Incidental Mutation 'R4041:R3hcc1'
| ID |
475356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hcc1
|
| Ensembl Gene |
ENSMUSG00000034194 |
| Gene Name |
R3H domain and coiled-coil containing 1 |
| Synonyms |
1700020M16Rik |
| MMRRC Submission |
040966-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4041 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
69934756-69945033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69944111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 45
(S45P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118374]
[ENSMUST00000121142]
[ENSMUST00000216152]
|
| AlphaFold |
Q8BSI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118374
AA Change: S45P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194
AA Change: S45P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
52 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121142
AA Change: S45P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194
AA Change: S45P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
52 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216152
AA Change: S45P
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf5 |
T |
C |
7: 44,462,921 (GRCm39) |
T68A |
possibly damaging |
Het |
| Cage1 |
A |
G |
13: 38,203,153 (GRCm39) |
L637P |
possibly damaging |
Het |
| Cfl1 |
T |
C |
19: 5,542,556 (GRCm39) |
I12T |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,286,902 (GRCm39) |
E653G |
probably damaging |
Het |
| Cntnap5a |
C |
A |
1: 116,112,129 (GRCm39) |
P473Q |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,120,655 (GRCm39) |
S91P |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,813,404 (GRCm39) |
Q2313R |
probably benign |
Het |
| Gpc5 |
A |
T |
14: 115,370,628 (GRCm39) |
Q151L |
probably damaging |
Het |
| Hexim1 |
A |
G |
11: 103,007,932 (GRCm39) |
E62G |
probably benign |
Het |
| Ifna13 |
A |
G |
4: 88,562,228 (GRCm39) |
F132S |
probably benign |
Het |
| Irgm2 |
A |
G |
11: 58,110,956 (GRCm39) |
M228V |
probably benign |
Het |
| Klhl41 |
A |
G |
2: 69,501,054 (GRCm39) |
M172V |
probably benign |
Het |
| Klk1 |
A |
T |
7: 43,878,986 (GRCm39) |
N260I |
probably damaging |
Het |
| Krit1 |
G |
C |
5: 3,859,642 (GRCm39) |
R110P |
probably damaging |
Het |
| Krt7 |
T |
A |
15: 101,321,161 (GRCm39) |
|
probably null |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,468 (GRCm39) |
Y149N |
probably damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,801,899 (GRCm39) |
C739F |
possibly damaging |
Het |
| Mbnl2 |
C |
T |
14: 120,626,486 (GRCm39) |
H239Y |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,942,357 (GRCm39) |
R4942* |
probably null |
Het |
| Or2bd2 |
T |
C |
7: 6,443,688 (GRCm39) |
L263P |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,785,356 (GRCm39) |
H1778Q |
possibly damaging |
Het |
| Scyl2 |
T |
A |
10: 89,485,914 (GRCm39) |
K558N |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,991,586 (GRCm39) |
V677M |
unknown |
Het |
| Slc39a5 |
T |
C |
10: 128,232,337 (GRCm39) |
M488V |
possibly damaging |
Het |
| Styk1 |
A |
T |
6: 131,289,880 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
T |
C |
1: 165,927,680 (GRCm39) |
D644G |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,908,565 (GRCm39) |
V1047A |
probably benign |
Het |
| Wnt3a |
G |
T |
11: 59,140,470 (GRCm39) |
H349N |
probably damaging |
Het |
| Zbtb39 |
T |
C |
10: 127,579,423 (GRCm39) |
C666R |
probably damaging |
Het |
| Zfp420 |
T |
C |
7: 29,575,427 (GRCm39) |
M549T |
probably benign |
Het |
|
| Other mutations in R3hcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:R3hcc1
|
APN |
14 |
69,937,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02089:R3hcc1
|
APN |
14 |
69,937,475 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3737:R3hcc1
|
UTSW |
14 |
69,935,042 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4512:R3hcc1
|
UTSW |
14 |
69,936,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5058:R3hcc1
|
UTSW |
14 |
69,941,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:R3hcc1
|
UTSW |
14 |
69,935,053 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5520:R3hcc1
|
UTSW |
14 |
69,936,057 (GRCm39) |
nonsense |
probably null |
|
|
R6910:R3hcc1
|
UTSW |
14 |
69,935,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:R3hcc1
|
UTSW |
14 |
69,941,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:R3hcc1
|
UTSW |
14 |
69,943,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7392:R3hcc1
|
UTSW |
14 |
69,943,329 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7792:R3hcc1
|
UTSW |
14 |
69,942,957 (GRCm39) |
missense |
probably benign |
|
|
R7975:R3hcc1
|
UTSW |
14 |
69,944,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:R3hcc1
|
UTSW |
14 |
69,942,890 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:R3hcc1
|
UTSW |
14 |
69,942,776 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation