Incidental Mutation 'R5701:Rnf145'
ID |
450900 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf145
|
Ensembl Gene |
ENSMUSG00000019189 |
Gene Name |
ring finger protein 145 |
Synonyms |
3732413I11Rik |
MMRRC Submission |
043181-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
R5701 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
44409791-44456347 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 44422120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 68
(V68M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019333]
[ENSMUST00000101327]
|
AlphaFold |
Q5SWK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019333
AA Change: V68M
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000019333 Gene: ENSMUSG00000019189 AA Change: V68M
Domain | Start | End | E-Value | Type |
Pfam:TRC8_N
|
8 |
506 |
2.8e-156 |
PFAM |
RING
|
537 |
574 |
2.12e-8 |
SMART |
low complexity region
|
590 |
601 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101327
AA Change: V68M
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000098881 Gene: ENSMUSG00000019189 AA Change: V68M
Domain | Start | End | E-Value | Type |
Pfam:TRC8_N
|
7 |
266 |
1.2e-70 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124959
|
Meta Mutation Damage Score |
0.2024 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
Asxl1 |
A |
G |
2: 153,241,409 (GRCm39) |
E653G |
probably damaging |
Het |
AW551984 |
G |
A |
9: 39,504,118 (GRCm39) |
A616V |
probably benign |
Het |
Birc6 |
T |
C |
17: 75,004,420 (GRCm39) |
M4763T |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 36,975,509 (GRCm39) |
M727K |
probably benign |
Het |
Cand2 |
T |
G |
6: 115,774,893 (GRCm39) |
F1034V |
probably damaging |
Het |
Ccdc80 |
T |
C |
16: 44,936,741 (GRCm39) |
V722A |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Chrnd |
G |
A |
1: 87,125,380 (GRCm39) |
V340I |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,751,366 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,513,617 (GRCm39) |
E1920G |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 48,403,729 (GRCm39) |
F194I |
probably damaging |
Het |
D930048N14Rik |
T |
A |
11: 51,544,556 (GRCm39) |
|
probably null |
Het |
Defa28 |
T |
C |
8: 22,073,863 (GRCm39) |
Y89H |
probably benign |
Het |
Dnah1 |
C |
T |
14: 30,996,001 (GRCm39) |
G2705E |
probably damaging |
Het |
Eci2 |
A |
T |
13: 35,174,250 (GRCm39) |
S104T |
possibly damaging |
Het |
Ep300 |
T |
C |
15: 81,485,696 (GRCm39) |
S228P |
unknown |
Het |
Gabrb2 |
T |
A |
11: 42,378,201 (GRCm39) |
M139K |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,266,265 (GRCm39) |
N592I |
possibly damaging |
Het |
Gpr158 |
C |
T |
2: 21,751,520 (GRCm39) |
R480C |
probably damaging |
Het |
Gps1 |
A |
G |
11: 120,676,008 (GRCm39) |
D71G |
probably benign |
Het |
Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
Il9r |
T |
A |
11: 32,143,263 (GRCm39) |
Y231F |
probably benign |
Het |
Klhl1 |
A |
G |
14: 96,438,816 (GRCm39) |
M494T |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,519,015 (GRCm39) |
V2365A |
probably benign |
Het |
Kri1 |
T |
A |
9: 21,192,425 (GRCm39) |
K241M |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,397,018 (GRCm39) |
C928S |
probably damaging |
Het |
Mcm2 |
T |
C |
6: 88,870,073 (GRCm39) |
D32G |
probably damaging |
Het |
Mex3d |
T |
C |
10: 80,217,379 (GRCm39) |
T613A |
probably benign |
Het |
Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
Myh9 |
T |
C |
15: 77,675,964 (GRCm39) |
I241V |
probably benign |
Het |
Myo6 |
C |
T |
9: 80,165,809 (GRCm39) |
T398I |
probably damaging |
Het |
Nckap1l |
G |
A |
15: 103,381,195 (GRCm39) |
A366T |
probably benign |
Het |
Or5m11 |
A |
G |
2: 85,782,168 (GRCm39) |
T254A |
possibly damaging |
Het |
Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
Rapgef6 |
T |
C |
11: 54,567,220 (GRCm39) |
W857R |
possibly damaging |
Het |
Raxos1 |
G |
A |
18: 66,071,059 (GRCm39) |
|
probably benign |
Het |
Slc66a2 |
T |
A |
18: 80,315,693 (GRCm39) |
D118E |
possibly damaging |
Het |
Synpo2 |
C |
G |
3: 122,873,879 (GRCm39) |
G1029A |
probably damaging |
Het |
Tbc1d5 |
TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
17: 51,106,983 (GRCm39) |
|
probably benign |
Het |
Vmn2r14 |
T |
C |
5: 109,367,816 (GRCm39) |
Y392C |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,404,492 (GRCm39) |
F304L |
probably benign |
Het |
Zfp316 |
C |
T |
5: 143,240,132 (GRCm39) |
G629D |
probably benign |
Het |
|
Other mutations in Rnf145 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Rnf145
|
APN |
11 |
44,446,039 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02972:Rnf145
|
APN |
11 |
44,454,865 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03168:Rnf145
|
APN |
11 |
44,445,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03185:Rnf145
|
APN |
11 |
44,422,157 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02980:Rnf145
|
UTSW |
11 |
44,452,484 (GRCm39) |
missense |
probably benign |
|
R0112:Rnf145
|
UTSW |
11 |
44,454,978 (GRCm39) |
missense |
probably benign |
|
R0346:Rnf145
|
UTSW |
11 |
44,445,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R0415:Rnf145
|
UTSW |
11 |
44,415,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R0452:Rnf145
|
UTSW |
11 |
44,452,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R0487:Rnf145
|
UTSW |
11 |
44,446,056 (GRCm39) |
missense |
probably benign |
0.21 |
R0598:Rnf145
|
UTSW |
11 |
44,439,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Rnf145
|
UTSW |
11 |
44,450,851 (GRCm39) |
missense |
probably damaging |
0.99 |
R0837:Rnf145
|
UTSW |
11 |
44,415,815 (GRCm39) |
missense |
probably benign |
0.00 |
R1611:Rnf145
|
UTSW |
11 |
44,442,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Rnf145
|
UTSW |
11 |
44,439,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Rnf145
|
UTSW |
11 |
44,452,293 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2157:Rnf145
|
UTSW |
11 |
44,445,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R2340:Rnf145
|
UTSW |
11 |
44,422,205 (GRCm39) |
missense |
probably benign |
0.04 |
R3855:Rnf145
|
UTSW |
11 |
44,422,120 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4483:Rnf145
|
UTSW |
11 |
44,455,104 (GRCm39) |
missense |
probably benign |
0.10 |
R4564:Rnf145
|
UTSW |
11 |
44,439,635 (GRCm39) |
missense |
probably benign |
0.25 |
R4922:Rnf145
|
UTSW |
11 |
44,448,063 (GRCm39) |
unclassified |
probably benign |
|
R5633:Rnf145
|
UTSW |
11 |
44,450,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R5672:Rnf145
|
UTSW |
11 |
44,422,120 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5673:Rnf145
|
UTSW |
11 |
44,422,120 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5915:Rnf145
|
UTSW |
11 |
44,433,549 (GRCm39) |
critical splice donor site |
probably null |
|
R6128:Rnf145
|
UTSW |
11 |
44,446,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R6502:Rnf145
|
UTSW |
11 |
44,415,932 (GRCm39) |
missense |
probably damaging |
0.98 |
R6717:Rnf145
|
UTSW |
11 |
44,452,317 (GRCm39) |
missense |
probably benign |
0.00 |
R6963:Rnf145
|
UTSW |
11 |
44,455,104 (GRCm39) |
missense |
probably benign |
0.10 |
R7035:Rnf145
|
UTSW |
11 |
44,452,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R7154:Rnf145
|
UTSW |
11 |
44,415,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:Rnf145
|
UTSW |
11 |
44,439,623 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7639:Rnf145
|
UTSW |
11 |
44,422,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R8074:Rnf145
|
UTSW |
11 |
44,448,263 (GRCm39) |
missense |
probably damaging |
0.98 |
R8536:Rnf145
|
UTSW |
11 |
44,450,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R8861:Rnf145
|
UTSW |
11 |
44,445,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R9123:Rnf145
|
UTSW |
11 |
44,450,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R9125:Rnf145
|
UTSW |
11 |
44,450,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R9172:Rnf145
|
UTSW |
11 |
44,448,262 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9520:Rnf145
|
UTSW |
11 |
44,452,336 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9711:Rnf145
|
UTSW |
11 |
44,415,830 (GRCm39) |
nonsense |
probably null |
|
R9801:Rnf145
|
UTSW |
11 |
44,448,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTGCAGCTAATTATAAAGCAG -3'
(R):5'- GCAACCTACCTAAGCCTTAACTTTG -3'
Sequencing Primer
(F):5'- CTAATTATAAAGCAGAAAGATGGCGC -3'
(R):5'- ACACTATGTTGACATTAAAAACCAAC -3'
|
Posted On |
2017-01-03 |