Incidental Mutation 'R8554:Rftn1'
| ID |
660047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rftn1
|
| Ensembl Gene |
ENSMUSG00000039316 |
| Gene Name |
raftlin lipid raft linker 1 |
| Synonyms |
2310015N21Rik |
| MMRRC Submission |
068517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8554 (G1)
|
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 |
|---|
| Adtrp |
G |
A |
13: 41,969,636 (GRCm39) |
T89I |
possibly damaging |
Het |
| Aopep |
T |
A |
13: 63,444,711 (GRCm39) |
Y94N |
possibly damaging |
Het |
| Apc |
T |
C |
18: 34,445,999 (GRCm39) |
V947A |
probably damaging |
Het |
| Apob |
A |
C |
12: 8,037,830 (GRCm39) |
K334N |
probably damaging |
Het |
| Camk2d |
A |
T |
3: 126,564,448 (GRCm39) |
Q119L |
possibly damaging |
Het |
| Ccdc60 |
A |
T |
5: 116,328,171 (GRCm39) |
F98I |
probably damaging |
Het |
| Cd47 |
A |
G |
16: 49,688,304 (GRCm39) |
T22A |
probably benign |
Het |
| Crat |
A |
G |
2: 30,300,035 (GRCm39) |
V115A |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,507,538 (GRCm39) |
M2992V |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,586,100 (GRCm39) |
N263K |
probably damaging |
Het |
| Eln |
A |
C |
5: 134,738,964 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,523,228 (GRCm39) |
E1284G |
unknown |
Het |
| Fam193a |
T |
A |
5: 34,633,115 (GRCm39) |
M122K |
probably benign |
Het |
| Fcgr1 |
A |
T |
3: 96,199,788 (GRCm39) |
W40R |
probably damaging |
Het |
| Gm3486 |
T |
A |
14: 41,209,119 (GRCm39) |
Q84L |
probably damaging |
Het |
| Golga2 |
G |
A |
2: 32,183,357 (GRCm39) |
D80N |
probably damaging |
Het |
| Isg20 |
T |
C |
7: 78,566,425 (GRCm39) |
Y125H |
probably benign |
Het |
| Kdf1 |
A |
G |
4: 133,256,188 (GRCm39) |
I302V |
probably damaging |
Het |
| Kics2 |
T |
A |
10: 121,575,960 (GRCm39) |
I27N |
probably benign |
Het |
| Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,234,495 (GRCm39) |
Q1038L |
probably benign |
Het |
| Marchf6 |
G |
A |
15: 31,482,976 (GRCm39) |
H476Y |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,343,448 (GRCm39) |
E215G |
possibly damaging |
Het |
| Or2aa1 |
A |
T |
11: 59,480,312 (GRCm39) |
L201Q |
possibly damaging |
Het |
| Or2h15 |
T |
A |
17: 38,441,489 (GRCm39) |
Q198L |
probably damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,595 (GRCm39) |
T148A |
possibly damaging |
Het |
| Pate11 |
A |
G |
9: 36,387,788 (GRCm39) |
I25V |
probably benign |
Het |
| Pdlim2 |
T |
A |
14: 70,408,698 (GRCm39) |
T173S |
probably benign |
Het |
| Pitpnb |
T |
C |
5: 111,494,372 (GRCm39) |
M74T |
probably benign |
Het |
| Pou2f2 |
C |
A |
7: 24,814,981 (GRCm39) |
|
probably benign |
Het |
| Rab35 |
A |
C |
5: 115,783,690 (GRCm39) |
|
probably null |
Het |
| Rasef |
A |
T |
4: 73,645,844 (GRCm39) |
D508E |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,682,838 (GRCm39) |
S319P |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,900,159 (GRCm39) |
S44P |
probably benign |
Het |
| Rnf214 |
C |
A |
9: 45,778,797 (GRCm39) |
|
probably null |
Het |
| Rpsa |
T |
C |
9: 119,958,317 (GRCm39) |
V76A |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,978,973 (GRCm39) |
V529A |
probably benign |
Het |
| Siglecg |
C |
T |
7: 43,058,320 (GRCm39) |
S69L |
probably benign |
Het |
| Sos1 |
G |
T |
17: 80,705,842 (GRCm39) |
T1243K |
probably damaging |
Het |
| Tent5a |
T |
C |
9: 85,208,784 (GRCm39) |
D13G |
possibly damaging |
Het |
| Tlcd3a |
A |
G |
11: 76,096,244 (GRCm39) |
H124R |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,106,084 (GRCm39) |
T872A |
probably benign |
Het |
| Tnfrsf8 |
A |
C |
4: 145,023,511 (GRCm39) |
C107W |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,937,986 (GRCm39) |
Y913C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,568,376 (GRCm39) |
T19179A |
probably damaging |
Het |
| Usp42 |
T |
A |
5: 143,706,137 (GRCm39) |
K294N |
probably damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,971 (GRCm39) |
C288S |
probably benign |
Het |
| Vmn1r29 |
T |
A |
6: 58,285,191 (GRCm39) |
*304K |
probably null |
Het |
| Vmn2r1 |
T |
C |
3: 63,997,334 (GRCm39) |
I330T |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,997 (GRCm39) |
I735V |
probably benign |
Het |
| Vmn2r65 |
T |
C |
7: 84,595,960 (GRCm39) |
I241M |
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 |
|
|
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 |
|
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'- AGCCTTTGTGAGATCTGCCC -3'
(R):5'- CAAATTGGTTCTGTGGGCTAAC -3'
Sequencing Primer
(F):5'- TGAGATCTGCCCAAGCTATG -3'
(R):5'- AATTGGTTCTGTGGGCTAACCTCTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation