Incidental Mutation 'IGL02965:Rftn1'
| ID |
365527 |
| 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: 0.073)
|
| Stock # |
IGL02965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
50300287-50497525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50362280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 273
(E273K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044503]
[ENSMUST00000113195]
|
| AlphaFold |
Q6A0D4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044503
AA Change: E273K
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: E273K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
473 |
1.3e-219 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113195
|
| SMART Domains |
Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,071,439 (GRCm39) |
K1471R |
probably benign |
Het |
| Add1 |
A |
G |
5: 34,777,467 (GRCm39) |
S77G |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,364,863 (GRCm39) |
N2642K |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,767,267 (GRCm39) |
M10K |
possibly damaging |
Het |
| Btd |
T |
A |
14: 31,389,193 (GRCm39) |
S305T |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,229,065 (GRCm39) |
V2008I |
probably benign |
Het |
| Cpd |
T |
G |
11: 76,681,814 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
A |
G |
9: 64,217,766 (GRCm39) |
F772L |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,222,091 (GRCm39) |
I517N |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,161,661 (GRCm39) |
T34M |
probably damaging |
Het |
| Flna |
C |
T |
X: 73,270,816 (GRCm39) |
V2235I |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,950,031 (GRCm39) |
I371T |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,813,398 (GRCm39) |
S3239N |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,273,343 (GRCm39) |
I297V |
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,942,235 (GRCm39) |
E111G |
probably benign |
Het |
| Gdi1 |
G |
T |
X: 73,351,331 (GRCm39) |
A148S |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
| Hsp90aa1 |
A |
G |
12: 110,662,113 (GRCm39) |
M1T |
probably null |
Het |
| Il22b |
A |
G |
10: 118,130,762 (GRCm39) |
S45P |
probably damaging |
Het |
| Inppl1 |
C |
A |
7: 101,477,478 (GRCm39) |
V715F |
possibly damaging |
Het |
| Kansl1 |
T |
C |
11: 104,225,991 (GRCm39) |
Y975C |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,338 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,432,492 (GRCm39) |
R175W |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,751,803 (GRCm39) |
D516G |
probably damaging |
Het |
| Mfsd3 |
A |
G |
15: 76,587,352 (GRCm39) |
H345R |
probably benign |
Het |
| Mlkl |
A |
T |
8: 112,058,469 (GRCm39) |
I162N |
probably benign |
Het |
| Mtnr1a |
A |
T |
8: 45,522,419 (GRCm39) |
N58I |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,951,774 (GRCm39) |
V499A |
probably damaging |
Het |
| Nudt6 |
A |
G |
3: 37,473,655 (GRCm39) |
L22P |
probably damaging |
Het |
| Nxf7 |
T |
G |
X: 134,490,159 (GRCm39) |
E35A |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,653 (GRCm39) |
I289L |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,095,629 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
G |
T |
18: 37,557,021 (GRCm39) |
V784L |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,637,560 (GRCm39) |
D156G |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,106,939 (GRCm39) |
D670G |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,967,443 (GRCm39) |
H945Q |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,840,861 (GRCm39) |
|
probably benign |
Het |
| Rnf125 |
A |
G |
18: 21,116,168 (GRCm39) |
I117V |
probably benign |
Het |
| Robo4 |
A |
G |
9: 37,321,765 (GRCm39) |
K742R |
possibly damaging |
Het |
| Sez6l |
T |
C |
5: 112,623,440 (GRCm39) |
E37G |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,993,218 (GRCm39) |
I306L |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,506,081 (GRCm39) |
Y497* |
probably null |
Het |
| Snx27 |
C |
A |
3: 94,489,733 (GRCm39) |
V42L |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,365,187 (GRCm39) |
T199S |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,235,301 (GRCm39) |
Y72H |
probably benign |
Het |
| Spef2 |
G |
T |
15: 9,725,192 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
G |
T |
14: 73,816,871 (GRCm39) |
V204L |
probably benign |
Het |
| Tescl |
C |
A |
7: 24,033,098 (GRCm39) |
V76F |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,928,628 (GRCm39) |
Y2681N |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,713,769 (GRCm39) |
T2A |
probably damaging |
Het |
| Vdac3-ps1 |
T |
A |
13: 18,205,431 (GRCm39) |
|
noncoding transcript |
Het |
| Wapl |
T |
A |
14: 34,461,181 (GRCm39) |
|
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 |
|
IGL02318:Rftn1
|
APN |
17 |
50,343,998 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation