Incidental Mutation 'IGL01143:Ccdc113'
ID51831
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc113
Ensembl Gene ENSMUSG00000036598
Gene Namecoiled-coil domain containing 113
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01143
Quality Score
Status
Chromosome8
Chromosomal Location95534085-95558890 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95534260 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 30 (V30A)
Ref Sequence ENSEMBL: ENSMUSP00000049497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041569]
Predicted Effect probably damaging
Transcript: ENSMUST00000041569
AA Change: V30A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049497
Gene: ENSMUSG00000036598
AA Change: V30A

DomainStartEndE-ValueType
coiled coil region 95 139 N/A INTRINSIC
Pfam:DUF4201 178 354 6.2e-52 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,500,229 probably null Het
Adgrv1 A C 13: 81,419,351 D5234E probably benign Het
Bmp7 G T 2: 172,879,482 H267N probably benign Het
Btbd11 A T 10: 85,654,471 probably benign Het
Ccdc185 A T 1: 182,747,852 L424Q probably damaging Het
Cep192 T A 18: 67,804,375 D58E probably damaging Het
Ces1f C T 8: 93,271,830 probably null Het
Chaf1a T A 17: 56,063,336 D600E possibly damaging Het
Cndp2 A G 18: 84,677,317 probably null Het
Dnah11 T A 12: 118,012,740 D2727V probably damaging Het
Dync1li2 T C 8: 104,429,453 D252G probably damaging Het
Ephx2 C T 14: 66,089,522 R408Q probably damaging Het
Fat1 C A 8: 45,035,532 T3427K possibly damaging Het
Gal3st4 A G 5: 138,271,402 M1T probably null Het
Gm5828 T C 1: 16,769,948 noncoding transcript Het
Gm7694 C T 1: 170,302,825 M1I probably null Het
Gpatch1 A G 7: 35,301,572 probably benign Het
Grik1 G T 16: 87,957,600 probably null Het
Gtf2ird2 A G 5: 134,196,553 T161A possibly damaging Het
Hk2 T C 6: 82,729,552 I790V possibly damaging Het
Ints9 G A 14: 65,037,421 V609I probably benign Het
Kcnq4 T G 4: 120,698,623 D585A probably damaging Het
Large2 T C 2: 92,366,339 Y464C probably damaging Het
Lpar6 G A 14: 73,238,637 D13N probably damaging Het
Morn1 T C 4: 155,092,304 Y132H probably damaging Het
Nphp1 C T 2: 127,780,136 V24I probably benign Het
Olfr1141 T C 2: 87,753,934 N20D probably benign Het
Olfr1457 A T 19: 13,095,112 F179I probably damaging Het
Olfr905 G T 9: 38,473,042 M98I possibly damaging Het
Pcdhb13 T C 18: 37,442,637 W23R probably benign Het
Plekhg3 T C 12: 76,564,982 probably null Het
Slx4 T C 16: 3,990,888 K396R probably benign Het
Snx13 A G 12: 35,132,160 D736G probably damaging Het
Spag17 A G 3: 99,939,298 D46G probably benign Het
Spata31 T G 13: 64,920,816 Y259* probably null Het
Synj1 T C 16: 90,951,976 E1064G probably damaging Het
Tom1 A G 8: 75,058,457 T81A probably benign Het
Ttc23l A G 15: 10,530,689 I279T probably damaging Het
Ttc39a T C 4: 109,442,813 probably null Het
Vmn2r108 C A 17: 20,462,465 A826S possibly damaging Het
Zyg11b A T 4: 108,244,994 V510E possibly damaging Het
Other mutations in Ccdc113
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Ccdc113 APN 8 95538257 splice site probably benign
IGL01538:Ccdc113 APN 8 95551238 missense probably benign 0.00
IGL01895:Ccdc113 APN 8 95536458 splice site probably benign
R1219:Ccdc113 UTSW 8 95538267 splice site probably benign
R1891:Ccdc113 UTSW 8 95540916 missense probably damaging 0.99
R1960:Ccdc113 UTSW 8 95540831 missense probably benign 0.00
R1961:Ccdc113 UTSW 8 95540831 missense probably benign 0.00
R1972:Ccdc113 UTSW 8 95538246 missense probably benign 0.06
R2069:Ccdc113 UTSW 8 95557296 missense probably benign 0.05
R3807:Ccdc113 UTSW 8 95542653 missense probably damaging 1.00
R4326:Ccdc113 UTSW 8 95557268 missense probably benign
R5214:Ccdc113 UTSW 8 95545973 missense possibly damaging 0.91
R5290:Ccdc113 UTSW 8 95540796 splice site probably null
R6394:Ccdc113 UTSW 8 95557192 missense probably benign 0.26
R6615:Ccdc113 UTSW 8 95545992 missense probably benign 0.03
R7088:Ccdc113 UTSW 8 95538105 missense probably benign 0.03
R7751:Ccdc113 UTSW 8 95538201 missense possibly damaging 0.53
R8139:Ccdc113 UTSW 8 95558738 missense possibly damaging 0.89
RF016:Ccdc113 UTSW 8 95538105 missense probably benign 0.03
Z1176:Ccdc113 UTSW 8 95538219 missense probably damaging 0.96
Posted On2013-06-21