Incidental Mutation 'IGL02708:Ypel1'
ID |
304457 |
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 # |
IGL02708
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
16887560-16904909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 16923872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 59
(V59D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156086
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023455]
[ENSMUST00000115719]
[ENSMUST00000115721]
[ENSMUST00000164458]
[ENSMUST00000231712]
[ENSMUST00000231245]
[ENSMUST00000231451]
[ENSMUST00000232481]
|
AlphaFold |
Q9ESC7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023455
AA Change: V59D
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000023455 Gene: ENSMUSG00000022771 AA Change: V59D
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: V59D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000111384 Gene: ENSMUSG00000022771 AA Change: V59D
Domain | Start | End | E-Value | Type |
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115721
AA Change: V59D
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000111386 Gene: ENSMUSG00000022771 AA Change: V59D
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 |
probably benign
Transcript: ENSMUST00000164458
AA Change: V59D
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000131422 Gene: ENSMUSG00000022771 AA Change: V59D
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: ENSMUST00000153927
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156521
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231712
AA Change: V59D
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231245
AA Change: V59D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231451
AA Change: V59D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232169
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232510
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231587
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231635
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231536
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
T |
14: 118,738,213 (GRCm39) |
V1104D |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,532,161 (GRCm39) |
V1024E |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,631,686 (GRCm39) |
H348R |
probably benign |
Het |
Aifm2 |
T |
C |
10: 61,574,354 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
T |
C |
6: 118,495,379 (GRCm39) |
|
probably benign |
Het |
Avpr1b |
A |
G |
1: 131,528,389 (GRCm39) |
D304G |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,156,498 (GRCm39) |
D475G |
possibly damaging |
Het |
E2f8 |
T |
C |
7: 48,516,982 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
A |
11: 55,173,211 (GRCm39) |
I2501F |
probably damaging |
Het |
Gm4181 |
A |
G |
14: 51,870,689 (GRCm39) |
C91R |
probably benign |
Het |
Gm5424 |
T |
A |
10: 61,907,390 (GRCm39) |
|
noncoding transcript |
Het |
Gnai3 |
A |
G |
3: 108,025,660 (GRCm39) |
F140L |
probably benign |
Het |
Htra1 |
A |
T |
7: 130,563,765 (GRCm39) |
D212V |
probably damaging |
Het |
Irgm2 |
T |
C |
11: 58,111,350 (GRCm39) |
V347A |
probably benign |
Het |
Itch |
A |
G |
2: 155,015,964 (GRCm39) |
T150A |
probably benign |
Het |
Itgb3 |
A |
C |
11: 104,528,655 (GRCm39) |
I261L |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 34,212,420 (GRCm39) |
V31M |
probably damaging |
Het |
Klra7 |
C |
T |
6: 130,203,463 (GRCm39) |
C181Y |
probably damaging |
Het |
Klrb1 |
A |
G |
6: 128,690,548 (GRCm39) |
L58S |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,481,097 (GRCm39) |
E61G |
probably damaging |
Het |
Krt78 |
T |
A |
15: 101,861,842 (GRCm39) |
T135S |
possibly damaging |
Het |
Mpdz |
A |
G |
4: 81,202,808 (GRCm39) |
|
probably null |
Het |
Mphosph6 |
A |
G |
8: 118,519,525 (GRCm39) |
|
probably benign |
Het |
Myo19 |
T |
C |
11: 84,790,222 (GRCm39) |
S393P |
possibly damaging |
Het |
Or51a5 |
A |
G |
7: 102,771,027 (GRCm39) |
|
probably benign |
Het |
Or8g53 |
T |
C |
9: 39,683,214 (GRCm39) |
N294S |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,704,988 (GRCm39) |
Y316C |
probably damaging |
Het |
Pkp3 |
A |
T |
7: 140,669,681 (GRCm39) |
|
probably benign |
Het |
Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
Psmb8 |
A |
G |
17: 34,420,217 (GRCm39) |
K270E |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,488,561 (GRCm39) |
N959D |
probably damaging |
Het |
Rab6b |
T |
G |
9: 103,038,074 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
T |
C |
13: 76,065,843 (GRCm39) |
D180G |
probably damaging |
Het |
Sccpdh |
G |
A |
1: 179,508,074 (GRCm39) |
C238Y |
probably benign |
Het |
Srm |
C |
T |
4: 148,677,803 (GRCm39) |
S147L |
probably benign |
Het |
Synj1 |
A |
T |
16: 90,788,350 (GRCm39) |
S173T |
probably damaging |
Het |
Tas1r1 |
T |
C |
4: 152,112,797 (GRCm39) |
E752G |
possibly damaging |
Het |
Tmem151a |
G |
T |
19: 5,132,875 (GRCm39) |
Y110* |
probably null |
Het |
Ttn |
A |
G |
2: 76,556,957 (GRCm39) |
V30016A |
probably damaging |
Het |
Txnrd2 |
A |
G |
16: 18,287,590 (GRCm39) |
E331G |
probably benign |
Het |
Vldlr |
T |
C |
19: 27,215,485 (GRCm39) |
C161R |
possibly damaging |
Het |
Vmn1r91 |
T |
A |
7: 19,835,415 (GRCm39) |
S111R |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,655,796 (GRCm39) |
I407F |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,854,850 (GRCm39) |
M2258V |
probably benign |
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 |
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 |