GRCm39) |
N175S |
probably damaging |
Het |
Ttll10 |
T |
C |
4: 156,119,596 (GRCm39) |
E601G |
probably benign |
Het |
Ttll6 |
G |
T |
11: 96,036,408 (GRCm39) |
D346Y |
probably damaging |
Het |
U2surp |
A |
G |
9: 95,348,630 (GRCm39) |
V874A |
probably damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,332,788 (GRCm39) |
K258R |
probably benign |
Het |
Xkr6 |
A |
G |
14: 64,056,374 (GRCm39) |
Y95C |
unknown |
Het |
Zfp180 |
T |
C |
7: 23,800,999 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
A |
G |
8: 107,150,727 (GRCm39) |
T147A |
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 |
|
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 |
R5530:Rad21l
|
UTSW |
2 |
151,499,430 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2014-04-13 |