Incidental Mutation 'IGL02952:R3hcc1l'
| ID |
364966 |
| 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 # |
IGL02952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42507198-42580782 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42552433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 477
(K477E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026188]
[ENSMUST00000160107]
[ENSMUST00000160893]
|
| AlphaFold |
Q8BJM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026188
AA Change: K477E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184
AA Change: K477E
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,654,984 (GRCm39) |
D1436V |
probably damaging |
Het |
| Abca7 |
G |
T |
10: 79,843,242 (GRCm39) |
R1239L |
probably damaging |
Het |
| Acp2 |
T |
C |
2: 91,038,788 (GRCm39) |
|
probably benign |
Het |
| Adamts4 |
A |
G |
1: 171,078,917 (GRCm39) |
N179S |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,581,755 (GRCm39) |
D4763G |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,882,844 (GRCm39) |
V633A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,338 (GRCm39) |
I342K |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,872,896 (GRCm39) |
S541P |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,450,299 (GRCm39) |
L462P |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,408,290 (GRCm39) |
Y546C |
probably damaging |
Het |
| Cep120 |
G |
T |
18: 53,816,300 (GRCm39) |
|
probably benign |
Het |
| Cetn2 |
T |
C |
X: 71,957,808 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
C |
T |
9: 57,609,993 (GRCm39) |
S469L |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,979,094 (GRCm39) |
T1766I |
probably benign |
Het |
| Doc2g |
G |
A |
19: 4,056,719 (GRCm39) |
G345D |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,760,902 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
A |
9: 86,414,975 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
C |
A |
17: 71,587,816 (GRCm39) |
V99F |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,624,275 (GRCm39) |
S31P |
probably benign |
Het |
| Gask1b |
T |
C |
3: 79,793,646 (GRCm39) |
L38P |
probably damaging |
Het |
| Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
| Gm9742 |
T |
A |
13: 8,079,930 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr160 |
T |
C |
3: 30,950,443 (GRCm39) |
Y172H |
probably benign |
Het |
| Ifnk |
T |
A |
4: 35,152,495 (GRCm39) |
L141Q |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,223 (GRCm39) |
E308G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,715 (GRCm39) |
I450M |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,981,773 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or10ad1 |
T |
C |
15: 98,105,470 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,628,026 (GRCm39) |
T367S |
possibly damaging |
Het |
| Polg2 |
T |
C |
11: 106,663,539 (GRCm39) |
I385V |
possibly damaging |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,993,014 (GRCm39) |
S17P |
unknown |
Het |
| Prss22 |
C |
A |
17: 24,215,697 (GRCm39) |
C75F |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,141,253 (GRCm39) |
K567E |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,036,925 (GRCm39) |
I1141M |
probably damaging |
Het |
| Riok1 |
A |
G |
13: 38,232,866 (GRCm39) |
Y194C |
probably damaging |
Het |
| Smr2 |
T |
A |
5: 88,236,095 (GRCm39) |
C16S |
possibly damaging |
Het |
| Stk25 |
A |
T |
1: 93,553,798 (GRCm39) |
I187N |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,478 (GRCm39) |
E243G |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,186,256 (GRCm39) |
E143G |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation