Incidental Mutation 'R8424:Rc3h1'
| ID |
653333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rc3h1
|
| Ensembl Gene |
ENSMUSG00000040423 |
| Gene Name |
RING CCCH (C3H) domains 1 |
| Synonyms |
roquin, 5730557L09Rik |
| MMRRC Submission |
067818-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R8424 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
160733988-160802548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 160793342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1076
(L1076F)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000035911
AA Change: L1067F
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: L1067F
| 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: L1076F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: L1076F
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
C |
T |
7: 78,946,885 (GRCm39) |
P42S |
probably damaging |
Het |
| Acss2 |
A |
G |
2: 155,416,538 (GRCm39) |
T694A |
unknown |
Het |
| Adar |
C |
T |
3: 89,643,301 (GRCm39) |
P394L |
probably damaging |
Het |
| Alx4 |
A |
G |
2: 93,507,814 (GRCm39) |
M370V |
probably benign |
Het |
| Bag6 |
T |
A |
17: 35,365,830 (GRCm39) |
L1089Q |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,365,721 (GRCm39) |
Y1155C |
probably benign |
Het |
| Cbl |
G |
A |
9: 44,064,151 (GRCm39) |
T795I |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cdc5l |
C |
A |
17: 45,726,526 (GRCm39) |
A349S |
probably benign |
Het |
| Cdh5 |
G |
A |
8: 104,856,003 (GRCm39) |
R312H |
probably benign |
Het |
| Cdk5rap1 |
T |
C |
2: 154,187,932 (GRCm39) |
T465A |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,741,906 (GRCm39) |
T114I |
possibly damaging |
Het |
| Csrp1 |
T |
C |
1: 135,667,188 (GRCm39) |
V17A |
probably damaging |
Het |
| Cutal |
T |
C |
2: 34,777,804 (GRCm39) |
S105P |
probably benign |
Het |
| Dgki |
C |
A |
6: 36,827,850 (GRCm39) |
V1016L |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,829,836 (GRCm39) |
N746S |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,841,144 (GRCm39) |
V1796E |
unknown |
Het |
| Fam83a |
T |
A |
15: 57,873,046 (GRCm39) |
S292T |
possibly damaging |
Het |
| H2ac4 |
A |
G |
13: 23,935,267 (GRCm39) |
Y51C |
probably damaging |
Het |
| Keap1 |
C |
A |
9: 21,142,086 (GRCm39) |
R596L |
probably benign |
Het |
| Klhl5 |
A |
C |
5: 65,320,305 (GRCm39) |
T620P |
probably benign |
Het |
| Lbhd1 |
T |
A |
19: 8,861,341 (GRCm39) |
D16E |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,083,414 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ncbp1 |
A |
T |
4: 46,144,839 (GRCm39) |
H30L |
probably benign |
Het |
| Or5ac21 |
A |
T |
16: 59,123,772 (GRCm39) |
L85F |
possibly damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,023,902 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,672,239 (GRCm39) |
I1431V |
possibly damaging |
Het |
| S100a7a |
T |
A |
3: 90,562,868 (GRCm39) |
H18Q |
probably damaging |
Het |
| Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,862,296 (GRCm39) |
T340A |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,126,644 (GRCm39) |
E1227G |
probably benign |
Het |
| Sh3yl1 |
G |
A |
12: 30,974,862 (GRCm39) |
R71H |
probably damaging |
Het |
| Spry2 |
A |
G |
14: 106,130,836 (GRCm39) |
S117P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,141,560 (GRCm39) |
V1780A |
probably benign |
Het |
| Sting1 |
A |
C |
18: 35,872,223 (GRCm39) |
I93S |
probably benign |
Het |
| Tas2r130 |
T |
G |
6: 131,607,790 (GRCm39) |
T2P |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,566,316 (GRCm39) |
F1454I |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,566,317 (GRCm39) |
F1454S |
probably damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,555,205 (GRCm39) |
S793P |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,928,338 (GRCm39) |
D535E |
probably damaging |
Het |
| Ube2h |
A |
G |
6: 30,260,940 (GRCm39) |
S65P |
probably damaging |
Het |
| Vmn1r203 |
T |
C |
13: 22,709,004 (GRCm39) |
S262P |
probably damaging |
Het |
| Wfdc8 |
A |
G |
2: 164,445,078 (GRCm39) |
F179S |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,911,388 (GRCm39) |
T2153A |
unknown |
Het |
| Zfhx3 |
G |
T |
8: 109,583,385 (GRCm39) |
G1084V |
probably damaging |
Het |
| Zfp273 |
A |
G |
13: 67,970,471 (GRCm39) |
N40D |
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,112,480 (GRCm39) |
P207S |
possibly damaging |
Het |
| Zfp952 |
T |
A |
17: 33,222,191 (GRCm39) |
F223L |
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 |
|
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 |
|
|
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'- AGAAAAGGTGGGTTGTACTGTATAC -3'
(R):5'- AGCCCCAGTAAAGTGCTAAG -3'
Sequencing Primer
(F):5'- AAGGTGGGTTGTACTGTATACTTTAG -3'
(R):5'- GCCCCAGTAAAGTGCTAAGTTTTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation