Incidental Mutation 'IGL02318:Rftn1'
| ID |
288102 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rftn1
|
| Ensembl Gene |
ENSMUSG00000039316 |
| Gene Name |
raftlin lipid raft linker 1 |
| Synonyms |
2310015N21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL02318
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
50300287-50497525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50343998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 97
(I97V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044503]
[ENSMUST00000113195]
|
| AlphaFold |
Q6A0D4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044503
AA Change: I375V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: I375V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
473 |
1.3e-219 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113195
AA Change: I97V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
AA Change: I97V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
207 |
1.5e-104 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156094
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for null mutations have defects in T cell activation, T cell help to B cells, and Th17 differentation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
G |
5: 138,561,838 (GRCm39) |
F116S |
probably damaging |
Het |
| Abhd18 |
G |
A |
3: 40,884,662 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
G |
T |
13: 4,488,496 (GRCm39) |
C34F |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,386,695 (GRCm39) |
I180N |
possibly damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,969,294 (GRCm39) |
V217I |
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,223,989 (GRCm39) |
Q608R |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,170,627 (GRCm39) |
T1136A |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,604,250 (GRCm39) |
Y1323* |
probably null |
Het |
| Bsx |
A |
C |
9: 40,785,517 (GRCm39) |
Q15P |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,881,764 (GRCm39) |
I410V |
probably null |
Het |
| Cfhr4 |
T |
A |
1: 139,708,835 (GRCm39) |
E24D |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,648,952 (GRCm39) |
D945G |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,150,043 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
A |
G |
15: 8,204,509 (GRCm39) |
K96E |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,270,699 (GRCm39) |
D305G |
possibly damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,439,444 (GRCm39) |
T33A |
probably benign |
Het |
| Dvl3 |
A |
G |
16: 20,342,493 (GRCm39) |
R149G |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,163,446 (GRCm39) |
I1624V |
possibly damaging |
Het |
| Echs1 |
A |
T |
7: 139,691,623 (GRCm39) |
L167Q |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,192,868 (GRCm39) |
N358K |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,748,795 (GRCm39) |
I230V |
probably benign |
Het |
| Fut10 |
A |
G |
8: 31,726,286 (GRCm39) |
Y347C |
probably damaging |
Het |
| Gfm2 |
C |
A |
13: 97,299,483 (GRCm39) |
N401K |
probably damaging |
Het |
| Gm4795 |
C |
T |
10: 44,882,735 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
A |
7: 40,936,212 (GRCm39) |
T238N |
probably benign |
Het |
| Gm9892 |
T |
C |
8: 52,649,260 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
G |
T |
18: 10,469,388 (GRCm39) |
M134I |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 113,085,669 (GRCm39) |
Y314H |
probably damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,669 (GRCm39) |
I215T |
probably damaging |
Het |
| Ilkap |
A |
G |
1: 91,312,960 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
T |
C |
1: 37,407,384 (GRCm39) |
Y233H |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,137,502 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
C |
T |
11: 94,183,819 (GRCm39) |
R440Q |
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,205,515 (GRCm39) |
I219S |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,806,768 (GRCm39) |
E1581K |
probably damaging |
Het |
| Nfs1 |
T |
A |
2: 155,966,191 (GRCm39) |
Q458L |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,878,692 (GRCm39) |
|
probably null |
Het |
| Nxf1 |
G |
A |
19: 8,741,514 (GRCm39) |
|
probably null |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or52z1 |
A |
G |
7: 103,437,475 (GRCm39) |
V3A |
probably benign |
Het |
| Pacc1 |
A |
G |
1: 191,080,605 (GRCm39) |
E275G |
possibly damaging |
Het |
| Pde2a |
A |
T |
7: 101,152,550 (GRCm39) |
Y371F |
possibly damaging |
Het |
| Phlpp2 |
G |
T |
8: 110,666,505 (GRCm39) |
L1011F |
probably benign |
Het |
| Potefam3e |
T |
C |
8: 19,797,815 (GRCm39) |
|
probably null |
Het |
| Prss27 |
G |
T |
17: 24,264,571 (GRCm39) |
V245L |
probably benign |
Het |
| Rbm7 |
T |
C |
9: 48,405,411 (GRCm39) |
N56S |
probably damaging |
Het |
| Ric3 |
T |
C |
7: 108,647,287 (GRCm39) |
T178A |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,104,323 (GRCm39) |
|
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,553,022 (GRCm39) |
T56A |
probably damaging |
Het |
| Sgk1 |
T |
C |
10: 21,871,440 (GRCm39) |
S60P |
probably damaging |
Het |
| Smarcad1 |
G |
A |
6: 65,050,223 (GRCm39) |
A281T |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,002,029 (GRCm39) |
H53R |
possibly damaging |
Het |
| Thbs4 |
T |
C |
13: 92,900,092 (GRCm39) |
D468G |
probably damaging |
Het |
| Tmem108 |
A |
T |
9: 103,376,981 (GRCm39) |
V156E |
probably benign |
Het |
| Tnfaip3 |
T |
G |
10: 18,880,215 (GRCm39) |
R617S |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,204,031 (GRCm39) |
M7V |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,809,741 (GRCm39) |
I1237N |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,795 (GRCm39) |
V716A |
probably benign |
Het |
|
| Other mutations in Rftn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Rftn1
|
APN |
17 |
50,362,405 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02568:Rftn1
|
APN |
17 |
50,344,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02873:Rftn1
|
APN |
17 |
50,476,180 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02965:Rftn1
|
APN |
17 |
50,362,280 (GRCm39) |
missense |
probably benign |
0.32 |
|
BB001:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB005:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB014:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB015:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Rftn1
|
UTSW |
17 |
50,301,289 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2219:Rftn1
|
UTSW |
17 |
50,476,173 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4542:Rftn1
|
UTSW |
17 |
50,362,259 (GRCm39) |
splice site |
probably null |
|
|
R5318:Rftn1
|
UTSW |
17 |
50,301,486 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5605:Rftn1
|
UTSW |
17 |
50,354,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Rftn1
|
UTSW |
17 |
50,309,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Rftn1
|
UTSW |
17 |
50,354,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Rftn1
|
UTSW |
17 |
50,354,334 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6994:Rftn1
|
UTSW |
17 |
50,344,019 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7210:Rftn1
|
UTSW |
17 |
50,301,335 (GRCm39) |
nonsense |
probably null |
|
|
R7283:Rftn1
|
UTSW |
17 |
50,354,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Rftn1
|
UTSW |
17 |
50,311,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Rftn1
|
UTSW |
17 |
50,354,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7881:Rftn1
|
UTSW |
17 |
50,354,463 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7924:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7926:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7927:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7928:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Rftn1
|
UTSW |
17 |
50,393,607 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8162:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8249:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8250:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8273:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Rftn1
|
UTSW |
17 |
50,309,665 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8551:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8554:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8555:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8736:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8739:Rftn1
|
UTSW |
17 |
50,354,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Rftn1
|
UTSW |
17 |
50,301,237 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1176:Rftn1
|
UTSW |
17 |
50,476,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation