Incidental Mutation 'IGL02559:Ypel1'
| ID |
298600 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ypel1
|
| Ensembl Gene |
ENSMUSG00000022773 |
| Gene Name |
yippee like 1 |
| Synonyms |
1700016N17Rik, Dgl1, Ppil2, 1700019O22Rik, mdgl-1, 0610009L05Rik, 4921520K19Rik, 4930511F14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
16887560-16904909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16927515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 26
(K26E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023455]
[ENSMUST00000093336]
[ENSMUST00000115719]
[ENSMUST00000115721]
[ENSMUST00000164458]
[ENSMUST00000207116]
[ENSMUST00000231712]
[ENSMUST00000231451]
[ENSMUST00000231245]
[ENSMUST00000231681]
[ENSMUST00000232481]
|
| AlphaFold |
Q9ESC7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023455
AA Change: K26E
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023455
Gene: ENSMUSG00000022771
AA Change: K26E
| 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: ENSMUST00000093336
|
| SMART Domains |
Protein: ENSMUSP00000091026
Gene: ENSMUSG00000049916
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115719
AA Change: K26E
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111384
Gene: ENSMUSG00000022771
AA Change: K26E
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115721
AA Change: K26E
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111386
Gene: ENSMUSG00000022771
AA Change: K26E
| 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: ENSMUST00000134849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153927
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164458
AA Change: K26E
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131422
Gene: ENSMUSG00000022771
AA Change: K26E
| 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: ENSMUST00000207116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156521
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231712
AA Change: K26E
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231451
AA Change: K26E
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231245
AA Change: K26E
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231635
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,507,433 (GRCm39) |
Q1004* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,175,998 (GRCm39) |
D1914G |
probably damaging |
Het |
| Bcl11b |
A |
T |
12: 107,881,653 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,019,934 (GRCm39) |
I102F |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,802,284 (GRCm39) |
R2063C |
unknown |
Het |
| Ddo |
T |
A |
10: 40,523,517 (GRCm39) |
L169Q |
probably damaging |
Het |
| Defb4 |
G |
T |
8: 19,251,313 (GRCm39) |
C60F |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,862,559 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
T |
6: 84,044,428 (GRCm39) |
|
probably benign |
Het |
| Fasn |
G |
A |
11: 120,699,892 (GRCm39) |
A2253V |
possibly damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,551,232 (GRCm39) |
D355G |
probably benign |
Het |
| Gak |
C |
T |
5: 108,732,098 (GRCm39) |
E797K |
probably null |
Het |
| Gm10654 |
T |
C |
8: 71,384,774 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,183,729 (GRCm39) |
|
probably benign |
Het |
| H2bc11 |
T |
A |
13: 22,227,533 (GRCm39) |
V45E |
possibly damaging |
Het |
| Hdac3 |
A |
G |
18: 38,087,944 (GRCm39) |
F8S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,140,301 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
A |
G |
14: 96,389,396 (GRCm39) |
V586A |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
| Mmp28 |
G |
T |
11: 83,338,566 (GRCm39) |
N128K |
probably benign |
Het |
| Mndal |
T |
C |
1: 173,700,486 (GRCm39) |
T162A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,991,921 (GRCm39) |
E1822G |
possibly damaging |
Het |
| Mylpf |
A |
G |
7: 126,813,315 (GRCm39) |
Y133C |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,067,260 (GRCm39) |
A767T |
probably benign |
Het |
| Or10j3b |
T |
C |
1: 173,044,088 (GRCm39) |
V290A |
probably damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,161 (GRCm39) |
R225W |
probably benign |
Het |
| Or5au1 |
A |
G |
14: 52,273,464 (GRCm39) |
Y35H |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,112,451 (GRCm39) |
I312V |
possibly damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,049 (GRCm39) |
Q1296K |
probably benign |
Het |
| Rufy1 |
A |
G |
11: 50,311,310 (GRCm39) |
F170L |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,799,305 (GRCm39) |
E93V |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,594,826 (GRCm39) |
I11K |
possibly damaging |
Het |
| Slc5a5 |
C |
T |
8: 71,342,915 (GRCm39) |
G215D |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,867,514 (GRCm39) |
V473D |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,709,524 (GRCm39) |
V123A |
probably benign |
Het |
| Srgap2 |
A |
C |
1: 131,452,674 (GRCm39) |
|
probably null |
Het |
| Stk32c |
T |
C |
7: 138,700,606 (GRCm39) |
M208V |
probably benign |
Het |
| Syt15 |
T |
C |
14: 33,943,760 (GRCm39) |
V103A |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,360,997 (GRCm39) |
L456Q |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,554,998 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
G |
T |
11: 119,987,731 (GRCm39) |
D62E |
probably benign |
Het |
| Thap3 |
T |
C |
4: 152,068,144 (GRCm39) |
D106G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,561 (GRCm39) |
D14818G |
probably damaging |
Het |
| Txndc2 |
T |
C |
17: 65,946,585 (GRCm39) |
N39S |
possibly damaging |
Het |
| Ubxn11 |
A |
G |
4: 133,852,254 (GRCm39) |
E200G |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,200,046 (GRCm39) |
Q469P |
probably damaging |
Het |
| Yipf2 |
T |
C |
9: 21,503,482 (GRCm39) |
T22A |
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 |
|
|
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 |
|
R0592:Ypel1
|
UTSW |
16 |
16,925,083 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation