Incidental Mutation 'R4487:Rftn2'
| ID |
331643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rftn2
|
| Ensembl Gene |
ENSMUSG00000025978 |
| Gene Name |
raftlin family member 2 |
| Synonyms |
3222401M22Rik, 2700010E02Rik |
| MMRRC Submission |
041743-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4487 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
55209318-55265941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55241311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 330
(Y330H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027121]
[ENSMUST00000114428]
[ENSMUST00000132055]
|
| AlphaFold |
Q8CHX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027121
|
| SMART Domains |
Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
439 |
2e-180 |
PFAM |
|
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114428
AA Change: Y330H
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110071
Gene: ENSMUSG00000025978
AA Change: Y330H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Raftlin
|
1 |
319 |
8.4e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133294
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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 |
|---|
| 2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
| C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
| Krt76 |
T |
C |
15: 101,798,917 (GRCm39) |
K256R |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,064,046 (GRCm39) |
D392G |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,960,547 (GRCm39) |
E18V |
probably damaging |
Het |
| Nepro |
A |
G |
16: 44,556,089 (GRCm39) |
K416E |
probably damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
| Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
| Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
| Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,058,467 (GRCm39) |
H580Y |
probably benign |
Het |
| Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
| Rusf1 |
T |
C |
7: 127,887,530 (GRCm39) |
D24G |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Snx1 |
A |
T |
9: 65,996,877 (GRCm39) |
V459E |
possibly damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
| Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
R4350:Rftn2
|
UTSW |
1 |
55,233,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATGGCGTGGAAGAATGTCTG -3'
(R):5'- TAGTGAGAACATTGGTGTGGCAC -3'
Sequencing Primer
(F):5'- TGTCTGAAAAGACATTCCAGCTGC -3'
(R):5'- GAGGCTCCAAGGCAGCTTATTTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation