Incidental Mutation 'IGL03150:Ccdc36'
ID411077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc36
Ensembl Gene ENSMUSG00000047220
Gene Namecoiled-coil domain containing 36
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL03150
Quality Score
Status
Chromosome9
Chromosomal Location108403611-108428484 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 108404956 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 511 (T511K)
Ref Sequence ENSEMBL: ENSMUSP00000075898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076592] [ENSMUST00000192995]
Predicted Effect probably damaging
Transcript: ENSMUST00000076592
AA Change: T511K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: T511K

DomainStartEndE-ValueType
Pfam:DUF4700 19 572 4.7e-274 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192995
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,948,066 S1387P probably damaging Het
Aadat C T 8: 60,543,562 S399L probably damaging Het
C530008M17Rik G A 5: 76,867,250 E57K probably damaging Het
Corin T C 5: 72,302,858 D886G probably damaging Het
Eif2ak3 A T 6: 70,892,436 K702N possibly damaging Het
Ercc6 G T 14: 32,558,574 M709I probably damaging Het
Foxa1 T A 12: 57,542,296 E379D probably benign Het
Fscb C T 12: 64,472,430 G754D unknown Het
Gzmb C T 14: 56,260,382 V134I probably benign Het
Muc5b A G 7: 141,865,509 T4010A possibly damaging Het
Necab3 A G 2: 154,554,742 Y55H probably damaging Het
Nova1 T C 12: 46,700,672 N274S possibly damaging Het
Nup54 C A 5: 92,428,164 G156V probably damaging Het
Obscn A T 11: 59,051,723 C4317S probably damaging Het
Papln T A 12: 83,782,984 W960R probably damaging Het
Pax4 C A 6: 28,444,339 G239W probably null Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ptprj A G 2: 90,460,611 S502P probably damaging Het
Slit3 A G 11: 35,508,257 R150G possibly damaging Het
Srgap2 A T 1: 131,310,600 V658E probably damaging Het
Taar7e A T 10: 24,037,630 D6V probably benign Het
Trim25 T C 11: 89,000,005 C173R probably damaging Het
Trmt1l T C 1: 151,453,892 S529P probably benign Het
Ubn2 C T 6: 38,463,714 P174S probably benign Het
Ubox5 A G 2: 130,600,140 V209A probably benign Het
Vmn2r72 A G 7: 85,751,176 F222L probably damaging Het
Xpot C T 10: 121,609,186 A374T probably benign Het
Zfp451 A G 1: 33,777,454 C472R probably damaging Het
Zfp777 A G 6: 48,044,125 W232R probably damaging Het
Other mutations in Ccdc36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01956:Ccdc36 APN 9 108417319 splice site probably benign
IGL02138:Ccdc36 APN 9 108406621 missense probably benign 0.00
IGL02305:Ccdc36 APN 9 108405832 missense possibly damaging 0.82
IGL02456:Ccdc36 APN 9 108406621 missense probably benign 0.00
IGL02936:Ccdc36 APN 9 108412503 missense possibly damaging 0.69
IGL03163:Ccdc36 APN 9 108404933 missense probably benign 0.00
IGL03280:Ccdc36 APN 9 108404900 missense possibly damaging 0.92
R0139:Ccdc36 UTSW 9 108412496 missense probably damaging 1.00
R0276:Ccdc36 UTSW 9 108428440 missense possibly damaging 0.84
R0744:Ccdc36 UTSW 9 108404801 missense probably benign
R0836:Ccdc36 UTSW 9 108404801 missense probably benign
R1792:Ccdc36 UTSW 9 108404912 missense possibly damaging 0.84
R1918:Ccdc36 UTSW 9 108412985 missense probably benign 0.16
R2284:Ccdc36 UTSW 9 108421473 missense probably damaging 1.00
R2401:Ccdc36 UTSW 9 108413006 missense possibly damaging 0.53
R4731:Ccdc36 UTSW 9 108405385 missense probably benign 0.00
R4819:Ccdc36 UTSW 9 108406678 missense probably benign 0.10
R4950:Ccdc36 UTSW 9 108421510 missense probably damaging 1.00
R4968:Ccdc36 UTSW 9 108412514 missense probably benign 0.11
R7131:Ccdc36 UTSW 9 108417420 missense probably benign 0.01
R7201:Ccdc36 UTSW 9 108404775 missense probably damaging 0.98
R7950:Ccdc36 UTSW 9 108405671 missense probably benign
Posted On2016-08-02