Incidental Mutation 'IGL02724:Ypel1'
| ID |
305074 |
| 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 # |
IGL02724
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
16887560-16904909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16921466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 73
(Y73H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023455]
[ENSMUST00000115719]
[ENSMUST00000115721]
[ENSMUST00000164458]
[ENSMUST00000231451]
[ENSMUST00000231245]
[ENSMUST00000231712]
[ENSMUST00000232481]
|
| AlphaFold |
Q9ESC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023455
AA Change: Y73H
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000023455
Gene: ENSMUSG00000022771
AA Change: Y73H
| 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: Y73H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000111384
Gene: ENSMUSG00000022771
AA Change: Y73H
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115721
AA Change: Y73H
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000111386
Gene: ENSMUSG00000022771
AA Change: Y73H
| 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: ENSMUST00000153927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156521
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164458
AA Change: Y73H
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000131422
Gene: ENSMUSG00000022771
AA Change: Y73H
| 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: ENSMUST00000231451
AA Change: Y73H
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231245
AA Change: Y73H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231712
AA Change: Y73H
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232481
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
G |
2: 93,676,121 (GRCm39) |
K85Q |
probably damaging |
Het |
| Acmsd |
A |
T |
1: 127,676,822 (GRCm39) |
T116S |
possibly damaging |
Het |
| Agrn |
T |
A |
4: 156,257,264 (GRCm39) |
K1189* |
probably null |
Het |
| Alk |
T |
C |
17: 72,292,455 (GRCm39) |
R508G |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,382,005 (GRCm39) |
Y1123N |
probably damaging |
Het |
| Arl6ip5 |
G |
T |
6: 97,209,365 (GRCm39) |
M133I |
probably benign |
Het |
| Axin2 |
G |
A |
11: 108,833,772 (GRCm39) |
G573D |
possibly damaging |
Het |
| B4galt2 |
A |
G |
4: 117,734,075 (GRCm39) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,807,718 (GRCm39) |
D180E |
possibly damaging |
Het |
| Btnl6 |
G |
T |
17: 34,727,149 (GRCm39) |
Y460* |
probably null |
Het |
| Cct7 |
A |
T |
6: 85,436,131 (GRCm39) |
D14V |
probably damaging |
Het |
| Cd55 |
T |
A |
1: 130,377,149 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh2 |
C |
T |
18: 16,762,537 (GRCm39) |
R526Q |
probably benign |
Het |
| Chi3l1 |
A |
C |
1: 134,116,981 (GRCm39) |
E315A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,163 (GRCm39) |
S642P |
probably benign |
Het |
| Cpm |
C |
A |
10: 117,465,756 (GRCm39) |
T43K |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,006,306 (GRCm39) |
V889A |
unknown |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,453 (GRCm39) |
V293D |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,765,082 (GRCm39) |
D1691E |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,700,659 (GRCm39) |
D2120G |
probably benign |
Het |
| Gal3st4 |
T |
C |
5: 138,263,679 (GRCm39) |
K440R |
probably benign |
Het |
| Gfpt1 |
A |
T |
6: 87,033,164 (GRCm39) |
K130* |
probably null |
Het |
| Gpr26 |
T |
C |
7: 131,576,121 (GRCm39) |
|
probably null |
Het |
| Htr2a |
A |
T |
14: 74,882,502 (GRCm39) |
I163F |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,806,682 (GRCm39) |
E610G |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,716,879 (GRCm39) |
D673G |
probably benign |
Het |
| Ipo8 |
G |
T |
6: 148,692,979 (GRCm39) |
C636* |
probably null |
Het |
| Kirrel1 |
C |
A |
3: 86,997,780 (GRCm39) |
E248* |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,461,228 (GRCm39) |
V743A |
probably damaging |
Het |
| Lrrc45 |
C |
A |
11: 120,609,144 (GRCm39) |
S374R |
probably benign |
Het |
| Map3k9 |
G |
A |
12: 81,771,516 (GRCm39) |
P714S |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,121 (GRCm39) |
L264Q |
possibly damaging |
Het |
| Mroh4 |
C |
A |
15: 74,478,000 (GRCm39) |
W902L |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,085,367 (GRCm39) |
D535E |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,834,817 (GRCm39) |
V713A |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,164,684 (GRCm39) |
V1122M |
possibly damaging |
Het |
| Nsg2 |
A |
G |
11: 32,005,011 (GRCm39) |
|
probably null |
Het |
| Or4c15 |
C |
A |
2: 88,759,792 (GRCm39) |
R289L |
probably damaging |
Het |
| Or8s10 |
T |
A |
15: 98,335,660 (GRCm39) |
F103L |
probably benign |
Het |
| Pax9 |
A |
T |
12: 56,756,604 (GRCm39) |
H314L |
possibly damaging |
Het |
| Phf21a |
A |
T |
2: 92,190,592 (GRCm39) |
I584F |
probably damaging |
Het |
| Pip5k1c |
A |
G |
10: 81,149,296 (GRCm39) |
E536G |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,834,276 (GRCm39) |
S736P |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,573,645 (GRCm39) |
|
probably null |
Het |
| Prdm9 |
A |
T |
17: 15,783,522 (GRCm39) |
S14R |
probably benign |
Het |
| Proc |
A |
G |
18: 32,267,925 (GRCm39) |
I71T |
probably damaging |
Het |
| Prom2 |
T |
A |
2: 127,380,577 (GRCm39) |
|
probably benign |
Het |
| Psd |
T |
C |
19: 46,307,984 (GRCm39) |
T675A |
probably benign |
Het |
| Rnf215 |
G |
T |
11: 4,090,305 (GRCm39) |
R341L |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,732,921 (GRCm39) |
|
probably null |
Het |
| Sh2d7 |
C |
A |
9: 54,448,105 (GRCm39) |
T42N |
probably benign |
Het |
| Sh3glb2 |
C |
T |
2: 30,236,368 (GRCm39) |
G279D |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,738,868 (GRCm39) |
|
probably benign |
Het |
| Snx17 |
T |
C |
5: 31,354,390 (GRCm39) |
S167P |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,067,104 (GRCm39) |
R1937C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Srsf11 |
T |
C |
3: 157,722,068 (GRCm39) |
|
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,876,581 (GRCm39) |
M249L |
probably benign |
Het |
| Tle6 |
G |
A |
10: 81,435,898 (GRCm39) |
Q6* |
probably null |
Het |
| Twnk |
G |
T |
19: 44,996,557 (GRCm39) |
R330L |
probably damaging |
Het |
| Unc13a |
C |
A |
8: 72,108,949 (GRCm39) |
|
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,577,006 (GRCm39) |
T335A |
possibly damaging |
Het |
| Wdtc1 |
A |
T |
4: 133,024,789 (GRCm39) |
S469R |
possibly damaging |
Het |
| Zfp382 |
A |
T |
7: 29,833,162 (GRCm39) |
Y271F |
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 |
|
IGL02708:Ypel1
|
APN |
16 |
16,923,872 (GRCm39) |
missense |
probably benign |
0.03 |
|
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