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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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