Incidental Mutation 'R8271:Rftn1'
ID |
637747 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rftn1
|
Ensembl Gene |
ENSMUSG00000039316 |
Gene Name |
raftlin lipid raft linker 1 |
Synonyms |
2310015N21Rik |
MMRRC Submission |
067652-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R8271 (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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (65/65) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,736,212 (GRCm39) |
I202L |
probably benign |
Het |
Acadsb |
A |
T |
7: 131,045,423 (GRCm39) |
T452S |
unknown |
Het |
Ago2 |
A |
T |
15: 72,991,315 (GRCm39) |
L541Q |
probably damaging |
Het |
Ap2a2 |
A |
T |
7: 141,200,812 (GRCm39) |
E553V |
probably damaging |
Het |
Astn2 |
T |
C |
4: 65,910,663 (GRCm39) |
K442E |
unknown |
Het |
Bicd1 |
A |
G |
6: 149,414,633 (GRCm39) |
T449A |
probably benign |
Het |
Btn1a1 |
T |
A |
13: 23,645,919 (GRCm39) |
Q150L |
probably benign |
Het |
C1ra |
G |
A |
6: 124,499,610 (GRCm39) |
G599R |
probably damaging |
Het |
Camta2 |
T |
A |
11: 70,561,886 (GRCm39) |
Q1076L |
probably benign |
Het |
Capza2 |
T |
A |
6: 17,657,214 (GRCm39) |
C157S |
probably damaging |
Het |
Ccnk |
A |
G |
12: 108,162,114 (GRCm39) |
|
probably benign |
Het |
Chd3 |
T |
A |
11: 69,251,483 (GRCm39) |
D516V |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 99,999,832 (GRCm39) |
T197A |
probably benign |
Het |
Comp |
A |
G |
8: 70,829,110 (GRCm39) |
N260S |
probably damaging |
Het |
Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
Ddx60 |
T |
A |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
Defb22 |
C |
T |
2: 152,327,712 (GRCm39) |
V158I |
unknown |
Het |
Diaph3 |
T |
C |
14: 87,103,949 (GRCm39) |
S812G |
probably damaging |
Het |
Dohh |
G |
T |
10: 81,221,844 (GRCm39) |
Q79H |
probably benign |
Het |
Dyrk1b |
T |
G |
7: 27,882,080 (GRCm39) |
V147G |
probably benign |
Het |
Fastkd2 |
C |
T |
1: 63,787,183 (GRCm39) |
T539I |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,306,622 (GRCm39) |
D229N |
probably damaging |
Het |
Kcnv1 |
A |
T |
15: 44,972,754 (GRCm39) |
D376E |
probably benign |
Het |
Kif13a |
C |
A |
13: 46,906,057 (GRCm39) |
V1577F |
probably benign |
Het |
L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
Mcoln2 |
A |
C |
3: 145,898,179 (GRCm39) |
N100T |
unknown |
Het |
Mdh1b |
C |
T |
1: 63,759,164 (GRCm39) |
V143M |
possibly damaging |
Het |
Mfsd4b4 |
G |
T |
10: 39,768,101 (GRCm39) |
Q377K |
probably benign |
Het |
Mpv17l |
T |
C |
16: 13,762,584 (GRCm39) |
F122S |
probably damaging |
Het |
Mylk |
T |
C |
16: 34,742,949 (GRCm39) |
S1154P |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,760,261 (GRCm39) |
Y259C |
probably damaging |
Het |
Nek1 |
G |
A |
8: 61,558,646 (GRCm39) |
V931M |
probably benign |
Het |
Nkd2 |
C |
A |
13: 73,969,437 (GRCm39) |
G343V |
probably damaging |
Het |
Obox8 |
T |
A |
7: 14,065,928 (GRCm39) |
T197S |
probably benign |
Het |
Or10j5 |
T |
A |
1: 172,784,744 (GRCm39) |
C127* |
probably null |
Het |
Or13g1 |
G |
A |
7: 85,955,962 (GRCm39) |
R120C |
probably benign |
Het |
Or4b1b |
A |
G |
2: 90,112,616 (GRCm39) |
F101S |
possibly damaging |
Het |
Or5m11b |
T |
G |
2: 85,806,085 (GRCm39) |
M166R |
probably benign |
Het |
Or5m11b |
T |
C |
2: 85,805,766 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5p57 |
A |
G |
7: 107,664,980 (GRCm39) |
S342P |
probably damaging |
Het |
Or5t7 |
T |
A |
2: 86,507,218 (GRCm39) |
H153L |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,724,097 (GRCm39) |
S551T |
probably damaging |
Het |
Pcdha12 |
T |
A |
18: 37,154,953 (GRCm39) |
D557E |
probably damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,648,921 (GRCm39) |
D683E |
probably benign |
Het |
Plekhb1 |
A |
G |
7: 100,305,936 (GRCm39) |
|
probably benign |
Het |
Plekhg5 |
A |
G |
4: 152,187,464 (GRCm39) |
N90D |
probably damaging |
Het |
Pnpla1 |
A |
G |
17: 29,100,579 (GRCm39) |
D482G |
probably benign |
Het |
Rc3h1 |
A |
T |
1: 160,768,329 (GRCm39) |
|
probably benign |
Het |
Rfpl4 |
C |
T |
7: 5,113,539 (GRCm39) |
R214H |
probably benign |
Het |
Setd5 |
T |
C |
6: 113,092,031 (GRCm39) |
I284T |
possibly damaging |
Het |
Smurf1 |
C |
T |
5: 144,830,897 (GRCm39) |
E293K |
possibly damaging |
Het |
Tas2r106 |
A |
T |
6: 131,655,023 (GRCm39) |
I276N |
probably damaging |
Het |
Tbc1d2 |
C |
A |
4: 46,649,791 (GRCm39) |
A82S |
possibly damaging |
Het |
Tex19.2 |
A |
G |
11: 121,008,010 (GRCm39) |
I146T |
possibly damaging |
Het |
Tmem107 |
T |
G |
11: 68,962,281 (GRCm39) |
N79K |
probably damaging |
Het |
Tpsab1 |
A |
T |
17: 25,564,305 (GRCm39) |
S50T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,553,594 (GRCm39) |
K31008* |
probably null |
Het |
Ubox5 |
T |
C |
2: 130,441,629 (GRCm39) |
T353A |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,285,711 (GRCm39) |
H2445Q |
probably damaging |
Het |
Uvrag |
T |
C |
7: 98,537,698 (GRCm39) |
D499G |
probably benign |
Het |
Xndc1 |
A |
T |
7: 101,728,343 (GRCm39) |
N247I |
possibly damaging |
Het |
Yipf2 |
A |
T |
9: 21,501,291 (GRCm39) |
W226R |
probably damaging |
Het |
Zfp335 |
T |
A |
2: 164,739,973 (GRCm39) |
Q793L |
probably damaging |
Het |
Zfp385c |
A |
G |
11: 100,548,291 (GRCm39) |
S54P |
probably damaging |
Het |
Zpld2 |
G |
T |
4: 133,930,278 (GRCm39) |
T9K |
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 |
|
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 |
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'- CTAGCCTTTGTGAGATCTGCC -3'
(R):5'- AATTGGTTCTGTGGGCTAACCTC -3'
Sequencing Primer
(F):5'- TGAGATCTGCCCAAGCTATG -3'
(R):5'- GTGGGCTAACCTCTCTCTTTATC -3'
|
Posted On |
2020-07-28 |