Incidental Mutation 'RF014:Ypel1'
ID 603437
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF014 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 16887560-16904909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16915282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 109 (V109M)
Ref Sequence ENSEMBL: ENSMUSP00000023455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023455] [ENSMUST00000164458] [ENSMUST00000231245] [ENSMUST00000231451] [ENSMUST00000231712] [ENSMUST00000232481]
AlphaFold Q9ESC7
Predicted Effect probably damaging
Transcript: ENSMUST00000023455
AA Change: V109M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023455
Gene: ENSMUSG00000022771
AA Change: V109M

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 damaging
Transcript: ENSMUST00000164458
AA Change: V109M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131422
Gene: ENSMUSG00000022771
AA Change: V109M

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 damaging
Transcript: ENSMUST00000231245
AA Change: V109M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000231451
AA Change: V109M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231712
AA Change: V109M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232481
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency 98% (49/50)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,820 (GRCm39) probably benign Het
A2ml1 T C 6: 128,547,031 (GRCm39) N366S probably damaging Het
Abca5 T C 11: 110,170,580 (GRCm39) probably null Het
Acaca T C 11: 84,122,550 (GRCm39) V323A probably benign Het
Agbl3 T A 6: 34,776,293 (GRCm39) D266E possibly damaging Het
Aggf1 A T 13: 95,507,276 (GRCm39) S170T possibly damaging Het
Amhr2 A T 15: 102,361,589 (GRCm39) S467C probably benign Het
Begain GCCGCC GCCGCCACCGCC 12: 108,999,348 (GRCm39) probably benign Het
Best3 A T 10: 116,840,410 (GRCm39) Q280L probably damaging Het
Calhm1 CTGTGGCTGTGG CTGTGGCTGTGGGTGTGGCTGTGG 19: 47,129,704 (GRCm39) probably benign Het
Ccdc186 A G 19: 56,801,904 (GRCm39) L71S probably benign Het
Ces1d C A 8: 93,902,793 (GRCm39) probably null Het
Chga AGC AGCGGC 12: 102,527,652 (GRCm39) probably benign Het
Chga AGC AGCTGC 12: 102,527,664 (GRCm39) probably benign Het
Clstn3 T A 6: 124,436,225 (GRCm39) K212* probably null Het
Col16a1 TTTTT TTTTTCTTTT 4: 129,986,860 (GRCm39) probably benign Het
Cpxm2 G T 7: 131,672,592 (GRCm39) T319K possibly damaging Het
Cyb5r4 TGCCCAGGGATGTGACAGACACAC TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC 9: 86,922,468 (GRCm39) probably benign Het
Dst T C 1: 34,286,760 (GRCm39) S3364P probably benign Het
Edc4 C T 8: 106,611,232 (GRCm39) T61M probably benign Het
Fndc5 A G 4: 129,035,960 (GRCm39) H199R probably benign Het
Gm43302 T A 5: 105,422,623 (GRCm39) I470F possibly damaging Het
Gne G T 4: 44,060,045 (GRCm39) A147D probably damaging Het
Igkv12-89 G GCAACGCCAC 6: 68,812,270 (GRCm39) probably benign Het
Irf9 C T 14: 55,843,334 (GRCm39) R179* probably null Het
Jakmip1 A T 5: 37,331,870 (GRCm39) K850M possibly damaging Het
Kalrn G A 16: 33,860,303 (GRCm39) T1884I probably benign Het
Krtap28-10 CCACCACAGCCACAGCCACCACAGCCACAG CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG 1: 83,019,972 (GRCm39) probably benign Het
Las1l CTCCTCCTTCTCCTCTTCCTC CTCCTC X: 94,984,263 (GRCm39) probably benign Het
Lctl A G 9: 64,026,212 (GRCm39) Y89C probably damaging Het
Lpgat1 GCC GCCTCC 1: 191,450,665 (GRCm39) probably benign Het
Luzp2 A T 7: 54,821,953 (GRCm39) I157F probably damaging Het
Lyz3 A G 10: 117,070,322 (GRCm39) *152Q probably null Het
Mamld1 GCA GCACCA X: 70,162,451 (GRCm39) probably benign Het
Map1a GCTCCAGCTCCAGCTCCAGCTCCA GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA 2: 121,136,776 (GRCm39) probably benign Het
Mbd3l1 A T 9: 18,396,296 (GRCm39) E140D possibly damaging Het
Mlh3 T A 12: 85,314,803 (GRCm39) Q461L probably benign Het
Mto1 G T 9: 78,355,598 (GRCm39) R7L probably benign Het
Muc4 A T 16: 32,570,676 (GRCm39) S579C probably damaging Het
Ngfr T C 11: 95,469,027 (GRCm39) Y117C probably damaging Het
Or10aa3 A T 1: 173,878,553 (GRCm39) I205F possibly damaging Het
Or13a23-ps1 A T 7: 140,118,690 (GRCm39) M87L probably benign Het
Or8d2b C A 9: 38,789,196 (GRCm39) H241Q probably benign Het
Plch2 A G 4: 155,091,577 (GRCm39) S179P probably damaging Het
Pogz T G 3: 94,785,558 (GRCm39) S838A possibly damaging Het
Polr1has CACCACCACCAC CACCACCACCACCACCACCACGACCACCACCAC 17: 37,275,952 (GRCm39) probably benign Het
Pot1b T A 17: 55,981,106 (GRCm39) T303S probably benign Het
Pou2f2 T A 7: 24,815,162 (GRCm39) I72L unknown Het
Ptpn4 A G 1: 119,612,195 (GRCm39) probably null Het
Ptprs A T 17: 56,723,935 (GRCm39) I1686N probably damaging Het
Rfx4 CTCTCT CTCTCTCTCTCTCTCTTTCTCT 10: 84,694,353 (GRCm39) probably benign Het
Rnf14 T A 18: 38,442,623 (GRCm39) V308E probably damaging Het
Setd1a TGGTGGTGG TGGTGGTGGGGGTGGTGG 7: 127,384,518 (GRCm39) probably benign Het
Sgo2b T C 8: 64,384,439 (GRCm39) T186A possibly damaging Het
Six3 CGG CGGTGG 17: 85,928,784 (GRCm39) probably benign Het
Six4 TG T 12: 73,150,356 (GRCm39) probably null Het
Spmap2l CAGCGATCCTCCCCAGTCCCGCA CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA 5: 77,164,247 (GRCm39) probably benign Het
Stox1 T A 10: 62,500,025 (GRCm39) H845L probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,086 (GRCm39) probably benign Het
Trappc9 A AGCTGCTGCTGCTGCT 15: 72,673,132 (GRCm39) probably benign Het
Trim33 T C 3: 103,236,408 (GRCm39) V506A possibly damaging Het
Uckl1 T C 2: 181,211,987 (GRCm39) D373G probably benign Het
Vmn2r94 G T 17: 18,473,549 (GRCm39) C492* probably null Het
Wdr33 A G 18: 32,014,326 (GRCm39) D396G probably damaging Het
Zbtb11 A T 16: 55,800,960 (GRCm39) I105L probably damaging Het
Zbtb40 A T 4: 136,744,617 (GRCm39) C268S probably benign Het
Zfp36l1 T A 12: 80,156,518 (GRCm39) M288L probably benign Het
Zfp384 CC CCAAGGCCCAGGAC 6: 125,013,429 (GRCm39) probably benign Het
Zfp87 A G 13: 74,523,173 (GRCm39) F15S 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
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
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
X0010:Ypel1 UTSW 16 16,912,901 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- CTTGTGCTAGAGGCTACGAAAG -3'
(R):5'- CTAGGCAAATACCCTGCTGC -3'

Sequencing Primer
(F):5'- TTGTGCTAGAGGCTACGAAAGGTATG -3'
(R):5'- CCACTTTGAGACAATGTCGTG -3'
Posted On 2019-12-04