Incidental Mutation 'IGL00913:Rnft2'
ID |
27402 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnft2
|
Ensembl Gene |
ENSMUSG00000032850 |
Gene Name |
ring finger protein, transmembrane 2 |
Synonyms |
Tmem118, B830028P19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00913
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
118328801-118383181 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 118339280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 380
(T380M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117177]
[ENSMUST00000121369]
|
AlphaFold |
Q3UF64 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117177
AA Change: T380M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112903 Gene: ENSMUSG00000032850 AA Change: T380M
Domain | Start | End | E-Value | Type |
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
transmembrane domain
|
185 |
204 |
N/A |
INTRINSIC |
transmembrane domain
|
216 |
238 |
N/A |
INTRINSIC |
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
RING
|
386 |
423 |
3.58e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121369
AA Change: T379M
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113749 Gene: ENSMUSG00000032850 AA Change: T379M
Domain | Start | End | E-Value | Type |
low complexity region
|
109 |
125 |
N/A |
INTRINSIC |
transmembrane domain
|
184 |
203 |
N/A |
INTRINSIC |
transmembrane domain
|
215 |
237 |
N/A |
INTRINSIC |
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
RING
|
385 |
422 |
3.58e-6 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132831
AA Change: T6M
|
SMART Domains |
Protein: ENSMUSP00000120464 Gene: ENSMUSG00000032850 AA Change: T6M
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134281
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
A |
G |
17: 42,977,793 (GRCm39) |
S517P |
possibly damaging |
Het |
Arl4c |
T |
C |
1: 88,629,106 (GRCm39) |
D94G |
probably damaging |
Het |
Bag5 |
T |
C |
12: 111,677,766 (GRCm39) |
E19G |
probably damaging |
Het |
Carf |
T |
A |
1: 60,187,114 (GRCm39) |
D537E |
probably benign |
Het |
Cd177 |
C |
A |
7: 24,455,620 (GRCm39) |
D301Y |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,121,301 (GRCm39) |
V1799I |
probably benign |
Het |
Cyp4x1 |
T |
A |
4: 114,970,060 (GRCm39) |
I356F |
probably benign |
Het |
F5 |
A |
T |
1: 164,032,465 (GRCm39) |
H1804L |
probably damaging |
Het |
Fras1 |
G |
T |
5: 96,842,935 (GRCm39) |
G1718C |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,269,933 (GRCm39) |
|
probably benign |
Het |
Hs3st5 |
A |
G |
10: 36,708,846 (GRCm39) |
D127G |
probably damaging |
Het |
Inpp5a |
A |
G |
7: 139,096,637 (GRCm39) |
D154G |
probably benign |
Het |
Kif16b |
T |
A |
2: 142,545,927 (GRCm39) |
R1134* |
probably null |
Het |
Lrrc66 |
C |
T |
5: 73,765,499 (GRCm39) |
A515T |
possibly damaging |
Het |
Map3k10 |
C |
T |
7: 27,362,640 (GRCm39) |
|
probably benign |
Het |
Mideas |
T |
A |
12: 84,219,632 (GRCm39) |
I441L |
probably benign |
Het |
Mrpl12 |
G |
A |
11: 120,376,202 (GRCm39) |
D71N |
possibly damaging |
Het |
Nfix |
A |
T |
8: 85,453,106 (GRCm39) |
V316E |
probably damaging |
Het |
Nop2 |
A |
G |
6: 125,116,784 (GRCm39) |
Y346C |
probably damaging |
Het |
Nrbp1 |
A |
G |
5: 31,408,403 (GRCm39) |
E513G |
possibly damaging |
Het |
Ogfrl1 |
T |
C |
1: 23,409,171 (GRCm39) |
I352V |
probably benign |
Het |
Or7a35 |
A |
G |
10: 78,854,085 (GRCm39) |
T310A |
probably benign |
Het |
Or8b48 |
T |
A |
9: 38,492,672 (GRCm39) |
V33E |
probably damaging |
Het |
Oxr1 |
G |
A |
15: 41,683,539 (GRCm39) |
V15I |
possibly damaging |
Het |
Pik3r6 |
T |
G |
11: 68,442,147 (GRCm39) |
F697C |
probably damaging |
Het |
Ptk2 |
A |
G |
15: 73,167,238 (GRCm39) |
|
probably benign |
Het |
Scel |
A |
G |
14: 103,819,245 (GRCm39) |
N346S |
probably benign |
Het |
Sema4a |
T |
A |
3: 88,357,117 (GRCm39) |
T153S |
probably damaging |
Het |
Serinc2 |
A |
T |
4: 130,158,201 (GRCm39) |
L82Q |
possibly damaging |
Het |
Sin3a |
A |
G |
9: 57,005,402 (GRCm39) |
T392A |
probably benign |
Het |
Slc25a38 |
T |
A |
9: 119,949,373 (GRCm39) |
Y108* |
probably null |
Het |
Tmc8 |
G |
A |
11: 117,677,330 (GRCm39) |
G317R |
probably damaging |
Het |
Trpc3 |
A |
G |
3: 36,694,788 (GRCm39) |
V722A |
possibly damaging |
Het |
Unc93a2 |
A |
T |
17: 7,637,138 (GRCm39) |
V130D |
probably damaging |
Het |
|
Other mutations in Rnft2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02063:Rnft2
|
APN |
5 |
118,380,587 (GRCm39) |
splice site |
probably benign |
|
R0201:Rnft2
|
UTSW |
5 |
118,332,745 (GRCm39) |
splice site |
probably benign |
|
R0349:Rnft2
|
UTSW |
5 |
118,339,450 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1167:Rnft2
|
UTSW |
5 |
118,366,947 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1865:Rnft2
|
UTSW |
5 |
118,370,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Rnft2
|
UTSW |
5 |
118,332,670 (GRCm39) |
intron |
probably benign |
|
R2876:Rnft2
|
UTSW |
5 |
118,331,686 (GRCm39) |
missense |
probably damaging |
0.99 |
R4622:Rnft2
|
UTSW |
5 |
118,370,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R4623:Rnft2
|
UTSW |
5 |
118,370,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R4705:Rnft2
|
UTSW |
5 |
118,366,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R4796:Rnft2
|
UTSW |
5 |
118,339,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R4898:Rnft2
|
UTSW |
5 |
118,375,507 (GRCm39) |
missense |
probably benign |
0.02 |
R5407:Rnft2
|
UTSW |
5 |
118,380,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R5860:Rnft2
|
UTSW |
5 |
118,366,868 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6875:Rnft2
|
UTSW |
5 |
118,366,883 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6971:Rnft2
|
UTSW |
5 |
118,332,635 (GRCm39) |
intron |
probably benign |
|
R8266:Rnft2
|
UTSW |
5 |
118,375,623 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8690:Rnft2
|
UTSW |
5 |
118,366,935 (GRCm39) |
missense |
probably benign |
0.01 |
R9371:Rnft2
|
UTSW |
5 |
118,340,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R9574:Rnft2
|
UTSW |
5 |
118,375,330 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-04-17 |