Incidental Mutation 'PIT4434001:Rufy2'
ID |
555070 |
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 # |
PIT4434001 (G1)
|
Quality Score |
195.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62816002-62852989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62826845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 128
(Q128L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062600]
[ENSMUST00000119567]
[ENSMUST00000122231]
[ENSMUST00000131718]
[ENSMUST00000143594]
[ENSMUST00000156302]
|
AlphaFold |
Q8R4C2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062600
AA Change: Q128L
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000059982 Gene: ENSMUSG00000020070 AA Change: Q128L
Domain | Start | End | E-Value | Type |
RUN
|
105 |
167 |
3.02e-22 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119567
AA Change: Q128L
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113429 Gene: ENSMUSG00000020070 AA Change: Q128L
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
AA Change: Q128L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000121419 Gene: ENSMUSG00000020070 AA Change: Q128L
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: Q128L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000115339 Gene: ENSMUSG00000020070 AA Change: Q128L
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: ENSMUST00000156302
|
SMART Domains |
Protein: ENSMUSP00000116938 Gene: ENSMUSG00000020070
Domain | Start | End | E-Value | Type |
PDB:2DWK|A
|
1 |
59 |
2e-31 |
PDB |
|
Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
T |
A |
11: 117,696,869 (GRCm39) |
D196E |
probably benign |
Het |
Abcb5 |
G |
A |
12: 118,854,422 (GRCm39) |
S831F |
probably damaging |
Het |
Alg2 |
C |
A |
4: 47,474,076 (GRCm39) |
A71S |
probably benign |
Het |
Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
Ano1 |
A |
G |
7: 144,164,632 (GRCm39) |
V664A |
probably benign |
Het |
Bbox1 |
A |
C |
2: 110,105,979 (GRCm39) |
D188E |
probably benign |
Het |
Bmi1 |
C |
T |
2: 18,689,042 (GRCm39) |
T242M |
probably benign |
Het |
C4bp |
A |
G |
1: 130,584,947 (GRCm39) |
F30L |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,732,145 (GRCm39) |
N214S |
probably null |
Het |
Cep162 |
C |
A |
9: 87,075,701 (GRCm39) |
K1310N |
probably damaging |
Het |
Cfap74 |
G |
A |
4: 155,548,421 (GRCm39) |
V21M |
unknown |
Het |
Copa |
A |
G |
1: 171,933,742 (GRCm39) |
D401G |
probably benign |
Het |
Cyp4f14 |
A |
G |
17: 33,125,104 (GRCm39) |
V439A |
possibly damaging |
Het |
Ddhd1 |
A |
C |
14: 45,848,062 (GRCm39) |
N569K |
possibly damaging |
Het |
Dennd5a |
A |
G |
7: 109,532,831 (GRCm39) |
L313P |
probably damaging |
Het |
Eri2 |
A |
G |
7: 119,385,524 (GRCm39) |
F326L |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,068,276 (GRCm39) |
H864Q |
probably benign |
Het |
Fat3 |
C |
T |
9: 15,907,612 (GRCm39) |
V2797I |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,229,134 (GRCm39) |
D692G |
probably damaging |
Het |
Fbxw20 |
A |
G |
9: 109,052,500 (GRCm39) |
S278P |
probably damaging |
Het |
Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
Grn |
C |
T |
11: 102,326,766 (GRCm39) |
H482Y |
possibly damaging |
Het |
Igkv7-33 |
A |
G |
6: 70,035,797 (GRCm39) |
Y62H |
possibly damaging |
Het |
Kdm4c |
A |
G |
4: 74,189,569 (GRCm39) |
T95A |
probably benign |
Het |
Lrp3 |
T |
C |
7: 34,903,420 (GRCm39) |
T309A |
probably damaging |
Het |
Map3k2 |
C |
A |
18: 32,343,088 (GRCm39) |
D279E |
possibly damaging |
Het |
Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
Mcpt9 |
A |
G |
14: 56,266,686 (GRCm39) |
S14P |
probably benign |
Het |
Or10b1 |
T |
C |
10: 78,355,549 (GRCm39) |
F36L |
possibly damaging |
Het |
Or51a8 |
T |
C |
7: 102,549,837 (GRCm39) |
F88L |
probably benign |
Het |
Or52a33 |
A |
C |
7: 103,289,054 (GRCm39) |
C98G |
probably damaging |
Het |
Otud7b |
G |
A |
3: 96,047,776 (GRCm39) |
R45H |
probably damaging |
Het |
Pcdhb17 |
A |
G |
18: 37,618,704 (GRCm39) |
N165D |
probably damaging |
Het |
Pogz |
A |
G |
3: 94,779,681 (GRCm39) |
T538A |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,328,458 (GRCm39) |
E311G |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
Raet1d |
A |
T |
10: 22,247,433 (GRCm39) |
K170* |
probably null |
Het |
Svopl |
T |
C |
6: 37,991,801 (GRCm39) |
N360D |
possibly damaging |
Het |
Syt4 |
A |
C |
18: 31,573,384 (GRCm39) |
L377W |
probably damaging |
Het |
Taar7a |
A |
G |
10: 23,869,319 (GRCm39) |
F21L |
probably benign |
Het |
Tax1bp3 |
T |
A |
11: 73,071,630 (GRCm39) |
M78K |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,423,780 (GRCm38) |
|
probably null |
Het |
Trim52 |
A |
T |
14: 106,344,732 (GRCm39) |
D130V |
probably benign |
Het |
Ttc1 |
T |
C |
11: 43,635,955 (GRCm39) |
Y96C |
probably damaging |
Het |
Vmn2r49 |
T |
C |
7: 9,710,762 (GRCm39) |
T657A |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,881,817 (GRCm39) |
F1259I |
|
Het |
Zbtb18 |
A |
T |
1: 177,275,989 (GRCm39) |
T441S |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACGCTCTAAAGGTGAACAG -3'
(R):5'- ACCCCGTGTTCAGCGATAAAG -3'
Sequencing Primer
(F):5'- CGCTCTAAAGGTGAACAGCATTTATC -3'
(R):5'- ATAAAGAGCTGATGGGCTTTCTCTC -3'
|
Posted On |
2019-06-07 |