Incidental Mutation 'IGL02110:Chpf2'
ID280074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chpf2
Ensembl Gene ENSMUSG00000038181
Gene Namechondroitin polymerizing factor 2
Synonyms2010209O12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02110
Quality Score
Status
Chromosome5
Chromosomal Location24586741-24594556 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24591712 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 552 (E552G)
Ref Sequence ENSEMBL: ENSMUSP00000112804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030791] [ENSMUST00000088295] [ENSMUST00000121863] [ENSMUST00000195943] [ENSMUST00000197318]
Predicted Effect probably benign
Transcript: ENSMUST00000030791
SMART Domains Protein: ENSMUSP00000030791
Gene: ENSMUSG00000028949

DomainStartEndE-ValueType
low complexity region 40 55 N/A INTRINSIC
low complexity region 72 89 N/A INTRINSIC
low complexity region 93 102 N/A INTRINSIC
Blast:KISc 103 239 5e-41 BLAST
SWIB 259 338 3.6e-29 SMART
Blast:MYSc 420 466 1e-11 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000088295
AA Change: E552G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085633
Gene: ENSMUSG00000038181
AA Change: E552G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Fringe 143 298 3.2e-11 PFAM
Pfam:CHGN 242 755 1.7e-144 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102432
Predicted Effect probably damaging
Transcript: ENSMUST00000121863
AA Change: E552G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112804
Gene: ENSMUSG00000038181
AA Change: E552G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Fringe 143 298 3.2e-11 PFAM
Pfam:CHGN 242 755 3e-176 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147857
Predicted Effect probably benign
Transcript: ENSMUST00000195943
SMART Domains Protein: ENSMUSP00000143437
Gene: ENSMUSG00000028949

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
low complexity region 43 60 N/A INTRINSIC
low complexity region 64 73 N/A INTRINSIC
Blast:KISc 74 210 2e-41 BLAST
SWIB 230 309 2.3e-31 SMART
Blast:MYSc 391 437 8e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000197318
SMART Domains Protein: ENSMUSP00000143185
Gene: ENSMUSG00000038181

DomainStartEndE-ValueType
Pfam:CHGN 1 74 7.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197566
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931409K22Rik A G 5: 24,548,084 probably benign Het
Apol7e A G 15: 77,714,348 probably null Het
Arhgef40 C T 14: 51,989,405 T302M probably damaging Het
Bap1 T C 14: 31,257,414 L458P probably damaging Het
Bbs12 A G 3: 37,319,187 E43G probably benign Het
Bod1l C T 5: 41,816,453 C2506Y probably damaging Het
Ccdc170 A G 10: 4,541,885 probably null Het
Comp T A 8: 70,373,639 I23N probably benign Het
Cxcl2 T C 5: 90,904,352 probably benign Het
Dctn5 T C 7: 122,135,151 F73L probably damaging Het
Ddx5 T C 11: 106,785,009 E285G probably damaging Het
Ddx60 T G 8: 62,017,247 probably null Het
Dhcr24 T A 4: 106,573,801 I229N probably damaging Het
Dnah7a G A 1: 53,411,580 T3897I possibly damaging Het
Dvl2 T A 11: 70,008,016 probably benign Het
Dytn A T 1: 63,647,473 V346E possibly damaging Het
Eepd1 T C 9: 25,603,402 probably benign Het
Fbln2 G T 6: 91,234,102 A343S probably benign Het
Flywch1 T C 17: 23,763,092 probably null Het
Gckr A T 5: 31,298,738 T81S possibly damaging Het
Gm6139 T A 5: 129,623,592 noncoding transcript Het
Gpcpd1 A T 2: 132,530,610 C657* probably null Het
Greb1l A G 18: 10,515,271 I89V probably damaging Het
Hdac4 G A 1: 91,984,405 P421S probably benign Het
Klhl1 A G 14: 96,136,603 L669P probably benign Het
Mios A G 6: 8,215,565 R254G probably damaging Het
Mmp19 A G 10: 128,794,858 N116D probably damaging Het
Muc5b T A 7: 141,847,716 C566* probably null Het
Nadsyn1 T C 7: 143,813,427 Y141C probably damaging Het
Nlrp4d T C 7: 10,382,564 noncoding transcript Het
Nob1 A T 8: 107,416,172 *160R probably null Het
Olfr1295 C T 2: 111,564,907 C179Y probably damaging Het
Olfr1366 T A 13: 21,537,942 Q21L possibly damaging Het
Olfr346 A G 2: 36,688,685 T228A probably benign Het
Olfr455 A G 6: 42,538,179 V281A possibly damaging Het
Olfr504 C A 7: 108,565,079 A239S probably damaging Het
Olfr571 C T 7: 102,909,195 V215I probably benign Het
Phc1 T C 6: 122,322,035 D658G possibly damaging Het
Pitx2 T G 3: 129,218,817 S299A probably damaging Het
Plekha7 C A 7: 116,154,628 probably null Het
Ptgfr A G 3: 151,835,460 V137A probably damaging Het
Ptprb T C 10: 116,331,203 probably benign Het
Rasl2-9 C T 7: 5,125,347 A195T probably benign Het
Ripor3 T A 2: 167,994,706 Q121L possibly damaging Het
Sgsh G T 11: 119,352,806 A30E probably damaging Het
Sis G T 3: 72,928,699 C852* probably null Het
Slc17a9 A G 2: 180,732,576 probably benign Het
Slco6b1 A T 1: 96,987,882 noncoding transcript Het
Smarca2 A G 19: 26,672,740 Y704C possibly damaging Het
Spata6 A T 4: 111,784,806 H291L possibly damaging Het
Stra8 T C 6: 34,930,354 probably benign Het
Taldo1 T C 7: 141,402,734 probably benign Het
Tmco6 T C 18: 36,735,166 probably benign Het
Tmpo A C 10: 91,162,865 S353R probably damaging Het
Tpr A T 1: 150,435,742 Q1757L probably damaging Het
Ubn1 T C 16: 5,081,890 probably benign Het
Vmn2r83 T C 10: 79,491,700 V714A possibly damaging Het
Zfp407 G T 18: 84,559,040 A1316D probably benign Het
Zzef1 T A 11: 72,913,112 I2560N probably damaging Het
Other mutations in Chpf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Chpf2 APN 5 24592261 missense probably damaging 1.00
IGL02625:Chpf2 APN 5 24591711 nonsense probably null
IGL02673:Chpf2 APN 5 24591304 missense probably benign 0.21
R0545:Chpf2 UTSW 5 24590324 missense possibly damaging 0.89
R0571:Chpf2 UTSW 5 24590427 missense probably damaging 1.00
R0732:Chpf2 UTSW 5 24590421 start codon destroyed probably null 0.94
R1196:Chpf2 UTSW 5 24589648 missense possibly damaging 0.61
R2051:Chpf2 UTSW 5 24591276 missense probably benign 0.00
R2057:Chpf2 UTSW 5 24591222 missense probably damaging 1.00
R2147:Chpf2 UTSW 5 24592035 missense probably damaging 1.00
R3719:Chpf2 UTSW 5 24590312 nonsense probably null
R4168:Chpf2 UTSW 5 24591790 missense possibly damaging 0.86
R4632:Chpf2 UTSW 5 24591831 missense probably benign
R5278:Chpf2 UTSW 5 24588090 intron probably benign
R5481:Chpf2 UTSW 5 24589342 missense probably damaging 1.00
R5853:Chpf2 UTSW 5 24592192 missense probably damaging 1.00
R5914:Chpf2 UTSW 5 24592423 unclassified probably benign
R6010:Chpf2 UTSW 5 24591919 missense probably damaging 1.00
R6340:Chpf2 UTSW 5 24591775 missense probably damaging 0.98
R6463:Chpf2 UTSW 5 24589526 missense probably damaging 1.00
R8012:Chpf2 UTSW 5 24590345 missense probably damaging 0.98
R8506:Chpf2 UTSW 5 24588297 missense probably damaging 1.00
Z1177:Chpf2 UTSW 5 24591519 frame shift probably null
Posted On2015-04-16