Incidental Mutation 'IGL00488:R3hcc1l'
| ID |
5657 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
R3hcc1l
|
| Ensembl Gene |
ENSMUSG00000025184 |
| Gene Name |
R3H domain and coiled-coil containing 1 like |
| Synonyms |
1700036B12Rik, D19Ertd386e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00488
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42507198-42580782 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42552391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 463
(I463V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026188]
[ENSMUST00000160107]
[ENSMUST00000160893]
|
| AlphaFold |
Q8BJM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026188
AA Change: I463V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184
AA Change: I463V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
163 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
706 |
N/A |
INTRINSIC |
|
coiled coil region
|
734 |
766 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160107
|
| SMART Domains |
Protein: ENSMUSP00000124036
Gene: ENSMUSG00000025184
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
154 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162829
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
A |
3: 151,248,478 (GRCm39) |
S717T |
probably damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,839,469 (GRCm39) |
D585G |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,063,190 (GRCm39) |
N2637K |
possibly damaging |
Het |
| Erg |
C |
A |
16: 95,170,848 (GRCm39) |
|
probably benign |
Het |
| Mak |
C |
T |
13: 41,209,165 (GRCm39) |
|
probably benign |
Het |
| Max |
T |
C |
12: 76,985,404 (GRCm39) |
S132G |
probably damaging |
Het |
| Nfam1 |
T |
C |
15: 82,907,185 (GRCm39) |
Y4C |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,593,711 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
G |
A |
1: 34,502,200 (GRCm39) |
R72K |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,999,332 (GRCm39) |
E480G |
possibly damaging |
Het |
| Rictor |
T |
A |
15: 6,816,071 (GRCm39) |
D1114E |
probably damaging |
Het |
| Sestd1 |
A |
G |
2: 77,042,796 (GRCm39) |
S253P |
possibly damaging |
Het |
| Slk |
C |
T |
19: 47,608,148 (GRCm39) |
T367I |
probably benign |
Het |
| Tasl |
T |
A |
X: 84,931,985 (GRCm39) |
Y184N |
possibly damaging |
Het |
| Tcirg1 |
T |
G |
19: 3,949,108 (GRCm39) |
I394L |
possibly damaging |
Het |
| Ubn1 |
T |
C |
16: 4,899,778 (GRCm39) |
S1097P |
probably benign |
Het |
| Ugt2b34 |
T |
A |
5: 87,040,818 (GRCm39) |
H368L |
probably damaging |
Het |
| Wdr20rt |
T |
C |
12: 65,272,744 (GRCm39) |
V69A |
possibly damaging |
Het |
| Wnt16 |
T |
C |
6: 22,291,012 (GRCm39) |
S147P |
probably damaging |
Het |
|
| Other mutations in R3hcc1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01731:R3hcc1l
|
APN |
19 |
42,551,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01921:R3hcc1l
|
APN |
19 |
42,552,220 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01933:R3hcc1l
|
APN |
19 |
42,551,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02047:R3hcc1l
|
APN |
19 |
42,552,258 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02658:R3hcc1l
|
APN |
19 |
42,551,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02952:R3hcc1l
|
APN |
19 |
42,552,433 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0233:R3hcc1l
|
UTSW |
19 |
42,571,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0233:R3hcc1l
|
UTSW |
19 |
42,571,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0254:R3hcc1l
|
UTSW |
19 |
42,551,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:R3hcc1l
|
UTSW |
19 |
42,564,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:R3hcc1l
|
UTSW |
19 |
42,550,995 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0727:R3hcc1l
|
UTSW |
19 |
42,564,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:R3hcc1l
|
UTSW |
19 |
42,552,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1061:R3hcc1l
|
UTSW |
19 |
42,571,865 (GRCm39) |
nonsense |
probably null |
|
|
R1570:R3hcc1l
|
UTSW |
19 |
42,570,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:R3hcc1l
|
UTSW |
19 |
42,552,046 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2378:R3hcc1l
|
UTSW |
19 |
42,551,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2696:R3hcc1l
|
UTSW |
19 |
42,552,427 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3051:R3hcc1l
|
UTSW |
19 |
42,551,064 (GRCm39) |
nonsense |
probably null |
|
|
R3053:R3hcc1l
|
UTSW |
19 |
42,551,064 (GRCm39) |
nonsense |
probably null |
|
|
R4471:R3hcc1l
|
UTSW |
19 |
42,571,259 (GRCm39) |
splice site |
probably benign |
|
|
R4643:R3hcc1l
|
UTSW |
19 |
42,551,239 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4772:R3hcc1l
|
UTSW |
19 |
42,571,996 (GRCm39) |
splice site |
probably benign |
|
|
R5524:R3hcc1l
|
UTSW |
19 |
42,552,307 (GRCm39) |
nonsense |
probably null |
|
|
R5976:R3hcc1l
|
UTSW |
19 |
42,551,789 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6965:R3hcc1l
|
UTSW |
19 |
42,551,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:R3hcc1l
|
UTSW |
19 |
42,570,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7158:R3hcc1l
|
UTSW |
19 |
42,571,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:R3hcc1l
|
UTSW |
19 |
42,571,979 (GRCm39) |
nonsense |
probably null |
|
|
R7447:R3hcc1l
|
UTSW |
19 |
42,551,101 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7792:R3hcc1l
|
UTSW |
19 |
42,552,403 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8222:R3hcc1l
|
UTSW |
19 |
42,564,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:R3hcc1l
|
UTSW |
19 |
42,552,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9204:R3hcc1l
|
UTSW |
19 |
42,552,301 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9514:R3hcc1l
|
UTSW |
19 |
42,507,203 (GRCm39) |
unclassified |
probably benign |
|
|
R9664:R3hcc1l
|
UTSW |
19 |
42,552,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0064:R3hcc1l
|
UTSW |
19 |
42,571,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation