Incidental Mutation 'R7444:Rftn1'
| ID |
577194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rftn1
|
| Ensembl Gene |
ENSMUSG00000039316 |
| Gene Name |
raftlin lipid raft linker 1 |
| Synonyms |
2310015N21Rik |
| MMRRC Submission |
045520-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R7444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
50300287-50497525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50354435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 309
(N309I)
|
| 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: N309I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: N309I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
473 |
1.3e-219 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113195
AA Change: N31I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
AA Change: N31I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
207 |
1.5e-104 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,984,787 (GRCm39) |
M2024V |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,745,831 (GRCm39) |
Q1673L |
|
Het |
| Atic |
G |
T |
1: 71,602,946 (GRCm39) |
V107L |
probably benign |
Het |
| B2m |
A |
G |
2: 121,981,416 (GRCm39) |
N44D |
probably damaging |
Het |
| Bud13 |
A |
G |
9: 46,209,799 (GRCm39) |
D636G |
probably damaging |
Het |
| Cenpk |
T |
C |
13: 104,386,025 (GRCm39) |
*307Q |
probably null |
Het |
| Cep68 |
A |
G |
11: 20,189,438 (GRCm39) |
S525P |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,193 (GRCm39) |
L105P |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,220,079 (GRCm39) |
M630L |
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,520,782 (GRCm39) |
Y399C |
probably damaging |
Het |
| Dars2 |
G |
T |
1: 160,874,454 (GRCm39) |
P412T |
possibly damaging |
Het |
| E2f8 |
A |
T |
7: 48,517,927 (GRCm39) |
I665N |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,364,553 (GRCm39) |
I652N |
probably damaging |
Het |
| Ermn |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
2: 57,938,079 (GRCm39) |
|
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,502,387 (GRCm39) |
T414A |
probably benign |
Het |
| Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
| Fosb |
T |
C |
7: 19,041,199 (GRCm39) |
D98G |
possibly damaging |
Het |
| Gm5773 |
T |
C |
3: 93,680,850 (GRCm39) |
L174S |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,854,124 (GRCm39) |
V258E |
possibly damaging |
Het |
| Inf2 |
T |
A |
12: 112,571,821 (GRCm39) |
W617R |
unknown |
Het |
| Irf7 |
T |
A |
7: 140,843,599 (GRCm39) |
I358F |
probably damaging |
Het |
| Lipo3 |
A |
G |
19: 33,535,663 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
A |
T |
3: 104,404,829 (GRCm39) |
L93* |
probably null |
Het |
| Lzts1 |
C |
T |
8: 69,588,331 (GRCm39) |
V542M |
probably damaging |
Het |
| Mefv |
T |
A |
16: 3,533,386 (GRCm39) |
H295L |
probably benign |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nat8f6 |
G |
C |
6: 85,786,112 (GRCm39) |
S12R |
probably benign |
Het |
| Nipal4 |
G |
T |
11: 46,057,062 (GRCm39) |
N14K |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,095,595 (GRCm39) |
C824* |
probably null |
Het |
| Npat |
T |
C |
9: 53,460,210 (GRCm39) |
S53P |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,477,464 (GRCm39) |
E549G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,554 (GRCm39) |
L64P |
probably damaging |
Het |
| Or12e8 |
T |
A |
2: 87,188,444 (GRCm39) |
L219I |
possibly damaging |
Het |
| Or1r1 |
T |
C |
11: 73,874,576 (GRCm39) |
N286S |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,103 (GRCm39) |
K23R |
probably benign |
Het |
| Or4f62 |
A |
T |
2: 111,987,060 (GRCm39) |
I255F |
probably damaging |
Het |
| Or5p55 |
T |
A |
7: 107,566,811 (GRCm39) |
V69E |
probably damaging |
Het |
| Or6c6b |
T |
C |
10: 129,147,559 (GRCm39) |
M61T |
probably benign |
Het |
| Or6z6 |
C |
A |
7: 6,490,919 (GRCm39) |
W311L |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,672 (GRCm39) |
I334K |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,505 (GRCm39) |
L605P |
probably damaging |
Het |
| Pced1a |
G |
T |
2: 130,263,979 (GRCm39) |
H224Q |
probably damaging |
Het |
| Pde6b |
C |
A |
5: 108,575,008 (GRCm39) |
S623* |
probably null |
Het |
| Pgr |
T |
C |
9: 8,946,883 (GRCm39) |
L708P |
probably damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,097,455 (GRCm39) |
I207T |
possibly damaging |
Het |
| Prkag3 |
A |
T |
1: 74,786,425 (GRCm39) |
D173E |
probably benign |
Het |
| Prrt4 |
A |
G |
6: 29,176,516 (GRCm39) |
F270L |
probably benign |
Het |
| Ptdss2 |
C |
A |
7: 140,732,997 (GRCm39) |
P260Q |
possibly damaging |
Het |
| Rgs12 |
T |
C |
5: 35,183,287 (GRCm39) |
V978A |
possibly damaging |
Het |
| Rnf111 |
T |
C |
9: 70,348,125 (GRCm39) |
Y816C |
probably damaging |
Het |
| Rnf208 |
C |
T |
2: 25,133,326 (GRCm39) |
P7S |
probably damaging |
Het |
| Rnf24 |
T |
C |
2: 131,155,215 (GRCm39) |
D4G |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,570,349 (GRCm39) |
I4925L |
probably benign |
Het |
| S1pr5 |
A |
T |
9: 21,156,378 (GRCm39) |
V16D |
possibly damaging |
Het |
| Scgb1b24 |
A |
G |
7: 33,443,566 (GRCm39) |
D75G |
possibly damaging |
Het |
| Setdb2 |
A |
T |
14: 59,660,794 (GRCm39) |
C116* |
probably null |
Het |
| Sh3rf2 |
G |
A |
18: 42,234,604 (GRCm39) |
R129Q |
probably damaging |
Het |
| Spata31d1d |
C |
T |
13: 59,875,007 (GRCm39) |
V843I |
probably benign |
Het |
| Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
| Tecrl |
T |
A |
5: 83,502,915 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,066,590 (GRCm39) |
S2007T |
possibly damaging |
Het |
| Tomm7 |
C |
A |
5: 24,049,155 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
A |
C |
11: 73,135,030 (GRCm39) |
N409T |
possibly damaging |
Het |
| Try5 |
T |
A |
6: 41,288,299 (GRCm39) |
Y218F |
probably benign |
Het |
| Tspan5 |
A |
T |
3: 138,603,883 (GRCm39) |
I196F |
possibly damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,489,405 (GRCm39) |
C709* |
probably null |
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 |
|
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'- ATCTGCCCAAGCTATGCTAATTAG -3'
(R):5'- ACGCGCTGAACCCAGTTTAG -3'
Sequencing Primer
(F):5'- GCCCAAGCTATGCTAATTAGAAATC -3'
(R):5'- CCCAGTTTAGCAAATTGGTTCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation