Incidental Mutation 'R8536:Rnf145'
| ID |
659251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf145
|
| Ensembl Gene |
ENSMUSG00000019189 |
| Gene Name |
ring finger protein 145 |
| Synonyms |
3732413I11Rik |
| MMRRC Submission |
067890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R8536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
44409791-44456347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44450942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 422
(L422P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019333]
|
| AlphaFold |
Q5SWK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019333
AA Change: L422P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019333
Gene: ENSMUSG00000019189
AA Change: L422P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,217 (GRCm39) |
V217M |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,973,394 (GRCm39) |
Q1074R |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,170,718 (GRCm39) |
|
probably benign |
Het |
| Acox2 |
A |
T |
14: 8,256,081 (GRCm38) |
D79E |
probably benign |
Het |
| Bpifb9b |
A |
G |
2: 154,158,197 (GRCm39) |
I440V |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,516,601 (GRCm39) |
T118S |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,875,286 (GRCm39) |
I240T |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,208,536 (GRCm39) |
|
probably null |
Het |
| Cox18 |
A |
G |
5: 90,362,877 (GRCm39) |
F326S |
probably damaging |
Het |
| Dnm1l |
C |
A |
16: 16,176,639 (GRCm39) |
V31L |
probably benign |
Het |
| Dst |
C |
A |
1: 34,236,327 (GRCm39) |
L3578M |
possibly damaging |
Het |
| Fbxw24 |
G |
A |
9: 109,452,599 (GRCm39) |
T132I |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,100,823 (GRCm39) |
V120A |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,706,643 (GRCm39) |
E396G |
probably damaging |
Het |
| Fryl |
G |
T |
5: 73,257,696 (GRCm39) |
T702K |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,868 (GRCm39) |
I208F |
probably damaging |
Het |
| Gzmd |
T |
C |
14: 56,367,158 (GRCm39) |
I245V |
probably damaging |
Het |
| Lats2 |
G |
A |
14: 57,940,495 (GRCm39) |
A119V |
probably damaging |
Het |
| Lztfl1 |
A |
T |
9: 123,540,119 (GRCm39) |
F129L |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,490,787 (GRCm39) |
N320S |
probably benign |
Het |
| Mmp2 |
A |
T |
8: 93,557,253 (GRCm39) |
Y53F |
probably damaging |
Het |
| Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
| Ndufa8 |
A |
C |
2: 35,939,312 (GRCm39) |
|
probably benign |
Het |
| Nek11 |
A |
T |
9: 105,175,538 (GRCm39) |
M302K |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,404,797 (GRCm39) |
|
probably null |
Het |
| Numa1 |
C |
T |
7: 101,650,787 (GRCm39) |
A1506V |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,869,522 (GRCm39) |
|
probably null |
Het |
| Poteg |
C |
A |
8: 27,938,048 (GRCm39) |
T6K |
probably benign |
Het |
| Rbm26 |
A |
T |
14: 105,380,274 (GRCm39) |
N514K |
possibly damaging |
Het |
| Scn5a |
G |
T |
9: 119,368,811 (GRCm39) |
T238K |
probably damaging |
Het |
| Shd |
G |
A |
17: 56,283,315 (GRCm39) |
A315T |
probably damaging |
Het |
| Sirpd |
A |
G |
3: 15,361,614 (GRCm39) |
*179R |
probably null |
Het |
| Slco5a1 |
T |
G |
1: 12,951,525 (GRCm39) |
T593P |
possibly damaging |
Het |
| Stard9 |
G |
A |
2: 120,545,140 (GRCm39) |
R4560H |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,876,823 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
G |
C |
7: 63,897,155 (GRCm39) |
K252N |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,339,803 (GRCm39) |
I584K |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,535 (GRCm39) |
V214A |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 102,033,064 (GRCm39) |
H2215Q |
probably benign |
Het |
| Wls |
G |
A |
3: 159,578,748 (GRCm39) |
M103I |
probably damaging |
Het |
| Zmat4 |
T |
C |
8: 24,238,523 (GRCm39) |
|
probably null |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
probably damaging |
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 |
|
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 |
|
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'- GAGGAATCAGTTTGTGAACGGC -3'
(R):5'- CTAGTATCTTCATGACATGCAAGTCTC -3'
Sequencing Primer
(F):5'- ACGGCTTGACTGTAAGACTC -3'
(R):5'- CTCATACTTGCAATCATGAAGACAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation