Incidental Mutation 'IGL01578:Ro60'
| ID |
91320 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ro60
|
| Ensembl Gene |
ENSMUSG00000018199 |
| Gene Name |
Ro60, Y RNA binding protein |
| Synonyms |
A530054J02Rik, Ssa, Trove2, SS-A/Ro, 1810007I17Rik, Ssa2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
IGL01578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
143626528-143652794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143637038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 391
(N391K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159879]
|
| AlphaFold |
O08848 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000018343
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159879
AA Change: N391K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125623
Gene: ENSMUSG00000018199
AA Change: N391K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TROVE
|
16 |
369 |
9.7e-99 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice develop symptoms similar to those observed in patients with lupus, including increased photosensitivity and membranoproliferative glomerulonephritis. The production of autoantibodies is detected in both homozygous and heterozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
G |
A |
17: 68,165,195 (GRCm39) |
T516I |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,955,192 (GRCm39) |
C3486R |
probably benign |
Het |
| Camk2g |
G |
A |
14: 20,797,922 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,300,194 (GRCm39) |
E3167G |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,095,272 (GRCm39) |
H2950Q |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,800,870 (GRCm39) |
S379T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,555,704 (GRCm39) |
H13Y |
probably damaging |
Het |
| Fam149a |
A |
T |
8: 45,803,479 (GRCm39) |
D337E |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,842,361 (GRCm39) |
|
probably benign |
Het |
| Gm6489 |
G |
T |
1: 31,326,416 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
G |
A |
4: 137,266,494 (GRCm39) |
R1885H |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,941,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,809,503 (GRCm39) |
N216K |
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,846,198 (GRCm39) |
Y37C |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,139,019 (GRCm39) |
N486S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,890,506 (GRCm39) |
L7342Q |
unknown |
Het |
| Or13l2 |
A |
T |
3: 97,318,036 (GRCm39) |
C154S |
probably damaging |
Het |
| Or56b2 |
A |
G |
7: 104,338,052 (GRCm39) |
I277V |
probably benign |
Het |
| Or8k20 |
C |
A |
2: 86,106,085 (GRCm39) |
V249F |
probably damaging |
Het |
| Pou4f2 |
A |
C |
8: 79,162,284 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,551,001 (GRCm39) |
P10S |
unknown |
Het |
| Psd2 |
A |
G |
18: 36,112,838 (GRCm39) |
T178A |
probably damaging |
Het |
| Slc25a34 |
G |
T |
4: 141,349,821 (GRCm39) |
|
probably null |
Het |
| Stap2 |
A |
G |
17: 56,304,623 (GRCm39) |
S360P |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,763,969 (GRCm39) |
E129G |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,979,436 (GRCm39) |
E28D |
probably damaging |
Het |
| Tmem126a |
C |
T |
7: 90,100,750 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,863,511 (GRCm39) |
S608P |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,711,297 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ro60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01563:Ro60
|
APN |
1 |
143,637,120 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02006:Ro60
|
APN |
1 |
143,636,084 (GRCm39) |
splice site |
probably benign |
|
|
IGL02155:Ro60
|
APN |
1 |
143,637,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02219:Ro60
|
APN |
1 |
143,637,013 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02637:Ro60
|
APN |
1 |
143,646,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03013:Ro60
|
APN |
1 |
143,646,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03075:Ro60
|
APN |
1 |
143,646,509 (GRCm39) |
missense |
probably benign |
|
|
R0415:Ro60
|
UTSW |
1 |
143,635,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0443:Ro60
|
UTSW |
1 |
143,641,661 (GRCm39) |
splice site |
probably benign |
|
|
R0479:Ro60
|
UTSW |
1 |
143,633,489 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1696:Ro60
|
UTSW |
1 |
143,633,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1728:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R1728:Ro60
|
UTSW |
1 |
143,635,752 (GRCm39) |
missense |
probably benign |
|
|
R1729:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R1729:Ro60
|
UTSW |
1 |
143,635,752 (GRCm39) |
missense |
probably benign |
|
|
R1730:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R1730:Ro60
|
UTSW |
1 |
143,635,752 (GRCm39) |
missense |
probably benign |
|
|
R1739:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R1739:Ro60
|
UTSW |
1 |
143,635,752 (GRCm39) |
missense |
probably benign |
|
|
R1762:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R1762:Ro60
|
UTSW |
1 |
143,635,752 (GRCm39) |
missense |
probably benign |
|
|
R1783:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R1783:Ro60
|
UTSW |
1 |
143,635,752 (GRCm39) |
missense |
probably benign |
|
|
R1784:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R1784:Ro60
|
UTSW |
1 |
143,635,752 (GRCm39) |
missense |
probably benign |
|
|
R1785:Ro60
|
UTSW |
1 |
143,635,752 (GRCm39) |
missense |
probably benign |
|
|
R1785:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R1857:Ro60
|
UTSW |
1 |
143,646,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2049:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R2130:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R2131:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R2133:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R2141:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R2142:Ro60
|
UTSW |
1 |
143,635,772 (GRCm39) |
missense |
probably benign |
|
|
R2372:Ro60
|
UTSW |
1 |
143,646,620 (GRCm39) |
nonsense |
probably null |
|
|
R2929:Ro60
|
UTSW |
1 |
143,633,616 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4191:Ro60
|
UTSW |
1 |
143,646,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5520:Ro60
|
UTSW |
1 |
143,646,509 (GRCm39) |
missense |
probably benign |
|
|
R5821:Ro60
|
UTSW |
1 |
143,642,503 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7432:Ro60
|
UTSW |
1 |
143,641,548 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7658:Ro60
|
UTSW |
1 |
143,646,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Ro60
|
UTSW |
1 |
143,641,517 (GRCm39) |
nonsense |
probably null |
|
|
R8924:Ro60
|
UTSW |
1 |
143,641,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9079:Ro60
|
UTSW |
1 |
143,641,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation