Incidental Mutation 'BB014:Rftn1'
ID |
642837 |
Institutional Source |
Beutler Lab
|
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 # |
BB014
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
50300287-50497525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 50354408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 318
(A318D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046524
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044503]
[ENSMUST00000113195]
|
AlphaFold |
Q6A0D4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044503
AA Change: A318D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046524 Gene: ENSMUSG00000039316 AA Change: A318D
Domain | Start | End | E-Value | Type |
Pfam:Raftlin
|
1 |
473 |
1.3e-219 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113195
AA Change: A40D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108820 Gene: ENSMUSG00000039316 AA Change: A40D
Domain | Start | End | E-Value | Type |
Pfam:Raftlin
|
1 |
207 |
1.5e-104 |
PFAM |
|
Meta Mutation Damage Score |
0.3897 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
A |
G |
4: 103,123,539 (GRCm39) |
M111T |
probably benign |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,257,266 (GRCm39) |
G1188D |
probably damaging |
Het |
Amz2 |
A |
G |
11: 109,319,884 (GRCm39) |
K90R |
probably damaging |
Het |
Arhgef4 |
G |
T |
1: 34,846,334 (GRCm39) |
Q227H |
probably damaging |
Het |
B4galt3 |
T |
A |
1: 171,099,342 (GRCm39) |
C10* |
probably null |
Het |
Banf2 |
T |
A |
2: 143,915,718 (GRCm39) |
M53K |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,117,371 (GRCm39) |
L249* |
probably null |
Het |
Cftr |
A |
G |
6: 18,267,970 (GRCm39) |
D673G |
possibly damaging |
Het |
Cntnap2 |
G |
T |
6: 47,072,621 (GRCm39) |
C1063F |
possibly damaging |
Het |
Cstpp1 |
T |
A |
2: 91,252,250 (GRCm39) |
D37V |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,550,494 (GRCm39) |
I296T |
probably damaging |
Het |
Dpy19l2 |
A |
G |
9: 24,607,197 (GRCm39) |
V88A |
probably benign |
Het |
Fbln5 |
T |
C |
12: 101,784,647 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,225,656 (GRCm39) |
D532G |
possibly damaging |
Het |
Fnta |
G |
A |
8: 26,494,454 (GRCm39) |
R258* |
probably null |
Het |
Gch1 |
G |
A |
14: 47,393,380 (GRCm39) |
H201Y |
probably damaging |
Het |
Grik2 |
A |
T |
10: 49,116,890 (GRCm39) |
S624T |
probably damaging |
Het |
Grm5 |
T |
A |
7: 87,685,382 (GRCm39) |
S500T |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,485,526 (GRCm39) |
I4359F |
probably damaging |
Het |
Hrc |
T |
A |
7: 44,985,477 (GRCm39) |
H209Q |
possibly damaging |
Het |
Hsd17b14 |
T |
C |
7: 45,215,395 (GRCm39) |
M164T |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,307,476 (GRCm39) |
F3952L |
possibly damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lig4 |
A |
T |
8: 10,023,629 (GRCm39) |
H50Q |
possibly damaging |
Het |
Lrp6 |
G |
T |
6: 134,497,513 (GRCm39) |
R165S |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,592,011 (GRCm39) |
T958A |
|
Het |
Myo19 |
A |
G |
11: 84,791,046 (GRCm39) |
E419G |
probably damaging |
Het |
Ndufa5 |
A |
G |
6: 24,527,291 (GRCm39) |
V16A |
possibly damaging |
Het |
Or10a2 |
T |
C |
7: 106,673,496 (GRCm39) |
F154L |
probably benign |
Het |
Phf24 |
A |
C |
4: 42,934,774 (GRCm39) |
T137P |
probably damaging |
Het |
Pkp4 |
A |
T |
2: 59,142,098 (GRCm39) |
N467I |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,519,536 (GRCm39) |
I99N |
probably benign |
Het |
Rbm12b2 |
C |
T |
4: 12,095,417 (GRCm39) |
R759C |
possibly damaging |
Het |
Rnf34 |
T |
A |
5: 122,988,288 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCAGCGGCGGC |
7: 97,229,131 (GRCm39) |
|
probably benign |
Het |
Scaf8 |
T |
A |
17: 3,209,495 (GRCm39) |
S73T |
unknown |
Het |
Scn4a |
T |
A |
11: 106,233,209 (GRCm39) |
E454D |
probably damaging |
Het |
Serpina1e |
A |
G |
12: 103,917,450 (GRCm39) |
V73A |
probably benign |
Het |
Sh3rf2 |
A |
G |
18: 42,244,487 (GRCm39) |
T350A |
probably benign |
Het |
Slc35a1 |
A |
G |
4: 34,669,021 (GRCm39) |
V264A |
probably damaging |
Het |
Slf2 |
A |
G |
19: 44,923,740 (GRCm39) |
K185E |
probably damaging |
Het |
Spmip8 |
T |
A |
8: 96,039,786 (GRCm39) |
S68T |
probably benign |
Het |
Spsb2 |
T |
C |
6: 124,786,336 (GRCm39) |
F23S |
probably benign |
Het |
Ssx2ip |
T |
G |
3: 146,138,365 (GRCm39) |
L404R |
probably damaging |
Het |
Strn4 |
T |
A |
7: 16,560,556 (GRCm39) |
L236Q |
probably null |
Het |
Tcp10b |
A |
G |
17: 13,288,579 (GRCm39) |
T202A |
probably benign |
Het |
Tdp1 |
G |
T |
12: 99,878,555 (GRCm39) |
V448L |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,502,666 (GRCm39) |
E61G |
probably damaging |
Het |
Trim50 |
T |
C |
5: 135,382,465 (GRCm39) |
F106L |
probably benign |
Het |
Usp5 |
G |
T |
6: 124,801,192 (GRCm39) |
F224L |
probably benign |
Het |
Vmn2r45 |
C |
A |
7: 8,486,513 (GRCm39) |
M258I |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,779,572 (GRCm39) |
V198E |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,799,170 (GRCm39) |
I722T |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTAGCCTTTGTGAGATCTGC -3'
(R):5'- ATTGGTTCTGTGGGCTAACC -3'
Sequencing Primer
(F):5'- TGAGATCTGCCCAAGCTATG -3'
(R):5'- GGTTCTGTGGGCTAACCTCTCTC -3'
|
Posted On |
2020-08-01 |