Incidental Mutation 'IGL00565:Rftn2'
| ID |
13809 |
| 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 # |
IGL00565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
55209318-55265941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 55243444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 275
(V275F)
|
| 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: V275F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: V275F
| 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: V275F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110071
Gene: ENSMUSG00000025978
AA Change: V275F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
319 |
8.4e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133294
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(12) : Targeted, other(2) Gene trapped(10)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
A |
7: 41,274,996 (GRCm39) |
T233K |
possibly damaging |
Het |
| Adamts9 |
A |
T |
6: 92,836,883 (GRCm39) |
M623K |
possibly damaging |
Het |
| Arid1a |
T |
G |
4: 133,412,793 (GRCm39) |
D1467A |
unknown |
Het |
| Cdhr2 |
A |
G |
13: 54,866,112 (GRCm39) |
D304G |
probably damaging |
Het |
| Cenpj |
C |
T |
14: 56,790,487 (GRCm39) |
V521I |
probably benign |
Het |
| Ciao2a |
A |
T |
9: 66,039,898 (GRCm39) |
I72L |
probably benign |
Het |
| Csf2rb |
G |
T |
15: 78,232,714 (GRCm39) |
E674* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,750,674 (GRCm39) |
|
probably benign |
Het |
| Edaradd |
C |
T |
13: 12,498,480 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
A |
G |
17: 71,559,854 (GRCm39) |
V1041A |
possibly damaging |
Het |
| Fam135b |
A |
G |
15: 71,343,361 (GRCm39) |
V418A |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,183,504 (GRCm39) |
|
probably benign |
Het |
| Grxcr1 |
A |
T |
5: 68,189,540 (GRCm39) |
N104Y |
possibly damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,001,723 (GRCm39) |
L146Q |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,181 (GRCm39) |
E791D |
probably damaging |
Het |
| Ifi203 |
A |
G |
1: 173,765,306 (GRCm39) |
|
probably null |
Het |
| Klk1b11 |
A |
G |
7: 43,649,243 (GRCm39) |
N260S |
probably damaging |
Het |
| LTO1 |
G |
T |
7: 144,470,220 (GRCm39) |
V50F |
probably damaging |
Het |
| Map4 |
A |
T |
9: 109,901,672 (GRCm39) |
|
probably benign |
Het |
| Marveld2 |
C |
T |
13: 100,737,401 (GRCm39) |
V163M |
possibly damaging |
Het |
| Med14 |
T |
C |
X: 12,613,003 (GRCm39) |
|
probably benign |
Het |
| Mex3b |
A |
T |
7: 82,518,116 (GRCm39) |
I144F |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,133,796 (GRCm39) |
C92* |
probably null |
Het |
| Phf6 |
T |
A |
X: 52,020,516 (GRCm39) |
Y103N |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,402,111 (GRCm39) |
I1039T |
probably damaging |
Het |
| Skap1 |
C |
A |
11: 96,621,971 (GRCm39) |
Q296K |
probably damaging |
Het |
| Skap1 |
T |
A |
11: 96,622,016 (GRCm39) |
F311I |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,741 (GRCm39) |
I70T |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,167,250 (GRCm39) |
D613G |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,943,877 (GRCm39) |
E290G |
probably benign |
Het |
|
| Other mutations in Rftn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01691:Rftn2
|
APN |
1 |
55,253,445 (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 |
2012-12-06 |
Incidental Mutation