Incidental Mutation 'IGL02716:Chadl'
ID304787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chadl
Ensembl Gene ENSMUSG00000063765
Gene Namechondroadherin-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL02716
Quality Score
Status
Chromosome15
Chromosomal Location81678296-81697287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81695915 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 40 (N40D)
Ref Sequence ENSEMBL: ENSMUSP00000072682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072910] [ENSMUST00000173598]
Predicted Effect probably damaging
Transcript: ENSMUST00000072910
AA Change: N40D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072682
Gene: ENSMUSG00000063765
AA Change: N40D

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
LRRNT 31 65 3.72e-4 SMART
LRR 59 83 1e1 SMART
LRR_TYP 84 107 7.78e-3 SMART
LRR_TYP 108 131 5.81e-2 SMART
LRR_TYP 132 155 3.89e-3 SMART
LRR_TYP 156 179 6.42e-4 SMART
LRR 180 203 1.37e1 SMART
LRR_TYP 204 227 5.5e-3 SMART
LRR 252 275 3.24e0 SMART
LRR 276 299 2.92e1 SMART
LRRCT 309 357 3.81e-2 SMART
low complexity region 358 372 N/A INTRINSIC
LRRNT 394 428 1.51e-4 SMART
LRR 427 446 1.26e2 SMART
LRR 447 470 3.97e0 SMART
LRR 471 494 1.08e-1 SMART
LRR 496 518 6.23e1 SMART
LRR 519 542 9.48e0 SMART
LRR 544 566 6.96e0 SMART
LRR 568 590 1.14e0 SMART
LRR_TYP 591 614 7.09e-6 SMART
LRR 617 639 3.76e1 SMART
LRR 640 665 6.59e1 SMART
LRRCT 674 722 2.87e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173598
SMART Domains Protein: ENSMUSP00000133834
Gene: ENSMUSG00000063765

DomainStartEndE-ValueType
LRR 5 28 1.08e-1 SMART
LRR 30 52 6.23e1 SMART
LRR 53 76 9.48e0 SMART
LRR 78 100 6.96e0 SMART
LRR 102 124 1.14e0 SMART
LRR_TYP 125 148 7.09e-6 SMART
LRR 151 173 3.76e1 SMART
LRR 174 199 6.59e1 SMART
LRRCT 208 256 2.87e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173898
SMART Domains Protein: ENSMUSP00000133981
Gene: ENSMUSG00000063765

DomainStartEndE-ValueType
LRR 21 40 1.26e2 SMART
LRR 41 64 3.97e0 SMART
LRR 65 88 1.08e-1 SMART
LRR 90 112 6.23e1 SMART
LRR 113 136 9.48e0 SMART
LRR 138 160 6.96e0 SMART
LRR 162 184 1.14e0 SMART
LRR_TYP 185 208 7.09e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230849
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,327,276 S212P probably benign Het
Ago2 C T 15: 73,111,727 R711Q possibly damaging Het
Akp3 A C 1: 87,125,479 D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 Q169L possibly damaging Het
Aspm A G 1: 139,479,687 Y2104C probably damaging Het
Baz2b G A 2: 59,962,524 S420L possibly damaging Het
Cenpo T C 12: 4,215,390 N210S possibly damaging Het
Crebbp T C 16: 4,114,878 E586G probably benign Het
Cts7 T A 13: 61,356,608 Q47L probably benign Het
Cyp2c40 C A 19: 39,807,536 D133Y possibly damaging Het
Dnah3 A T 7: 119,937,023 M3679K probably damaging Het
Dym T C 18: 75,286,683 Y642H probably damaging Het
Efr3b T C 12: 3,984,627 D65G probably damaging Het
Elmo1 T A 13: 20,449,502 F445I probably damaging Het
Epdr1 C T 13: 19,594,570 V119M probably benign Het
Epha4 G T 1: 77,380,965 R799S probably damaging Het
Esyt3 A T 9: 99,317,224 V778E probably damaging Het
F10 A T 8: 13,048,177 K127* probably null Het
Fcgbp G A 7: 28,101,434 E1302K probably damaging Het
Fer1l4 A G 2: 156,029,715 F1382L probably damaging Het
Fhad1 T C 4: 141,918,331 I318V possibly damaging Het
Fscn2 A T 11: 120,366,724 T304S probably benign Het
Gab1 A T 8: 80,769,694 L659Q probably damaging Het
Gm4845 A C 1: 141,256,838 noncoding transcript Het
Gm572 A G 4: 148,654,870 M52V probably benign Het
Hmgcr T C 13: 96,660,012 probably null Het
Kcnk5 T C 14: 20,181,428 T9A probably damaging Het
Krt87 A C 15: 101,434,604 F243V possibly damaging Het
Mast1 G T 8: 84,935,723 P52Q probably damaging Het
Mcf2l A T 8: 12,997,277 Q211L probably benign Het
Mtus2 C A 5: 148,236,310 P968T probably benign Het
Mylk2 T C 2: 152,922,153 *614R probably null Het
Myo15b A T 11: 115,883,709 E2049V probably benign Het
Myo6 A T 9: 80,269,694 H581L probably damaging Het
Numb A T 12: 83,801,208 S241T possibly damaging Het
Olfr1265 G T 2: 90,037,794 V292L probably benign Het
Olfr1283 A T 2: 111,368,781 I50F probably benign Het
Olfr338 A G 2: 36,377,343 D189G possibly damaging Het
Phldb2 A G 16: 45,801,590 S676P probably damaging Het
Rttn G A 18: 89,048,417 E1196K possibly damaging Het
Skiv2l2 T G 13: 112,883,146 D810A probably benign Het
Slc13a3 G A 2: 165,406,715 P548S unknown Het
Slc2a7 A G 4: 150,160,010 probably benign Het
Slc37a1 T C 17: 31,328,161 S261P possibly damaging Het
Spryd3 T A 15: 102,133,461 Y42F possibly damaging Het
Srrm3 A G 5: 135,854,433 probably null Het
Stambp G A 6: 83,556,390 T297I probably damaging Het
Sypl T A 12: 32,967,669 Y129N probably damaging Het
Syt14 G A 1: 192,980,535 P368S possibly damaging Het
Tas2r122 T C 6: 132,711,264 D222G probably damaging Het
Tead2 C A 7: 45,232,296 Y79* probably null Het
Tmem251 A G 12: 102,744,829 T104A probably benign Het
Uso1 T C 5: 92,173,935 V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 S97P probably damaging Het
Vmn2r82 T A 10: 79,377,844 V88D probably benign Het
Vps29 A G 5: 122,362,066 T85A probably benign Het
Wdr90 T A 17: 25,857,220 S500C probably damaging Het
Zfp958 G A 8: 4,625,967 probably null Het
Other mutations in Chadl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02649:Chadl APN 15 81695858 missense probably benign 0.43
R0049:Chadl UTSW 15 81694012 missense probably benign 0.00
R0751:Chadl UTSW 15 81693057 missense probably benign 0.00
R1184:Chadl UTSW 15 81693057 missense probably benign 0.00
R1983:Chadl UTSW 15 81693896 missense probably benign 0.00
R5416:Chadl UTSW 15 81693899 missense probably benign 0.31
R5566:Chadl UTSW 15 81695878 missense probably damaging 1.00
R6136:Chadl UTSW 15 81693554 missense probably benign 0.12
R8223:Chadl UTSW 15 81695134 missense possibly damaging 0.90
Posted On2015-04-16