Incidental Mutation 'IGL02983:Rad21l'
| ID |
406624 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rad21l
|
| Ensembl Gene |
ENSMUSG00000074704 |
| Gene Name |
RAD21-like (S. pombe) |
| Synonyms |
Gm14160 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
151487324-151510453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151497040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 358
(L358S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096439]
[ENSMUST00000180195]
|
| AlphaFold |
A2AU37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096439
AA Change: L355S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094174
Gene: ENSMUSG00000074704
AA Change: L355S
| 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 damaging
Transcript: ENSMUST00000180195
AA Change: L358S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136918
Gene: ENSMUSG00000074704
AA Change: L358S
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,240,663 (GRCm39) |
N842S |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,029,950 (GRCm39) |
I565V |
probably benign |
Het |
| Camta2 |
C |
T |
11: 70,562,848 (GRCm39) |
R959Q |
probably damaging |
Het |
| Cbln2 |
A |
G |
18: 86,731,504 (GRCm39) |
E104G |
probably benign |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,995 (GRCm39) |
K132R |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,117,442 (GRCm39) |
I452F |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,526 (GRCm39) |
|
probably null |
Het |
| Crat |
A |
C |
2: 30,294,538 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,197,750 (GRCm39) |
K227R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,273,863 (GRCm39) |
I588N |
probably damaging |
Het |
| Dip2b |
G |
T |
15: 100,029,903 (GRCm39) |
R98L |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,002,119 (GRCm39) |
P1617L |
probably damaging |
Het |
| Fa2h |
C |
T |
8: 112,073,154 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,247,871 (GRCm39) |
N68I |
probably damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,227 (GRCm39) |
L17F |
probably benign |
Het |
| Gm17078 |
T |
C |
14: 51,848,647 (GRCm39) |
K30R |
probably benign |
Het |
| Gramd4 |
G |
A |
15: 86,011,219 (GRCm39) |
V249M |
probably damaging |
Het |
| Kcnd2 |
A |
C |
6: 21,216,554 (GRCm39) |
D86A |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,386,068 (GRCm39) |
E3486G |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,646 (GRCm39) |
D50G |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,997 (GRCm39) |
Y167* |
probably null |
Het |
| Nat14 |
G |
A |
7: 4,927,127 (GRCm39) |
A100T |
probably damaging |
Het |
| Nscme3l |
A |
G |
19: 5,553,209 (GRCm39) |
F191L |
possibly damaging |
Het |
| Nxph2 |
T |
C |
2: 23,290,374 (GRCm39) |
V242A |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,649 (GRCm39) |
I287N |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,918,207 (GRCm39) |
V126A |
probably damaging |
Het |
| Or2a55-ps1 |
T |
C |
6: 43,071,582 (GRCm39) |
|
noncoding transcript |
Het |
| Or6c219 |
T |
A |
10: 129,781,058 (GRCm39) |
N291I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,099,697 (GRCm39) |
E356G |
probably benign |
Het |
| Rasgef1c |
A |
G |
11: 49,847,876 (GRCm39) |
T4A |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,508 (GRCm39) |
S207P |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,222,976 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,177,142 (GRCm39) |
T642A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,678,725 (GRCm39) |
M277K |
possibly damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,741 (GRCm39) |
D45G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,848 (GRCm39) |
I565V |
probably benign |
Het |
| Zfp526 |
C |
T |
7: 24,923,840 (GRCm39) |
A33V |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation