Incidental Mutation 'R2348:Rc3h1'
ID |
246017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rc3h1
|
Ensembl Gene |
ENSMUSG00000040423 |
Gene Name |
RING CCCH (C3H) domains 1 |
Synonyms |
roquin, 5730557L09Rik |
MMRRC Submission |
040330-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R2348 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
160733988-160802548 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 160778430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 452
(R452S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035911]
[ENSMUST00000161609]
|
AlphaFold |
Q4VGL6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035911
AA Change: R452S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037178 Gene: ENSMUSG00000040423 AA Change: R452S
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: R452S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124871 Gene: ENSMUSG00000040423 AA Change: R452S
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 |
0.0955 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (31/31) |
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcyap1 |
A |
G |
17: 93,509,702 (GRCm39) |
D51G |
possibly damaging |
Het |
Ano3 |
A |
G |
2: 110,614,088 (GRCm39) |
I205T |
possibly damaging |
Het |
Arhgap10 |
A |
T |
8: 78,177,555 (GRCm39) |
|
probably benign |
Het |
Asb18 |
T |
G |
1: 89,942,256 (GRCm39) |
D15A |
probably damaging |
Het |
Atm |
C |
A |
9: 53,403,568 (GRCm39) |
S1368I |
possibly damaging |
Het |
Atp9a |
A |
T |
2: 168,552,746 (GRCm39) |
|
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,062,573 (GRCm39) |
V653A |
probably damaging |
Het |
Ctc1 |
T |
A |
11: 68,917,017 (GRCm39) |
S304T |
probably benign |
Het |
Dennd4c |
G |
A |
4: 86,729,764 (GRCm39) |
V789I |
probably benign |
Het |
Dlgap4 |
C |
A |
2: 156,543,126 (GRCm39) |
D176E |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,090,840 (GRCm39) |
T747A |
probably benign |
Het |
Htr2a |
A |
T |
14: 74,882,550 (GRCm39) |
N179Y |
probably damaging |
Het |
Ift52 |
T |
C |
2: 162,887,177 (GRCm39) |
V393A |
probably damaging |
Het |
Itch |
T |
C |
2: 155,050,998 (GRCm39) |
S562P |
possibly damaging |
Het |
Khdc4 |
T |
C |
3: 88,616,183 (GRCm39) |
S457P |
probably benign |
Het |
Kiss1r |
G |
T |
10: 79,757,654 (GRCm39) |
R336L |
probably benign |
Het |
Klra13-ps |
A |
T |
6: 130,268,271 (GRCm39) |
|
noncoding transcript |
Het |
Krt8 |
T |
C |
15: 101,907,300 (GRCm39) |
D261G |
probably benign |
Het |
Mycl |
A |
T |
4: 122,890,745 (GRCm39) |
T144S |
probably benign |
Het |
Naip5 |
C |
T |
13: 100,356,246 (GRCm39) |
R1123K |
probably benign |
Het |
Or5b122 |
A |
T |
19: 13,563,553 (GRCm39) |
E295V |
probably damaging |
Het |
Rasip1 |
T |
G |
7: 45,278,507 (GRCm39) |
|
probably null |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,651,461 (GRCm39) |
K258N |
probably benign |
Het |
Vps37c |
T |
C |
19: 10,683,664 (GRCm39) |
S29P |
probably damaging |
Het |
Zfp457 |
T |
A |
13: 67,441,468 (GRCm39) |
D369V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCATGAAACACAGACTTGGG -3'
(R):5'- CAGTTGTGTCACTGTGCTCC -3'
Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGAATTTGG -3'
(R):5'- CCTGACGATGCAATTCCATTTGGG -3'
|
Posted On |
2014-10-30 |