Incidental Mutation 'IGL03167:Ypel3'
| ID |
411688 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ypel3
|
| Ensembl Gene |
ENSMUSG00000042675 |
| Gene Name |
yippee like 3 |
| Synonyms |
Suap, 1190001G19Rik, 0610043B10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03167
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126376135-126379682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126379247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 107
(I107F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032944]
[ENSMUST00000038614]
[ENSMUST00000094037]
[ENSMUST00000106356]
[ENSMUST00000106357]
[ENSMUST00000106359]
[ENSMUST00000170882]
[ENSMUST00000132643]
[ENSMUST00000145762]
[ENSMUST00000172352]
|
| AlphaFold |
P61237 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032944
|
| SMART Domains |
Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
44 |
202 |
1.1e-23 |
PFAM |
|
low complexity region
|
208 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038614
AA Change: I107F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037332
Gene: ENSMUSG00000042675
AA Change: I107F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
114 |
6.8e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000068836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094037
|
| SMART Domains |
Protein: ENSMUSP00000091579
Gene: ENSMUSG00000030699
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
75 |
N/A |
INTRINSIC |
|
TBOX
|
90 |
278 |
1.79e-128 |
SMART |
|
low complexity region
|
332 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106356
AA Change: I107F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101963
Gene: ENSMUSG00000042675
AA Change: I107F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
114 |
5.4e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106357
AA Change: I107F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101964
Gene: ENSMUSG00000042675
AA Change: I107F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
114 |
5.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106359
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170882
AA Change: I107F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128753
Gene: ENSMUSG00000042675
AA Change: I107F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
114 |
5.4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145762
|
| SMART Domains |
Protein: ENSMUSP00000115596
Gene: ENSMUSG00000042675
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
103 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172352
|
| SMART Domains |
Protein: ENSMUSP00000126418
Gene: ENSMUSG00000030699
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
75 |
N/A |
INTRINSIC |
|
TBOX
|
90 |
278 |
1.79e-128 |
SMART |
|
low complexity region
|
333 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
429 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
C |
6: 34,834,594 (GRCm39) |
K921T |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,679,894 (GRCm39) |
|
probably benign |
Het |
| Ankrd22 |
A |
T |
19: 34,143,174 (GRCm39) |
M1K |
probably null |
Het |
| Ano5 |
G |
A |
7: 51,235,259 (GRCm39) |
V698I |
probably damaging |
Het |
| Ccnh |
A |
G |
13: 85,345,685 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,282,635 (GRCm39) |
I771F |
probably damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,523,257 (GRCm39) |
S203P |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,288,802 (GRCm39) |
V82E |
probably damaging |
Het |
| Ffar3 |
A |
T |
7: 30,554,780 (GRCm39) |
V180E |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,700,108 (GRCm39) |
S381G |
probably benign |
Het |
| Foxf1 |
C |
A |
8: 121,811,647 (GRCm39) |
Y170* |
probably null |
Het |
| Glis1 |
A |
G |
4: 107,293,102 (GRCm39) |
D75G |
possibly damaging |
Het |
| Gpr151 |
T |
C |
18: 42,711,439 (GRCm39) |
H413R |
probably benign |
Het |
| Gtf3c1 |
T |
C |
7: 125,269,752 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,976,330 (GRCm39) |
F711I |
probably damaging |
Het |
| Il1rapl1 |
A |
G |
X: 85,790,867 (GRCm39) |
I691T |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,821,406 (GRCm39) |
Y579C |
probably benign |
Het |
| Lingo3 |
A |
G |
10: 80,671,178 (GRCm39) |
S251P |
probably damaging |
Het |
| Mbl1 |
T |
A |
14: 40,880,543 (GRCm39) |
S144T |
probably benign |
Het |
| Musk |
A |
T |
4: 58,366,821 (GRCm39) |
R462W |
possibly damaging |
Het |
| Mynn |
T |
C |
3: 30,663,191 (GRCm39) |
L373P |
probably damaging |
Het |
| Myoz2 |
G |
A |
3: 122,800,139 (GRCm39) |
R230* |
probably null |
Het |
| Nup35 |
A |
G |
2: 80,488,660 (GRCm39) |
|
probably benign |
Het |
| Or14a259 |
C |
T |
7: 86,013,128 (GRCm39) |
C139Y |
probably damaging |
Het |
| Or2d4 |
A |
G |
7: 106,543,852 (GRCm39) |
S119P |
probably damaging |
Het |
| Or5ak4 |
C |
T |
2: 85,161,664 (GRCm39) |
D193N |
probably benign |
Het |
| Or5m3 |
T |
A |
2: 85,838,511 (GRCm39) |
Y130* |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,843,919 (GRCm39) |
S618T |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,630,165 (GRCm39) |
|
probably benign |
Het |
| Pparg |
T |
G |
6: 115,450,188 (GRCm39) |
F396V |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,767,108 (GRCm39) |
E441G |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,450,485 (GRCm39) |
C161S |
probably benign |
Het |
| Skint5 |
C |
T |
4: 113,751,047 (GRCm39) |
E333K |
unknown |
Het |
| Slc22a8 |
C |
T |
19: 8,587,322 (GRCm39) |
P461S |
probably damaging |
Het |
| Slc38a6 |
C |
T |
12: 73,397,311 (GRCm39) |
Q318* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 178,021,291 (GRCm39) |
K512E |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,623 (GRCm39) |
N148Y |
probably damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,609,979 (GRCm39) |
M257T |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,788,119 (GRCm39) |
N792K |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,766,277 (GRCm39) |
V43E |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,467,195 (GRCm39) |
S475P |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,681 (GRCm39) |
V242A |
probably damaging |
Het |
| Zfp352 |
T |
C |
4: 90,112,939 (GRCm39) |
S360P |
probably damaging |
Het |
|
| Other mutations in Ypel3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01486:Ypel3
|
APN |
7 |
126,377,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Yelp
|
UTSW |
7 |
126,377,537 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Ypres
|
UTSW |
7 |
126,377,269 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4084:Ypel3
|
UTSW |
7 |
126,377,537 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4105:Ypel3
|
UTSW |
7 |
126,377,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Ypel3
|
UTSW |
7 |
126,376,961 (GRCm39) |
missense |
probably benign |
|
|
R5435:Ypel3
|
UTSW |
7 |
126,374,960 (GRCm39) |
unclassified |
probably benign |
|
|
R6119:Ypel3
|
UTSW |
7 |
126,377,537 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7372:Ypel3
|
UTSW |
7 |
126,379,200 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7816:Ypel3
|
UTSW |
7 |
126,377,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Ypel3
|
UTSW |
7 |
126,377,269 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9432:Ypel3
|
UTSW |
7 |
126,379,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9771:Ypel3
|
UTSW |
7 |
126,379,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation