Incidental Mutation 'R8300:Rftn1'
ID |
639227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rftn1
|
Ensembl Gene |
ENSMUSG00000039316 |
Gene Name |
raftlin lipid raft linker 1 |
Synonyms |
2310015N21Rik |
MMRRC Submission |
067788-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R8300 (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% (64/64) |
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 |
AB124611 |
A |
G |
9: 21,437,561 (GRCm39) |
M1V |
probably null |
Het |
Abca12 |
T |
A |
1: 71,353,123 (GRCm39) |
N773I |
possibly damaging |
Het |
Adh7 |
A |
G |
3: 137,929,825 (GRCm39) |
E167G |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,804,555 (GRCm39) |
D622V |
|
Het |
Asf1b |
T |
A |
8: 84,695,805 (GRCm39) |
F149I |
possibly damaging |
Het |
Bach1 |
T |
C |
16: 87,515,996 (GRCm39) |
V179A |
probably benign |
Het |
C1ra |
C |
T |
6: 124,498,597 (GRCm39) |
A430V |
probably benign |
Het |
Cacna1c |
T |
A |
6: 118,575,717 (GRCm39) |
Q1944L |
|
Het |
Camkk1 |
T |
C |
11: 72,918,266 (GRCm39) |
V158A |
probably benign |
Het |
Ccdc152 |
T |
C |
15: 3,327,634 (GRCm39) |
T48A |
probably benign |
Het |
Cd180 |
A |
T |
13: 102,841,301 (GRCm39) |
M116L |
probably benign |
Het |
Clca3a2 |
C |
T |
3: 144,804,692 (GRCm39) |
G12R |
probably benign |
Het |
Coq8b |
T |
C |
7: 26,941,671 (GRCm39) |
V252A |
possibly damaging |
Het |
Cp |
A |
G |
3: 20,011,385 (GRCm39) |
|
probably benign |
Het |
Ctsj |
A |
T |
13: 61,150,285 (GRCm39) |
V238E |
probably damaging |
Het |
Ctsj |
C |
T |
13: 61,150,286 (GRCm39) |
V238I |
probably damaging |
Het |
Cxcr2 |
A |
T |
1: 74,198,333 (GRCm39) |
M276L |
probably benign |
Het |
Drd5 |
T |
C |
5: 38,477,672 (GRCm39) |
S222P |
probably damaging |
Het |
Egflam |
T |
C |
15: 7,283,932 (GRCm39) |
D269G |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,342,687 (GRCm39) |
R64Q |
probably benign |
Het |
Fyb2 |
A |
T |
4: 104,857,689 (GRCm39) |
K622M |
probably damaging |
Het |
Gm10220 |
T |
C |
5: 26,322,818 (GRCm39) |
E198G |
probably damaging |
Het |
Gm1527 |
A |
T |
3: 28,980,744 (GRCm39) |
N615Y |
possibly damaging |
Het |
Gpatch3 |
A |
G |
4: 133,307,140 (GRCm39) |
H308R |
probably damaging |
Het |
Gsdmc4 |
A |
G |
15: 63,766,790 (GRCm39) |
I261T |
probably damaging |
Het |
Gsg1 |
T |
G |
6: 135,214,580 (GRCm39) |
T310P |
probably benign |
Het |
Hecw2 |
T |
C |
1: 53,926,775 (GRCm39) |
S1075G |
probably null |
Het |
Hyal6 |
A |
G |
6: 24,734,087 (GRCm39) |
T7A |
probably benign |
Het |
Ighv1-59 |
T |
G |
12: 115,298,987 (GRCm39) |
Q22H |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,838,643 (GRCm39) |
M1853K |
possibly damaging |
Het |
Maco1 |
A |
G |
4: 134,555,762 (GRCm39) |
I237T |
probably benign |
Het |
Mccc1 |
A |
T |
3: 36,017,753 (GRCm39) |
M649K |
probably damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nek4 |
A |
G |
14: 30,692,352 (GRCm39) |
D399G |
|
Het |
Obscn |
T |
C |
11: 58,933,896 (GRCm39) |
K5323E |
probably benign |
Het |
Or6p1 |
T |
A |
1: 174,258,100 (GRCm39) |
Y35* |
probably null |
Het |
Paics |
T |
C |
5: 77,109,253 (GRCm39) |
V196A |
probably damaging |
Het |
Pced1a |
C |
A |
2: 130,266,157 (GRCm39) |
|
probably benign |
Het |
Pierce1 |
A |
T |
2: 28,352,435 (GRCm39) |
Y109* |
probably null |
Het |
Pik3cb |
A |
G |
9: 98,928,711 (GRCm39) |
V848A |
probably damaging |
Het |
Ppm1h |
T |
A |
10: 122,618,118 (GRCm39) |
N92K |
probably damaging |
Het |
Ppp1r16b |
T |
A |
2: 158,588,571 (GRCm39) |
I152N |
probably damaging |
Het |
Pramel7 |
A |
G |
2: 87,319,967 (GRCm39) |
M442T |
probably benign |
Het |
Prex2 |
A |
T |
1: 11,301,942 (GRCm39) |
N1415I |
possibly damaging |
Het |
Pum3 |
T |
C |
19: 27,399,773 (GRCm39) |
K220R |
probably benign |
Het |
Qrich2 |
G |
T |
11: 116,347,175 (GRCm39) |
D1216E |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,838,833 (GRCm39) |
|
silent |
Het |
Rimbp2 |
C |
T |
5: 128,874,835 (GRCm39) |
R252Q |
probably damaging |
Het |
Rnpep |
T |
C |
1: 135,211,397 (GRCm39) |
H117R |
probably benign |
Het |
Serpinb10 |
A |
G |
1: 107,474,456 (GRCm39) |
D206G |
probably benign |
Het |
Sh3tc1 |
C |
T |
5: 35,854,792 (GRCm39) |
V1302M |
probably benign |
Het |
Slmap |
T |
C |
14: 26,139,374 (GRCm39) |
E780G |
possibly damaging |
Het |
Snrpg |
T |
A |
6: 86,353,558 (GRCm39) |
V46E |
probably damaging |
Het |
Spef1l |
A |
T |
7: 139,557,091 (GRCm39) |
I98N |
probably damaging |
Het |
Sptbn5 |
T |
A |
2: 119,878,058 (GRCm39) |
Q953L |
noncoding transcript |
Het |
Stard9 |
C |
T |
2: 120,535,250 (GRCm39) |
L3836F |
possibly damaging |
Het |
Tcerg1 |
T |
A |
18: 42,683,137 (GRCm39) |
M619K |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tnfrsf9 |
C |
T |
4: 151,017,556 (GRCm39) |
T137M |
probably damaging |
Het |
Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
Trak1 |
G |
T |
9: 121,289,565 (GRCm39) |
E626* |
probably null |
Het |
Trio |
G |
T |
15: 27,855,108 (GRCm39) |
H750Q |
possibly damaging |
Het |
U2af2 |
T |
C |
7: 5,070,414 (GRCm39) |
|
probably benign |
Het |
Vmn2r3 |
T |
C |
3: 64,182,347 (GRCm39) |
I451V |
probably benign |
Het |
Zfp930 |
A |
T |
8: 69,680,998 (GRCm39) |
N230I |
probably benign |
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 |
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 |
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'- AGCCTTTGTGAGATCTGCCC -3'
(R):5'- CAAATTGGTTCTGTGGGCTAACC -3'
Sequencing Primer
(F):5'- TGAGATCTGCCCAAGCTATG -3'
(R):5'- GGTTCTGTGGGCTAACCTCTCTC -3'
|
Posted On |
2020-07-28 |