Incidental Mutation 'IGL02221:Yipf2'
ID285135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yipf2
Ensembl Gene ENSMUSG00000032182
Gene NameYip1 domain family, member 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL02221
Quality Score
Status
Chromosome9
Chromosomal Location21588682-21592828 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21591468 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 106 (N106S)
Ref Sequence ENSEMBL: ENSMUSP00000136463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034700] [ENSMUST00000034703] [ENSMUST00000062125] [ENSMUST00000078572] [ENSMUST00000115394] [ENSMUST00000115395] [ENSMUST00000130032] [ENSMUST00000180365] [ENSMUST00000213809]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034700
AA Change: N106S

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034700
Gene: ENSMUSG00000032182
AA Change: N106S

DomainStartEndE-ValueType
Pfam:Yip1 84 272 1.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034703
SMART Domains Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2.1e-71 PFAM
Pfam:PRMT5 144 447 2.3e-16 PFAM
Pfam:MTS 166 308 2.7e-10 PFAM
Pfam:Methyltransf_9 168 318 1.1e-9 PFAM
Pfam:PrmA 173 287 2.2e-12 PFAM
Pfam:Methyltransf_31 183 325 7.4e-11 PFAM
Pfam:Methyltransf_18 185 290 5.1e-12 PFAM
Pfam:Methyltransf_26 186 287 5.3e-10 PFAM
Pfam:Methyltransf_11 190 287 8.5e-7 PFAM
low complexity region 477 494 N/A INTRINSIC
low complexity region 562 576 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062125
SMART Domains Protein: ENSMUSP00000058283
Gene: ENSMUSG00000048429

DomainStartEndE-ValueType
Pfam:DUF2366 26 192 2.1e-63 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000078572
AA Change: N106S

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077649
Gene: ENSMUSG00000032182
AA Change: N106S

DomainStartEndE-ValueType
Pfam:Yip1 84 272 1.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115394
SMART Domains Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
Pfam:CARM1 29 140 4.7e-63 PFAM
Pfam:PRMT5 145 447 4.1e-16 PFAM
Pfam:Methyltransf_9 168 318 1.4e-9 PFAM
Pfam:MTS 170 299 2.5e-9 PFAM
Pfam:PrmA 175 287 3.7e-12 PFAM
Pfam:Methyltransf_31 183 326 1.9e-10 PFAM
Pfam:Methyltransf_18 185 290 4e-9 PFAM
Pfam:Methyltransf_11 190 287 6.5e-7 PFAM
low complexity region 477 494 N/A INTRINSIC
low complexity region 606 619 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115395
SMART Domains Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2e-71 PFAM
Pfam:PRMT5 144 447 2.1e-16 PFAM
Pfam:MTS 166 308 2.6e-10 PFAM
Pfam:Methyltransf_9 168 318 1.1e-9 PFAM
Pfam:PrmA 172 287 2.1e-12 PFAM
Pfam:Methyltransf_31 183 326 6.9e-11 PFAM
Pfam:Methyltransf_18 185 290 4.8e-12 PFAM
Pfam:Methyltransf_26 186 287 5e-10 PFAM
Pfam:Methyltransf_11 190 287 8.1e-7 PFAM
low complexity region 477 494 N/A INTRINSIC
low complexity region 540 553 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130032
SMART Domains Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2.8e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154049
Predicted Effect possibly damaging
Transcript: ENSMUST00000180365
AA Change: N106S

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136463
Gene: ENSMUSG00000032182
AA Change: N106S

DomainStartEndE-ValueType
Pfam:Yip1 84 272 1.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213809
Predicted Effect probably benign
Transcript: ENSMUST00000216160
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,356,948 I24M probably benign Het
Ano5 G A 7: 51,570,323 D390N probably damaging Het
Atp2c2 A G 8: 119,744,334 Y407C probably damaging Het
B430306N03Rik T C 17: 48,324,195 probably benign Het
BC052040 T C 2: 115,639,066 probably null Het
Cd44 A T 2: 102,846,513 M269K probably benign Het
Cpped1 G T 16: 11,828,528 P144Q probably damaging Het
Epas1 C T 17: 86,827,847 T636M possibly damaging Het
Hsd17b3 G T 13: 64,089,051 H26Q probably benign Het
Ighv8-9 A G 12: 115,468,327 probably benign Het
Itih1 A T 14: 30,929,587 C883S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lcn3 A T 2: 25,766,160 M76L probably benign Het
Lin9 A T 1: 180,650,834 M53L probably benign Het
Mast1 A G 8: 84,918,755 V687A possibly damaging Het
Mmd2 C T 5: 142,569,457 probably benign Het
Mroh2b T C 15: 4,923,641 L619S probably damaging Het
Ngef T C 1: 87,540,696 T114A probably benign Het
Nlrp12 T C 7: 3,240,967 D305G possibly damaging Het
Nlrp1a A T 11: 71,123,118 F435L possibly damaging Het
Nup188 A G 2: 30,330,641 I909V possibly damaging Het
Osbpl3 A C 6: 50,327,367 probably benign Het
P2ry2 G T 7: 100,998,114 P328H possibly damaging Het
Prex2 A T 1: 11,061,345 N46I probably benign Het
Prss42 T C 9: 110,803,175 F325L possibly damaging Het
Reep5 A G 18: 34,349,797 F120L probably damaging Het
Scg3 G T 9: 75,683,657 F23L probably damaging Het
Scx A G 15: 76,459,095 D200G probably benign Het
Setd5 C T 6: 113,121,170 probably benign Het
Tcf4 T A 18: 69,347,367 S23R probably damaging Het
Ttc4 A G 4: 106,676,596 probably null Het
Tyro3 T A 2: 119,812,590 C627S probably benign Het
Zfp619 T C 7: 39,536,910 L788P probably benign Het
Zfp831 G A 2: 174,643,726 V65I probably benign Het
Zgpat T C 2: 181,378,858 S275P probably benign Het
Other mutations in Yipf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Yipf2 APN 9 21592524 splice site probably null
IGL02559:Yipf2 APN 9 21592186 missense probably damaging 0.96
IGL03055:Yipf2 UTSW 9 21589723 missense probably benign 0.00
R0089:Yipf2 UTSW 9 21591966 missense possibly damaging 0.89
R0113:Yipf2 UTSW 9 21590116 missense probably damaging 0.98
R0725:Yipf2 UTSW 9 21592223 splice site probably null
R2294:Yipf2 UTSW 9 21589881 missense probably damaging 1.00
R3154:Yipf2 UTSW 9 21589901 missense probably benign 0.01
R3428:Yipf2 UTSW 9 21589645 intron probably benign
R4956:Yipf2 UTSW 9 21591908 missense probably damaging 1.00
R5353:Yipf2 UTSW 9 21591932 missense possibly damaging 0.66
R5490:Yipf2 UTSW 9 21592191 missense probably benign 0.10
R6599:Yipf2 UTSW 9 21589848 missense probably damaging 0.98
R7050:Yipf2 UTSW 9 21592178 missense probably benign 0.00
R7206:Yipf2 UTSW 9 21590361 missense probably damaging 1.00
Posted On2015-04-16