Incidental Mutation 'R0592:Ypel1'
| ID |
56038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ypel1
|
| Ensembl Gene |
ENSMUSG00000022773 |
| Gene Name |
yippee like 1 |
| Synonyms |
1700016N17Rik, Dgl1, Ppil2, 1700019O22Rik, mdgl-1, 0610009L05Rik, 4921520K19Rik, 4930511F14Rik |
| MMRRC Submission |
038782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0592 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16887560-16904909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16925083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 30
(S30P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023455]
[ENSMUST00000115719]
[ENSMUST00000115721]
[ENSMUST00000164458]
[ENSMUST00000231245]
[ENSMUST00000231712]
[ENSMUST00000231451]
[ENSMUST00000232481]
|
| AlphaFold |
Q9ESC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023455
AA Change: S30P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023455
Gene: ENSMUSG00000022771
AA Change: S30P
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
Pfam:Pro_isomerase
|
281 |
433 |
1.3e-50 |
PFAM |
|
low complexity region
|
493 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115719
AA Change: S30P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111384
Gene: ENSMUSG00000022771
AA Change: S30P
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115721
AA Change: S30P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111386
Gene: ENSMUSG00000022771
AA Change: S30P
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
Pfam:Pro_isomerase
|
281 |
433 |
3.7e-53 |
PFAM |
|
low complexity region
|
493 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124030
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153927
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164458
AA Change: S30P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131422
Gene: ENSMUSG00000022771
AA Change: S30P
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
Pfam:Pro_isomerase
|
281 |
433 |
1.3e-50 |
PFAM |
|
low complexity region
|
493 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156521
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231245
AA Change: S30P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231712
AA Change: S30P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231451
AA Change: S30P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231635
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
| Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
| Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
| Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
| Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
| Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
| Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
| Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
| Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
|
| Other mutations in Ypel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01099:Ypel1
|
APN |
16 |
16,909,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02392:Ypel1
|
APN |
16 |
16,906,702 (GRCm39) |
missense |
probably benign |
|
|
IGL02559:Ypel1
|
APN |
16 |
16,927,515 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02708:Ypel1
|
APN |
16 |
16,923,872 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02724:Ypel1
|
APN |
16 |
16,921,466 (GRCm39) |
missense |
probably benign |
0.08 |
|
zagnut
|
UTSW |
16 |
16,913,905 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0975:Ypel1
|
UTSW |
16 |
16,925,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1258:Ypel1
|
UTSW |
16 |
16,923,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1594:Ypel1
|
UTSW |
16 |
16,899,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Ypel1
|
UTSW |
16 |
16,921,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Ypel1
|
UTSW |
16 |
16,907,283 (GRCm39) |
unclassified |
probably benign |
|
|
R1739:Ypel1
|
UTSW |
16 |
16,907,283 (GRCm39) |
unclassified |
probably benign |
|
|
R1784:Ypel1
|
UTSW |
16 |
16,907,283 (GRCm39) |
unclassified |
probably benign |
|
|
R1853:Ypel1
|
UTSW |
16 |
16,925,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1856:Ypel1
|
UTSW |
16 |
16,899,511 (GRCm39) |
splice site |
probably null |
|
|
R1921:Ypel1
|
UTSW |
16 |
16,900,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3608:Ypel1
|
UTSW |
16 |
16,910,154 (GRCm39) |
nonsense |
probably null |
|
|
R3769:Ypel1
|
UTSW |
16 |
16,927,532 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4445:Ypel1
|
UTSW |
16 |
16,921,464 (GRCm39) |
nonsense |
probably null |
|
|
R4518:Ypel1
|
UTSW |
16 |
16,913,905 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5066:Ypel1
|
UTSW |
16 |
16,927,539 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5085:Ypel1
|
UTSW |
16 |
16,902,472 (GRCm39) |
splice site |
probably null |
|
|
R5842:Ypel1
|
UTSW |
16 |
16,912,851 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6013:Ypel1
|
UTSW |
16 |
16,918,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Ypel1
|
UTSW |
16 |
16,902,377 (GRCm39) |
splice site |
probably null |
|
|
R6030:Ypel1
|
UTSW |
16 |
16,902,377 (GRCm39) |
splice site |
probably null |
|
|
R6415:Ypel1
|
UTSW |
16 |
16,921,438 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6978:Ypel1
|
UTSW |
16 |
16,902,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7735:Ypel1
|
UTSW |
16 |
16,918,124 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8865:Ypel1
|
UTSW |
16 |
16,915,269 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9173:Ypel1
|
UTSW |
16 |
16,915,298 (GRCm39) |
nonsense |
probably null |
|
|
R9720:Ypel1
|
UTSW |
16 |
16,910,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF014:Ypel1
|
UTSW |
16 |
16,915,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Ypel1
|
UTSW |
16 |
16,912,901 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAATATGCAAGgatggcagcctataa -3'
(R):5'- ccagtgAAGTACACTGAGCCACTGA -3'
Sequencing Primer
(F):5'- tggcagcctataatcctaatacttg -3'
(R):5'- ctgcctgcctctgcttc -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation