Incidental Mutation 'R2925:Rc3h1'
| ID |
255686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rc3h1
|
| Ensembl Gene |
ENSMUSG00000040423 |
| Gene Name |
RING CCCH (C3H) domains 1 |
| Synonyms |
roquin, 5730557L09Rik |
| MMRRC Submission |
040510-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R2925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160733988-160802548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 160782546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 675
(Y675C)
|
| 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 damaging
Transcript: ENSMUST00000035911
AA Change: Y675C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: Y675C
| 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 damaging
Transcript: ENSMUST00000161609
AA Change: Y675C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: Y675C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161708
|
| Meta Mutation Damage Score |
0.3230 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (40/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,407,755 (GRCm39) |
T93A |
probably damaging |
Het |
| Acte1 |
A |
T |
7: 143,437,736 (GRCm39) |
R147* |
probably null |
Het |
| Akr1c21 |
A |
G |
13: 4,626,349 (GRCm39) |
|
probably null |
Het |
| Alk |
A |
G |
17: 72,910,202 (GRCm39) |
V168A |
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,727,997 (GRCm39) |
E337G |
probably damaging |
Het |
| Bltp1 |
G |
T |
3: 37,061,271 (GRCm39) |
A3327S |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,665,984 (GRCm39) |
S283P |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,936,489 (GRCm39) |
E628K |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,821,907 (GRCm39) |
T1856M |
probably benign |
Het |
| Defb41 |
T |
C |
1: 18,330,857 (GRCm39) |
D30G |
probably damaging |
Het |
| Dnai1 |
A |
T |
4: 41,597,919 (GRCm39) |
I74F |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,833,928 (GRCm39) |
K851* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,242,837 (GRCm39) |
C846S |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,679,862 (GRCm39) |
T110A |
probably benign |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lyz3 |
C |
T |
10: 117,070,336 (GRCm39) |
R147Q |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,981,446 (GRCm39) |
F224L |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,483,210 (GRCm39) |
R429Q |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,402,349 (GRCm39) |
T727K |
probably benign |
Het |
| Nek4 |
G |
A |
14: 30,673,667 (GRCm39) |
G29S |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup214 |
A |
G |
2: 31,888,015 (GRCm39) |
K15E |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,706 (GRCm39) |
Y119* |
probably null |
Het |
| Or5m11b |
T |
A |
2: 85,806,125 (GRCm39) |
C179* |
probably null |
Het |
| Or8k32 |
C |
T |
2: 86,368,891 (GRCm39) |
D121N |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,342 (GRCm39) |
S7R |
probably benign |
Het |
| P2ry13 |
G |
A |
3: 59,116,801 (GRCm39) |
H326Y |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,452 (GRCm39) |
F2563S |
probably damaging |
Het |
| Samd3 |
T |
A |
10: 26,127,785 (GRCm39) |
S288T |
probably benign |
Het |
| Scaf4 |
G |
T |
16: 90,047,177 (GRCm39) |
P400Q |
unknown |
Het |
| Selplg |
T |
C |
5: 113,958,240 (GRCm39) |
D22G |
possibly damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,708,999 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
T |
A |
7: 44,045,222 (GRCm39) |
V518E |
probably damaging |
Het |
| Tnks |
G |
A |
8: 35,432,815 (GRCm39) |
A2V |
unknown |
Het |
| Upk3a |
A |
G |
15: 84,902,350 (GRCm39) |
Y59C |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
| Zbed5 |
A |
G |
5: 129,932,039 (GRCm39) |
T663A |
possibly damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,794,447 (GRCm39) |
R8Q |
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 |
|
|
IGL03275:Rc3h1
|
APN |
1 |
160,787,125 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATGTGTGTCCCGCTTTG -3'
(R):5'- GGTGTACATGTACCTGTGCTCG -3'
Sequencing Primer
(F):5'- GTCCGACCTCCACCATCTG -3'
(R):5'- AAAATACAGCTTACCCTGGGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation