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: 0.064)
|
| Stock # |
R5318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
49992257-50190674 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 49994458 bp (GRCm38)
|
| 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: 35,567,986 |
E74K |
possibly damaging |
Het |
| Anapc15 |
C |
T |
7: 101,898,603 |
P68L |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,391,928 |
S298P |
probably damaging |
Het |
| Arfgef2 |
A |
C |
2: 166,873,971 |
K1393N |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,715,329 |
V181E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,134,512 |
D134G |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 87,980,566 |
T359A |
possibly damaging |
Het |
| Cblb |
A |
T |
16: 52,186,198 |
K754N |
possibly damaging |
Het |
| Ccdc153 |
A |
T |
9: 44,245,765 |
R135* |
probably null |
Het |
| Cel |
T |
C |
2: 28,557,708 |
E398G |
possibly damaging |
Het |
| Clip1 |
G |
A |
5: 123,613,084 |
|
probably benign |
Het |
| Dnase2b |
C |
A |
3: 146,582,455 |
R295L |
probably benign |
Het |
| Dnm3 |
G |
A |
1: 162,011,807 |
Q194* |
probably null |
Het |
| Dtx2 |
T |
A |
5: 136,012,100 |
S120T |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 16,376,629 |
S533T |
probably damaging |
Het |
| Foxred2 |
T |
C |
15: 77,952,398 |
I306V |
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,453,027 |
T278S |
probably benign |
Het |
| Gli2 |
T |
A |
1: 118,844,470 |
T502S |
probably damaging |
Het |
| Gm10436 |
A |
T |
12: 88,176,228 |
C207S |
probably benign |
Het |
| Gm21830 |
A |
T |
2: 67,432,814 |
|
probably null |
Het |
| Gm38394 |
A |
G |
1: 133,658,115 |
S495P |
possibly damaging |
Het |
| Gm5617 |
T |
A |
9: 48,495,911 |
I115N |
possibly damaging |
Het |
| Gpr75 |
G |
T |
11: 30,892,459 |
A455S |
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,694,136 |
E683G |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,733,918 |
I877V |
probably damaging |
Het |
| Gsg1l2 |
G |
T |
11: 67,782,521 |
C109F |
possibly damaging |
Het |
| H2-Q4 |
G |
A |
17: 35,383,311 |
V341I |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 |
|
probably null |
Het |
| Kif5c |
A |
G |
2: 49,671,828 |
K68R |
probably benign |
Het |
| Lct |
T |
A |
1: 128,304,372 |
H580L |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 80,022,512 |
I302M |
probably damaging |
Het |
| Mef2b |
A |
T |
8: 70,166,843 |
R228W |
probably damaging |
Het |
| Mtus2 |
T |
A |
5: 148,076,572 |
D58E |
probably benign |
Het |
| Myh15 |
T |
G |
16: 49,110,471 |
S603A |
probably damaging |
Het |
| Olfr26 |
C |
T |
9: 38,855,448 |
P129S |
probably damaging |
Het |
| Olfr283 |
A |
G |
15: 98,378,642 |
I156T |
possibly damaging |
Het |
| Olfr54 |
T |
C |
11: 51,027,593 |
V197A |
probably benign |
Het |
| P2rx4 |
G |
A |
5: 122,719,148 |
C149Y |
probably null |
Het |
| Proca1 |
T |
A |
11: 78,201,857 |
V43E |
possibly damaging |
Het |
| Rrp15 |
T |
C |
1: 186,721,546 |
T235A |
probably benign |
Het |
| Serpina6 |
T |
C |
12: 103,653,962 |
E176G |
possibly damaging |
Het |
| Shprh |
T |
G |
10: 11,166,557 |
I761M |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,160,204 |
|
probably benign |
Het |
| Snupn |
T |
C |
9: 56,957,061 |
S15P |
probably damaging |
Het |
| Tbc1d15 |
A |
T |
10: 115,208,969 |
Y509* |
probably null |
Het |
| Tcf4 |
T |
C |
18: 69,465,430 |
V72A |
probably benign |
Het |
| Tdrd3 |
T |
C |
14: 87,477,463 |
|
probably null |
Het |
| Tm9sf4 |
T |
A |
2: 153,187,656 |
V175D |
probably benign |
Het |
| Vmn1r201 |
T |
C |
13: 22,474,922 |
L102P |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 33,078,343 |
N1788I |
possibly damaging |
Het |
| Xpc |
A |
C |
6: 91,493,010 |
V744G |
probably damaging |
Het |
| Xrcc6 |
T |
C |
15: 82,037,507 |
F178L |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,270,850 |
V1196A |
probably benign |
Het |
|
| Other mutations in Rftn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Rftn1
|
APN |
17 |
50,055,377 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02318:Rftn1
|
APN |
17 |
50,036,970 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02568:Rftn1
|
APN |
17 |
50,036,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02873:Rftn1
|
APN |
17 |
50,169,152 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL02965:Rftn1
|
APN |
17 |
50,055,252 (GRCm38) |
missense |
probably benign |
0.32 |
|
BB001:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB003:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB004:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB005:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB011:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB013:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB014:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB015:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0544:Rftn1
|
UTSW |
17 |
49,994,261 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2219:Rftn1
|
UTSW |
17 |
50,169,145 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R4542:Rftn1
|
UTSW |
17 |
50,055,231 (GRCm38) |
splice site |
probably null |
|
|
R5605:Rftn1
|
UTSW |
17 |
50,047,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5700:Rftn1
|
UTSW |
17 |
50,002,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5853:Rftn1
|
UTSW |
17 |
50,047,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6459:Rftn1
|
UTSW |
17 |
50,047,306 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6994:Rftn1
|
UTSW |
17 |
50,036,991 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7210:Rftn1
|
UTSW |
17 |
49,994,307 (GRCm38) |
nonsense |
probably null |
|
|
R7283:Rftn1
|
UTSW |
17 |
50,047,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7348:Rftn1
|
UTSW |
17 |
50,004,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7444:Rftn1
|
UTSW |
17 |
50,047,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7684:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7685:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7686:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7881:Rftn1
|
UTSW |
17 |
50,047,435 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7924:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7926:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7927:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7928:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7943:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8052:Rftn1
|
UTSW |
17 |
50,086,579 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8162:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8164:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8248:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8249:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8250:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8271:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8272:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8273:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8296:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8297:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8300:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8315:Rftn1
|
UTSW |
17 |
50,002,637 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8551:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8552:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8554:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8555:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8725:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8736:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8739:Rftn1
|
UTSW |
17 |
50,047,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9526:Rftn1
|
UTSW |
17 |
49,994,209 (GRCm38) |
missense |
probably benign |
0.31 |
|
Z1176:Rftn1
|
UTSW |
17 |
50,169,003 (GRCm38) |
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 |
Incidental Mutation