Incidental Mutation 'IGL02568:Rftn1'
| ID |
298898 |
| 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 # |
IGL02568
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
50300287-50497525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50344027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 87
(D87G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044503]
[ENSMUST00000113195]
|
| AlphaFold |
Q6A0D4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044503
AA Change: D365G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: D365G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
473 |
1.3e-219 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113195
AA Change: D87G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
AA Change: D87G
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,033,184 (GRCm39) |
|
probably benign |
Het |
| Abcg5 |
C |
T |
17: 84,977,827 (GRCm39) |
R143Q |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,129,711 (GRCm39) |
T150I |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,158,490 (GRCm39) |
V175A |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,766,721 (GRCm39) |
E208G |
probably benign |
Het |
| C2 |
T |
A |
17: 35,083,325 (GRCm39) |
D518V |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,820,646 (GRCm39) |
C552* |
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,415,685 (GRCm39) |
D447V |
probably damaging |
Het |
| Cept1 |
C |
T |
3: 106,411,035 (GRCm39) |
R386H |
probably benign |
Het |
| Comt |
A |
G |
16: 18,230,454 (GRCm39) |
V85A |
probably damaging |
Het |
| Ddx24 |
G |
T |
12: 103,383,571 (GRCm39) |
L627I |
probably damaging |
Het |
| Efemp1 |
T |
C |
11: 28,866,971 (GRCm39) |
|
probably null |
Het |
| Etf1 |
T |
C |
18: 35,046,714 (GRCm39) |
T99A |
possibly damaging |
Het |
| Fhad1 |
T |
C |
4: 141,660,105 (GRCm39) |
E68G |
probably null |
Het |
| Fzd3 |
C |
A |
14: 65,473,389 (GRCm39) |
|
probably benign |
Het |
| Gins3 |
T |
C |
8: 96,364,606 (GRCm39) |
F119L |
probably benign |
Het |
| Golga5 |
G |
T |
12: 102,438,338 (GRCm39) |
V18L |
probably benign |
Het |
| Il16 |
C |
A |
7: 83,310,484 (GRCm39) |
R474M |
probably damaging |
Het |
| Itpr1 |
C |
A |
6: 108,316,515 (GRCm39) |
Q71K |
possibly damaging |
Het |
| Kif21b |
T |
G |
1: 136,100,605 (GRCm39) |
L1562R |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,042,008 (GRCm39) |
E42G |
possibly damaging |
Het |
| Mmp3 |
T |
G |
9: 7,446,001 (GRCm39) |
L35R |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,452,780 (GRCm39) |
G94W |
probably damaging |
Het |
| Nccrp1 |
G |
A |
7: 28,243,905 (GRCm39) |
A226V |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,323,564 (GRCm39) |
Y980H |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,911,277 (GRCm39) |
S1345P |
probably damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,813 (GRCm39) |
S455P |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,036,263 (GRCm39) |
F689S |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,583 (GRCm39) |
F154L |
probably benign |
Het |
| Plekhm1 |
T |
A |
11: 103,285,876 (GRCm39) |
E186D |
probably damaging |
Het |
| Plxdc1 |
T |
C |
11: 97,869,390 (GRCm39) |
Q66R |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,544,406 (GRCm39) |
Y1799D |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,462,563 (GRCm39) |
F220L |
probably damaging |
Het |
| Rgs6 |
C |
T |
12: 83,117,376 (GRCm39) |
T266M |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,326,054 (GRCm39) |
Y1208H |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,026,648 (GRCm39) |
V428L |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
A |
4: 58,135,441 (GRCm39) |
T556S |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,667,777 (GRCm39) |
N119K |
probably benign |
Het |
| Tpgs1 |
T |
A |
10: 79,505,238 (GRCm39) |
|
probably benign |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,370 (GRCm39) |
E88G |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,791,204 (GRCm39) |
V261A |
probably benign |
Het |
| Usp18 |
C |
T |
6: 121,238,050 (GRCm39) |
T143I |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,812 (GRCm39) |
I713T |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
|
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