Incidental Mutation 'R8164:Rftn1'
| ID |
633689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rftn1
|
| Ensembl Gene |
ENSMUSG00000039316 |
| Gene Name |
raftlin lipid raft linker 1 |
| Synonyms |
2310015N21Rik |
| MMRRC Submission |
067590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (49/50) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,767,454 (GRCm39) |
V347A |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,565,799 (GRCm39) |
I4808F |
probably damaging |
Het |
| Acaa2 |
C |
A |
18: 74,928,318 (GRCm39) |
Y182* |
probably null |
Het |
| Ankrd44 |
A |
T |
1: 54,703,138 (GRCm39) |
N644K |
probably damaging |
Het |
| Aurkaip1 |
T |
A |
4: 155,916,962 (GRCm39) |
M70K |
probably damaging |
Het |
| Brinp1 |
A |
T |
4: 68,681,158 (GRCm39) |
Y457* |
probably null |
Het |
| Brox |
A |
T |
1: 183,062,491 (GRCm39) |
C288S |
possibly damaging |
Het |
| Ccdc57 |
C |
T |
11: 120,788,788 (GRCm39) |
R353H |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,801,499 (GRCm39) |
S815T |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,989,691 (GRCm39) |
I101M |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,150,334 (GRCm39) |
T222A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,460,449 (GRCm39) |
D452E |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,837 (GRCm39) |
I2463T |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,582,794 (GRCm39) |
T326A |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gcdh |
A |
G |
8: 85,619,181 (GRCm39) |
S128P |
probably damaging |
Het |
| Golph3l |
G |
A |
3: 95,524,517 (GRCm39) |
R256Q |
probably benign |
Het |
| Igkv2-109 |
A |
G |
6: 68,279,853 (GRCm39) |
T25A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,573,849 (GRCm39) |
V868D |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,760,518 (GRCm39) |
F286L |
probably damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,199 (GRCm39) |
N219Y |
probably damaging |
Het |
| Mei4 |
A |
G |
9: 81,809,642 (GRCm39) |
K242E |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,014 (GRCm39) |
M253V |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,274,457 (GRCm39) |
V1277A |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,966,566 (GRCm39) |
W1335R |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,797 (GRCm39) |
H88L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,593,339 (GRCm39) |
V675M |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,119,243 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or1p1b |
A |
T |
11: 74,130,786 (GRCm39) |
Y132F |
probably damaging |
Het |
| P2ry12 |
C |
T |
3: 59,125,037 (GRCm39) |
V213I |
possibly damaging |
Het |
| Pcdhb21 |
C |
A |
18: 37,649,057 (GRCm39) |
P729T |
probably benign |
Het |
| Rnf39 |
C |
G |
17: 37,254,292 (GRCm39) |
R105G |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,711 (GRCm39) |
V382M |
possibly damaging |
Het |
| Sbno1 |
T |
C |
5: 124,512,684 (GRCm39) |
T1362A |
probably benign |
Het |
| Slc2a13 |
A |
G |
15: 91,160,281 (GRCm39) |
Y558H |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,060 (GRCm39) |
N301K |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,172,895 (GRCm39) |
T1789N |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,226,702 (GRCm39) |
A1261V |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,833,495 (GRCm39) |
Y789* |
probably null |
Het |
| Tmprss11c |
T |
A |
5: 86,379,712 (GRCm39) |
I399F |
probably damaging |
Het |
| Tnfrsf25 |
C |
T |
4: 152,201,877 (GRCm39) |
T118I |
possibly damaging |
Het |
| Trpc4 |
A |
T |
3: 54,223,226 (GRCm39) |
M721L |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,248,368 (GRCm39) |
K5R |
probably benign |
Het |
| Wdr24 |
C |
A |
17: 26,044,923 (GRCm39) |
|
probably null |
Het |
| Zc3hc1 |
A |
T |
6: 30,390,895 (GRCm39) |
I36K |
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 |
|
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 |
|
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'- GTCTAGCCTTTGTGAGATCTGC -3'
(R):5'- ATTGGTTCTGTGGGCTAACC -3'
Sequencing Primer
(F):5'- TGAGATCTGCCCAAGCTATG -3'
(R):5'- GGTTCTGTGGGCTAACCTCTCTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation