Incidental Mutation 'R9079:Ro60'
| ID |
689878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ro60
|
| Ensembl Gene |
ENSMUSG00000018199 |
| Gene Name |
Ro60, Y RNA binding protein |
| Synonyms |
A530054J02Rik, Ssa, Trove2, SS-A/Ro, 1810007I17Rik, Ssa2 |
| MMRRC Submission |
068899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R9079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
143626528-143652794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 143641519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 314
(L314R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159879]
|
| AlphaFold |
O08848 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159879
AA Change: L314R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125623
Gene: ENSMUSG00000018199
AA Change: L314R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TROVE
|
16 |
369 |
9.7e-99 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
T |
15: 57,989,223 (GRCm39) |
S212R |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,112,816 (GRCm39) |
V1213E |
probably damaging |
Het |
| Brd1 |
T |
C |
15: 88,598,153 (GRCm39) |
D531G |
probably damaging |
Het |
| Cd1d1 |
T |
A |
3: 86,906,197 (GRCm39) |
Y26F |
probably benign |
Het |
| Cep83 |
T |
C |
10: 94,564,541 (GRCm39) |
F160S |
possibly damaging |
Het |
| Cfap61 |
G |
T |
2: 145,781,859 (GRCm39) |
V31F |
probably benign |
Het |
| Cox11 |
G |
A |
11: 90,535,246 (GRCm39) |
M232I |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,291,914 (GRCm39) |
S3304P |
probably benign |
Het |
| Eif4b |
T |
A |
15: 102,003,177 (GRCm39) |
D549E |
unknown |
Het |
| Extl1 |
T |
A |
4: 134,089,975 (GRCm39) |
N378Y |
probably damaging |
Het |
| Fbxo4 |
C |
T |
15: 3,998,388 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
C |
A |
3: 85,579,590 (GRCm39) |
G872* |
probably null |
Het |
| G430095P16Rik |
A |
T |
8: 85,453,412 (GRCm39) |
H133L |
unknown |
Het |
| Gm8138 |
A |
T |
14: 43,272,502 (GRCm39) |
N104K |
|
Het |
| Gzma |
A |
G |
13: 113,232,858 (GRCm39) |
F78S |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,923,190 (GRCm39) |
S400P |
possibly damaging |
Het |
| Hnrnpm |
G |
T |
17: 33,868,775 (GRCm39) |
R551S |
probably damaging |
Het |
| Htr5b |
T |
A |
1: 121,455,816 (GRCm39) |
T35S |
probably benign |
Het |
| Jak3 |
A |
C |
8: 72,131,898 (GRCm39) |
E158A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
C |
A |
4: 74,277,738 (GRCm39) |
D797E |
probably benign |
Het |
| Klhl31 |
T |
A |
9: 77,558,151 (GRCm39) |
V289E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,490,593 (GRCm39) |
S1398P |
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,235,473 (GRCm39) |
|
probably benign |
Het |
| Mrps28 |
A |
G |
3: 8,867,308 (GRCm39) |
*187Q |
probably null |
Het |
| Myh7b |
G |
A |
2: 155,465,174 (GRCm39) |
V677I |
probably damaging |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,383,033 (GRCm39) |
|
probably benign |
Het |
| Nr1h2 |
C |
A |
7: 44,199,430 (GRCm39) |
E440D |
possibly damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,989 (GRCm39) |
V255A |
probably damaging |
Het |
| Or6c207 |
A |
T |
10: 129,104,466 (GRCm39) |
M242K |
possibly damaging |
Het |
| Or7g16 |
A |
T |
9: 18,726,731 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,750,769 (GRCm39) |
I13N |
probably benign |
Het |
| Osbpl9 |
A |
T |
4: 108,920,644 (GRCm39) |
V543D |
possibly damaging |
Het |
| Pcgf6 |
T |
C |
19: 47,039,053 (GRCm39) |
E69G |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,157,537 (GRCm39) |
L2391P |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,952,393 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,915,637 (GRCm39) |
R1069H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Senp5 |
A |
T |
16: 31,787,718 (GRCm39) |
I635N |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,484,241 (GRCm39) |
K126M |
possibly damaging |
Het |
| Slc9b2 |
A |
T |
3: 135,042,150 (GRCm39) |
R476S |
probably damaging |
Het |
| Sptb |
G |
T |
12: 76,677,454 (GRCm39) |
R127S |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,056,308 (GRCm39) |
S394P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,950,966 (GRCm39) |
I1636N |
possibly damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Trio |
T |
C |
15: 27,733,023 (GRCm39) |
I2953V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,632,734 (GRCm39) |
F14107L |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,895,120 (GRCm39) |
|
probably benign |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,979 (GRCm39) |
L290F |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,602 (GRCm39) |
M272V |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,640 (GRCm39) |
N343Y |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,076,403 (GRCm39) |
W45R |
|
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 |
|
IGL01578:Ro60
|
APN |
1 |
143,637,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGACAGAAGGTGATTGCC -3'
(R):5'- ACTGTGTTCCACTCTGAGCC -3'
Sequencing Primer
(F):5'- CAGAAGGTGATTGCCAAATTTAAG -3'
(R):5'- GTGTTCCACTCTGAGCCATTTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation