Incidental Mutation 'IGL01646:Cnbd1'
ID102683
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnbd1
Ensembl Gene ENSMUSG00000073991
Gene Namecyclic nucleotide binding domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01646
Quality Score
Status
Chromosome4
Chromosomal Location18860454-19122526 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 18895141 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 200 (Y200*)
Ref Sequence ENSEMBL: ENSMUSP00000121576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137780]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133363
Predicted Effect probably null
Transcript: ENSMUST00000137780
AA Change: Y200*
SMART Domains Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: Y200*

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
Blast:cNMP 166 225 6e-6 BLAST
SCOP:d1cx4a1 296 430 3e-13 SMART
Blast:cNMP 318 429 2e-60 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik T A 18: 57,667,345 C171* probably null Het
Ambp C T 4: 63,148,740 V188I probably benign Het
Bbs9 G T 9: 22,670,925 E638* probably null Het
Bmp6 A G 13: 38,498,928 M465V probably damaging Het
Cemip T C 7: 83,983,232 E374G possibly damaging Het
Cox6b1 G T 7: 30,624,504 Y34* probably null Het
Cyp2d26 A C 15: 82,791,418 I303M probably benign Het
Diaph1 T A 18: 37,893,416 probably null Het
Dmp1 T C 5: 104,211,865 S136P probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Eea1 A G 10: 95,997,015 T241A probably damaging Het
Erap1 C A 13: 74,666,172 T25K probably damaging Het
Fras1 A G 5: 96,758,148 E3137G probably benign Het
Fryl C T 5: 73,022,501 probably null Het
Gldc T G 19: 30,100,765 D944A possibly damaging Het
Grm5 A G 7: 88,040,059 Y546C probably damaging Het
Igkv1-122 G A 6: 68,016,744 M1I probably null Het
Jag2 G A 12: 112,916,349 P380S possibly damaging Het
Kcnc2 T C 10: 112,272,406 probably null Het
Kmt2a T C 9: 44,825,484 probably benign Het
Lrrc55 A G 2: 85,191,989 V286A probably damaging Het
Mllt10 C A 2: 18,122,317 H82N probably damaging Het
Myh11 C A 16: 14,221,775 R837L probably damaging Het
Nsg1 C A 5: 38,155,691 D55Y probably damaging Het
Nup107 C A 10: 117,781,342 R221M probably damaging Het
Nup153 G T 13: 46,684,107 A1213D possibly damaging Het
Ovgp1 G A 3: 105,978,349 G174S probably damaging Het
Papss2 C T 19: 32,652,082 A357V probably benign Het
Pclo A G 5: 14,713,867 K4118R unknown Het
Pde2a T C 7: 101,507,711 I628T possibly damaging Het
Pla2r1 A G 2: 60,495,364 W521R probably damaging Het
Pld1 A T 3: 28,099,664 Q744L probably damaging Het
Pnpo T A 11: 96,938,949 E251V possibly damaging Het
Rdh10 C T 1: 16,108,022 H173Y possibly damaging Het
Sgpp2 A T 1: 78,416,896 I179F probably damaging Het
Slc11a1 C T 1: 74,384,740 P409L probably damaging Het
Slc35b4 T A 6: 34,158,429 N316I probably benign Het
Snrnp200 A G 2: 127,222,228 I712V probably benign Het
Spr T C 6: 85,134,240 D216G possibly damaging Het
Sri G A 5: 8,063,755 probably null Het
Tas2r124 T C 6: 132,755,369 S214P probably damaging Het
Tg T A 15: 66,678,087 S233T probably damaging Het
Tgfbr3 A T 5: 107,121,413 probably benign Het
Vmn2r45 A G 7: 8,483,338 F317S probably benign Het
Vmn2r99 C A 17: 19,393,658 probably benign Het
Zfp957 T C 14: 79,213,891 E156G probably benign Het
Other mutations in Cnbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Cnbd1 APN 4 18906988 splice site probably benign
IGL01101:Cnbd1 APN 4 18907098 missense probably benign 0.30
IGL01365:Cnbd1 APN 4 18860576 missense probably damaging 1.00
IGL02106:Cnbd1 APN 4 18894993 missense possibly damaging 0.55
IGL02218:Cnbd1 APN 4 18887739 missense probably benign 0.00
IGL02335:Cnbd1 APN 4 19055095 missense possibly damaging 0.87
IGL02380:Cnbd1 APN 4 18887748 critical splice acceptor site probably null
IGL02380:Cnbd1 APN 4 18887749 critical splice acceptor site probably null
IGL02404:Cnbd1 APN 4 18895047 missense possibly damaging 0.64
IGL03293:Cnbd1 APN 4 18860565 missense possibly damaging 0.65
IGL03301:Cnbd1 APN 4 19055039 missense probably benign 0.00
IGL03342:Cnbd1 APN 4 19098264 splice site probably benign
IGL03392:Cnbd1 APN 4 18862111 missense probably damaging 1.00
R0062:Cnbd1 UTSW 4 18860504 missense possibly damaging 0.65
R0062:Cnbd1 UTSW 4 18860504 missense possibly damaging 0.65
R0195:Cnbd1 UTSW 4 18906988 splice site probably benign
R0462:Cnbd1 UTSW 4 18895044 missense probably benign 0.01
R0909:Cnbd1 UTSW 4 19122444 missense probably benign
R1435:Cnbd1 UTSW 4 18907026 missense probably benign 0.00
R1995:Cnbd1 UTSW 4 19055112 missense possibly damaging 0.55
R2495:Cnbd1 UTSW 4 18860579 missense probably damaging 1.00
R3974:Cnbd1 UTSW 4 18887693 missense probably benign 0.00
R4083:Cnbd1 UTSW 4 18886042 missense possibly damaging 0.88
R4494:Cnbd1 UTSW 4 19098150 missense probably benign 0.34
R4558:Cnbd1 UTSW 4 19055095 missense possibly damaging 0.87
R4833:Cnbd1 UTSW 4 18862120 missense probably damaging 0.97
R5326:Cnbd1 UTSW 4 18860517 missense possibly damaging 0.67
R5542:Cnbd1 UTSW 4 18860517 missense possibly damaging 0.67
R5930:Cnbd1 UTSW 4 18886119 missense probably benign 0.14
R5958:Cnbd1 UTSW 4 18862056 missense probably benign 0.31
R6064:Cnbd1 UTSW 4 18895084 missense probably benign 0.14
R6250:Cnbd1 UTSW 4 19098255 missense probably benign 0.00
R6348:Cnbd1 UTSW 4 18860462 missense probably damaging 0.99
R7027:Cnbd1 UTSW 4 18862063 missense probably benign 0.01
Posted On2014-01-21