Incidental Mutation 'R0907:Rd3l'
| ID |
83367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rd3l
|
| Ensembl Gene |
ENSMUSG00000091402 |
| Gene Name |
retinal degeneration 3-like |
| Synonyms |
|
| MMRRC Submission |
039065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R0907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111945625-111947751 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 111946574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1
(Y1*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
[ENSMUST00000170525]
[ENSMUST00000185354]
[ENSMUST00000189759]
[ENSMUST00000190536]
|
| AlphaFold |
B2RV38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079009
|
| SMART Domains |
Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
DEXDc
|
132 |
327 |
5.64e-21 |
SMART |
|
HELICc
|
404 |
502 |
3.22e-16 |
SMART |
|
low complexity region
|
547 |
561 |
N/A |
INTRINSIC |
|
HA2
|
565 |
666 |
1.9e-20 |
SMART |
|
TUDOR
|
944 |
1003 |
1.52e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170525
AA Change: Y67*
|
| SMART Domains |
Protein: ENSMUSP00000130014
Gene: ENSMUSG00000091402
AA Change: Y67*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
5 |
133 |
5.3e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185354
AA Change: Y67*
|
| SMART Domains |
Protein: ENSMUSP00000140987
Gene: ENSMUSG00000091402
AA Change: Y67*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
4 |
100 |
2.9e-34 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189759
AA Change: Y67*
|
| SMART Domains |
Protein: ENSMUSP00000140454
Gene: ENSMUSG00000091402
AA Change: Y67*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
4 |
135 |
2.4e-51 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190536
AA Change: Y67*
|
| SMART Domains |
Protein: ENSMUSP00000140410
Gene: ENSMUSG00000091402
AA Change: Y67*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
4 |
135 |
2.4e-51 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190680
AA Change: Y1*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
G |
A |
1: 156,457,429 (GRCm39) |
V225M |
probably damaging |
Het |
| Afmid |
T |
A |
11: 117,726,416 (GRCm39) |
|
probably benign |
Het |
| Ccdc191 |
G |
A |
16: 43,735,901 (GRCm39) |
V216I |
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,461,258 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,137,910 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dop1b |
A |
T |
16: 93,598,481 (GRCm39) |
H1882L |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,635 (GRCm39) |
I2894V |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gm45713 |
G |
A |
7: 44,781,788 (GRCm39) |
T203M |
possibly damaging |
Het |
| Gstm1 |
T |
C |
3: 107,924,696 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Herc1 |
C |
A |
9: 66,340,710 (GRCm39) |
F1686L |
possibly damaging |
Het |
| Iffo1 |
A |
G |
6: 125,130,124 (GRCm39) |
E270G |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,902,718 (GRCm39) |
Y522N |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,484,488 (GRCm39) |
D378E |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,950,103 (GRCm39) |
N351S |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,285,945 (GRCm39) |
L301Q |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,805,220 (GRCm39) |
D180G |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,721,553 (GRCm39) |
K1082E |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Qdpr |
G |
C |
5: 45,596,728 (GRCm39) |
I145M |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Sf3b3 |
A |
G |
8: 111,538,142 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
C |
T |
13: 100,264,404 (GRCm39) |
T45I |
probably damaging |
Het |
| Sprr3 |
A |
T |
3: 92,364,316 (GRCm39) |
I176N |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,224,763 (GRCm39) |
D182G |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,647,316 (GRCm39) |
V397D |
probably damaging |
Het |
| Trpt1 |
G |
T |
19: 6,976,308 (GRCm39) |
G235V |
possibly damaging |
Het |
| Ttll10 |
A |
T |
4: 156,120,621 (GRCm39) |
C367* |
probably null |
Het |
| Unc5c |
A |
G |
3: 141,494,794 (GRCm39) |
Q369R |
probably damaging |
Het |
|
| Other mutations in Rd3l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02186:Rd3l
|
APN |
12 |
111,945,901 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02928:Rd3l
|
APN |
12 |
111,946,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0675:Rd3l
|
UTSW |
12 |
111,946,596 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1127:Rd3l
|
UTSW |
12 |
111,946,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4066:Rd3l
|
UTSW |
12 |
111,945,945 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4067:Rd3l
|
UTSW |
12 |
111,945,945 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4439:Rd3l
|
UTSW |
12 |
111,946,092 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4959:Rd3l
|
UTSW |
12 |
111,946,578 (GRCm39) |
splice site |
probably null |
|
|
R7465:Rd3l
|
UTSW |
12 |
111,945,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Rd3l
|
UTSW |
12 |
111,946,584 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8101:Rd3l
|
UTSW |
12 |
111,946,486 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8154:Rd3l
|
UTSW |
12 |
111,946,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8977:Rd3l
|
UTSW |
12 |
111,946,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Rd3l
|
UTSW |
12 |
111,946,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9656:Rd3l
|
UTSW |
12 |
111,946,614 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9664:Rd3l
|
UTSW |
12 |
111,945,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGCTTTTAGTCTGAATCTCACAC -3'
(R):5'- GGACAGCACTTTTCAAGTTGGTGATG -3'
Sequencing Primer
(F):5'- TTTAGTCTGAATCTCACACACCAC -3'
(R):5'- GACCTGCATGTTTTACCAGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation