Incidental Mutation 'R6415:Ypel1'
ID |
517899 |
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 |
044557-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6415 (G1)
|
Quality Score |
189.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
16887560-16904909 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 16921438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023455]
[ENSMUST00000023455]
[ENSMUST00000115719]
[ENSMUST00000115719]
[ENSMUST00000115721]
[ENSMUST00000115721]
[ENSMUST00000164458]
[ENSMUST00000164458]
[ENSMUST00000231245]
[ENSMUST00000231245]
[ENSMUST00000231451]
[ENSMUST00000231712]
[ENSMUST00000231712]
[ENSMUST00000232481]
|
AlphaFold |
Q9ESC7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023455
|
SMART Domains |
Protein: ENSMUSP00000023455 Gene: ENSMUSG00000022771
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 null
Transcript: ENSMUST00000023455
|
SMART Domains |
Protein: ENSMUSP00000023455 Gene: ENSMUSG00000022771
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 null
Transcript: ENSMUST00000115719
|
SMART Domains |
Protein: ENSMUSP00000111384 Gene: ENSMUSG00000022771
Domain | Start | End | E-Value | Type |
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115719
|
SMART Domains |
Protein: ENSMUSP00000111384 Gene: ENSMUSG00000022771
Domain | Start | End | E-Value | Type |
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115721
|
SMART Domains |
Protein: ENSMUSP00000111386 Gene: ENSMUSG00000022771
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 |
probably null
Transcript: ENSMUST00000115721
|
SMART Domains |
Protein: ENSMUSP00000111386 Gene: ENSMUSG00000022771
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 |
probably null
Transcript: ENSMUST00000164458
|
SMART Domains |
Protein: ENSMUSP00000131422 Gene: ENSMUSG00000022771
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 null
Transcript: ENSMUST00000164458
|
SMART Domains |
Protein: ENSMUSP00000131422 Gene: ENSMUSG00000022771
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 null
Transcript: ENSMUST00000231245
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231245
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231451
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231587
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232510
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231635
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231712
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231712
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232169
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232481
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
G |
A |
9: 55,881,296 (GRCm39) |
T482M |
probably benign |
Het |
Adam9 |
A |
G |
8: 25,468,498 (GRCm39) |
Y513H |
probably damaging |
Het |
Adamts20 |
C |
T |
15: 94,222,540 (GRCm39) |
|
probably null |
Het |
B3gnt5 |
A |
G |
16: 19,588,759 (GRCm39) |
D326G |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,354,243 (GRCm39) |
I224T |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,309,612 (GRCm39) |
I402M |
probably benign |
Het |
Cckar |
A |
T |
5: 53,860,398 (GRCm39) |
C73S |
probably damaging |
Het |
Cdk13 |
C |
T |
13: 17,913,739 (GRCm39) |
R880H |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,830,986 (GRCm39) |
N218D |
unknown |
Het |
Csnk1g2 |
T |
C |
10: 80,474,130 (GRCm39) |
I145T |
possibly damaging |
Het |
Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
Cyp2c69 |
A |
G |
19: 39,831,365 (GRCm39) |
F483L |
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,436,939 (GRCm39) |
D963G |
probably benign |
Het |
Dhx8 |
G |
T |
11: 101,628,513 (GRCm39) |
A142S |
unknown |
Het |
Dock7 |
C |
T |
4: 98,880,685 (GRCm39) |
R926Q |
probably damaging |
Het |
Dscaml1 |
C |
T |
9: 45,594,975 (GRCm39) |
Q693* |
probably null |
Het |
Dysf |
G |
A |
6: 84,117,024 (GRCm39) |
C1234Y |
probably damaging |
Het |
Ercc1 |
G |
A |
7: 19,089,102 (GRCm39) |
|
probably null |
Het |
Fam91a1 |
T |
C |
15: 58,314,766 (GRCm39) |
L549P |
probably damaging |
Het |
Fxyd2 |
T |
A |
9: 45,314,592 (GRCm39) |
Y5N |
possibly damaging |
Het |
Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
Gpr182 |
T |
A |
10: 127,586,375 (GRCm39) |
D192V |
possibly damaging |
Het |
Gps1 |
T |
C |
11: 120,678,548 (GRCm39) |
V286A |
possibly damaging |
Het |
Grk1 |
A |
G |
8: 13,463,127 (GRCm39) |
Y383C |
probably damaging |
Het |
H2bc15 |
T |
C |
13: 21,938,656 (GRCm39) |
Y122H |
probably benign |
Het |
Hic1 |
G |
A |
11: 75,057,143 (GRCm39) |
P582L |
possibly damaging |
Het |
Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
Khdc4 |
T |
C |
3: 88,607,279 (GRCm39) |
F328L |
probably benign |
Het |
Lactb |
T |
C |
9: 66,877,927 (GRCm39) |
K301E |
possibly damaging |
Het |
Lrp3 |
A |
T |
7: 34,903,593 (GRCm39) |
V251E |
probably benign |
Het |
Mapt |
G |
A |
11: 104,189,824 (GRCm39) |
G265S |
probably benign |
Het |
Obscn |
A |
T |
11: 58,925,956 (GRCm39) |
D6245E |
probably damaging |
Het |
Or10al2 |
G |
T |
17: 37,983,448 (GRCm39) |
C178F |
possibly damaging |
Het |
Or1j12 |
A |
G |
2: 36,342,617 (GRCm39) |
S7G |
probably damaging |
Het |
Or4b1c |
T |
A |
2: 90,126,381 (GRCm39) |
I275F |
probably damaging |
Het |
Or4c10b |
T |
C |
2: 89,711,206 (GRCm39) |
L12P |
probably damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,890 (GRCm39) |
T101A |
probably benign |
Het |
Or7e165 |
T |
A |
9: 19,695,044 (GRCm39) |
I205N |
probably damaging |
Het |
Or7g19 |
T |
C |
9: 18,856,415 (GRCm39) |
L157P |
probably damaging |
Het |
Oxsm |
A |
T |
14: 16,241,904 (GRCm38) |
H288Q |
probably benign |
Het |
Pcdh9 |
C |
T |
14: 93,253,278 (GRCm39) |
M1128I |
possibly damaging |
Het |
Pcdha8 |
T |
C |
18: 37,127,614 (GRCm39) |
Y699H |
probably damaging |
Het |
Pgk2 |
A |
T |
17: 40,518,459 (GRCm39) |
I323N |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,410,264 (GRCm39) |
V1216A |
probably damaging |
Het |
Ppargc1a |
T |
C |
5: 51,620,176 (GRCm39) |
|
probably benign |
Het |
Prelp |
A |
T |
1: 133,840,516 (GRCm39) |
I322N |
probably benign |
Het |
Prelp |
A |
T |
1: 133,842,395 (GRCm39) |
I250N |
probably damaging |
Het |
Prss27 |
T |
A |
17: 24,261,882 (GRCm39) |
C63* |
probably null |
Het |
Rab38 |
G |
A |
7: 88,079,748 (GRCm39) |
A47T |
possibly damaging |
Het |
Rprd2 |
G |
A |
3: 95,681,531 (GRCm39) |
A436V |
probably benign |
Het |
Sacs |
A |
T |
14: 61,442,808 (GRCm39) |
N1618I |
probably damaging |
Het |
Scp2 |
T |
G |
4: 107,962,337 (GRCm39) |
S63R |
probably benign |
Het |
Sftpb |
T |
G |
6: 72,281,633 (GRCm39) |
W9G |
probably damaging |
Het |
Slco1a4 |
A |
T |
6: 141,780,415 (GRCm39) |
L125* |
probably null |
Het |
Sptlc1 |
T |
C |
13: 53,505,728 (GRCm39) |
|
probably null |
Het |
Sub1 |
T |
A |
15: 11,986,560 (GRCm39) |
M96L |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,667,458 (GRCm39) |
V1233A |
probably benign |
Het |
Tmem140 |
A |
T |
6: 34,849,658 (GRCm39) |
D58V |
probably damaging |
Het |
Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
Tpt1 |
T |
C |
14: 76,083,811 (GRCm39) |
Y91H |
probably benign |
Het |
Trap1 |
C |
T |
16: 3,861,856 (GRCm39) |
R636H |
possibly damaging |
Het |
Ttc14 |
A |
G |
3: 33,857,724 (GRCm39) |
H275R |
possibly damaging |
Het |
Tut7 |
T |
A |
13: 59,964,110 (GRCm39) |
|
probably null |
Het |
Vps35l |
T |
C |
7: 118,391,869 (GRCm39) |
W494R |
probably damaging |
Het |
Zbtb44 |
T |
A |
9: 30,975,510 (GRCm39) |
I380N |
possibly damaging |
Het |
Zswim5 |
T |
C |
4: 116,838,063 (GRCm39) |
F798L |
possibly 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 |
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 |
|
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'- ATCCTCATCCGTGTGCACAC -3'
(R):5'- CCGCTCATTCTGGCCCAAAG -3'
Sequencing Primer
(F):5'- GTGCACACAGGCAACACTTGTAG -3'
(R):5'- CTGGGATTTGAACTCAGGACC -3'
|
Posted On |
2018-05-24 |