Incidental Mutation 'IGL02980:Rnf145'
ID |
392145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf145
|
Ensembl Gene |
ENSMUSG00000019189 |
Gene Name |
ring finger protein 145 |
Synonyms |
3732413I11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
IGL02980 (G1)
|
Quality Score |
133 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
44409791-44456347 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44452484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 488
(M488V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019333]
|
AlphaFold |
Q5SWK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019333
AA Change: M488V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000019333 Gene: ENSMUSG00000019189 AA Change: M488V
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 |
noncoding transcript
Transcript: ENSMUST00000129676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150257
|
Meta Mutation Damage Score |
0.0738 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Adam28 |
A |
T |
14: 68,857,255 (GRCm39) |
S584T |
probably benign |
Het |
Akap1 |
A |
T |
11: 88,735,990 (GRCm39) |
I224N |
probably benign |
Het |
Ankdd1b |
C |
T |
13: 96,572,448 (GRCm39) |
R214Q |
probably benign |
Het |
Armt1 |
A |
G |
10: 4,400,643 (GRCm39) |
|
probably benign |
Het |
C1rl |
T |
C |
6: 124,485,487 (GRCm39) |
I286T |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,150,399 (GRCm39) |
T2528A |
probably damaging |
Het |
Col4a4 |
A |
G |
1: 82,447,198 (GRCm39) |
|
probably null |
Het |
Dag1 |
A |
G |
9: 108,095,237 (GRCm39) |
I85T |
probably benign |
Het |
Elf2 |
A |
G |
3: 51,172,379 (GRCm39) |
V86A |
possibly damaging |
Het |
Emsy |
T |
C |
7: 98,268,587 (GRCm39) |
T485A |
probably damaging |
Het |
Fam169a |
T |
C |
13: 97,250,188 (GRCm39) |
|
probably null |
Het |
Hsd17b4 |
A |
G |
18: 50,279,585 (GRCm39) |
H188R |
probably benign |
Het |
Ighv9-2 |
C |
T |
12: 114,072,839 (GRCm39) |
V45M |
probably damaging |
Het |
Kifbp |
A |
C |
10: 62,394,947 (GRCm39) |
L565W |
probably damaging |
Het |
Lama3 |
C |
T |
18: 12,686,288 (GRCm39) |
L2784F |
probably benign |
Het |
Ms4a4c |
G |
T |
19: 11,393,747 (GRCm39) |
A64S |
probably benign |
Het |
Nudt22 |
A |
G |
19: 6,970,500 (GRCm39) |
L280P |
probably damaging |
Het |
Oscar |
T |
C |
7: 3,614,062 (GRCm39) |
|
probably benign |
Het |
Paics |
A |
G |
5: 77,114,102 (GRCm39) |
I321V |
probably benign |
Het |
Pappa |
A |
T |
4: 65,226,011 (GRCm39) |
H1288L |
probably benign |
Het |
Pla2r1 |
T |
C |
2: 60,345,390 (GRCm39) |
E322G |
possibly damaging |
Het |
Poldip2 |
T |
A |
11: 78,412,054 (GRCm39) |
M330K |
probably damaging |
Het |
Potefam1 |
G |
A |
2: 110,994,818 (GRCm39) |
H232Y |
unknown |
Het |
Recql5 |
T |
C |
11: 115,784,770 (GRCm39) |
|
probably null |
Het |
Rrp1b |
T |
A |
17: 32,269,013 (GRCm39) |
D170E |
possibly damaging |
Het |
Slamf7 |
T |
C |
1: 171,468,566 (GRCm39) |
S109G |
possibly damaging |
Het |
Slf1 |
A |
G |
13: 77,192,123 (GRCm39) |
S904P |
possibly damaging |
Het |
St7 |
C |
A |
6: 17,749,545 (GRCm39) |
|
probably benign |
Het |
Stk25 |
A |
G |
1: 93,555,390 (GRCm39) |
S102P |
probably damaging |
Het |
Supt6 |
C |
T |
11: 78,116,548 (GRCm39) |
A659T |
probably damaging |
Het |
Tdrp |
A |
C |
8: 14,003,918 (GRCm39) |
S140A |
probably damaging |
Het |
Thbs3 |
A |
G |
3: 89,130,451 (GRCm39) |
N527D |
probably benign |
Het |
Tsnaxip1 |
G |
T |
8: 106,568,842 (GRCm39) |
V444L |
probably damaging |
Het |
U2af2 |
A |
G |
7: 5,071,042 (GRCm39) |
I116V |
probably benign |
Het |
Zfp931 |
C |
A |
2: 177,711,409 (GRCm39) |
|
probably null |
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 |
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 |
R5701: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'- CTCAGGGAGAATGCTTTTCTTATG -3'
(R):5'- TGACCTATCAGCAGACTCCC -3'
Sequencing Primer
(F):5'- GGGAGAATGCTTTTCTTATGATCAC -3'
(R):5'- AGACTCCCCCTGAGCAG -3'
|
Posted On |
2016-06-09 |