Incidental Mutation 'IGL01691:Rftn2'
| ID |
104117 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rftn2
|
| Ensembl Gene |
ENSMUSG00000025978 |
| Gene Name |
raftlin family member 2 |
| Synonyms |
3222401M22Rik, 2700010E02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01691
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
55209318-55265941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55253445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 53
(V53I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027121]
[ENSMUST00000114428]
[ENSMUST00000132055]
|
| AlphaFold |
Q8CHX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027121
AA Change: V53I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: V53I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
439 |
2e-180 |
PFAM |
|
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114428
AA Change: V53I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110071
Gene: ENSMUSG00000025978
AA Change: V53I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
319 |
8.4e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132055
|
| Meta Mutation Damage Score |
0.0998 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(12) : Targeted, other(2) Gene trapped(10)
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
T |
A |
3: 32,774,349 (GRCm39) |
M282K |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,142,742 (GRCm39) |
N831S |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,810,556 (GRCm39) |
R200Q |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,567,271 (GRCm39) |
I531V |
probably benign |
Het |
| Btrc |
T |
A |
19: 45,501,117 (GRCm39) |
D223E |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,250,761 (GRCm39) |
E161V |
probably damaging |
Het |
| Cd38 |
G |
A |
5: 44,060,928 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
C |
6: 129,161,185 (GRCm39) |
F94S |
probably damaging |
Het |
| Cwf19l1 |
C |
T |
19: 44,109,311 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,430,269 (GRCm39) |
N96K |
probably benign |
Het |
| Ephb6 |
G |
A |
6: 41,591,449 (GRCm39) |
R202H |
probably benign |
Het |
| Gm43191 |
T |
A |
3: 116,471,616 (GRCm39) |
I218L |
probably benign |
Het |
| Gm7168 |
G |
A |
17: 14,169,140 (GRCm39) |
S169N |
probably damaging |
Het |
| Gm7964 |
T |
C |
7: 83,405,344 (GRCm39) |
|
noncoding transcript |
Het |
| Kif20b |
T |
C |
19: 34,913,143 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,702,089 (GRCm39) |
T906A |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 25,004,221 (GRCm39) |
N341D |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,292,907 (GRCm39) |
V554A |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,815,634 (GRCm39) |
T384A |
possibly damaging |
Het |
| Or1af1 |
G |
T |
2: 37,110,038 (GRCm39) |
C179F |
probably damaging |
Het |
| Or8g18 |
G |
A |
9: 39,149,315 (GRCm39) |
T135I |
probably benign |
Het |
| Ptpn5 |
G |
T |
7: 46,732,906 (GRCm39) |
H312Q |
probably benign |
Het |
| Rgs20 |
T |
C |
1: 4,987,145 (GRCm39) |
T124A |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,313,143 (GRCm39) |
S58G |
possibly damaging |
Het |
| Togaram2 |
A |
G |
17: 72,036,485 (GRCm39) |
M1012V |
probably null |
Het |
| Usp48 |
A |
T |
4: 137,350,583 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rftn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Rftn2
|
APN |
1 |
55,243,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Rftn2
|
APN |
1 |
55,245,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02458:Rftn2
|
APN |
1 |
55,250,351 (GRCm39) |
nonsense |
probably null |
|
|
1mM(1):Rftn2
|
UTSW |
1 |
55,245,754 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0446:Rftn2
|
UTSW |
1 |
55,253,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1167:Rftn2
|
UTSW |
1 |
55,243,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1172:Rftn2
|
UTSW |
1 |
55,250,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4171:Rftn2
|
UTSW |
1 |
55,253,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4350:Rftn2
|
UTSW |
1 |
55,233,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4487:Rftn2
|
UTSW |
1 |
55,241,311 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4833:Rftn2
|
UTSW |
1 |
55,253,399 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4863:Rftn2
|
UTSW |
1 |
55,211,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5719:Rftn2
|
UTSW |
1 |
55,253,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6801:Rftn2
|
UTSW |
1 |
55,233,418 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6937:Rftn2
|
UTSW |
1 |
55,233,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6939:Rftn2
|
UTSW |
1 |
55,233,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7344:Rftn2
|
UTSW |
1 |
55,265,311 (GRCm39) |
nonsense |
probably null |
|
|
R7401:Rftn2
|
UTSW |
1 |
55,233,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7517:Rftn2
|
UTSW |
1 |
55,234,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:Rftn2
|
UTSW |
1 |
55,253,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9207:Rftn2
|
UTSW |
1 |
55,224,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9501:Rftn2
|
UTSW |
1 |
55,241,355 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0022:Rftn2
|
UTSW |
1 |
55,253,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2014-01-21 |
Incidental Mutation