Incidental Mutation 'IGL03244:Rufy2'
| ID |
414339 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rufy2
|
| Ensembl Gene |
ENSMUSG00000020070 |
| Gene Name |
RUN and FYVE domain-containing 2 |
| Synonyms |
ZFYVE13, 2610111M19Rik, LZ-FYVE, Denn |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03244
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62816002-62852989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62840483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 418
(E418G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062600]
[ENSMUST00000119567]
[ENSMUST00000122231]
[ENSMUST00000131718]
[ENSMUST00000143594]
|
| AlphaFold |
Q8R4C2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062600
|
| SMART Domains |
Protein: ENSMUSP00000059982
Gene: ENSMUSG00000020070
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
105 |
167 |
3.02e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119567
AA Change: E418G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: E418G
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
105 |
167 |
3.02e-22 |
SMART |
|
coiled coil region
|
210 |
268 |
N/A |
INTRINSIC |
|
coiled coil region
|
326 |
515 |
N/A |
INTRINSIC |
|
FYVE
|
532 |
599 |
6.99e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122231
|
| SMART Domains |
Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RUN
|
45 |
100 |
6.2e-9 |
PFAM |
|
low complexity region
|
110 |
123 |
N/A |
INTRINSIC |
|
coiled coil region
|
176 |
234 |
N/A |
INTRINSIC |
|
coiled coil region
|
292 |
372 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131718
|
| SMART Domains |
Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
105 |
167 |
3.02e-22 |
SMART |
|
coiled coil region
|
210 |
268 |
N/A |
INTRINSIC |
|
coiled coil region
|
326 |
406 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143594
|
| SMART Domains |
Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
105 |
167 |
3.02e-22 |
SMART |
|
coiled coil region
|
210 |
268 |
N/A |
INTRINSIC |
|
coiled coil region
|
326 |
406 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143726
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,756 (GRCm39) |
Y233H |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,885,211 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,964,342 (GRCm39) |
Y696C |
probably damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,370,292 (GRCm39) |
D112E |
probably damaging |
Het |
| B3gat3 |
T |
C |
19: 8,903,215 (GRCm39) |
Y191H |
probably damaging |
Het |
| Capns2 |
T |
C |
8: 93,628,738 (GRCm39) |
I209T |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,905,479 (GRCm39) |
I303T |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,199,672 (GRCm39) |
S817R |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,729,683 (GRCm39) |
L36* |
probably null |
Het |
| Cers4 |
T |
A |
8: 4,566,878 (GRCm39) |
V60E |
probably damaging |
Het |
| Ces2e |
T |
C |
8: 105,655,451 (GRCm39) |
Y125H |
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,742,489 (GRCm39) |
E497G |
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,864 (GRCm39) |
M575K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,655 (GRCm39) |
V1243E |
probably damaging |
Het |
| Elf2 |
A |
T |
3: 51,165,193 (GRCm39) |
Y270* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,875,429 (GRCm39) |
L844S |
unknown |
Het |
| F13a1 |
A |
T |
13: 37,172,870 (GRCm39) |
I170N |
possibly damaging |
Het |
| Gm16506 |
T |
A |
14: 43,961,603 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,653,797 (GRCm39) |
F463L |
probably damaging |
Het |
| H2-M10.2 |
A |
T |
17: 36,596,463 (GRCm39) |
N127K |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,495,140 (GRCm39) |
Y691C |
probably damaging |
Het |
| Mbip |
A |
C |
12: 56,384,547 (GRCm39) |
|
probably null |
Het |
| Or9k2 |
T |
A |
10: 129,998,269 (GRCm39) |
K309* |
probably null |
Het |
| Plod1 |
C |
T |
4: 148,007,580 (GRCm39) |
|
probably null |
Het |
| Primpol |
A |
G |
8: 47,039,475 (GRCm39) |
W382R |
probably damaging |
Het |
| Samm50 |
T |
C |
15: 84,098,341 (GRCm39) |
V460A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,859,329 (GRCm39) |
V460A |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,698,442 (GRCm39) |
H453R |
probably benign |
Het |
| Slc22a22 |
A |
G |
15: 57,112,948 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,234,529 (GRCm39) |
D763V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,504,167 (GRCm39) |
|
probably benign |
Het |
| Tppp |
G |
T |
13: 74,169,535 (GRCm39) |
V92F |
possibly damaging |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,489 (GRCm39) |
L96F |
probably damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,340,435 (GRCm39) |
A13S |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,820,933 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
C |
A |
11: 121,404,513 (GRCm39) |
G121* |
probably null |
Het |
|
| Other mutations in Rufy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Rufy2
|
APN |
10 |
62,826,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01516:Rufy2
|
APN |
10 |
62,847,212 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02811:Rufy2
|
APN |
10 |
62,836,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4434001:Rufy2
|
UTSW |
10 |
62,826,845 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0071:Rufy2
|
UTSW |
10 |
62,824,946 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0448:Rufy2
|
UTSW |
10 |
62,840,515 (GRCm39) |
missense |
probably benign |
|
|
R0496:Rufy2
|
UTSW |
10 |
62,828,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Rufy2
|
UTSW |
10 |
62,833,873 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0731:Rufy2
|
UTSW |
10 |
62,847,623 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1236:Rufy2
|
UTSW |
10 |
62,830,549 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1414:Rufy2
|
UTSW |
10 |
62,837,978 (GRCm39) |
nonsense |
probably null |
|
|
R1600:Rufy2
|
UTSW |
10 |
62,842,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1626:Rufy2
|
UTSW |
10 |
62,831,151 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2035:Rufy2
|
UTSW |
10 |
62,842,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2141:Rufy2
|
UTSW |
10 |
62,826,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2962:Rufy2
|
UTSW |
10 |
62,836,039 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3874:Rufy2
|
UTSW |
10 |
62,833,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Rufy2
|
UTSW |
10 |
62,840,551 (GRCm39) |
nonsense |
probably null |
|
|
R4321:Rufy2
|
UTSW |
10 |
62,818,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Rufy2
|
UTSW |
10 |
62,837,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Rufy2
|
UTSW |
10 |
62,833,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Rufy2
|
UTSW |
10 |
62,833,748 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7714:Rufy2
|
UTSW |
10 |
62,838,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8278:Rufy2
|
UTSW |
10 |
62,843,472 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8777:Rufy2
|
UTSW |
10 |
62,833,660 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8777-TAIL:Rufy2
|
UTSW |
10 |
62,833,660 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9181:Rufy2
|
UTSW |
10 |
62,836,166 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9756:Rufy2
|
UTSW |
10 |
62,818,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation