Incidental Mutation 'R2876:Rnft2'
| ID |
260554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnft2
|
| Ensembl Gene |
ENSMUSG00000032850 |
| Gene Name |
ring finger protein, transmembrane 2 |
| Synonyms |
Tmem118, B830028P19Rik |
| MMRRC Submission |
040464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2876 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
118328801-118383181 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118331686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 417
(R417C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054836]
[ENSMUST00000117177]
[ENSMUST00000121369]
|
| AlphaFold |
Q3UF64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054836
|
| SMART Domains |
Protein: ENSMUSP00000057532
Gene: ENSMUSG00000046607
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Harakiri
|
1 |
92 |
4.4e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117177
AA Change: R418C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112903
Gene: ENSMUSG00000032850
AA Change: R418C
| 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: R417C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113749
Gene: ENSMUSG00000032850
AA Change: R417C
| 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 |
probably benign
Transcript: ENSMUST00000132831
|
| SMART Domains |
Protein: ENSMUSP00000120464
Gene: ENSMUSG00000032850
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134281
|
| Meta Mutation Damage Score |
0.2536 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,583,644 (GRCm39) |
Q235K |
possibly damaging |
Het |
| Abcc1 |
A |
T |
16: 14,275,824 (GRCm39) |
H906L |
probably benign |
Het |
| Acot6 |
T |
G |
12: 84,148,036 (GRCm39) |
D97E |
possibly damaging |
Het |
| Acvr2a |
T |
A |
2: 48,782,190 (GRCm39) |
M241K |
probably damaging |
Het |
| Adamts9 |
T |
C |
6: 92,772,891 (GRCm39) |
|
probably benign |
Het |
| Adgb |
T |
G |
10: 10,298,463 (GRCm39) |
T422P |
probably damaging |
Het |
| Adrm1 |
A |
G |
2: 179,817,411 (GRCm39) |
T293A |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,282,462 (GRCm39) |
V395A |
possibly damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,835,607 (GRCm39) |
M451V |
probably damaging |
Het |
| Ccdc152 |
T |
C |
15: 3,327,663 (GRCm39) |
N38S |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,143,275 (GRCm39) |
N3017K |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,390,841 (GRCm39) |
M997T |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,126,124 (GRCm39) |
E1344G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,292,069 (GRCm39) |
S573R |
probably benign |
Het |
| Ilvbl |
C |
A |
10: 78,418,890 (GRCm39) |
Q410K |
probably benign |
Het |
| Ints11 |
C |
A |
4: 155,971,882 (GRCm39) |
|
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,507,139 (GRCm39) |
|
probably benign |
Het |
| Lrrc27 |
C |
T |
7: 138,808,600 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,597,480 (GRCm39) |
A422V |
possibly damaging |
Het |
| Masp2 |
T |
A |
4: 148,692,458 (GRCm39) |
I317K |
probably benign |
Het |
| Or13n4 |
A |
T |
7: 106,423,664 (GRCm39) |
V23E |
probably benign |
Het |
| Or2ag18 |
C |
G |
7: 106,405,204 (GRCm39) |
S155T |
probably benign |
Het |
| Or5g26 |
A |
G |
2: 85,494,034 (GRCm39) |
V248A |
probably damaging |
Het |
| Papln |
T |
A |
12: 83,825,701 (GRCm39) |
S661T |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,185,414 (GRCm39) |
S229P |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,186,106 (GRCm39) |
S1688P |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,468,513 (GRCm39) |
T1005A |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,417 (GRCm39) |
V128A |
probably benign |
Het |
| Rhbdd1 |
A |
G |
1: 82,346,090 (GRCm39) |
D215G |
probably benign |
Het |
| Scn2a |
A |
C |
2: 65,546,241 (GRCm39) |
I935L |
possibly damaging |
Het |
| Sdc4 |
T |
C |
2: 164,273,211 (GRCm39) |
D33G |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,505,582 (GRCm39) |
S454P |
probably damaging |
Het |
| Spidr |
A |
T |
16: 15,730,453 (GRCm39) |
|
probably null |
Het |
| Srp72 |
T |
A |
5: 77,143,767 (GRCm39) |
|
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,725,597 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,750,684 (GRCm39) |
S3455N |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,852,356 (GRCm39) |
E868V |
probably damaging |
Het |
| Vmn2r89 |
G |
T |
14: 51,692,541 (GRCm39) |
G115C |
possibly damaging |
Het |
| Zbed6 |
C |
T |
1: 133,584,598 (GRCm39) |
C913Y |
probably damaging |
Het |
| Zscan29 |
T |
C |
2: 120,994,581 (GRCm39) |
Y468C |
probably damaging |
Het |
|
| Other mutations in Rnft2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Rnft2
|
APN |
5 |
118,339,280 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGGTGAGGTAGGACACAC -3'
(R):5'- TAAAGCTGATGGGGCTGCTG -3'
Sequencing Primer
(F):5'- GTAGGACACACACACTGTACTGG -3'
(R):5'- GTCTGTCGCCCCTCCTAGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation