Incidental Mutation 'R6910:R3hcc1'
ID |
538989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hcc1
|
Ensembl Gene |
ENSMUSG00000034194 |
Gene Name |
R3H domain and coiled-coil containing 1 |
Synonyms |
1700020M16Rik |
MMRRC Submission |
045002-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R6910 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
69934756-69945033 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 69935024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 454
(P454L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022660]
[ENSMUST00000100420]
[ENSMUST00000118374]
[ENSMUST00000121142]
[ENSMUST00000216152]
|
AlphaFold |
Q8BSI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022660
|
SMART Domains |
Protein: ENSMUSP00000022660 Gene: ENSMUSG00000034205
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SR
|
61 |
162 |
4.4e-53 |
SMART |
SR
|
189 |
305 |
8.41e-18 |
SMART |
SR
|
329 |
428 |
2.29e-51 |
SMART |
SR
|
438 |
546 |
4.6e-33 |
SMART |
Pfam:Lysyl_oxidase
|
550 |
753 |
1.9e-107 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100420
|
SMART Domains |
Protein: ENSMUSP00000097987 Gene: ENSMUSG00000034205
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SR
|
61 |
162 |
4.4e-53 |
SMART |
SR
|
189 |
305 |
8.41e-18 |
SMART |
SR
|
329 |
428 |
2.29e-51 |
SMART |
SR
|
438 |
546 |
4.6e-33 |
SMART |
Pfam:Lysyl_oxidase
|
550 |
750 |
1.1e-102 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118374
AA Change: P454L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113450 Gene: ENSMUSG00000034194 AA Change: P454L
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: P454L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113898 Gene: ENSMUSG00000034194 AA Change: P454L
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: ENSMUST00000216152
AA Change: P454L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.7561 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cfap54 |
A |
G |
10: 92,672,374 (GRCm39) |
S2899P |
probably benign |
Het |
Chil5 |
A |
G |
3: 105,926,977 (GRCm39) |
W82R |
probably damaging |
Het |
Dennd3 |
A |
G |
15: 73,426,965 (GRCm39) |
T781A |
probably benign |
Het |
Epha2 |
A |
G |
4: 141,048,824 (GRCm39) |
D597G |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,744,597 (GRCm39) |
T1598A |
probably benign |
Het |
Glp2r |
A |
G |
11: 67,621,497 (GRCm39) |
F162S |
probably benign |
Het |
Gm17655 |
T |
A |
5: 110,195,039 (GRCm39) |
R248* |
probably null |
Het |
Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Hapln2 |
A |
G |
3: 87,931,135 (GRCm39) |
Y127H |
probably damaging |
Het |
Hdac4 |
G |
T |
1: 91,909,875 (GRCm39) |
T463K |
probably damaging |
Het |
Ift80 |
A |
C |
3: 68,835,068 (GRCm39) |
S458A |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,098,459 (GRCm39) |
D1846G |
possibly damaging |
Het |
Map3k8 |
A |
G |
18: 4,340,801 (GRCm39) |
I171T |
probably benign |
Het |
Micu1 |
A |
G |
10: 59,576,489 (GRCm39) |
E115G |
probably damaging |
Het |
Mrpl39 |
A |
G |
16: 84,532,080 (GRCm39) |
V9A |
unknown |
Het |
Ncoa7 |
T |
G |
10: 30,570,117 (GRCm39) |
I281L |
possibly damaging |
Het |
Nms |
A |
G |
1: 38,980,976 (GRCm39) |
E54G |
probably benign |
Het |
Nrip1 |
G |
A |
16: 76,091,305 (GRCm39) |
A84V |
probably damaging |
Het |
Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
Or11g27 |
G |
A |
14: 50,771,330 (GRCm39) |
V154M |
probably benign |
Het |
Pcdhga10 |
T |
A |
18: 37,881,285 (GRCm39) |
S349T |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Ryr3 |
T |
C |
2: 112,788,520 (GRCm39) |
D170G |
probably damaging |
Het |
Sanbr |
A |
G |
11: 23,570,447 (GRCm39) |
V151A |
probably damaging |
Het |
Scp2 |
C |
A |
4: 107,962,283 (GRCm39) |
G81C |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,844,695 (GRCm39) |
T173A |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 4,998,887 (GRCm39) |
H8142R |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,772,272 (GRCm39) |
T520A |
probably damaging |
Het |
Tpm1 |
A |
G |
9: 66,939,256 (GRCm39) |
S170P |
probably damaging |
Het |
Try5 |
T |
C |
6: 41,288,733 (GRCm39) |
D54G |
possibly damaging |
Het |
Vmn2r-ps158 |
T |
C |
7: 42,673,475 (GRCm39) |
F178L |
probably benign |
Het |
Zan |
T |
C |
5: 137,417,342 (GRCm39) |
E3041G |
unknown |
Het |
Zfp1001 |
A |
T |
2: 150,165,987 (GRCm39) |
Q56L |
probably benign |
Het |
Zfp616 |
A |
T |
11: 73,975,828 (GRCm39) |
H699L |
probably damaging |
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 |
R4041:R3hcc1
|
UTSW |
14 |
69,944,111 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
PCR Primer
(F):5'- AACTAAAGCCTGCTGTGCC -3'
(R):5'- GAAATATGGGCCTGGAGTCCTC -3'
Sequencing Primer
(F):5'- TAAAGCCTGCTGTGCCCCATAG -3'
(R):5'- TCCTGGACCCCTCTCACAAG -3'
|
Posted On |
2018-11-06 |