Incidental Mutation 'R5085:Ypel1'
| ID |
387397 |
| 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 |
042674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16887560-16904909 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1914 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 16902472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023455]
[ENSMUST00000035682]
[ENSMUST00000164458]
[ENSMUST00000231394]
[ENSMUST00000231712]
[ENSMUST00000231451]
[ENSMUST00000232574]
[ENSMUST00000231514]
[ENSMUST00000232258]
|
| AlphaFold |
Q9ESC7 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000035682
|
| SMART Domains |
Protein: ENSMUSP00000039760
Gene: ENSMUSG00000022773
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yippee-Mis18
|
19 |
114 |
4.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153489
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000231394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231518
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232397
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232574
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231514
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232258
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
92% (69/75) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,653,837 (GRCm39) |
K129* |
probably null |
Het |
| Adamts6 |
A |
T |
13: 104,443,751 (GRCm39) |
D162V |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,597,714 (GRCm39) |
P1316T |
possibly damaging |
Het |
| AU040320 |
A |
T |
4: 126,722,664 (GRCm39) |
N394I |
possibly damaging |
Het |
| Cacng8 |
T |
C |
7: 3,464,096 (GRCm39) |
L416P |
possibly damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,419,313 (GRCm39) |
N944K |
probably damaging |
Het |
| Clcn1 |
C |
T |
6: 42,290,814 (GRCm39) |
T896I |
probably benign |
Het |
| Col16a1 |
A |
T |
4: 129,947,964 (GRCm39) |
Y228F |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,548,083 (GRCm39) |
D561G |
probably benign |
Het |
| Ddr1 |
T |
A |
17: 35,993,667 (GRCm39) |
|
probably null |
Het |
| Dedd2 |
A |
T |
7: 24,918,411 (GRCm39) |
L48Q |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dph3b-ps |
A |
G |
13: 106,683,558 (GRCm39) |
|
noncoding transcript |
Het |
| Dppa3 |
T |
C |
6: 122,606,891 (GRCm39) |
F127S |
probably damaging |
Het |
| Dpy19l4 |
C |
T |
4: 11,265,943 (GRCm39) |
|
probably null |
Het |
| Flrt3 |
T |
C |
2: 140,502,177 (GRCm39) |
T484A |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,128,936 (GRCm39) |
E179G |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,282 (GRCm39) |
E76G |
probably benign |
Het |
| Gm6421 |
G |
A |
13: 117,494,969 (GRCm39) |
|
noncoding transcript |
Het |
| Grk5 |
T |
C |
19: 61,065,122 (GRCm39) |
V262A |
probably damaging |
Het |
| Grp |
A |
G |
18: 66,013,230 (GRCm39) |
Q132R |
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,246,537 (GRCm39) |
F123L |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,986,445 (GRCm39) |
D532G |
probably damaging |
Het |
| Igsf9b |
C |
A |
9: 27,228,733 (GRCm39) |
F164L |
probably benign |
Het |
| Irag1 |
G |
T |
7: 110,470,700 (GRCm39) |
L672I |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kansl1 |
C |
T |
11: 104,315,168 (GRCm39) |
R290Q |
probably damaging |
Het |
| Kifc2 |
T |
A |
15: 76,545,496 (GRCm39) |
L81Q |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,616,538 (GRCm39) |
R160G |
probably damaging |
Het |
| Mal |
A |
G |
2: 127,482,193 (GRCm39) |
M70T |
probably benign |
Het |
| Mep1a |
T |
G |
17: 43,789,035 (GRCm39) |
R580S |
probably damaging |
Het |
| Methig1 |
A |
T |
15: 100,251,130 (GRCm39) |
I14F |
probably damaging |
Het |
| Mtf1 |
T |
C |
4: 124,715,101 (GRCm39) |
L242P |
probably damaging |
Het |
| Nfkb1 |
C |
A |
3: 135,309,568 (GRCm39) |
A509S |
probably benign |
Het |
| Or2h2b-ps1 |
C |
G |
17: 37,480,858 (GRCm39) |
S227T |
probably benign |
Het |
| Or2n1b |
G |
A |
17: 38,460,003 (GRCm39) |
D175N |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,449 (GRCm39) |
I205K |
probably damaging |
Het |
| Or7a36 |
G |
T |
10: 78,819,928 (GRCm39) |
M101I |
probably benign |
Het |
| Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,907,635 (GRCm39) |
N300I |
probably damaging |
Het |
| Peg10 |
C |
T |
6: 4,755,864 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
T |
A |
6: 14,719,603 (GRCm39) |
D437V |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,783 (GRCm39) |
S682P |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,580,308 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
T |
A |
9: 35,476,932 (GRCm39) |
L243Q |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,605,905 (GRCm39) |
S182G |
probably damaging |
Het |
| Rgs19 |
G |
A |
2: 181,331,336 (GRCm39) |
T99M |
possibly damaging |
Het |
| Ripk2 |
A |
G |
4: 16,127,663 (GRCm39) |
S360P |
possibly damaging |
Het |
| Rock1 |
A |
G |
18: 10,140,210 (GRCm39) |
I127T |
probably damaging |
Het |
| Serpinb10 |
T |
G |
1: 107,469,947 (GRCm39) |
M143R |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 113,093,465 (GRCm39) |
Q226L |
probably damaging |
Het |
| Slc6a19 |
T |
C |
13: 73,839,872 (GRCm39) |
M137V |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,271,291 (GRCm39) |
N415K |
probably benign |
Het |
| Tekt4 |
A |
G |
17: 25,692,749 (GRCm39) |
R192G |
probably damaging |
Het |
| Trgv7 |
A |
T |
13: 19,362,598 (GRCm39) |
K96* |
probably null |
Het |
| Tshz1 |
T |
C |
18: 84,032,053 (GRCm39) |
N785S |
probably benign |
Het |
| Usb1 |
A |
G |
8: 96,070,679 (GRCm39) |
T202A |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,761,363 (GRCm39) |
D348E |
possibly damaging |
Het |
| Vmn1r42 |
T |
G |
6: 89,821,598 (GRCm39) |
I324L |
probably benign |
Het |
| Wnt8a |
A |
T |
18: 34,678,656 (GRCm39) |
R157* |
probably null |
Het |
| Zfp235 |
A |
G |
7: 23,836,546 (GRCm39) |
K31E |
probably damaging |
Het |
| Zhx2 |
G |
C |
15: 57,686,089 (GRCm39) |
W486S |
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 |
|
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 |
|
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'- GTTCCTGAGTGTAATGACCCAG -3'
(R):5'- GCATTGTACACGACAGGGATTC -3'
Sequencing Primer
(F):5'- CTGAGTGTAATGACCCAGTCGTC -3'
(R):5'- CATTGTACACGACAGGGATTCAAATG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation