Incidental Mutation 'R9771:Ypel3'
| ID |
733447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ypel3
|
| Ensembl Gene |
ENSMUSG00000042675 |
| Gene Name |
yippee like 3 |
| Synonyms |
Suap, 1190001G19Rik, 0610043B10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126376135-126379682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126379226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 100
(Y100H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032944]
[ENSMUST00000038614]
[ENSMUST00000094037]
[ENSMUST00000106356]
[ENSMUST00000106357]
[ENSMUST00000106359]
[ENSMUST00000132643]
[ENSMUST00000145762]
[ENSMUST00000170882]
[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: Y100H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037332
Gene: ENSMUSG00000042675
AA Change: Y100H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
114 |
6.8e-20 |
PFAM |
|
| 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: Y100H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101963
Gene: ENSMUSG00000042675
AA Change: Y100H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
114 |
5.4e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106357
AA Change: Y100H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101964
Gene: ENSMUSG00000042675
AA Change: Y100H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
114 |
5.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132643
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145762
AA Change: Y100H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115596
Gene: ENSMUSG00000042675
AA Change: Y100H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
103 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170882
AA Change: Y100H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128753
Gene: ENSMUSG00000042675
AA Change: Y100H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
20 |
114 |
5.4e-21 |
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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
G |
3: 146,356,743 (GRCm39) |
I55T |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,310 (GRCm39) |
T866A |
probably benign |
Het |
| Alg12 |
A |
T |
15: 88,700,373 (GRCm39) |
V21E |
probably damaging |
Het |
| Bod1l |
C |
A |
5: 41,949,206 (GRCm39) |
R2972L |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,129,693 (GRCm39) |
I568F |
probably benign |
Het |
| Ccdc89 |
A |
G |
7: 90,075,810 (GRCm39) |
T7A |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,573,517 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,855,031 (GRCm39) |
I297M |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,066,833 (GRCm39) |
E200G |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,537 (GRCm39) |
S1575P |
probably benign |
Het |
| Gm18596 |
A |
C |
10: 77,577,962 (GRCm39) |
S171A |
unknown |
Het |
| Gmip |
T |
A |
8: 70,266,718 (GRCm39) |
C278S |
probably benign |
Het |
| Gngt2 |
G |
T |
11: 95,728,124 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
G |
A |
10: 88,268,485 (GRCm39) |
D531N |
probably damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,719 (GRCm39) |
C726R |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,025,877 (GRCm39) |
I289T |
unknown |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nol11 |
C |
A |
11: 107,069,914 (GRCm39) |
W312L |
probably damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,060 (GRCm39) |
Y272N |
possibly damaging |
Het |
| Or1p1c |
G |
A |
11: 74,160,635 (GRCm39) |
R140H |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 114,896,356 (GRCm39) |
R30Q |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,423,771 (GRCm39) |
L878P |
possibly damaging |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,358,883 (GRCm39) |
H364R |
probably benign |
Het |
| Polr1f |
A |
G |
12: 33,487,828 (GRCm39) |
T248A |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,113,365 (GRCm39) |
I231T |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,872,903 (GRCm39) |
R263* |
probably null |
Het |
| Ptprq |
T |
A |
10: 107,521,085 (GRCm39) |
I696F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,082,624 (GRCm39) |
I1341F |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,613,207 (GRCm39) |
Y428C |
probably damaging |
Het |
| Sh3tc1 |
A |
C |
5: 35,873,654 (GRCm39) |
F217C |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,353 (GRCm39) |
T1788I |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,983,048 (GRCm39) |
P672L |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tada3 |
A |
C |
6: 113,349,319 (GRCm39) |
S244A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,925,600 (GRCm39) |
I979F |
probably damaging |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,657 (GRCm39) |
N73S |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,559 (GRCm39) |
E405G |
possibly damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,079 (GRCm39) |
H212R |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,000,195 (GRCm39) |
L3015P |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,206,851 (GRCm39) |
S255P |
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 |
|
IGL03167:Ypel3
|
APN |
7 |
126,379,247 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTCTTCCCAGTGAGGAAAAG -3'
(R):5'- TGTATGTACAGGAGCTGGGTCC -3'
Sequencing Primer
(F):5'- TCTTCCCAGTGAGGAAAAGTGGTG -3'
(R):5'- CAGGCTGAAGCCACATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation