Incidental Mutation 'R1620:Rc3h1'
| ID |
174592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rc3h1
|
| Ensembl Gene |
ENSMUSG00000040423 |
| Gene Name |
RING CCCH (C3H) domains 1 |
| Synonyms |
roquin, 5730557L09Rik |
| MMRRC Submission |
039657-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R1620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160733988-160802548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 160782543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 674
(V674A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035911]
[ENSMUST00000161609]
|
| AlphaFold |
Q4VGL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035911
AA Change: V674A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: V674A
| 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 benign
Transcript: ENSMUST00000161609
AA Change: V674A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: V674A
| 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 |
0.0957 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
95% (58/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c2 |
T |
C |
8: 120,475,865 (GRCm39) |
V586A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,028,632 (GRCm39) |
H945L |
probably benign |
Het |
| Bfar |
G |
T |
16: 13,506,710 (GRCm39) |
V187F |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,344,702 (GRCm39) |
I73N |
probably damaging |
Het |
| Cfc1 |
C |
A |
1: 34,575,554 (GRCm39) |
A76E |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,667,203 (GRCm39) |
F398L |
probably benign |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,350 (GRCm39) |
S143P |
probably damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,591,056 (GRCm39) |
Y57* |
probably null |
Het |
| Epha4 |
T |
A |
1: 77,351,563 (GRCm39) |
R897S |
probably benign |
Het |
| Fscn2 |
A |
T |
11: 120,257,511 (GRCm39) |
T291S |
probably damaging |
Het |
| Gga1 |
G |
A |
15: 78,772,670 (GRCm39) |
S267N |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,376,850 (GRCm39) |
T1287A |
probably damaging |
Het |
| Gm10845 |
C |
A |
14: 80,100,669 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11559 |
T |
A |
11: 99,755,882 (GRCm39) |
L177Q |
unknown |
Het |
| Itga9 |
A |
G |
9: 118,672,570 (GRCm39) |
T195A |
probably benign |
Het |
| Krbox5 |
T |
C |
13: 67,991,109 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,074,028 (GRCm39) |
T935A |
probably benign |
Het |
| Lrrk1 |
G |
T |
7: 66,031,286 (GRCm39) |
T4K |
probably benign |
Het |
| Lrrn1 |
G |
A |
6: 107,545,327 (GRCm39) |
C375Y |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,449,144 (GRCm39) |
|
probably null |
Het |
| Mecom |
A |
T |
3: 30,041,237 (GRCm39) |
I119N |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,958,425 (GRCm39) |
R69H |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,421,773 (GRCm39) |
V8246A |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,979,562 (GRCm39) |
|
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Myot |
A |
T |
18: 44,470,125 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,118,064 (GRCm39) |
D596G |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,372,993 (GRCm39) |
S415P |
possibly damaging |
Het |
| Obox2 |
A |
G |
7: 15,130,966 (GRCm39) |
E66G |
probably benign |
Het |
| Or4f59 |
G |
T |
2: 111,872,591 (GRCm39) |
T262K |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Phactr1 |
G |
T |
13: 43,248,373 (GRCm39) |
V356L |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,450,242 (GRCm39) |
I414L |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,517,420 (GRCm39) |
I371L |
possibly damaging |
Het |
| Rps6ka4 |
T |
C |
19: 6,815,517 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sf3b6 |
T |
C |
12: 4,876,808 (GRCm39) |
I67T |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,915,412 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,244 (GRCm39) |
T217A |
probably benign |
Het |
| Tank |
A |
G |
2: 61,480,442 (GRCm39) |
D326G |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,976,224 (GRCm39) |
N594K |
probably damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,507 (GRCm39) |
T102S |
probably benign |
Het |
| Ulk4 |
T |
G |
9: 121,033,871 (GRCm39) |
E589D |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,947 (GRCm39) |
H305Q |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,754 (GRCm39) |
K52R |
probably benign |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,133 (GRCm39) |
D250G |
probably damaging |
Het |
| Wdr6 |
A |
T |
9: 108,451,854 (GRCm39) |
D676E |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,179 (GRCm39) |
V1140E |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACCTTGCCAATTCCAGGTAAAC -3'
(R):5'- TCTGATCTGAGCTGGATGAGGAGC -3'
Sequencing Primer
(F):5'- atgccaccatcgcccag -3'
(R):5'- GAGCCACCGGGTAGTAAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation