Incidental Mutation 'IGL01017:Ccdc169'
ID53490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc169
Ensembl Gene ENSMUSG00000048655
Gene Namecoiled-coil domain containing 169
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL01017
Quality Score
Status
Chromosome3
Chromosomal Location55137339-55172935 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55171318 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 200 (V200A)
Ref Sequence ENSEMBL: ENSMUSP00000054771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052904] [ENSMUST00000061099] [ENSMUST00000118963] [ENSMUST00000159904] [ENSMUST00000161120]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052904
AA Change: V118A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049698
Gene: ENSMUSG00000048655
AA Change: V118A

DomainStartEndE-ValueType
Pfam:DUF4600 1 100 2e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000061099
AA Change: V200A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054771
Gene: ENSMUSG00000048655
AA Change: V200A

DomainStartEndE-ValueType
Pfam:DUF4600 54 181 1.8e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118963
SMART Domains Protein: ENSMUSP00000112414
Gene: ENSMUSG00000048655

DomainStartEndE-ValueType
Pfam:DUF4600 53 182 1.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159904
SMART Domains Protein: ENSMUSP00000123900
Gene: ENSMUSG00000048655

DomainStartEndE-ValueType
Pfam:DUF4600 1 79 1.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161120
SMART Domains Protein: ENSMUSP00000125131
Gene: ENSMUSG00000048655

DomainStartEndE-ValueType
Pfam:DUF4600 1 79 1.1e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,459,359 A29T probably damaging Het
Ankrd11 T C 8: 122,894,728 K795R probably damaging Het
Atg3 T C 16: 45,183,811 probably null Het
Cdr2l C A 11: 115,392,738 Q141K probably damaging Het
Cts3 T A 13: 61,568,174 I93F probably damaging Het
Eif2ak2 A G 17: 78,863,858 L372S probably damaging Het
Elovl5 T C 9: 77,981,571 I240T possibly damaging Het
Farp1 C T 14: 121,272,774 A728V possibly damaging Het
Fbln1 A G 15: 85,244,189 D529G possibly damaging Het
Flnb G T 14: 7,917,390 probably benign Het
Gm14401 A T 2: 177,086,832 H237L probably damaging Het
Gm4951 T A 18: 60,245,436 D14E possibly damaging Het
Hivep3 T A 4: 120,099,246 H1586Q probably damaging Het
Igkv12-98 T A 6: 68,571,109 L74* probably null Het
Ktn1 T C 14: 47,708,878 S917P probably benign Het
Lama3 T C 18: 12,441,143 probably null Het
Lamb1 A G 12: 31,301,064 D723G possibly damaging Het
Lrrc39 A T 3: 116,570,851 R130S probably benign Het
Mcm3 A C 1: 20,804,815 probably null Het
Muc19 T G 15: 91,880,707 noncoding transcript Het
Necap2 A G 4: 141,067,568 F266S probably damaging Het
Nfil3 C T 13: 52,968,019 G283D probably damaging Het
Nlrp4e A T 7: 23,321,667 K526N possibly damaging Het
Olfr1178 T A 2: 88,391,901 V218E possibly damaging Het
Olfr53 A G 7: 140,652,476 T166A probably benign Het
Pelp1 G A 11: 70,396,894 R401W probably damaging Het
Phldb3 G T 7: 24,628,870 C613F probably damaging Het
Ppp1ca T C 19: 4,193,111 Y93H probably damaging Het
Ppp1r3b A G 8: 35,384,322 E105G probably benign Het
Prb1 G T 6: 132,207,231 Q480K unknown Het
Ryr1 A T 7: 29,082,543 I2007N probably damaging Het
Scgb1b27 A G 7: 34,021,803 T39A probably damaging Het
Serpinb3b T C 1: 107,154,457 D359G probably benign Het
Sgo2b G T 8: 63,926,523 R1092S probably benign Het
Sh3pxd2b C A 11: 32,403,993 S187* probably null Het
Slc11a1 T A 1: 74,379,796 L92H probably damaging Het
Smc3 T C 19: 53,629,327 V585A probably damaging Het
Sp6 A G 11: 97,022,603 probably benign Het
Spata16 A T 3: 26,840,722 I307F possibly damaging Het
Tfpi2 T A 6: 3,965,359 H33L probably benign Het
Tnxb T A 17: 34,693,808 D1642E probably damaging Het
Ttc1 T C 11: 43,730,493 N287S probably damaging Het
Ttc9 G A 12: 81,631,762 V120I possibly damaging Het
Umps A G 16: 33,966,902 V27A probably damaging Het
Usp50 C A 2: 126,709,414 M48I probably damaging Het
Vmn1r76 A T 7: 11,930,382 C267S possibly damaging Het
Wee1 A T 7: 110,125,848 D275V possibly damaging Het
Zmym6 C T 4: 127,088,359 P63L probably benign Het
Other mutations in Ccdc169
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01662:Ccdc169 APN 3 55163311 splice site probably null
IGL02223:Ccdc169 APN 3 55142300 missense probably benign
IGL02272:Ccdc169 APN 3 55150748 missense probably damaging 0.99
IGL02329:Ccdc169 APN 3 55171281 missense probably benign
R4603:Ccdc169 UTSW 3 55150805 missense probably benign 0.01
R5347:Ccdc169 UTSW 3 55142319 splice site probably benign
R5798:Ccdc169 UTSW 3 55140124 missense possibly damaging 0.94
R5951:Ccdc169 UTSW 3 55140141 missense probably damaging 0.99
R6562:Ccdc169 UTSW 3 55150814 missense probably damaging 0.98
R7599:Ccdc169 UTSW 3 55140109 missense probably damaging 0.99
X0011:Ccdc169 UTSW 3 55157082 missense probably damaging 1.00
Posted On2013-06-28