Incidental Mutation 'IGL02108:Chid1'
ID280011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chid1
Ensembl Gene ENSMUSG00000025512
Gene Namechitinase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02108
Quality Score
Status
Chromosome7
Chromosomal Location141493136-141539857 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 141532928 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000114693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026586] [ENSMUST00000118694] [ENSMUST00000143561] [ENSMUST00000153191] [ENSMUST00000166082] [ENSMUST00000209452]
Predicted Effect probably benign
Transcript: ENSMUST00000026586
AA Change: M4K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000026586
Gene: ENSMUSG00000025512
AA Change: M4K

DomainStartEndE-ValueType
PDB:3BXW|A 4 240 1e-142 PDB
Blast:Glyco_18 82 302 1e-139 BLAST
SCOP:d1e9la1 84 240 1e-15 SMART
Predicted Effect unknown
Transcript: ENSMUST00000064642
AA Change: M2K
SMART Domains Protein: ENSMUSP00000065953
Gene: ENSMUSG00000025512
AA Change: M2K

DomainStartEndE-ValueType
PDB:3BXW|A 3 236 1e-143 PDB
Blast:Glyco_18 81 268 1e-121 BLAST
SCOP:d1e9la1 83 236 2e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118694
AA Change: M1K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112891
Gene: ENSMUSG00000025512
AA Change: M1K

DomainStartEndE-ValueType
PDB:3BXW|A 1 237 1e-142 PDB
Blast:Glyco_18 79 299 1e-139 BLAST
SCOP:d1e9la1 81 237 1e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133359
Predicted Effect probably null
Transcript: ENSMUST00000143561
AA Change: M1K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115174
Gene: ENSMUSG00000025512
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
Pfam:Glyco_hydro_18 79 263 4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147610
Predicted Effect probably null
Transcript: ENSMUST00000153191
AA Change: M1K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114693
Gene: ENSMUSG00000025512
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
Glyco_18 79 385 3.54e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166082
AA Change: M4K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130360
Gene: ENSMUSG00000025512
AA Change: M4K

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
Glyco_18 82 388 3.54e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000209452
AA Change: M1K

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccdc190 A G 1: 169,933,986 D219G probably damaging Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Cecr2 G A 6: 120,762,558 probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Gpihbp1 T C 15: 75,597,612 V92A probably benign Het
Grsf1 C T 5: 88,665,903 R329Q probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Lcn2 A T 2: 32,387,605 L124Q probably damaging Het
Mbl1 T C 14: 41,153,651 S21P possibly damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Odf1 C A 15: 38,226,379 Y174* probably null Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Pde9a G A 17: 31,461,693 S316N probably benign Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tmem127 T A 2: 127,257,106 S132T probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P probably damaging Het
Other mutations in Chid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Chid1 APN 7 141522696 missense probably damaging 1.00
IGL01095:Chid1 APN 7 141530229 missense probably damaging 1.00
IGL01382:Chid1 APN 7 141530253 missense probably damaging 1.00
IGL01505:Chid1 APN 7 141513894 splice site probably null
IGL02216:Chid1 APN 7 141496593 splice site probably benign
IGL02574:Chid1 APN 7 141496690 splice site probably benign
R0006:Chid1 UTSW 7 141496426 splice site probably benign
R0006:Chid1 UTSW 7 141496426 splice site probably benign
R0711:Chid1 UTSW 7 141496677 missense probably benign
R1518:Chid1 UTSW 7 141528471 missense probably damaging 0.98
R1836:Chid1 UTSW 7 141526496 splice site probably null
R5026:Chid1 UTSW 7 141513836 missense probably damaging 0.99
R5516:Chid1 UTSW 7 141496146 missense probably damaging 1.00
R5811:Chid1 UTSW 7 141530253 missense probably damaging 1.00
R6009:Chid1 UTSW 7 141529580 missense probably damaging 1.00
R6182:Chid1 UTSW 7 141528502 missense probably benign 0.08
R6238:Chid1 UTSW 7 141496136 missense probably benign 0.03
R6966:Chid1 UTSW 7 141496384 missense possibly damaging 0.89
R7106:Chid1 UTSW 7 141522660 missense probably benign 0.01
R7278:Chid1 UTSW 7 141529488 intron probably null
R7773:Chid1 UTSW 7 141529605 missense probably benign 0.02
Posted On2015-04-16