Incidental Mutation 'R0837:Rnf145'
| ID |
78005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf145
|
| Ensembl Gene |
ENSMUSG00000019189 |
| Gene Name |
ring finger protein 145 |
| Synonyms |
3732413I11Rik |
| MMRRC Submission |
039016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R0837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
44409791-44456347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44415815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 10
(V10A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019333]
[ENSMUST00000101327]
|
| AlphaFold |
Q5SWK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019333
AA Change: V10A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000019333
Gene: ENSMUSG00000019189
AA Change: V10A
| 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 |
probably benign
Transcript: ENSMUST00000101327
AA Change: V10A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098881
Gene: ENSMUSG00000019189
AA Change: V10A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRC8_N
|
7 |
266 |
1.2e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127907
|
| Meta Mutation Damage Score |
0.0699 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
C |
14: 60,333,375 (GRCm39) |
|
probably benign |
Het |
| 4930579C12Rik |
A |
G |
9: 89,050,260 (GRCm39) |
|
noncoding transcript |
Het |
| Adam34 |
T |
A |
8: 44,104,537 (GRCm39) |
K369N |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 110,577,697 (GRCm39) |
W481R |
probably damaging |
Het |
| Bicdl1 |
G |
A |
5: 115,869,351 (GRCm39) |
P26S |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,607,231 (GRCm39) |
C1224* |
probably null |
Het |
| Cpsf2 |
C |
T |
12: 101,963,501 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,725,490 (GRCm39) |
R210W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,877,495 (GRCm39) |
V1048I |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,077,979 (GRCm39) |
A2908S |
probably benign |
Het |
| Elane |
A |
G |
10: 79,722,942 (GRCm39) |
D116G |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,383,714 (GRCm39) |
R153C |
probably damaging |
Het |
| Gucy2c |
G |
A |
6: 136,699,418 (GRCm39) |
P617L |
probably damaging |
Het |
| H2ac21 |
G |
A |
3: 96,127,439 (GRCm39) |
A70T |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,604,058 (GRCm39) |
I106L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,823,458 (GRCm39) |
N931D |
possibly damaging |
Het |
| Mthfs |
A |
G |
9: 89,097,443 (GRCm39) |
E100G |
probably damaging |
Het |
| Mto1 |
A |
T |
9: 78,381,072 (GRCm39) |
I639F |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,378,077 (GRCm39) |
E177G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,367,251 (GRCm39) |
M282L |
probably benign |
Het |
| Or10aa1 |
A |
G |
1: 173,870,053 (GRCm39) |
D179G |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,903,425 (GRCm39) |
|
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,898,321 (GRCm39) |
M64L |
probably benign |
Het |
| Prnp |
A |
T |
2: 131,778,444 (GRCm39) |
N32I |
probably damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,287,174 (GRCm39) |
V406I |
probably benign |
Het |
| Rab40c |
G |
A |
17: 26,103,667 (GRCm39) |
T151I |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,304,495 (GRCm39) |
|
probably null |
Het |
| Rtn4rl2 |
T |
C |
2: 84,711,036 (GRCm39) |
N70S |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,766,326 (GRCm39) |
C483* |
probably null |
Het |
| Sema4a |
T |
A |
3: 88,360,405 (GRCm39) |
Q58L |
possibly damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,067 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
G |
T |
3: 102,822,561 (GRCm39) |
N364K |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,545,482 (GRCm39) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,417,141 (GRCm39) |
T537A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,753,596 (GRCm39) |
I573T |
possibly damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,559,632 (GRCm39) |
T420I |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,937,411 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,688,103 (GRCm39) |
C2367Y |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,521,366 (GRCm39) |
G135C |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,189 (GRCm39) |
Y327C |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
| Zfp804a |
A |
C |
2: 82,089,506 (GRCm39) |
T1112P |
probably damaging |
Het |
| Zfr2 |
A |
G |
10: 81,081,242 (GRCm39) |
K431E |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 725,850 (GRCm39) |
Y638* |
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 |
|
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 |
|
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'- TGAACCTGCCACACATCCATTACTG -3'
(R):5'- ACTCATCCATCGTGAAGCCAGAGC -3'
Sequencing Primer
(F):5'- GTGTGAATCACATTGAGGCAG -3'
(R):5'- CCAGAGCGCACATGCAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation