Incidental Mutation 'IGL03392:Cnbd1'
ID421083
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 #IGL03392
Quality Score
Status
Chromosome4
Chromosomal Location18860454-19122526 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18862111 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 360 (S360P)
Ref Sequence ENSEMBL: ENSMUSP00000121576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137780]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133363
Predicted Effect probably damaging
Transcript: ENSMUST00000137780
AA Change: S360P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: S360P

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,562,011 D692E probably damaging Het
Adgrb3 T A 1: 25,504,448 R366S probably damaging Het
Afg3l2 C A 18: 67,414,069 probably benign Het
Cd5 T C 19: 10,726,289 probably benign Het
Col13a1 A T 10: 61,885,711 L305I possibly damaging Het
Commd7 A T 2: 153,622,764 probably benign Het
Cpsf6 A T 10: 117,367,979 Y23N probably damaging Het
Cry1 A G 10: 85,157,129 V75A possibly damaging Het
Cyp2c39 A G 19: 39,513,323 N107D probably benign Het
Dcaf11 T A 14: 55,561,421 V45E probably damaging Het
Dnm2 A G 9: 21,474,611 E310G probably damaging Het
Fat3 T A 9: 16,003,862 I1597L probably benign Het
Fcamr A G 1: 130,800,948 probably benign Het
Fer A G 17: 63,991,642 I529V probably damaging Het
Fhdc1 T C 3: 84,444,519 K1133R possibly damaging Het
Foxd3 A G 4: 99,657,195 K191E probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gbp8 A G 5: 105,016,544 probably null Het
Glb1 T G 9: 114,430,321 N106K probably damaging Het
Hpx A G 7: 105,592,402 I295T probably damaging Het
Ipo5 T A 14: 120,942,687 D844E probably damaging Het
Krt17 T C 11: 100,259,735 I159V possibly damaging Het
Lgi4 G A 7: 31,063,180 probably null Het
Lrrc49 T C 9: 60,666,280 probably benign Het
Ltn1 T C 16: 87,425,611 K178R probably damaging Het
Myh8 T A 11: 67,294,418 W832R probably damaging Het
Nbn A G 4: 15,962,362 N30S probably damaging Het
Olfr1245 A T 2: 89,575,249 V159D probably damaging Het
Olfr1312 T A 2: 112,042,976 N19Y probably benign Het
Olfr137 A G 17: 38,304,895 S189P probably benign Het
Olfr632 T C 7: 103,938,025 V215A probably benign Het
Pcdh15 A T 10: 74,624,272 I1314F probably damaging Het
Phf14 G A 6: 11,962,659 S435N probably damaging Het
Prss45 T A 9: 110,840,550 Y231* probably null Het
Pus7l T C 15: 94,536,568 D339G probably damaging Het
Sbk2 A G 7: 4,957,409 F254S probably damaging Het
Serpina1b T G 12: 103,732,070 K173N possibly damaging Het
Slc13a5 G A 11: 72,245,178 T469I probably damaging Het
Spon1 A G 7: 114,034,287 E655G probably damaging Het
Sv2b T C 7: 75,156,760 probably null Het
Treh A G 9: 44,685,931 D514G probably damaging Het
Umodl1 T A 17: 30,996,355 L1051Q probably damaging Het
Usp5 A G 6: 124,826,387 F4S probably damaging Het
Vmn1r16 A G 6: 57,322,894 S248P probably damaging 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
IGL01646:Cnbd1 APN 4 18895141 nonsense probably null
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
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
R7905:Cnbd1 UTSW 4 18907100 missense possibly damaging 0.81
R7988:Cnbd1 UTSW 4 18907100 missense possibly damaging 0.81
Posted On2016-08-02