Incidental Mutation 'R8248:Rftn1'
| ID |
640402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rftn1
|
| Ensembl Gene |
ENSMUSG00000039316 |
| Gene Name |
raftlin lipid raft linker 1 |
| Synonyms |
2310015N21Rik |
| MMRRC Submission |
067675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8248 (G1)
|
| Quality Score |
221.999 |
|
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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
C |
16: 19,702,556 (GRCm39) |
D24G |
noncoding transcript |
Het |
| Adam32 |
A |
G |
8: 25,391,486 (GRCm39) |
S343P |
possibly damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,847,991 (GRCm39) |
D466E |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,310 (GRCm39) |
V198E |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,731,434 (GRCm39) |
H658L |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,366,072 (GRCm39) |
I781N |
probably damaging |
Het |
| Bloc1s6 |
A |
T |
2: 122,584,565 (GRCm39) |
R47* |
probably null |
Het |
| Clk2 |
G |
A |
3: 89,080,811 (GRCm39) |
V266M |
probably damaging |
Het |
| Cul9 |
A |
C |
17: 46,840,940 (GRCm39) |
Y777D |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dcp1a |
C |
T |
14: 30,201,555 (GRCm39) |
|
probably benign |
Het |
| Dnajb2 |
T |
G |
1: 75,220,226 (GRCm39) |
D248E |
|
Het |
| Dpy19l1 |
T |
C |
9: 24,414,191 (GRCm39) |
H79R |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,784,371 (GRCm39) |
S643P |
probably damaging |
Het |
| Evi5 |
A |
G |
5: 107,966,753 (GRCm39) |
|
probably null |
Het |
| Fam76b |
T |
C |
9: 13,742,398 (GRCm39) |
C110R |
probably damaging |
Het |
| Galnt7 |
T |
A |
8: 57,991,222 (GRCm39) |
K429N |
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,551,950 (GRCm39) |
C104S |
probably damaging |
Het |
| Gm7298 |
A |
C |
6: 121,764,402 (GRCm39) |
H1427P |
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,255,310 (GRCm39) |
I87F |
probably damaging |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Gpr25 |
C |
A |
1: 136,188,415 (GRCm39) |
R66L |
probably benign |
Het |
| H2-Q2 |
A |
G |
17: 35,563,841 (GRCm39) |
N241D |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,144,881 (GRCm39) |
D179G |
probably benign |
Het |
| Itch |
T |
C |
2: 155,048,303 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,712,052 (GRCm39) |
V913A |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,225,354 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,937,375 (GRCm39) |
I655T |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,581,667 (GRCm39) |
S817R |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,755,733 (GRCm39) |
M503L |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,875,229 (GRCm39) |
T1380A |
probably damaging |
Het |
| Mfap1a |
G |
T |
2: 121,336,976 (GRCm39) |
T16K |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,960,586 (GRCm39) |
T773I |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nudt7 |
A |
G |
8: 114,878,737 (GRCm39) |
Y255C |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,406,942 (GRCm39) |
I2393R |
probably damaging |
Het |
| Pmm1 |
A |
C |
15: 81,844,932 (GRCm39) |
L24R |
possibly damaging |
Het |
| Pram1 |
T |
C |
17: 33,860,138 (GRCm39) |
V235A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,877 (GRCm39) |
T599A |
unknown |
Het |
| Prpf40b |
A |
G |
15: 99,214,166 (GRCm39) |
K812E |
unknown |
Het |
| Qars1 |
G |
A |
9: 108,386,651 (GRCm39) |
A155T |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,184,478 (GRCm39) |
|
probably benign |
Het |
| Rom1 |
T |
A |
19: 8,906,045 (GRCm39) |
R165W |
probably damaging |
Het |
| Rps6kb2 |
T |
A |
19: 4,206,987 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,768,546 (GRCm39) |
W2808R |
probably damaging |
Het |
| Sh3gl1 |
A |
G |
17: 56,326,038 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
A |
T |
19: 8,347,563 (GRCm39) |
M279K |
probably benign |
Het |
| Snx11 |
A |
G |
11: 96,660,759 (GRCm39) |
S184P |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,640,722 (GRCm39) |
C692R |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,700,104 (GRCm39) |
N982S |
probably damaging |
Het |
| Stac |
T |
A |
9: 111,422,813 (GRCm39) |
D270V |
probably benign |
Het |
| Syn3 |
T |
A |
10: 85,970,885 (GRCm39) |
I246F |
probably benign |
Het |
| Tnr |
T |
C |
1: 159,719,663 (GRCm39) |
V980A |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,419,001 (GRCm39) |
A47E |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,936 (GRCm39) |
N192S |
probably benign |
Het |
| Zmym4 |
C |
A |
4: 126,799,162 (GRCm39) |
V725L |
possibly 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 |
|
R8164: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'- TAGCCTTTGTGAGATCTGCCC -3'
(R):5'- CAAATTGGTTCTGTGGGCTAAC -3'
Sequencing Primer
(F):5'- TGAGATCTGCCCAAGCTATG -3'
(R):5'- AATTGGTTCTGTGGGCTAACCTCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation