Incidental Mutation 'R1236:Rufy2'
| ID |
152435 |
| 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 # |
R1236 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62816002-62852989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62830549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 217
(N217S)
|
| 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
AA Change: N217S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000059982
Gene: ENSMUSG00000020070
AA Change: N217S
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
105 |
167 |
3.02e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119567
AA Change: N217S
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: N217S
| 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
AA Change: N183S
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
AA Change: N183S
| 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 benign
Transcript: ENSMUST00000131718
AA Change: N217S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
AA Change: N217S
| 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
AA Change: N217S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
AA Change: N217S
| 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: ENSMUST00000148259
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,685,756 (GRCm39) |
Y360C |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,904,904 (GRCm39) |
H566L |
possibly damaging |
Het |
| Aqr |
G |
T |
2: 113,947,136 (GRCm39) |
F1015L |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,750,200 (GRCm39) |
L901H |
probably damaging |
Het |
| Col26a1 |
A |
G |
5: 136,783,780 (GRCm39) |
V229A |
probably benign |
Het |
| Cyp4a14 |
T |
C |
4: 115,349,367 (GRCm39) |
N231S |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,788,592 (GRCm39) |
|
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm37240 |
T |
A |
3: 84,435,003 (GRCm39) |
N13I |
probably benign |
Het |
| Kbtbd7 |
G |
T |
14: 79,665,272 (GRCm39) |
C368F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,444,020 (GRCm39) |
D418G |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 93,613,197 (GRCm39) |
M246V |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,319,242 (GRCm39) |
W31R |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Npepl1 |
T |
A |
2: 173,956,273 (GRCm39) |
|
probably null |
Het |
| Or6c212 |
A |
G |
10: 129,558,675 (GRCm39) |
V246A |
probably damaging |
Het |
| Or8b1 |
T |
C |
9: 38,399,525 (GRCm39) |
S67P |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,943,056 (GRCm39) |
L147P |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,043,766 (GRCm39) |
H173Q |
probably benign |
Het |
| Prlr |
C |
A |
15: 10,325,367 (GRCm39) |
T180K |
probably benign |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Sgcg |
T |
C |
14: 61,483,219 (GRCm39) |
M61V |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spint1 |
A |
G |
2: 119,076,054 (GRCm39) |
T217A |
probably benign |
Het |
| Tert |
T |
C |
13: 73,784,498 (GRCm39) |
L648P |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,187,152 (GRCm39) |
Y778* |
probably null |
Het |
| Zeb2 |
T |
A |
2: 44,884,658 (GRCm39) |
D967V |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
| Zscan26 |
T |
C |
13: 21,629,940 (GRCm39) |
M188V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTCACTGATGCACTGCAC -3'
(R):5'- AGCAGGTAAGGCGGGTTTTAGC -3'
Sequencing Primer
(F):5'- tgtagccctggttgtcttg -3'
(R):5'- ctctacctctacttccctctttg -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation