Incidental Mutation 'IGL01921:R3hcc1l'
| ID |
180102 |
| 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 # |
IGL01921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42507198-42580782 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42552220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 406
(S406G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026188]
[ENSMUST00000160107]
[ENSMUST00000160893]
|
| AlphaFold |
Q8BJM3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026188
AA Change: S406G
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184
AA Change: S406G
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
A |
8: 44,078,548 (GRCm39) |
V559L |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,660,297 (GRCm39) |
T310A |
possibly damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,640,019 (GRCm39) |
T92A |
probably damaging |
Het |
| Ciao1 |
C |
T |
2: 127,084,755 (GRCm39) |
V328I |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,557,299 (GRCm39) |
Q1943L |
possibly damaging |
Het |
| Diaph1 |
T |
C |
18: 37,989,261 (GRCm39) |
D898G |
possibly damaging |
Het |
| Dio3 |
A |
T |
12: 110,245,789 (GRCm39) |
T42S |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,955,115 (GRCm39) |
I2048N |
probably benign |
Het |
| Egr2 |
T |
A |
10: 67,376,208 (GRCm39) |
|
probably null |
Het |
| Epc2 |
T |
A |
2: 49,422,209 (GRCm39) |
Y368N |
probably damaging |
Het |
| Furin |
A |
G |
7: 80,045,702 (GRCm39) |
|
probably benign |
Het |
| Gga1 |
T |
C |
15: 78,777,995 (GRCm39) |
M620T |
possibly damaging |
Het |
| Gm21976 |
T |
A |
13: 98,441,829 (GRCm39) |
Y45* |
probably null |
Het |
| Gpn1 |
T |
C |
5: 31,656,612 (GRCm39) |
V105A |
probably damaging |
Het |
| Hoxb8 |
A |
T |
11: 96,175,181 (GRCm39) |
N206I |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,808,569 (GRCm39) |
L67Q |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,989 (GRCm39) |
|
probably benign |
Het |
| Mat1a |
T |
C |
14: 40,836,292 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
T |
C |
6: 39,382,847 (GRCm39) |
D99G |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,474 (GRCm39) |
Y645C |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,671 (GRCm39) |
V702A |
probably benign |
Het |
| Ppp4r4 |
G |
T |
12: 103,542,569 (GRCm39) |
M1I |
probably null |
Het |
| Prss21 |
T |
A |
17: 24,091,414 (GRCm39) |
M217K |
possibly damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,385 (GRCm39) |
E7G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,565 (GRCm39) |
E694G |
possibly damaging |
Het |
| Rlf |
T |
C |
4: 121,003,943 (GRCm39) |
D1679G |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,569,436 (GRCm39) |
C4956Y |
possibly damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,632 (GRCm39) |
E848* |
probably null |
Het |
| Uri1 |
T |
A |
7: 37,681,072 (GRCm39) |
K111* |
probably null |
Het |
| Usf1 |
A |
G |
1: 171,244,424 (GRCm39) |
E108G |
possibly damaging |
Het |
| Vmn1r71 |
C |
A |
7: 10,482,199 (GRCm39) |
R163L |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r86 |
T |
C |
10: 130,291,610 (GRCm39) |
T52A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,213,958 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
T |
C |
7: 6,328,569 (GRCm39) |
T7A |
possibly damaging |
Het |
| Zim1 |
T |
G |
7: 6,685,184 (GRCm39) |
|
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 |
|
IGL01731:R3hcc1l
|
APN |
19 |
42,551,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2014-05-07 |
Incidental Mutation