Incidental Mutation 'R1127:Rd3l'
| ID |
96333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rd3l
|
| Ensembl Gene |
ENSMUSG00000091402 |
| Gene Name |
retinal degeneration 3-like |
| Synonyms |
|
| MMRRC Submission |
039200-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R1127 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111945625-111947751 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111946717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 20
(Y20H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140410
(fasta)
|
| 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 benign
Transcript: ENSMUST00000170525
AA Change: Y20H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000130014
Gene: ENSMUSG00000091402
AA Change: Y20H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
5 |
133 |
5.3e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185354
AA Change: Y20H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000140987
Gene: ENSMUSG00000091402
AA Change: Y20H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
4 |
100 |
2.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189759
AA Change: Y20H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000140454
Gene: ENSMUSG00000091402
AA Change: Y20H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
4 |
135 |
2.4e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190536
AA Change: Y20H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000140410
Gene: ENSMUSG00000091402
AA Change: Y20H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RD3
|
4 |
135 |
2.4e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190680
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
| Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
| Aplf |
T |
C |
6: 87,623,273 (GRCm39) |
T269A |
probably benign |
Het |
| Cavin4 |
T |
C |
4: 48,663,637 (GRCm39) |
S6P |
probably damaging |
Het |
| Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
| Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
| Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,759,127 (GRCm39) |
S41P |
possibly damaging |
Het |
| Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
| Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
| Fam110b |
T |
A |
4: 5,799,434 (GRCm39) |
L284Q |
probably damaging |
Het |
| Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
| Igfals |
T |
G |
17: 25,099,455 (GRCm39) |
L182R |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nxn |
A |
T |
11: 76,164,895 (GRCm39) |
C205* |
probably null |
Het |
| Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
| Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
| Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
| Pamr1 |
A |
T |
2: 102,469,698 (GRCm39) |
I415F |
possibly damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
| Pramel29 |
G |
A |
4: 143,933,694 (GRCm39) |
T471I |
probably damaging |
Het |
| Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
| Pus7 |
G |
A |
5: 23,973,793 (GRCm39) |
H234Y |
probably benign |
Het |
| Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
| Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
| Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
| Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
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 |
|
R0907:Rd3l
|
UTSW |
12 |
111,946,574 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGAACGGTTCCAGCTTGACAAGG -3'
(R):5'- ACTTGGGCAAACTCTGGCAACAC -3'
Sequencing Primer
(F):5'- GTACTTGTGAGCACAGAACTTCC -3'
(R):5'- CTGTGGACAGCACTTTTCAAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation