Incidental Mutation 'R8163:Rc3h1'
| ID |
633602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rc3h1
|
| Ensembl Gene |
ENSMUSG00000040423 |
| Gene Name |
RING CCCH (C3H) domains 1 |
| Synonyms |
roquin, 5730557L09Rik |
| MMRRC Submission |
067589-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R8163 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160733988-160802548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 160782629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 703
(Y703N)
|
| 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: Y703N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: Y703N
| 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: Y703N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: Y703N
| 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: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930022D16Rik |
A |
G |
11: 109,304,883 (GRCm39) |
I11V |
unknown |
Het |
| Ago3 |
G |
T |
4: 126,262,377 (GRCm39) |
T391K |
probably benign |
Het |
| Asap1 |
A |
G |
15: 63,963,899 (GRCm39) |
W1100R |
probably damaging |
Het |
| Bbof1 |
T |
C |
12: 84,473,536 (GRCm39) |
S289P |
possibly damaging |
Het |
| Cd3d |
T |
C |
9: 44,896,952 (GRCm39) |
F109L |
probably benign |
Het |
| Cebpd |
A |
T |
16: 15,705,841 (GRCm39) |
E218V |
probably damaging |
Het |
| Cfl1 |
T |
C |
19: 5,543,528 (GRCm39) |
|
probably benign |
Het |
| Cpa2 |
A |
C |
6: 30,564,350 (GRCm39) |
I394L |
probably damaging |
Het |
| Ddx50 |
C |
A |
10: 62,475,678 (GRCm39) |
V348F |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Echs1 |
A |
G |
7: 139,692,357 (GRCm39) |
V130A |
possibly damaging |
Het |
| Eif2s2 |
A |
G |
2: 154,734,621 (GRCm39) |
S2P |
probably benign |
Het |
| Fastk |
A |
G |
5: 24,649,273 (GRCm39) |
I38T |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,871,055 (GRCm39) |
R3779C |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,033,881 (GRCm39) |
N2511I |
possibly damaging |
Het |
| Fbxw13 |
G |
A |
9: 109,012,122 (GRCm39) |
T315I |
probably benign |
Het |
| Fzd5 |
A |
T |
1: 64,774,352 (GRCm39) |
Y470N |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gpr25 |
T |
C |
1: 136,187,596 (GRCm39) |
D339G |
probably damaging |
Het |
| Igsf9b |
T |
A |
9: 27,233,907 (GRCm39) |
|
probably null |
Het |
| Il5 |
T |
A |
11: 53,614,813 (GRCm39) |
M125K |
possibly damaging |
Het |
| Iqub |
G |
A |
6: 24,449,714 (GRCm39) |
T717I |
probably benign |
Het |
| Katnb1 |
T |
C |
8: 95,823,014 (GRCm39) |
F403S |
probably damaging |
Het |
| Krt26 |
T |
C |
11: 99,220,498 (GRCm39) |
I451V |
probably benign |
Het |
| Krt88 |
T |
C |
15: 101,351,389 (GRCm39) |
L132P |
probably damaging |
Het |
| Kynu |
G |
T |
2: 43,518,966 (GRCm39) |
G245V |
probably damaging |
Het |
| Lap3 |
C |
T |
5: 45,669,389 (GRCm39) |
R513* |
probably null |
Het |
| Lin9 |
C |
T |
1: 180,486,691 (GRCm39) |
R126W |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,506,688 (GRCm39) |
I1760K |
unknown |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,777 (GRCm39) |
R175H |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,584,774 (GRCm39) |
L60P |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,343,828 (GRCm39) |
F142S |
probably damaging |
Het |
| Nktr |
TAGAAG |
TAG |
9: 121,579,929 (GRCm39) |
|
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,552 (GRCm39) |
I27V |
probably benign |
Het |
| Parp16 |
T |
A |
9: 65,137,231 (GRCm39) |
H152Q |
probably damaging |
Het |
| Plaa |
C |
G |
4: 94,457,640 (GRCm39) |
V777L |
probably benign |
Het |
| Prnp |
A |
G |
2: 131,778,908 (GRCm39) |
T187A |
probably benign |
Het |
| Pzp |
T |
G |
6: 128,489,157 (GRCm39) |
I485L |
probably benign |
Het |
| Rngtt |
G |
A |
4: 33,325,109 (GRCm39) |
C110Y |
probably damaging |
Het |
| Rps10 |
G |
A |
17: 27,853,085 (GRCm39) |
R95C |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,314,745 (GRCm39) |
I1658F |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,306,433 (GRCm39) |
W702R |
|
Het |
| Taf6 |
G |
T |
5: 138,180,238 (GRCm39) |
Q339K |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Tmem198 |
C |
T |
1: 75,459,671 (GRCm39) |
P209S |
possibly damaging |
Het |
| Vmn2r78 |
G |
A |
7: 86,603,660 (GRCm39) |
A613T |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,857,720 (GRCm39) |
E2651K |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,873,545 (GRCm39) |
V255I |
|
Het |
| Zfhx3 |
A |
G |
8: 109,675,925 (GRCm39) |
D2325G |
probably damaging |
Het |
| Zfp36l2 |
T |
C |
17: 84,494,551 (GRCm39) |
N29D |
possibly damaging |
Het |
| Zfp692 |
T |
A |
11: 58,201,199 (GRCm39) |
|
probably null |
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 |
|
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'- TGAACCTGGTCCTCCATACTTG -3'
(R):5'- GGTGTACATGTACCTGTGCTC -3'
Sequencing Primer
(F):5'- GGATCATTATTCACCCTACCTCCAAG -3'
(R):5'- GTGCTCGCTCTCACACAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation