Incidental Mutation 'R3037:Rad21l'
| ID |
264835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad21l
|
| Ensembl Gene |
ENSMUSG00000074704 |
| Gene Name |
RAD21-like (S. pombe) |
| Synonyms |
Gm14160 |
| MMRRC Submission |
040553-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3037 (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 151502700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 170
(F170Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096439]
[ENSMUST00000180195]
|
| AlphaFold |
A2AU37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096439
AA Change: F170Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000094174
Gene: ENSMUSG00000074704
AA Change: F170Y
| 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: F170Y
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136918
Gene: ENSMUSG00000074704
AA Change: F170Y
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,582,486 (GRCm39) |
|
probably null |
Het |
| Bco1 |
A |
G |
8: 117,854,278 (GRCm39) |
Y401C |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,979,380 (GRCm39) |
S645T |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,298,122 (GRCm39) |
Y274H |
probably benign |
Het |
| Cdh19 |
C |
A |
1: 110,882,337 (GRCm39) |
V52F |
probably damaging |
Het |
| Cntnap2 |
G |
A |
6: 45,992,200 (GRCm39) |
V376I |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,998,542 (GRCm39) |
L141P |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,517,109 (GRCm39) |
N280K |
probably benign |
Het |
| Fam186a |
G |
T |
15: 99,841,675 (GRCm39) |
P1523Q |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,127 (GRCm39) |
I1352V |
possibly damaging |
Het |
| Fcsk |
A |
T |
8: 111,621,350 (GRCm39) |
|
probably null |
Het |
| Gng11 |
A |
G |
6: 4,008,051 (GRCm39) |
E38G |
probably benign |
Het |
| Gsdmc2 |
A |
T |
15: 63,705,180 (GRCm39) |
F178I |
probably benign |
Het |
| Il11ra1 |
T |
A |
4: 41,765,074 (GRCm39) |
S133R |
possibly damaging |
Het |
| Kcnab2 |
T |
A |
4: 152,478,213 (GRCm39) |
I349F |
possibly damaging |
Het |
| Kctd10 |
A |
G |
5: 114,513,061 (GRCm39) |
V38A |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,845,901 (GRCm39) |
R777G |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,291,457 (GRCm39) |
D1160E |
probably benign |
Het |
| Nanog |
C |
A |
6: 122,690,227 (GRCm39) |
Q186K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,770,272 (GRCm39) |
N249S |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,866,632 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k41 |
A |
T |
2: 86,313,987 (GRCm39) |
I33N |
probably damaging |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,166 (GRCm39) |
M39R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,261,779 (GRCm39) |
D291E |
probably benign |
Het |
| Pdia6 |
C |
T |
12: 17,329,646 (GRCm39) |
R261W |
probably damaging |
Het |
| Pdlim4 |
C |
A |
11: 53,947,083 (GRCm39) |
G72V |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,766,328 (GRCm39) |
D2104N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,474 (GRCm39) |
L7P |
probably damaging |
Het |
| Scaf1 |
T |
C |
7: 44,656,771 (GRCm39) |
|
probably benign |
Het |
| Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Tspan5 |
G |
A |
3: 138,604,116 (GRCm39) |
G167D |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,634,597 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,999,522 (GRCm39) |
W220L |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,191 (GRCm39) |
I146L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,355 (GRCm39) |
F501L |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,155,410 (GRCm39) |
D241G |
unknown |
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 |
|
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 |
PCR Primer
(F):5'- TTGGCCTACAAGCACAGAC -3'
(R):5'- ATCAAGTCTATGTTGATTAGCTGGG -3'
Sequencing Primer
(F):5'- TGGCCTACAAGCACAGACATGTATC -3'
(R):5'- GCTGGGTGTCTTCTATTAGATAATTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation