Incidental Mutation 'R4350:Rftn2'
| ID |
328456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rftn2
|
| Ensembl Gene |
ENSMUSG00000025978 |
| Gene Name |
raftlin family member 2 |
| Synonyms |
3222401M22Rik, 2700010E02Rik |
| MMRRC Submission |
041105-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4350 (G1)
|
| Quality Score |
166 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
55209318-55265941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55233440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 372
(T372A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027121]
[ENSMUST00000132055]
|
| AlphaFold |
Q8CHX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027121
AA Change: T372A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: T372A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
439 |
2e-180 |
PFAM |
|
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132055
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(12) : Targeted, other(2) Gene trapped(10)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,498,020 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,555,119 (GRCm39) |
D402G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,827,640 (GRCm39) |
E954G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,169 (GRCm39) |
M115V |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,950,393 (GRCm39) |
V732A |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,036 (GRCm39) |
I457V |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,848,220 (GRCm39) |
F165L |
probably damaging |
Het |
| Gcn1 |
G |
T |
5: 115,741,389 (GRCm39) |
R1476L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,012 (GRCm39) |
S256G |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rchy1 |
T |
C |
5: 92,105,813 (GRCm39) |
D45G |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,006,293 (GRCm39) |
P896S |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rpl7a-ps3 |
T |
C |
15: 36,308,283 (GRCm39) |
|
noncoding transcript |
Het |
| Sox7 |
A |
G |
14: 64,185,995 (GRCm39) |
T344A |
probably benign |
Het |
| Sppl2b |
T |
C |
10: 80,698,560 (GRCm39) |
Y127H |
probably benign |
Het |
| Srsf12 |
T |
C |
4: 33,223,612 (GRCm39) |
V37A |
possibly damaging |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,118,154 (GRCm39) |
C1705S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,691,117 (GRCm39) |
T474A |
probably benign |
Het |
| Tubgcp6 |
G |
A |
15: 88,988,198 (GRCm39) |
P925L |
probably benign |
Het |
|
| Other mutations in Rftn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Rftn2
|
APN |
1 |
55,243,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01691:Rftn2
|
APN |
1 |
55,253,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Rftn2
|
APN |
1 |
55,245,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02458:Rftn2
|
APN |
1 |
55,250,351 (GRCm39) |
nonsense |
probably null |
|
|
1mM(1):Rftn2
|
UTSW |
1 |
55,245,754 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0446:Rftn2
|
UTSW |
1 |
55,253,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1167:Rftn2
|
UTSW |
1 |
55,243,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1172:Rftn2
|
UTSW |
1 |
55,250,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4171:Rftn2
|
UTSW |
1 |
55,253,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4487:Rftn2
|
UTSW |
1 |
55,241,311 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4833:Rftn2
|
UTSW |
1 |
55,253,399 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4863:Rftn2
|
UTSW |
1 |
55,211,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5719:Rftn2
|
UTSW |
1 |
55,253,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6801:Rftn2
|
UTSW |
1 |
55,233,418 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6937:Rftn2
|
UTSW |
1 |
55,233,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6939:Rftn2
|
UTSW |
1 |
55,233,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7344:Rftn2
|
UTSW |
1 |
55,265,311 (GRCm39) |
nonsense |
probably null |
|
|
R7401:Rftn2
|
UTSW |
1 |
55,233,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7517:Rftn2
|
UTSW |
1 |
55,234,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:Rftn2
|
UTSW |
1 |
55,253,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9207:Rftn2
|
UTSW |
1 |
55,224,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9501:Rftn2
|
UTSW |
1 |
55,241,355 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0022:Rftn2
|
UTSW |
1 |
55,253,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATTTGAGGCCCTTGGGAC -3'
(R):5'- GACACTGTTCCACTGGACAC -3'
Sequencing Primer
(F):5'- GGACAATACCAATGACAGGGACC -3'
(R):5'- ATCCTCGCTACTGTGTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation