Incidental Mutation 'R7283:Rftn1'
| ID |
565833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rftn1
|
| Ensembl Gene |
ENSMUSG00000039316 |
| Gene Name |
raftlin lipid raft linker 1 |
| Synonyms |
2310015N21Rik |
| MMRRC Submission |
045361-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R7283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
50300287-50497525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50354469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 298
(Y298H)
|
| 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: Y298H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: Y298H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
473 |
1.3e-219 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113195
AA Change: Y20H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
AA Change: Y20H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
207 |
1.5e-104 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,700,504 (GRCm39) |
V278A |
probably benign |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abce1 |
C |
A |
8: 80,411,885 (GRCm39) |
G592* |
probably null |
Het |
| Acad10 |
A |
C |
5: 121,787,538 (GRCm39) |
V137G |
possibly damaging |
Het |
| Adcy3 |
A |
G |
12: 4,253,563 (GRCm39) |
I672V |
not run |
Het |
| Adgrb1 |
A |
T |
15: 74,452,512 (GRCm39) |
Q1166L |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,768,955 (GRCm39) |
N465K |
probably damaging |
Het |
| Avpr1b |
A |
G |
1: 131,537,469 (GRCm39) |
T418A |
probably benign |
Het |
| Azin1 |
G |
A |
15: 38,501,652 (GRCm39) |
T33I |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,706,425 (GRCm39) |
T1339A |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,165,654 (GRCm39) |
Q1346R |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,001,446 (GRCm39) |
Y299C |
probably damaging |
Het |
| Clip1 |
A |
C |
5: 123,751,857 (GRCm39) |
C641W |
|
Het |
| Clip3 |
T |
C |
7: 30,005,237 (GRCm39) |
S524P |
probably damaging |
Het |
| Cnpy4 |
A |
T |
5: 138,191,144 (GRCm39) |
H240L |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,466,339 (GRCm39) |
Y381H |
probably damaging |
Het |
| Cyp3a13 |
T |
A |
5: 137,903,818 (GRCm39) |
N280I |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,104,020 (GRCm39) |
F788S |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,798,207 (GRCm39) |
N484S |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 38,943,842 (GRCm39) |
I912F |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,649,673 (GRCm39) |
K217* |
probably null |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,061 (GRCm39) |
V36A |
probably damaging |
Het |
| Invs |
T |
A |
4: 48,392,526 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
T |
A |
6: 148,725,979 (GRCm39) |
Y30F |
possibly damaging |
Het |
| Kctd14 |
T |
C |
7: 97,100,693 (GRCm39) |
M1T |
probably null |
Het |
| Klrb1c |
A |
T |
6: 128,761,220 (GRCm39) |
C136S |
probably benign |
Het |
| Morn2 |
A |
G |
17: 80,604,688 (GRCm39) |
E48G |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,092,670 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nfxl1 |
A |
G |
5: 72,686,393 (GRCm39) |
S603P |
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,765,741 (GRCm39) |
A351V |
probably benign |
Het |
| Nlrp4f |
G |
A |
13: 65,343,352 (GRCm39) |
R76* |
probably null |
Het |
| Or1e1f |
T |
C |
11: 73,855,634 (GRCm39) |
S67P |
probably damaging |
Het |
| Or52n1 |
G |
T |
7: 104,382,800 (GRCm39) |
T257K |
probably damaging |
Het |
| Or5h22 |
A |
T |
16: 58,894,555 (GRCm39) |
M296K |
probably benign |
Het |
| Or7e176 |
A |
C |
9: 20,171,555 (GRCm39) |
I140L |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,483 (GRCm39) |
I201N |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,817,394 (GRCm39) |
V601A |
not run |
Het |
| Pde4dip |
T |
C |
3: 97,666,198 (GRCm39) |
T349A |
probably benign |
Het |
| Pdlim5 |
T |
C |
3: 142,017,741 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,366,676 (GRCm39) |
N718S |
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,401 (GRCm39) |
H135R |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,191 (GRCm39) |
Y375F |
probably damaging |
Het |
| Prkca |
C |
T |
11: 108,231,471 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,535,628 (GRCm39) |
S1663G |
probably benign |
Het |
| Ptbp3 |
T |
C |
4: 59,514,384 (GRCm39) |
T80A |
probably benign |
Het |
| Ptpn4 |
C |
T |
1: 119,610,261 (GRCm39) |
V696I |
possibly damaging |
Het |
| Pygl |
A |
T |
12: 70,263,342 (GRCm39) |
W175R |
possibly damaging |
Het |
| Rit2 |
A |
G |
18: 31,449,892 (GRCm39) |
|
probably null |
Het |
| Runx1t1 |
G |
A |
4: 13,846,935 (GRCm39) |
G240R |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,493,845 (GRCm39) |
|
probably null |
Het |
| Serpina16 |
A |
C |
12: 103,638,691 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
A |
T |
13: 24,039,831 (GRCm39) |
M290L |
|
Het |
| Slc6a4 |
A |
T |
11: 76,901,522 (GRCm39) |
M86L |
probably benign |
Het |
| Spag7 |
A |
T |
11: 70,556,139 (GRCm39) |
V46E |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,127,131 (GRCm39) |
R1960W |
possibly damaging |
Het |
| Sptlc1 |
T |
C |
13: 53,498,914 (GRCm39) |
I271V |
probably benign |
Het |
| Stk17b |
A |
C |
1: 53,796,674 (GRCm39) |
H364Q |
probably benign |
Het |
| Strc |
T |
C |
2: 121,209,933 (GRCm39) |
H130R |
probably damaging |
Het |
| Stxbp1 |
T |
A |
2: 32,705,026 (GRCm39) |
D148V |
probably damaging |
Het |
| Tirap |
G |
A |
9: 35,100,225 (GRCm39) |
P153L |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmem51 |
T |
A |
4: 141,759,094 (GRCm39) |
D218V |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,193,554 (GRCm39) |
D218E |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,039,062 (GRCm39) |
D934G |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,002,914 (GRCm39) |
L108P |
probably damaging |
Het |
| Washc2 |
C |
A |
6: 116,204,379 (GRCm39) |
P429Q |
probably damaging |
Het |
| Wipi1 |
A |
G |
11: 109,502,137 (GRCm39) |
M1T |
probably null |
Het |
| Zfp438 |
A |
G |
18: 5,214,712 (GRCm39) |
V82A |
probably damaging |
Het |
| Zfp853 |
G |
C |
5: 143,273,493 (GRCm39) |
A724G |
unknown |
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 |
|
|
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'- AAAAGTGGCAAAGCATTCCG -3'
(R):5'- AAAAGCAGCCTGCCTCAGTTAC -3'
Sequencing Primer
(F):5'- TGGCAAAGCATTCCGTACCATTG -3'
(R):5'- TATTATCTGGCAAGAGAACGGCCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation