Incidental Mutation 'R1893:Ccdc102a'
ID211711
Institutional Source Beutler Lab
Gene Symbol Ccdc102a
Ensembl Gene ENSMUSG00000063605
Gene Namecoiled-coil domain containing 102A
SynonymsLOC234582
MMRRC Submission 039913-MU
Accession Numbers

Genbank: NM_001033533; MGI: 2686927

Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #R1893 (G1)
Quality Score147
Status Validated
Chromosome8
Chromosomal Location94902869-94918098 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 94913543 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 41 (T41M)
Ref Sequence ENSEMBL: ENSMUSP00000077107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077955] [ENSMUST00000162020]
Predicted Effect probably damaging
Transcript: ENSMUST00000077955
AA Change: T41M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077107
Gene: ENSMUSG00000063605
AA Change: T41M

DomainStartEndE-ValueType
low complexity region 36 67 N/A INTRINSIC
low complexity region 71 87 N/A INTRINSIC
coiled coil region 101 160 N/A INTRINSIC
Pfam:Myosin_tail_1 311 508 8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162020
Meta Mutation Damage Score 0.0799 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 99% (99/100)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,267,809 Y674H possibly damaging Het
Aars2 G A 17: 45,514,799 R347Q probably benign Het
Abca15 A T 7: 120,340,553 M293L possibly damaging Het
Abcb7 A T X: 104,342,536 H97Q probably damaging Het
Aldh1l2 G T 10: 83,492,536 N772K probably damaging Het
Ascc2 T A 11: 4,672,305 L457Q probably benign Het
Aspm T A 1: 139,479,867 I2164N probably damaging Het
Cabs1 A G 5: 87,980,035 T182A probably benign Het
Carmil1 T C 13: 24,024,463 E833G possibly damaging Het
Clec2h T C 6: 128,670,832 V48A probably benign Het
Cpb2 G A 14: 75,255,963 V27I probably benign Het
Cr2 T C 1: 195,155,187 H1201R probably benign Het
Cyp2d9 T C 15: 82,452,606 V52A probably damaging Het
Cyp4a12a C A 4: 115,326,667 N223K probably benign Het
Cyp7b1 G A 3: 18,096,567 S336L possibly damaging Het
D230025D16Rik G T 8: 105,246,501 V248F probably damaging Het
Dnah10 T C 5: 124,754,317 V803A probably benign Het
Dnah17 T A 11: 118,066,968 T2745S probably benign Het
E330021D16Rik A G 6: 136,401,827 S2P possibly damaging Het
Ep300 T A 15: 81,631,646 probably benign Het
Epha3 A G 16: 63,568,399 S829P probably damaging Het
Fads3 C A 19: 10,056,504 H418N probably benign Het
Fat1 T C 8: 45,023,856 S1980P probably damaging Het
Fgf20 T C 8: 40,279,803 E198G possibly damaging Het
Fgl2 G A 5: 21,375,671 R337H probably benign Het
Gbp2 G T 3: 142,630,172 probably benign Het
Gja10 G A 4: 32,601,541 S281L probably benign Het
Gm5422 G A 10: 31,249,613 noncoding transcript Het
Gmpr T A 13: 45,520,947 D129E possibly damaging Het
Gtf3c4 C T 2: 28,834,362 V453I possibly damaging Het
Heatr6 T C 11: 83,757,314 V111A probably benign Het
Hipk3 G A 2: 104,433,256 R905W probably damaging Het
Hpn T A 7: 31,099,348 D103V probably damaging Het
Ipcef1 G A 10: 6,900,680 R304W probably damaging Het
Iqcb1 A G 16: 36,831,883 D52G probably damaging Het
Klhdc7b C T 15: 89,387,695 probably null Het
Klhl1 A T 14: 96,240,206 probably null Het
Lrrn1 A T 6: 107,568,122 I294F possibly damaging Het
Map3k1 A T 13: 111,768,033 F406I possibly damaging Het
Map4k4 T A 1: 40,001,557 V579E probably benign Het
Mapre2 A G 18: 23,853,717 K62R probably damaging Het
Mdga1 A T 17: 29,849,226 Y305N probably damaging Het
Mgl2 T A 11: 70,134,167 probably null Het
Mnx1 C T 5: 29,477,830 G149D unknown Het
Mtbp T A 15: 55,557,668 S17T probably benign Het
Neu3 T C 7: 99,823,420 T37A possibly damaging Het
Nr1i3 T C 1: 171,217,223 probably null Het
Odf3l1 A G 9: 56,849,214 Y173H probably benign Het
Olfr118 A T 17: 37,672,856 K278* probably null Het
Olfr466 T A 13: 65,152,992 M256K possibly damaging Het
Olfr522 T C 7: 140,162,821 N43S probably damaging Het
Olfr981 A T 9: 40,022,974 I194F possibly damaging Het
Osr2 A G 15: 35,300,462 T55A possibly damaging Het
Palld A G 8: 61,516,621 V981A probably damaging Het
Pbx1 A T 1: 168,203,410 M213K possibly damaging Het
Pcdhb12 C A 18: 37,437,083 H427Q probably benign Het
Perm1 C T 4: 156,217,883 R295C probably benign Het
Polm T C 11: 5,835,574 T162A possibly damaging Het
Prox1 A G 1: 190,160,518 probably benign Het
Ptpn7 A T 1: 135,134,903 T127S probably benign Het
Pxk C T 14: 8,151,507 R441* probably null Het
Rab21 T C 10: 115,290,900 T181A probably benign Het
Rab38 A T 7: 88,490,716 T198S probably benign Het
Rnase4 C G 14: 51,104,938 Q40E possibly damaging Het
Rnf213 T A 11: 119,416,448 W645R probably damaging Het
Rnf8 A G 17: 29,621,550 I51M probably damaging Het
Sbpl T A 17: 23,953,267 D226V unknown Het
Sdf4 T G 4: 156,000,748 I180S probably benign Het
Simc1 A G 13: 54,539,715 K99R probably damaging Het
Slc2a4 T C 11: 69,946,572 Q49R probably damaging Het
Slco1a4 T C 6: 141,834,616 probably null Het
Slco5a1 C A 1: 12,894,472 C527F probably damaging Het
Sox6 T A 7: 115,544,568 N405I probably benign Het
Sphkap G A 1: 83,278,966 P354L probably benign Het
Spi1 A G 2: 91,114,357 D149G probably benign Het
Sptan1 T A 2: 30,020,460 D1812E probably damaging Het
Sub1 A T 15: 11,991,044 V37E possibly damaging Het
Sult2a6 T C 7: 14,225,889 T240A probably benign Het
Tacc2 A G 7: 130,625,325 S1247G probably benign Het
Taf4 T C 2: 179,933,030 D594G probably damaging Het
Tap1 T G 17: 34,194,941 D643E probably damaging Het
Ticam1 T C 17: 56,271,894 N67S probably benign Het
Tlr6 A G 5: 64,953,213 F784L probably damaging Het
Tmprss15 A G 16: 79,071,418 V202A probably benign Het
Trp53bp2 T C 1: 182,431,628 V82A probably benign Het
Ube2o C T 11: 116,548,835 V170I possibly damaging Het
Vmn1r177 G A 7: 23,866,148 T101I probably benign Het
Vmn2r68 A T 7: 85,234,659 Y79* probably null Het
Wdr35 A C 12: 8,985,994 Y255S probably benign Het
Zfp507 A T 7: 35,802,627 probably benign Het
Zfp688 G A 7: 127,419,237 R239C probably damaging Het
Zfp74 T A 7: 29,936,045 probably null Het
Zfp932 A G 5: 110,009,203 N223D possibly damaging Het
Other mutations in Ccdc102a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Ccdc102a APN 8 94911638 unclassified probably null
IGL01921:Ccdc102a APN 8 94913391 missense probably damaging 1.00
IGL02961:Ccdc102a APN 8 94903350 missense possibly damaging 0.95
R0413:Ccdc102a UTSW 8 94903286 missense probably benign 0.23
R0423:Ccdc102a UTSW 8 94905926 splice site probably benign
R0437:Ccdc102a UTSW 8 94913426 missense probably damaging 1.00
R1468:Ccdc102a UTSW 8 94906086 missense probably benign 0.06
R1468:Ccdc102a UTSW 8 94906086 missense probably benign 0.06
R1540:Ccdc102a UTSW 8 94907713 critical splice donor site probably null
R2317:Ccdc102a UTSW 8 94908329 missense probably null 1.00
R4280:Ccdc102a UTSW 8 94907816 nonsense probably null
R6115:Ccdc102a UTSW 8 94903371 missense probably benign
R6331:Ccdc102a UTSW 8 94911516 missense probably benign
R6650:Ccdc102a UTSW 8 94913264 missense probably benign 0.23
R7019:Ccdc102a UTSW 8 94909803 missense probably benign 0.42
R7302:Ccdc102a UTSW 8 94913438 missense probably damaging 1.00
R7402:Ccdc102a UTSW 8 94903353 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACCACCAGCGCATTGTTTTC -3'
(R):5'- TATCCTAGAGAGCAGTGGATCGAG -3'

Sequencing Primer
(F):5'- CTCCATCTGCAAGGCTCG -3'
(R):5'- ACGCAGTGAGATCATGTTAGATC -3'
Posted On2014-06-30