Incidental Mutation 'IGL03275:Rc3h1'
| ID |
415406 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rc3h1
|
| Ensembl Gene |
ENSMUSG00000040423 |
| Gene Name |
RING CCCH (C3H) domains 1 |
| Synonyms |
roquin, 5730557L09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
IGL03275
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
160733988-160802548 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 160787125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035911]
[ENSMUST00000161609]
|
| AlphaFold |
Q4VGL6 |
| PDB Structure |
X-ray structure of the ROQ domain from murine Roquin-1 [X-RAY DIFFRACTION]
X-ray structure of the ROQ domain from murine Roquin-1 in complex with a 23-mer Tnf-CDE RNA [X-RAY DIFFRACTION]
Crystal structure of N-terminus of Roquin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000035911
|
| SMART Domains |
Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
14 |
53 |
5.9e-8 |
SMART |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
Pfam:zf-CCCH
|
414 |
440 |
1.4e-4 |
PFAM |
|
low complexity region
|
551 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
750 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
784 |
N/A |
INTRINSIC |
|
coiled coil region
|
954 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1098 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161609
|
| SMART Domains |
Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
14 |
53 |
1.25e-5 |
SMART |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
Pfam:zf-CCCH
|
414 |
440 |
5.3e-7 |
PFAM |
|
low complexity region
|
551 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
750 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
784 |
N/A |
INTRINSIC |
|
coiled coil region
|
954 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1107 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: A single recessive mutation on this gene resulted in severe autoimmune disease with phenotype resembling human systemic lupus erythematosus. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Gene trapped(5) Chemically induced(1) |
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
A |
8: 73,198,968 (GRCm39) |
L125H |
probably damaging |
Het |
| 2210408I21Rik |
A |
T |
13: 77,446,674 (GRCm39) |
T816S |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,415,033 (GRCm39) |
I1438N |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,869,219 (GRCm39) |
Y134H |
probably damaging |
Het |
| Btnl1 |
A |
T |
17: 34,604,486 (GRCm39) |
K422N |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,777,491 (GRCm39) |
I941F |
probably benign |
Het |
| Crnn |
A |
G |
3: 93,056,725 (GRCm39) |
K504E |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,207,106 (GRCm39) |
I1308L |
probably benign |
Het |
| Cwf19l1 |
T |
C |
19: 44,111,696 (GRCm39) |
M246V |
probably benign |
Het |
| Desi1 |
T |
A |
15: 81,887,963 (GRCm39) |
I36F |
probably damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,514 (GRCm39) |
N151S |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,305,376 (GRCm39) |
V35A |
possibly damaging |
Het |
| Ftdc1 |
T |
C |
16: 58,436,119 (GRCm39) |
Y68C |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,423,095 (GRCm39) |
Y201C |
probably damaging |
Het |
| Grb10 |
T |
A |
11: 11,883,591 (GRCm39) |
T500S |
possibly damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,617,747 (GRCm39) |
*371W |
probably null |
Het |
| Irf7 |
C |
A |
7: 140,845,059 (GRCm39) |
R49L |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,060,375 (GRCm39) |
|
probably benign |
Het |
| Jam3 |
T |
C |
9: 27,012,545 (GRCm39) |
T201A |
probably damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,321,653 (GRCm39) |
R127S |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,961,587 (GRCm39) |
S606P |
possibly damaging |
Het |
| Or5p59 |
T |
A |
7: 107,702,815 (GRCm39) |
C100S |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,955,654 (GRCm39) |
E2800G |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,427,004 (GRCm39) |
P292S |
probably damaging |
Het |
| Rab10 |
A |
T |
12: 3,306,959 (GRCm39) |
Y79N |
probably damaging |
Het |
| Slc2a3 |
C |
T |
6: 122,713,701 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
T |
C |
19: 4,782,689 (GRCm39) |
Y542H |
possibly damaging |
Het |
| Tas2r110 |
T |
C |
6: 132,845,061 (GRCm39) |
F31L |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,666,143 (GRCm39) |
C222S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,547,688 (GRCm39) |
S32161P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,775,451 (GRCm39) |
S1864P |
probably damaging |
Het |
| Vmn1r228 |
A |
G |
17: 20,997,104 (GRCm39) |
I138T |
probably damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,151,243 (GRCm39) |
T124S |
probably benign |
Het |
|
| Other mutations in Rc3h1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
sanroque
|
APN |
1 |
160,940,830 (GRCm38) |
synonymous |
probably benign |
|
|
IGL00417:Rc3h1
|
APN |
1 |
160,783,551 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02302:Rc3h1
|
APN |
1 |
160,765,675 (GRCm39) |
splice site |
probably benign |
|
|
IGL03053:Rc3h1
|
APN |
1 |
160,783,387 (GRCm39) |
missense |
probably benign |
|
|
curlyfry
|
UTSW |
1 |
160,786,969 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4651001:Rc3h1
|
UTSW |
1 |
160,791,110 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0528:Rc3h1
|
UTSW |
1 |
160,795,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Rc3h1
|
UTSW |
1 |
160,757,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1620:Rc3h1
|
UTSW |
1 |
160,782,543 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1661:Rc3h1
|
UTSW |
1 |
160,786,993 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1665:Rc3h1
|
UTSW |
1 |
160,786,993 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2027:Rc3h1
|
UTSW |
1 |
160,782,507 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2145:Rc3h1
|
UTSW |
1 |
160,757,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Rc3h1
|
UTSW |
1 |
160,767,595 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2227:Rc3h1
|
UTSW |
1 |
160,791,112 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2348:Rc3h1
|
UTSW |
1 |
160,778,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2925:Rc3h1
|
UTSW |
1 |
160,782,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3977:Rc3h1
|
UTSW |
1 |
160,786,969 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5071:Rc3h1
|
UTSW |
1 |
160,787,047 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5177:Rc3h1
|
UTSW |
1 |
160,779,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Rc3h1
|
UTSW |
1 |
160,792,533 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5421:Rc3h1
|
UTSW |
1 |
160,779,400 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5699:Rc3h1
|
UTSW |
1 |
160,757,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Rc3h1
|
UTSW |
1 |
160,787,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7672:Rc3h1
|
UTSW |
1 |
160,778,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8163:Rc3h1
|
UTSW |
1 |
160,782,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Rc3h1
|
UTSW |
1 |
160,768,329 (GRCm39) |
intron |
probably benign |
|
|
R8424:Rc3h1
|
UTSW |
1 |
160,793,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Rc3h1
|
UTSW |
1 |
160,757,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Rc3h1
|
UTSW |
1 |
160,795,222 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8960:Rc3h1
|
UTSW |
1 |
160,774,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8980:Rc3h1
|
UTSW |
1 |
160,782,595 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9011:Rc3h1
|
UTSW |
1 |
160,792,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Rc3h1
|
UTSW |
1 |
160,770,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation