Incidental Mutation 'R4363:Otulinl'
| ID |
325003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otulinl
|
| Ensembl Gene |
ENSMUSG00000056069 |
| Gene Name |
OTU deubiquitinase with linear linkage specificity like |
| Synonyms |
Fam105a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4363 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
27655154-27681630 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 27664429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100739]
[ENSMUST00000226145]
[ENSMUST00000226170]
[ENSMUST00000226581]
|
| AlphaFold |
Q3TVP5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100739
|
| SMART Domains |
Protein: ENSMUSP00000098305
Gene: ENSMUSG00000056069
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C101
|
85 |
114 |
4e-10 |
PFAM |
|
Pfam:Peptidase_C101
|
112 |
302 |
1.1e-79 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226145
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232492
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
T |
19: 43,787,575 (GRCm39) |
W207L |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,151,303 (GRCm39) |
V1081E |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,085,003 (GRCm39) |
I400N |
possibly damaging |
Het |
| Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
C |
17: 29,893,206 (GRCm39) |
L75P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,582,722 (GRCm39) |
I72F |
probably damaging |
Het |
| Dsn1 |
A |
T |
2: 156,841,062 (GRCm39) |
I214K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,590,276 (GRCm39) |
W809R |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
| Fbxo33 |
T |
C |
12: 59,251,648 (GRCm39) |
H289R |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,331 (GRCm39) |
S1008P |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,781,100 (GRCm39) |
N189S |
probably benign |
Het |
| Hus1 |
G |
T |
11: 8,948,676 (GRCm39) |
L242I |
probably damaging |
Het |
| Hyou1 |
G |
A |
9: 44,291,912 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
A |
3: 86,997,792 (GRCm39) |
E244* |
probably null |
Het |
| Mmrn2 |
C |
T |
14: 34,119,934 (GRCm39) |
A268V |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,485,893 (GRCm39) |
A1023E |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,557,902 (GRCm39) |
I47V |
probably benign |
Het |
| Or1j11 |
A |
T |
2: 36,311,544 (GRCm39) |
I45F |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
| Pak1 |
T |
C |
7: 97,532,793 (GRCm39) |
S198P |
possibly damaging |
Het |
| Pank1 |
A |
C |
19: 34,804,532 (GRCm39) |
V208G |
probably damaging |
Het |
| Pcdhga12 |
C |
G |
18: 37,899,214 (GRCm39) |
F15L |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,590,244 (GRCm39) |
D723G |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,104,020 (GRCm39) |
I147N |
probably damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,850,060 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
G |
6: 48,475,665 (GRCm39) |
Y4927C |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,794,766 (GRCm39) |
H477L |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r-ps69 |
T |
C |
7: 84,959,700 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Otulinl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Otulinl
|
APN |
15 |
27,658,202 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01662:Otulinl
|
APN |
15 |
27,658,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02991:Otulinl
|
UTSW |
15 |
27,658,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0349:Otulinl
|
UTSW |
15 |
27,664,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0726:Otulinl
|
UTSW |
15 |
27,657,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Otulinl
|
UTSW |
15 |
27,664,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1201:Otulinl
|
UTSW |
15 |
27,658,259 (GRCm39) |
nonsense |
probably null |
|
|
R3001:Otulinl
|
UTSW |
15 |
27,664,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3002:Otulinl
|
UTSW |
15 |
27,664,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4362:Otulinl
|
UTSW |
15 |
27,664,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5340:Otulinl
|
UTSW |
15 |
27,658,175 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5364:Otulinl
|
UTSW |
15 |
27,660,031 (GRCm39) |
nonsense |
probably null |
|
|
R5920:Otulinl
|
UTSW |
15 |
27,664,442 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7044:Otulinl
|
UTSW |
15 |
27,657,321 (GRCm39) |
intron |
probably benign |
|
|
R7175:Otulinl
|
UTSW |
15 |
27,658,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Otulinl
|
UTSW |
15 |
27,658,273 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7305:Otulinl
|
UTSW |
15 |
27,658,319 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8346:Otulinl
|
UTSW |
15 |
27,664,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:Otulinl
|
UTSW |
15 |
27,664,818 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8878:Otulinl
|
UTSW |
15 |
27,664,884 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0025:Otulinl
|
UTSW |
15 |
27,660,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTGTCCTGTCATGCTC -3'
(R):5'- CTTACTTTTAAGGGCAGAGAAGGG -3'
Sequencing Primer
(F):5'- TCACTTGAGGGACTGACCACATTAG -3'
(R):5'- TTTTAAGGGCAGAGAAGGGTCCAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation