Incidental Mutation 'R2962:Rufy2'
| ID |
255929 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2962 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62816002-62852989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 62836039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 323
(V323F)
|
| 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 damaging
Transcript: ENSMUST00000119567
AA Change: V323F
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: V323F
| 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: V289F
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
AA Change: V289F
| 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 |
possibly damaging
Transcript: ENSMUST00000131718
AA Change: V323F
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
AA Change: V323F
| 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 |
possibly damaging
Transcript: ENSMUST00000143594
AA Change: V323F
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
AA Change: V323F
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd24a |
A |
G |
10: 43,455,313 (GRCm39) |
T22A |
probably benign |
Het |
| Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
| Cog3 |
A |
G |
14: 75,977,974 (GRCm39) |
|
probably null |
Het |
| Gm3371 |
A |
T |
14: 44,646,155 (GRCm39) |
N103K |
probably benign |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Hoxc10 |
A |
G |
15: 102,875,735 (GRCm39) |
Y148C |
probably damaging |
Het |
| Jade1 |
C |
G |
3: 41,567,762 (GRCm39) |
T610S |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lhfpl7 |
T |
C |
5: 113,385,922 (GRCm39) |
V123A |
possibly damaging |
Het |
| Malt1 |
A |
G |
18: 65,581,406 (GRCm39) |
H278R |
probably benign |
Het |
| Mlxip |
C |
A |
5: 123,578,887 (GRCm39) |
R178S |
probably damaging |
Het |
| Or13a25 |
A |
T |
7: 140,247,862 (GRCm39) |
M214L |
probably benign |
Het |
| Pdxk |
A |
G |
10: 78,279,667 (GRCm39) |
L236P |
probably damaging |
Het |
| Plekhg3 |
G |
A |
12: 76,619,433 (GRCm39) |
|
probably null |
Het |
| Serpinb7 |
A |
G |
1: 107,379,456 (GRCm39) |
T288A |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,650,323 (GRCm39) |
C1628* |
probably null |
Het |
| Tgtp2 |
A |
G |
11: 48,950,363 (GRCm39) |
S70P |
probably damaging |
Het |
| Trank1 |
C |
T |
9: 111,181,148 (GRCm39) |
T390I |
probably damaging |
Het |
| Trim31 |
T |
C |
17: 37,210,796 (GRCm39) |
S143P |
probably damaging |
Het |
| Ube3c |
C |
A |
5: 29,863,416 (GRCm39) |
A897D |
possibly damaging |
Het |
| Unc79 |
A |
T |
12: 103,061,378 (GRCm39) |
T1050S |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
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 |
|
IGL02811:Rufy2
|
APN |
10 |
62,836,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAACATCTTCATCTGGTTGGT -3'
(R):5'- AGCAATACCAAGGGTCAAAGAAC -3'
Sequencing Primer
(F):5'- GGACAGATGAGATCTCACTCTCTAG -3'
(R):5'- GAACATTGAGTACCTGCAGCCTTTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation