Incidental Mutation 'R5318:Rftn1'
ID |
405955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rftn1
|
Ensembl Gene |
ENSMUSG00000039316 |
Gene Name |
raftlin lipid raft linker 1 |
Synonyms |
2310015N21Rik |
MMRRC Submission |
042901-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R5318 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
50300287-50497525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 50301486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 454
(N454K)
|
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: N454K
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000046524 Gene: ENSMUSG00000039316 AA Change: N454K
Domain | Start | End | E-Value | Type |
Pfam:Raftlin
|
1 |
473 |
1.3e-219 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113195
AA Change: N176K
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108820 Gene: ENSMUSG00000039316 AA Change: N176K
Domain | Start | End | E-Value | Type |
Pfam:Raftlin
|
1 |
207 |
1.5e-104 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.7%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
G |
A |
17: 35,878,883 (GRCm39) |
E74K |
possibly damaging |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Ankfn1 |
A |
G |
11: 89,282,754 (GRCm39) |
S298P |
probably damaging |
Het |
Arfgef2 |
A |
C |
2: 166,715,891 (GRCm39) |
K1393N |
probably damaging |
Het |
Atp4a |
T |
A |
7: 30,414,754 (GRCm39) |
V181E |
probably damaging |
Het |
Bin3 |
A |
G |
14: 70,371,961 (GRCm39) |
D134G |
possibly damaging |
Het |
Cabs1 |
A |
G |
5: 88,128,425 (GRCm39) |
T359A |
possibly damaging |
Het |
Cblb |
A |
T |
16: 52,006,561 (GRCm39) |
K754N |
possibly damaging |
Het |
Ccdc153 |
A |
T |
9: 44,157,062 (GRCm39) |
R135* |
probably null |
Het |
Cel |
T |
C |
2: 28,447,720 (GRCm39) |
E398G |
possibly damaging |
Het |
Clip1 |
G |
A |
5: 123,751,147 (GRCm39) |
|
probably benign |
Het |
Dnase2b |
C |
A |
3: 146,288,210 (GRCm39) |
R295L |
probably benign |
Het |
Dnm3 |
G |
A |
1: 161,839,376 (GRCm39) |
Q194* |
probably null |
Het |
Dtx2 |
T |
A |
5: 136,040,954 (GRCm39) |
S120T |
possibly damaging |
Het |
Fat3 |
A |
T |
9: 16,287,925 (GRCm39) |
S533T |
probably damaging |
Het |
Foxred2 |
T |
C |
15: 77,836,598 (GRCm39) |
I306V |
probably benign |
Het |
Gdpd5 |
A |
T |
7: 99,102,234 (GRCm39) |
T278S |
probably benign |
Het |
Gli2 |
T |
A |
1: 118,772,200 (GRCm39) |
T502S |
probably damaging |
Het |
Gm21830 |
A |
T |
2: 67,263,158 (GRCm39) |
|
probably null |
Het |
Gm5617 |
T |
A |
9: 48,407,211 (GRCm39) |
I115N |
possibly damaging |
Het |
Gpr75 |
G |
T |
11: 30,842,459 (GRCm39) |
A455S |
probably benign |
Het |
Grik3 |
A |
G |
4: 125,587,929 (GRCm39) |
E683G |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,710,916 (GRCm39) |
I877V |
probably damaging |
Het |
Gsg1l2 |
G |
T |
11: 67,673,347 (GRCm39) |
C109F |
possibly damaging |
Het |
H2-Q4 |
G |
A |
17: 35,602,287 (GRCm39) |
V341I |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Kif5c |
A |
G |
2: 49,561,840 (GRCm39) |
K68R |
probably benign |
Het |
Lct |
T |
A |
1: 128,232,109 (GRCm39) |
H580L |
probably damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,999,495 (GRCm39) |
I302M |
probably damaging |
Het |
Mef2b |
A |
T |
8: 70,619,493 (GRCm39) |
R228W |
probably damaging |
Het |
Mtus2 |
T |
A |
5: 148,013,382 (GRCm39) |
D58E |
probably benign |
Het |
Myh15 |
T |
G |
16: 48,930,834 (GRCm39) |
S603A |
probably damaging |
Het |
Or1x2 |
T |
C |
11: 50,918,420 (GRCm39) |
V197A |
probably benign |
Het |
Or8d1 |
C |
T |
9: 38,766,744 (GRCm39) |
P129S |
probably damaging |
Het |
Or8s2 |
A |
G |
15: 98,276,523 (GRCm39) |
I156T |
possibly damaging |
Het |
P2rx4 |
G |
A |
5: 122,857,211 (GRCm39) |
C149Y |
probably null |
Het |
Pramel51 |
A |
T |
12: 88,142,998 (GRCm39) |
C207S |
probably benign |
Het |
Proca1 |
T |
A |
11: 78,092,683 (GRCm39) |
V43E |
possibly damaging |
Het |
Rrp15 |
T |
C |
1: 186,453,743 (GRCm39) |
T235A |
probably benign |
Het |
Serpina6 |
T |
C |
12: 103,620,221 (GRCm39) |
E176G |
possibly damaging |
Het |
Shprh |
T |
G |
10: 11,042,301 (GRCm39) |
I761M |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,759,427 (GRCm39) |
|
probably benign |
Het |
Snupn |
T |
C |
9: 56,864,345 (GRCm39) |
S15P |
probably damaging |
Het |
Tbc1d15 |
A |
T |
10: 115,044,874 (GRCm39) |
Y509* |
probably null |
Het |
Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
Tdrd3 |
T |
C |
14: 87,714,899 (GRCm39) |
|
probably null |
Het |
Tm9sf4 |
T |
A |
2: 153,029,576 (GRCm39) |
V175D |
probably benign |
Het |
Vmn1r201 |
T |
C |
13: 22,659,092 (GRCm39) |
L102P |
probably damaging |
Het |
Wdfy4 |
T |
A |
14: 32,800,300 (GRCm39) |
N1788I |
possibly damaging |
Het |
Xpc |
A |
C |
6: 91,469,992 (GRCm39) |
V744G |
probably damaging |
Het |
Xrcc6 |
T |
C |
15: 81,921,708 (GRCm39) |
F178L |
probably damaging |
Het |
Zbed6 |
A |
G |
1: 133,585,853 (GRCm39) |
S495P |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,317,624 (GRCm39) |
V1196A |
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 |
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 |
|
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'- TCTGGGATTCGAGTGCCTAAG -3'
(R):5'- CACATGGAAGGTGTTAGCAGGC -3'
Sequencing Primer
(F):5'- GACCATTCTGCACAGCTGCTG -3'
(R):5'- CAGGCAGCAAGGGTGGG -3'
|
Posted On |
2016-07-22 |