Incidental Mutation 'IGL02811:Rufy2'
| ID |
360593 |
| 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 # |
IGL02811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62816002-62852989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62836106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 345
(D345G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115339
(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 |
possibly damaging
Transcript: ENSMUST00000119567
AA Change: D345G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: D345G
| 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 |
possibly damaging
Transcript: ENSMUST00000122231
AA Change: D311G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
AA Change: D311G
| 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 |
noncoding transcript
Transcript: ENSMUST00000129470
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131718
AA Change: D345G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
AA Change: D345G
| 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 damaging
Transcript: ENSMUST00000143594
AA Change: D345G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
AA Change: D345G
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
C |
T |
13: 4,562,682 (GRCm39) |
R90H |
possibly damaging |
Het |
| BC048679 |
A |
T |
7: 81,144,937 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,832,221 (GRCm39) |
R984G |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,285 (GRCm39) |
I1139T |
possibly damaging |
Het |
| Coq3 |
A |
G |
4: 21,900,273 (GRCm39) |
R167G |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,658,130 (GRCm39) |
K670E |
possibly damaging |
Het |
| Crtac1 |
T |
C |
19: 42,322,350 (GRCm39) |
E130G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,196,069 (GRCm39) |
T426A |
probably benign |
Het |
| Dimt1 |
T |
C |
13: 107,084,175 (GRCm39) |
|
probably benign |
Het |
| Dnal1 |
G |
A |
12: 84,178,166 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
C |
7: 80,029,589 (GRCm39) |
Y631C |
probably damaging |
Het |
| Hemk1 |
A |
T |
9: 107,208,750 (GRCm39) |
V149E |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,657,076 (GRCm39) |
V397A |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,026 (GRCm39) |
L2028* |
probably null |
Het |
| Krt33b |
C |
A |
11: 99,920,395 (GRCm39) |
C86F |
probably benign |
Het |
| Lmx1a |
A |
G |
1: 167,618,943 (GRCm39) |
I101V |
probably benign |
Het |
| Mlh1 |
A |
G |
9: 111,100,582 (GRCm39) |
V4A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,944,718 (GRCm39) |
I440V |
possibly damaging |
Het |
| Mrpl35 |
A |
G |
6: 71,795,804 (GRCm39) |
Y28H |
probably benign |
Het |
| Oas3 |
C |
A |
5: 120,902,387 (GRCm39) |
E636D |
unknown |
Het |
| Olfm4 |
T |
A |
14: 80,259,113 (GRCm39) |
S454T |
probably damaging |
Het |
| Or4l15 |
T |
A |
14: 50,197,590 (GRCm39) |
|
probably benign |
Het |
| Or52ab2 |
T |
C |
7: 102,970,140 (GRCm39) |
I174T |
probably benign |
Het |
| Otoa |
G |
T |
7: 120,717,878 (GRCm39) |
G365V |
possibly damaging |
Het |
| Pdgfrl |
G |
T |
8: 41,430,005 (GRCm39) |
R124L |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,411,851 (GRCm39) |
V380E |
probably damaging |
Het |
| Shq1 |
A |
T |
6: 100,607,945 (GRCm39) |
I322N |
probably damaging |
Het |
| Skint4 |
C |
A |
4: 111,944,200 (GRCm39) |
T4K |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,107,149 (GRCm39) |
I469T |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,607,988 (GRCm39) |
R319G |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,793,348 (GRCm39) |
I507M |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,923,458 (GRCm39) |
I271N |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,858,335 (GRCm39) |
D2157G |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,231,899 (GRCm39) |
V586D |
probably benign |
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 |
|
IGL03244:Rufy2
|
APN |
10 |
62,840,483 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
2015-12-18 |
Incidental Mutation