Incidental Mutation 'R6717:Rnf145'
ID |
529445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf145
|
Ensembl Gene |
ENSMUSG00000019189 |
Gene Name |
ring finger protein 145 |
Synonyms |
3732413I11Rik |
MMRRC Submission |
044835-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R6717 (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 44452317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 432
(V432A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019333]
|
AlphaFold |
Q5SWK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019333
AA Change: V432A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000019333 Gene: ENSMUSG00000019189 AA Change: V432A
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
C |
T |
5: 4,114,086 (GRCm39) |
L3122F |
probably damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,730,632 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
T |
18: 22,153,946 (GRCm39) |
V621E |
probably damaging |
Het |
Cfap126 |
T |
C |
1: 170,941,671 (GRCm39) |
|
probably null |
Het |
Cog2 |
T |
C |
8: 125,252,488 (GRCm39) |
I64T |
probably damaging |
Het |
Dhx9 |
A |
C |
1: 153,349,210 (GRCm39) |
|
probably null |
Het |
Efcab7 |
A |
G |
4: 99,761,931 (GRCm39) |
D407G |
possibly damaging |
Het |
Eif2b5 |
G |
T |
16: 20,324,033 (GRCm39) |
G459C |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,793,765 (GRCm39) |
E1168G |
probably damaging |
Het |
Flnc |
AGCTGTCAAGTATGCTG |
AGCTG |
6: 29,450,901 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
G |
5: 150,419,777 (GRCm39) |
T980A |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,787,574 (GRCm39) |
V363A |
possibly damaging |
Het |
Ggt6 |
T |
A |
11: 72,328,346 (GRCm39) |
L244* |
probably null |
Het |
Gprc6a |
T |
A |
10: 51,491,233 (GRCm39) |
I768F |
probably damaging |
Het |
Grk1 |
G |
A |
8: 13,466,237 (GRCm39) |
M560I |
probably benign |
Het |
Hapln4 |
G |
A |
8: 70,537,740 (GRCm39) |
E145K |
probably damaging |
Het |
Hoxd9 |
C |
T |
2: 74,528,733 (GRCm39) |
P112S |
probably benign |
Het |
Ly6g6f |
T |
A |
17: 35,304,550 (GRCm39) |
M1L |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,644,383 (GRCm39) |
T849A |
probably benign |
Het |
Mob4 |
A |
T |
1: 55,175,872 (GRCm39) |
M39L |
possibly damaging |
Het |
Mrgpre |
A |
T |
7: 143,335,260 (GRCm39) |
L81Q |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,957,774 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
T |
7: 141,411,559 (GRCm39) |
R1502* |
probably null |
Het |
Or4b13 |
T |
A |
2: 90,082,868 (GRCm39) |
I155L |
probably benign |
Het |
Or5ap2 |
T |
A |
2: 85,680,567 (GRCm39) |
I257N |
probably damaging |
Het |
Or9e1 |
T |
C |
11: 58,732,113 (GRCm39) |
Y58H |
probably damaging |
Het |
Pdc |
A |
G |
1: 150,208,769 (GRCm39) |
D84G |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,114,523 (GRCm39) |
N443D |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,341,401 (GRCm39) |
W85R |
unknown |
Het |
Pramel31 |
G |
T |
4: 144,089,227 (GRCm39) |
V182L |
probably benign |
Het |
Rfc1 |
G |
A |
5: 65,459,347 (GRCm39) |
Q190* |
probably null |
Het |
Rfc1 |
A |
G |
5: 65,470,304 (GRCm39) |
S68P |
probably damaging |
Het |
Ror2 |
A |
G |
13: 53,273,018 (GRCm39) |
S204P |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
Slc2a8 |
A |
C |
2: 32,866,189 (GRCm39) |
M277R |
probably damaging |
Het |
Slc4a1 |
T |
C |
11: 102,245,249 (GRCm39) |
Y566C |
probably damaging |
Het |
Slc6a12 |
A |
G |
6: 121,331,262 (GRCm39) |
N185S |
probably benign |
Het |
Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
Stk33 |
T |
A |
7: 108,926,823 (GRCm39) |
T279S |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,379,015 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,599,561 (GRCm39) |
T516A |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,641,093 (GRCm39) |
L1088Q |
possibly damaging |
Het |
Tmem132d |
T |
A |
5: 127,861,485 (GRCm39) |
M879L |
probably benign |
Het |
Tnk2 |
A |
G |
16: 32,489,687 (GRCm39) |
E322G |
probably damaging |
Het |
Ttc28 |
T |
C |
5: 111,433,302 (GRCm39) |
V2081A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,624,753 (GRCm39) |
|
probably null |
Het |
Zfp105 |
T |
C |
9: 122,759,373 (GRCm39) |
V348A |
possibly damaging |
Het |
Zswim2 |
T |
C |
2: 83,745,753 (GRCm39) |
R562G |
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 |
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 |
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'- CACTGCTTCTGAAGGTGCAG -3'
(R):5'- ACGAAGCCACACGTTGTAG -3'
Sequencing Primer
(F):5'- GCGTCTGCTCTCTCAGTAACTGG -3'
(R):5'- GCCACACGTTGTAGTAGGAATG -3'
|
Posted On |
2018-08-01 |