Incidental Mutation 'IGL01731:R3hcc1l'
ID |
105499 |
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 # |
IGL01731
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
42507198-42580782 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42551240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 79
(V79A)
|
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: V79A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000026188 Gene: ENSMUSG00000025184 AA Change: V79A
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
AA Change: V79A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430093F15Rik |
T |
A |
19: 10,762,711 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
C |
11: 9,199,749 (GRCm39) |
|
probably benign |
Het |
Abcc6 |
G |
A |
7: 45,652,034 (GRCm39) |
P611L |
possibly damaging |
Het |
Acsl6 |
A |
G |
11: 54,241,385 (GRCm39) |
E547G |
probably benign |
Het |
Aldh1b1 |
T |
C |
4: 45,803,472 (GRCm39) |
F337L |
possibly damaging |
Het |
Alg1 |
C |
T |
16: 5,062,383 (GRCm39) |
R422C |
probably benign |
Het |
Ankrd23 |
A |
G |
1: 36,573,147 (GRCm39) |
L75S |
probably damaging |
Het |
Arid5b |
T |
C |
10: 67,933,439 (GRCm39) |
H578R |
probably damaging |
Het |
Atp10a |
G |
T |
7: 58,447,310 (GRCm39) |
W684L |
probably benign |
Het |
Bzw2 |
T |
C |
12: 36,157,647 (GRCm39) |
|
probably null |
Het |
C2cd2 |
A |
T |
16: 97,671,372 (GRCm39) |
I509K |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,868,057 (GRCm39) |
T864A |
possibly damaging |
Het |
Ces1f |
A |
G |
8: 93,993,948 (GRCm39) |
S278P |
possibly damaging |
Het |
Chd8 |
T |
C |
14: 52,450,111 (GRCm39) |
I208V |
probably benign |
Het |
Cstf2t |
T |
C |
19: 31,061,738 (GRCm39) |
S425P |
probably benign |
Het |
Cxcl1 |
A |
G |
5: 91,039,436 (GRCm39) |
T60A |
probably benign |
Het |
Diaph1 |
G |
T |
18: 37,986,762 (GRCm39) |
|
probably benign |
Het |
Dnai4 |
T |
C |
4: 102,919,632 (GRCm39) |
I139V |
probably benign |
Het |
Exoc3l |
T |
G |
8: 106,019,587 (GRCm39) |
K394T |
probably benign |
Het |
Fabp4 |
T |
C |
3: 10,270,293 (GRCm39) |
|
probably benign |
Het |
Fam234b |
T |
A |
6: 135,188,903 (GRCm39) |
F169L |
possibly damaging |
Het |
Hectd1 |
C |
A |
12: 51,849,593 (GRCm39) |
D204Y |
possibly damaging |
Het |
Hephl1 |
A |
T |
9: 14,981,066 (GRCm39) |
Y789N |
probably damaging |
Het |
Igfbp6 |
C |
A |
15: 102,053,252 (GRCm39) |
N90K |
probably benign |
Het |
Khdrbs1 |
A |
T |
4: 129,619,462 (GRCm39) |
D226E |
probably benign |
Het |
Lipo4 |
T |
A |
19: 33,490,013 (GRCm39) |
Q163L |
probably damaging |
Het |
Med13l |
T |
C |
5: 118,880,472 (GRCm39) |
I1188T |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,298,278 (GRCm39) |
E2252G |
probably benign |
Het |
Nepn |
G |
T |
10: 52,276,660 (GRCm39) |
R132L |
probably benign |
Het |
Nlrp9b |
T |
A |
7: 19,757,342 (GRCm39) |
L193* |
probably null |
Het |
Ntn1 |
A |
G |
11: 68,276,244 (GRCm39) |
S235P |
probably damaging |
Het |
Nup210l |
G |
T |
3: 90,061,873 (GRCm39) |
R684L |
probably damaging |
Het |
Obi1 |
T |
C |
14: 104,716,738 (GRCm39) |
D545G |
probably damaging |
Het |
Obp2b |
A |
G |
2: 25,629,293 (GRCm39) |
S154G |
possibly damaging |
Het |
Or10ag59 |
A |
G |
2: 87,406,282 (GRCm39) |
T285A |
probably benign |
Het |
Or4f57 |
A |
G |
2: 111,790,980 (GRCm39) |
V146A |
probably benign |
Het |
Or51b6b |
T |
A |
7: 103,310,053 (GRCm39) |
T135S |
probably benign |
Het |
Or5p1 |
A |
T |
7: 107,916,682 (GRCm39) |
I194F |
probably benign |
Het |
Polr3b |
A |
T |
10: 84,467,704 (GRCm39) |
R95* |
probably null |
Het |
Prelid2 |
C |
T |
18: 42,070,714 (GRCm39) |
V40M |
probably benign |
Het |
Ptprb |
T |
G |
10: 116,208,781 (GRCm39) |
L2205R |
probably damaging |
Het |
Stam2 |
A |
G |
2: 52,598,162 (GRCm39) |
I259T |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,189 (GRCm39) |
N162I |
possibly damaging |
Het |
Tuba3a |
A |
G |
6: 125,259,721 (GRCm39) |
V75A |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,506,757 (GRCm39) |
*852K |
probably null |
Het |
Zfp7 |
C |
T |
15: 76,772,505 (GRCm39) |
Q69* |
probably null |
Het |
Zfp865 |
G |
T |
7: 5,032,875 (GRCm39) |
A287S |
probably benign |
Het |
Zmpste24 |
T |
A |
4: 120,955,081 (GRCm39) |
Q39L |
probably benign |
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 |
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 |
2014-01-21 |