Incidental Mutation 'IGL01325:Ccdc136'
ID74215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc136
Ensembl Gene ENSMUSG00000029769
Gene Namecoiled-coil domain containing 136
Synonyms4921511K06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01325
Quality Score
Status
Chromosome6
Chromosomal Location29396309-29426994 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29412950 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 445 (F445L)
Ref Sequence ENSEMBL: ENSMUSP00000137673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096084] [ENSMUST00000115275] [ENSMUST00000145310] [ENSMUST00000154619] [ENSMUST00000180829] [ENSMUST00000181464] [ENSMUST00000202726]
Predicted Effect probably benign
Transcript: ENSMUST00000096084
AA Change: F537L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: F537L

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
low complexity region 65 83 N/A INTRINSIC
low complexity region 85 92 N/A INTRINSIC
coiled coil region 99 310 N/A INTRINSIC
coiled coil region 343 408 N/A INTRINSIC
internal_repeat_2 416 435 7.26e-6 PROSPERO
low complexity region 439 453 N/A INTRINSIC
coiled coil region 463 489 N/A INTRINSIC
coiled coil region 526 611 N/A INTRINSIC
low complexity region 645 658 N/A INTRINSIC
coiled coil region 730 779 N/A INTRINSIC
internal_repeat_1 791 810 8.87e-9 PROSPERO
internal_repeat_1 819 838 8.87e-9 PROSPERO
low complexity region 847 868 N/A INTRINSIC
internal_repeat_2 902 921 7.26e-6 PROSPERO
low complexity region 994 1011 N/A INTRINSIC
low complexity region 1023 1041 N/A INTRINSIC
coiled coil region 1066 1104 N/A INTRINSIC
low complexity region 1108 1142 N/A INTRINSIC
transmembrane domain 1154 1176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115275
AA Change: F537L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: F537L

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
low complexity region 65 83 N/A INTRINSIC
low complexity region 85 92 N/A INTRINSIC
coiled coil region 99 310 N/A INTRINSIC
coiled coil region 343 408 N/A INTRINSIC
internal_repeat_2 416 435 1.72e-5 PROSPERO
low complexity region 439 453 N/A INTRINSIC
coiled coil region 463 489 N/A INTRINSIC
coiled coil region 526 611 N/A INTRINSIC
low complexity region 645 658 N/A INTRINSIC
coiled coil region 730 779 N/A INTRINSIC
internal_repeat_1 791 810 2.93e-8 PROSPERO
internal_repeat_1 819 838 2.93e-8 PROSPERO
low complexity region 847 868 N/A INTRINSIC
internal_repeat_2 902 921 1.72e-5 PROSPERO
transmembrane domain 967 989 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143599
Predicted Effect probably benign
Transcript: ENSMUST00000145310
SMART Domains Protein: ENSMUSP00000145331
Gene: ENSMUSG00000029769

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
low complexity region 65 83 N/A INTRINSIC
low complexity region 85 92 N/A INTRINSIC
coiled coil region 99 310 N/A INTRINSIC
coiled coil region 343 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154619
AA Change: F379L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: F379L

DomainStartEndE-ValueType
coiled coil region 1 152 N/A INTRINSIC
coiled coil region 185 250 N/A INTRINSIC
internal_repeat_2 258 277 4.68e-6 PROSPERO
low complexity region 281 295 N/A INTRINSIC
coiled coil region 305 331 N/A INTRINSIC
coiled coil region 368 453 N/A INTRINSIC
low complexity region 487 500 N/A INTRINSIC
coiled coil region 572 621 N/A INTRINSIC
internal_repeat_1 633 652 5.47e-9 PROSPERO
internal_repeat_1 661 680 5.47e-9 PROSPERO
low complexity region 689 710 N/A INTRINSIC
internal_repeat_2 744 763 4.68e-6 PROSPERO
low complexity region 836 853 N/A INTRINSIC
low complexity region 865 883 N/A INTRINSIC
coiled coil region 908 946 N/A INTRINSIC
low complexity region 950 984 N/A INTRINSIC
transmembrane domain 996 1018 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180829
AA Change: F445L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: F445L

DomainStartEndE-ValueType
coiled coil region 7 218 N/A INTRINSIC
coiled coil region 251 316 N/A INTRINSIC
internal_repeat_2 324 343 1.21e-5 PROSPERO
low complexity region 347 361 N/A INTRINSIC
coiled coil region 371 397 N/A INTRINSIC
coiled coil region 434 519 N/A INTRINSIC
low complexity region 553 566 N/A INTRINSIC
coiled coil region 638 687 N/A INTRINSIC
internal_repeat_1 699 718 1.98e-8 PROSPERO
internal_repeat_1 727 746 1.98e-8 PROSPERO
low complexity region 755 776 N/A INTRINSIC
internal_repeat_2 810 829 1.21e-5 PROSPERO
transmembrane domain 875 897 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181464
AA Change: F445L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: F445L

DomainStartEndE-ValueType
coiled coil region 7 218 N/A INTRINSIC
coiled coil region 251 316 N/A INTRINSIC
internal_repeat_2 324 343 7.68e-6 PROSPERO
low complexity region 347 361 N/A INTRINSIC
coiled coil region 371 397 N/A INTRINSIC
coiled coil region 434 519 N/A INTRINSIC
low complexity region 553 566 N/A INTRINSIC
coiled coil region 638 687 N/A INTRINSIC
internal_repeat_1 699 718 1.04e-8 PROSPERO
internal_repeat_1 727 746 1.04e-8 PROSPERO
low complexity region 755 776 N/A INTRINSIC
internal_repeat_2 810 829 7.68e-6 PROSPERO
low complexity region 902 919 N/A INTRINSIC
low complexity region 931 949 N/A INTRINSIC
transmembrane domain 969 991 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202726
SMART Domains Protein: ENSMUSP00000144577
Gene: ENSMUSG00000029769

DomainStartEndE-ValueType
coiled coil region 25 90 N/A INTRINSIC
transmembrane domain 94 116 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 60,853,533 T127A probably damaging Het
Acrv1 T A 9: 36,698,514 M227K probably benign Het
Adam22 T C 5: 8,127,333 N592S probably benign Het
Adamts15 T A 9: 30,921,688 I184F possibly damaging Het
Adcy1 T C 11: 7,064,102 V168A possibly damaging Het
Arl6ip5 T C 6: 97,232,540 F179L probably benign Het
Asxl2 G T 12: 3,427,172 R6L probably damaging Het
Btaf1 T A 19: 37,004,649 probably benign Het
Cpne3 T C 4: 19,535,229 S268G probably benign Het
Crtc3 C T 7: 80,677,368 R70Q probably damaging Het
Fam169a C A 13: 97,122,699 A421E probably benign Het
Fhod1 A T 8: 105,331,649 M825K probably benign Het
Gjb2 T C 14: 57,100,221 T177A probably benign Het
Gm6576 A G 15: 27,025,884 noncoding transcript Het
Herpud2 A G 9: 25,113,911 V175A probably benign Het
Hmgxb3 T C 18: 61,134,006 D1052G probably damaging Het
Itpr1 T A 6: 108,381,208 F578L probably benign Het
Kdm7a T G 6: 39,158,309 probably benign Het
Krt76 A T 15: 101,884,888 S572T unknown Het
Lrrcc1 T C 3: 14,536,541 probably null Het
March9 A C 10: 127,057,590 V183G probably damaging Het
Mkl2 T C 16: 13,401,224 V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 D123E probably benign Het
Nhlh2 T G 3: 102,013,026 Y125D probably damaging Het
Nol4l A G 2: 153,436,351 probably benign Het
Npas1 C T 7: 16,463,322 G206D probably benign Het
Olfr651 T C 7: 104,553,689 F257L probably damaging Het
Olfr994 C A 2: 85,430,295 C178F possibly damaging Het
Pcdhb4 T A 18: 37,309,623 V662E probably damaging Het
Plxna3 G A X: 74,335,794 G758S probably damaging Het
Prdm15 T A 16: 97,806,517 N709Y probably damaging Het
Pygo2 C T 3: 89,432,446 probably benign Het
Ranbp2 T A 10: 58,476,298 S947T probably damaging Het
Rasgrp1 T A 2: 117,298,529 H203L probably damaging Het
Rbbp6 G A 7: 122,988,618 G270R probably damaging Het
Rcl1 A G 19: 29,121,262 probably null Het
Rpl23a-ps1 T C 1: 45,981,633 noncoding transcript Het
Serpinb7 T G 1: 107,435,380 H91Q probably damaging Het
Shd C T 17: 55,972,839 P111S possibly damaging Het
Slc35e1 G T 8: 72,483,758 probably benign Het
Srgap3 C T 6: 112,775,686 R279H probably damaging Het
Sstr4 G A 2: 148,395,552 E28K probably benign Het
Stip1 T C 19: 7,021,096 probably benign Het
Syne2 A G 12: 75,926,514 E1097G probably benign Het
Tbcd T A 11: 121,540,993 V489E probably damaging Het
Tnks2 T A 19: 36,871,633 S516R probably benign Het
Trmt44 T A 5: 35,568,803 R343S possibly damaging Het
Trps1 A G 15: 50,846,814 S47P probably benign Het
Ubr3 A C 2: 69,917,097 K235Q possibly damaging Het
Uckl1 G A 2: 181,574,961 Q48* probably null Het
Vat1 T C 11: 101,465,715 D140G probably benign Het
Vmn2r80 A G 10: 79,194,247 T636A possibly damaging Het
Zfp423 A T 8: 87,781,611 probably null Het
Zfp667 C A 7: 6,290,546 T15N probably damaging Het
Other mutations in Ccdc136
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Ccdc136 APN 6 29420258 missense probably damaging 0.96
IGL01608:Ccdc136 APN 6 29406114 missense possibly damaging 0.90
IGL02305:Ccdc136 APN 6 29406174 missense probably damaging 1.00
IGL03354:Ccdc136 APN 6 29419103 missense probably damaging 1.00
dimensionless UTSW 6 29412450 missense probably benign 0.03
punctate UTSW 6 29410205 missense probably damaging 0.99
PIT4515001:Ccdc136 UTSW 6 29417226 missense probably benign 0.42
R0436:Ccdc136 UTSW 6 29414934 missense probably damaging 1.00
R0709:Ccdc136 UTSW 6 29414970 missense possibly damaging 0.64
R1451:Ccdc136 UTSW 6 29419377 missense probably benign 0.09
R1593:Ccdc136 UTSW 6 29415584 missense probably damaging 1.00
R1966:Ccdc136 UTSW 6 29418092 missense probably damaging 1.00
R2113:Ccdc136 UTSW 6 29413032 missense possibly damaging 0.51
R3845:Ccdc136 UTSW 6 29417177 missense probably benign 0.20
R4668:Ccdc136 UTSW 6 29411281 missense probably damaging 0.99
R5037:Ccdc136 UTSW 6 29417123 missense probably damaging 1.00
R5085:Ccdc136 UTSW 6 29419314 missense probably damaging 1.00
R5314:Ccdc136 UTSW 6 29417498 missense probably benign 0.07
R5340:Ccdc136 UTSW 6 29411860 missense possibly damaging 0.84
R5702:Ccdc136 UTSW 6 29412982 missense probably damaging 0.99
R6108:Ccdc136 UTSW 6 29412450 missense probably benign 0.03
R6313:Ccdc136 UTSW 6 29410205 missense probably damaging 0.99
R6640:Ccdc136 UTSW 6 29412960 missense possibly damaging 0.95
R6765:Ccdc136 UTSW 6 29405941 missense probably benign
R7910:Ccdc136 UTSW 6 29420034 missense probably benign 0.08
R7914:Ccdc136 UTSW 6 29419307 missense probably damaging 1.00
R8030:Ccdc136 UTSW 6 29417142 missense probably benign 0.07
R8414:Ccdc136 UTSW 6 29412930 missense probably damaging 1.00
R8925:Ccdc136 UTSW 6 29406110 missense probably damaging 0.98
R8927:Ccdc136 UTSW 6 29406110 missense probably damaging 0.98
X0025:Ccdc136 UTSW 6 29409243 splice site probably null
Posted On2013-10-07