Incidental Mutation 'IGL02047:R3hcc1l'
ID |
184974 |
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 # |
IGL02047
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
42507198-42580782 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 42552258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 418
(M418I)
|
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: M418I
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000026188 Gene: ENSMUSG00000025184 AA Change: M418I
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
G |
T |
6: 92,808,909 (GRCm39) |
|
probably benign |
Het |
Ank3 |
A |
G |
10: 69,728,324 (GRCm39) |
N681S |
possibly damaging |
Het |
Arpp19 |
T |
G |
9: 74,964,058 (GRCm39) |
S137A |
probably damaging |
Het |
Bmp2 |
T |
C |
2: 133,402,896 (GRCm39) |
L149P |
probably damaging |
Het |
Bpifb1 |
T |
C |
2: 154,044,536 (GRCm39) |
M1T |
probably null |
Het |
Btbd7 |
T |
C |
12: 102,760,038 (GRCm39) |
S637G |
probably benign |
Het |
Cyp51 |
T |
A |
5: 4,149,244 (GRCm39) |
H211L |
possibly damaging |
Het |
Cyth1 |
C |
A |
11: 118,059,958 (GRCm39) |
Q333H |
probably damaging |
Het |
Dennd5a |
G |
A |
7: 109,533,991 (GRCm39) |
T67M |
possibly damaging |
Het |
Dse |
A |
T |
10: 34,038,841 (GRCm39) |
Y51* |
probably null |
Het |
Dynlt3 |
A |
T |
X: 9,522,665 (GRCm39) |
Y76* |
probably null |
Het |
Fabp12 |
T |
C |
3: 10,312,778 (GRCm39) |
|
probably benign |
Het |
Galr1 |
A |
T |
18: 82,424,118 (GRCm39) |
L53Q |
probably damaging |
Het |
Igkv4-70 |
A |
T |
6: 69,244,911 (GRCm39) |
D103E |
probably damaging |
Het |
Il2 |
T |
C |
3: 37,180,000 (GRCm39) |
N19S |
probably benign |
Het |
Jhy |
T |
C |
9: 40,828,476 (GRCm39) |
I477V |
probably benign |
Het |
Kcnk4 |
A |
G |
19: 6,903,626 (GRCm39) |
S308P |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,534,562 (GRCm39) |
I299K |
probably benign |
Het |
Mark3 |
T |
A |
12: 111,584,797 (GRCm39) |
I131N |
probably damaging |
Het |
Msr1 |
A |
G |
8: 40,077,001 (GRCm39) |
V137A |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,316,361 (GRCm39) |
V482E |
probably benign |
Het |
Pcsk1 |
T |
C |
13: 75,246,108 (GRCm39) |
V162A |
probably benign |
Het |
Phf8-ps |
C |
T |
17: 33,286,275 (GRCm39) |
V176M |
probably damaging |
Het |
Plekhb1 |
A |
G |
7: 100,304,506 (GRCm39) |
V47A |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,220,882 (GRCm39) |
F438L |
probably damaging |
Het |
Slc38a5 |
G |
T |
X: 8,139,879 (GRCm39) |
V127L |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,233,834 (GRCm39) |
|
probably benign |
Het |
Tdh |
A |
T |
14: 63,734,407 (GRCm39) |
H80Q |
probably benign |
Het |
Tshz3 |
A |
C |
7: 36,469,893 (GRCm39) |
K627N |
probably damaging |
Het |
Usp28 |
C |
T |
9: 48,946,941 (GRCm39) |
P791S |
probably damaging |
Het |
Wdr81 |
A |
G |
11: 75,336,332 (GRCm39) |
Y1686H |
probably damaging |
Het |
Xpot |
G |
T |
10: 121,437,267 (GRCm39) |
|
probably benign |
Het |
Zfand4 |
G |
A |
6: 116,291,889 (GRCm39) |
G627R |
probably damaging |
Het |
|
Other mutations in R3hcc1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00488:R3hcc1l
|
APN |
19 |
42,552,391 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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 |
2014-05-07 |