Incidental Mutation 'R6119:Ypel3'
ID 485659
Institutional Source Beutler Lab
Gene Symbol Ypel3
Ensembl Gene ENSMUSG00000042675
Gene Name yippee like 3
Synonyms Suap, 1190001G19Rik, 0610043B10Rik
MMRRC Submission 044429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6119 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126376135-126379682 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126377537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 74 (V74A)
Ref Sequence ENSEMBL: ENSMUSP00000115596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032944] [ENSMUST00000038614] [ENSMUST00000094037] [ENSMUST00000106356] [ENSMUST00000106357] [ENSMUST00000170882] [ENSMUST00000145762] [ENSMUST00000172352] [ENSMUST00000132643] [ENSMUST00000106359]
AlphaFold P61237
Predicted Effect probably benign
Transcript: ENSMUST00000032944
SMART Domains Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Pfam:GDPD 44 202 1.1e-23 PFAM
low complexity region 208 216 N/A INTRINSIC
low complexity region 311 321 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000038614
AA Change: V74A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037332
Gene: ENSMUSG00000042675
AA Change: V74A

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 114 6.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068836
Predicted Effect probably benign
Transcript: ENSMUST00000094037
SMART Domains Protein: ENSMUSP00000091579
Gene: ENSMUSG00000030699

DomainStartEndE-ValueType
low complexity region 55 75 N/A INTRINSIC
TBOX 90 278 1.79e-128 SMART
low complexity region 332 348 N/A INTRINSIC
low complexity region 414 428 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106356
AA Change: V74A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101963
Gene: ENSMUSG00000042675
AA Change: V74A

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 114 5.4e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106357
AA Change: V74A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101964
Gene: ENSMUSG00000042675
AA Change: V74A

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 114 5.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150760
Predicted Effect possibly damaging
Transcript: ENSMUST00000170882
AA Change: V74A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128753
Gene: ENSMUSG00000042675
AA Change: V74A

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 114 5.4e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145762
AA Change: V74A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115596
Gene: ENSMUSG00000042675
AA Change: V74A

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 103 2.5e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143078
Predicted Effect probably benign
Transcript: ENSMUST00000172352
SMART Domains Protein: ENSMUSP00000126418
Gene: ENSMUSG00000030699

DomainStartEndE-ValueType
low complexity region 55 75 N/A INTRINSIC
TBOX 90 278 1.79e-128 SMART
low complexity region 333 349 N/A INTRINSIC
low complexity region 415 429 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132643
Predicted Effect probably benign
Transcript: ENSMUST00000106359
Meta Mutation Damage Score 0.8573 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging Het
Other mutations in Ypel3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Ypel3 APN 7 126,377,033 (GRCm39) missense probably damaging 1.00
IGL03167:Ypel3 APN 7 126,379,247 (GRCm39) missense probably damaging 1.00
Yelp UTSW 7 126,377,537 (GRCm39) missense possibly damaging 0.93
Ypres UTSW 7 126,377,269 (GRCm39) missense possibly damaging 0.94
R4084:Ypel3 UTSW 7 126,377,537 (GRCm39) missense possibly damaging 0.93
R4105:Ypel3 UTSW 7 126,377,265 (GRCm39) missense probably damaging 1.00
R4911:Ypel3 UTSW 7 126,376,961 (GRCm39) missense probably benign
R5435:Ypel3 UTSW 7 126,374,960 (GRCm39) unclassified probably benign
R7372:Ypel3 UTSW 7 126,379,200 (GRCm39) missense probably benign 0.23
R7816:Ypel3 UTSW 7 126,377,013 (GRCm39) missense probably damaging 1.00
R8137:Ypel3 UTSW 7 126,377,269 (GRCm39) missense possibly damaging 0.94
R9432:Ypel3 UTSW 7 126,379,262 (GRCm39) missense probably benign 0.01
R9771:Ypel3 UTSW 7 126,379,226 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGGAAGCCATGATCAGGC -3'
(R):5'- TTCGAGGGAAGAGAACACCC -3'

Sequencing Primer
(F):5'- GAAGCCATGATCAGGCTCCTCTTAG -3'
(R):5'- TGGACAAACGCCAGTCACTG -3'
Posted On 2017-08-16