Incidental Mutation 'R6013:Ypel1'
| ID |
479874 |
| 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 |
044189-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16887560-16904909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16918129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 96
(N96D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023455]
[ENSMUST00000115719]
[ENSMUST00000115721]
[ENSMUST00000164458]
[ENSMUST00000231245]
[ENSMUST00000231712]
[ENSMUST00000231451]
[ENSMUST00000232481]
|
| AlphaFold |
Q9ESC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023455
AA Change: N96D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023455
Gene: ENSMUSG00000022771
AA Change: N96D
| 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 |
possibly damaging
Transcript: ENSMUST00000115719
AA Change: N96D
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111384
Gene: ENSMUSG00000022771
AA Change: N96D
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
42 |
101 |
2.53e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115721
AA Change: N96D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111386
Gene: ENSMUSG00000022771
AA Change: N96D
| 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: ENSMUST00000141129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153927
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164458
AA Change: N96D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131422
Gene: ENSMUSG00000022771
AA Change: N96D
| 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: ENSMUST00000156521
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231245
AA Change: N96D
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231712
AA Change: N96D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231451
AA Change: N96D
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232323
|
| Meta Mutation Damage Score |
0.3591 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (54/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
C |
T |
3: 6,682,310 (GRCm39) |
|
probably null |
Het |
| Aanat |
A |
T |
11: 116,486,950 (GRCm39) |
|
probably null |
Het |
| Abca17 |
A |
T |
17: 24,506,820 (GRCm39) |
V1178E |
possibly damaging |
Het |
| Abcf3 |
T |
A |
16: 20,369,311 (GRCm39) |
|
probably null |
Het |
| Alk |
A |
G |
17: 72,207,732 (GRCm39) |
M1001T |
probably benign |
Het |
| Arhgap23 |
C |
A |
11: 97,391,818 (GRCm39) |
S1445Y |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,447,538 (GRCm39) |
I760T |
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,768,572 (GRCm39) |
|
probably benign |
Het |
| Car10 |
A |
T |
11: 93,076,105 (GRCm39) |
|
probably benign |
Het |
| Casq2 |
G |
T |
3: 102,052,945 (GRCm39) |
|
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,809,403 (GRCm39) |
V928I |
possibly damaging |
Het |
| Clec4f |
T |
C |
6: 83,632,070 (GRCm39) |
I55V |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 96,010,949 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,972,098 (GRCm39) |
|
probably null |
Het |
| Cyp2c39 |
A |
C |
19: 39,501,969 (GRCm39) |
R119S |
probably benign |
Het |
| Cyp4f16 |
C |
T |
17: 32,765,652 (GRCm39) |
A345V |
probably null |
Het |
| Ddx43 |
T |
C |
9: 78,321,567 (GRCm39) |
L412S |
probably damaging |
Het |
| Dnajb12 |
G |
A |
10: 59,730,163 (GRCm39) |
|
probably null |
Het |
| Ephx2 |
A |
G |
14: 66,347,691 (GRCm39) |
S56P |
probably benign |
Het |
| Fam83h |
A |
G |
15: 75,875,849 (GRCm39) |
F496S |
probably damaging |
Het |
| Gcnt4 |
T |
C |
13: 97,083,786 (GRCm39) |
S361P |
possibly damaging |
Het |
| H2-T23 |
G |
T |
17: 36,341,474 (GRCm39) |
H332Q |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,145,859 (GRCm39) |
V45A |
probably benign |
Het |
| Ift57 |
G |
T |
16: 49,519,667 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
A |
G |
1: 40,391,017 (GRCm39) |
H320R |
possibly damaging |
Het |
| Kansl1 |
A |
G |
11: 104,241,465 (GRCm39) |
V618A |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,728,665 (GRCm39) |
E157G |
probably benign |
Het |
| Magohb |
T |
A |
6: 131,270,037 (GRCm39) |
D31V |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,715,713 (GRCm39) |
F1993L |
probably damaging |
Het |
| Med29 |
C |
A |
7: 28,086,418 (GRCm39) |
C130F |
probably benign |
Het |
| Mtmr7 |
G |
A |
8: 41,034,570 (GRCm39) |
R251C |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,211,903 (GRCm39) |
I49V |
probably benign |
Het |
| Nfkb1 |
G |
T |
3: 135,332,445 (GRCm39) |
T109K |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,819,452 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
T |
A |
1: 135,811,648 (GRCm39) |
T408S |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,073,510 (GRCm39) |
D501E |
possibly damaging |
Het |
| Prcp |
A |
C |
7: 92,576,976 (GRCm39) |
Y335S |
possibly damaging |
Het |
| Reg2 |
T |
A |
6: 78,384,952 (GRCm39) |
Y165N |
possibly damaging |
Het |
| Rnf7 |
T |
C |
9: 96,353,787 (GRCm39) |
*114W |
probably null |
Het |
| Scg3 |
T |
C |
9: 75,584,090 (GRCm39) |
D137G |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,377,919 (GRCm39) |
V204A |
probably benign |
Het |
| Sez6 |
C |
T |
11: 77,864,623 (GRCm39) |
H528Y |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,039,457 (GRCm39) |
S723T |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,963,533 (GRCm39) |
D594G |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,063,904 (GRCm39) |
L2174P |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,553,181 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
T |
14: 51,098,505 (GRCm39) |
F429I |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,580,228 (GRCm39) |
I1409F |
probably benign |
Het |
| Usp25 |
G |
A |
16: 76,873,909 (GRCm39) |
G495E |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,231,114 (GRCm39) |
S844G |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,341,287 (GRCm39) |
H1176L |
possibly damaging |
Het |
| Zfand6 |
C |
A |
7: 84,281,900 (GRCm39) |
V110L |
probably benign |
Het |
| Zfp30 |
A |
G |
7: 29,488,846 (GRCm39) |
R8G |
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 |
|
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'- AACACTGGGTAGCACTGTGC -3'
(R):5'- CATTTCTGTGTAAGCTGCAGAGG -3'
Sequencing Primer
(F):5'- TAGTTCAATTCCCAGCGACTACATGG -3'
(R):5'- TAAGCTGCAGAGGGTCAGTTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation