Incidental Mutation 'IGL02305:Ccdc136'
ID 287543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc136
Ensembl Gene ENSMUSG00000029769
Gene Name coiled-coil domain containing 136
Synonyms 4921511K06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02305
Quality Score
Status
Chromosome 6
Chromosomal Location 29396296-29426954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29406173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 173 (D173G)
Ref Sequence ENSEMBL: ENSMUSP00000137673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096084] [ENSMUST00000115275] [ENSMUST00000145310] [ENSMUST00000154619] [ENSMUST00000180829] [ENSMUST00000181464] [ENSMUST00000202726]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000096084
AA Change: D265G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: D265G

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 damaging
Transcript: ENSMUST00000115275
AA Change: D265G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: D265G

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 probably damaging
Transcript: ENSMUST00000145310
AA Change: D265G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145331
Gene: ENSMUSG00000029769
AA Change: D265G

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 damaging
Transcript: ENSMUST00000154619
AA Change: D107G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: D107G

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 damaging
Transcript: ENSMUST00000180829
AA Change: D173G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: D173G

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 damaging
Transcript: ENSMUST00000181464
AA Change: D173G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: D173G

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,921,048 (GRCm39) T599I probably damaging Het
Ahi1 A G 10: 20,846,796 (GRCm39) T409A probably benign Het
Apol10b T A 15: 77,469,630 (GRCm39) R182S possibly damaging Het
Arhgap35 A G 7: 16,297,590 (GRCm39) F492L probably benign Het
Ccndbp1 T C 2: 120,841,933 (GRCm39) L67P probably damaging Het
Dync2h1 C T 9: 7,122,678 (GRCm39) V2093I probably benign Het
Eps15l1 T C 8: 73,140,853 (GRCm39) K213R probably null Het
Fat4 A T 3: 39,064,137 (GRCm39) N4698Y probably damaging Het
Frmpd1 G T 4: 45,249,209 (GRCm39) R133L probably damaging Het
Gdi2 T A 13: 3,606,428 (GRCm39) M158K probably damaging Het
Hoxc8 A G 15: 102,901,025 (GRCm39) Y156C probably damaging Het
Iho1 A T 9: 108,283,031 (GRCm39) M219K possibly damaging Het
Kcnh2 T C 5: 24,527,658 (GRCm39) D898G possibly damaging Het
Kng2 T C 16: 22,819,374 (GRCm39) probably benign Het
Men1 T C 19: 6,390,168 (GRCm39) L566P probably damaging Het
Mtmr2 T C 9: 13,706,551 (GRCm39) W153R probably damaging Het
Mug2 T G 6: 122,013,015 (GRCm39) L309R probably benign Het
Myo7a A G 7: 97,700,836 (GRCm39) *2165R probably null Het
Ogfod2 T C 5: 124,250,910 (GRCm39) probably null Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Or8g20 A T 9: 39,396,333 (GRCm39) I72N probably damaging Het
Pard6g T C 18: 80,160,985 (GRCm39) L366P probably damaging Het
Pdlim4 A T 11: 53,946,759 (GRCm39) L117H probably damaging Het
Pkd1l1 G A 11: 8,852,467 (GRCm39) A672V probably benign Het
Pomt2 A G 12: 87,164,703 (GRCm39) probably benign Het
Prpf4 T A 4: 62,333,633 (GRCm39) probably benign Het
Rad17 C T 13: 100,770,370 (GRCm39) probably null Het
Ryr3 T A 2: 112,475,622 (GRCm39) I4499F probably damaging Het
Sav1 A G 12: 70,033,550 (GRCm39) probably benign Het
Scube1 A T 15: 83,491,591 (GRCm39) F887I probably damaging Het
Slc5a6 T C 5: 31,195,179 (GRCm39) S473G probably benign Het
Taf1b T C 12: 24,594,270 (GRCm39) S268P possibly damaging Het
Tmem135 A T 7: 88,814,331 (GRCm39) probably null Het
Vmn2r104 A T 17: 20,263,118 (GRCm39) N114K probably benign Het
Ypel5 A T 17: 73,155,591 (GRCm39) Y53F probably benign Het
Zfp438 A G 18: 5,213,674 (GRCm39) V428A possibly damaging Het
Zzef1 T C 11: 72,757,423 (GRCm39) probably benign Het
Other mutations in Ccdc136
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Ccdc136 APN 6 29,420,257 (GRCm39) missense probably damaging 0.96
IGL01325:Ccdc136 APN 6 29,412,949 (GRCm39) missense probably benign 0.00
IGL01608:Ccdc136 APN 6 29,406,113 (GRCm39) missense possibly damaging 0.90
IGL03354:Ccdc136 APN 6 29,419,102 (GRCm39) missense probably damaging 1.00
dimensionless UTSW 6 29,412,449 (GRCm39) missense probably benign 0.03
punctate UTSW 6 29,410,204 (GRCm39) missense probably damaging 0.99
PIT4515001:Ccdc136 UTSW 6 29,417,225 (GRCm39) missense probably benign 0.42
R0436:Ccdc136 UTSW 6 29,414,933 (GRCm39) missense probably damaging 1.00
R0709:Ccdc136 UTSW 6 29,414,969 (GRCm39) missense possibly damaging 0.64
R1451:Ccdc136 UTSW 6 29,419,376 (GRCm39) missense probably benign 0.09
R1593:Ccdc136 UTSW 6 29,415,583 (GRCm39) missense probably damaging 1.00
R1966:Ccdc136 UTSW 6 29,418,091 (GRCm39) missense probably damaging 1.00
R2113:Ccdc136 UTSW 6 29,413,031 (GRCm39) missense possibly damaging 0.51
R3845:Ccdc136 UTSW 6 29,417,176 (GRCm39) missense probably benign 0.20
R4668:Ccdc136 UTSW 6 29,411,280 (GRCm39) missense probably damaging 0.99
R5037:Ccdc136 UTSW 6 29,417,122 (GRCm39) missense probably damaging 1.00
R5085:Ccdc136 UTSW 6 29,419,313 (GRCm39) missense probably damaging 1.00
R5314:Ccdc136 UTSW 6 29,417,497 (GRCm39) missense probably benign 0.07
R5340:Ccdc136 UTSW 6 29,411,859 (GRCm39) missense possibly damaging 0.84
R5702:Ccdc136 UTSW 6 29,412,981 (GRCm39) missense probably damaging 0.99
R6108:Ccdc136 UTSW 6 29,412,449 (GRCm39) missense probably benign 0.03
R6313:Ccdc136 UTSW 6 29,410,204 (GRCm39) missense probably damaging 0.99
R6640:Ccdc136 UTSW 6 29,412,959 (GRCm39) missense possibly damaging 0.95
R6765:Ccdc136 UTSW 6 29,405,940 (GRCm39) missense probably benign
R7910:Ccdc136 UTSW 6 29,420,033 (GRCm39) missense probably benign 0.08
R7914:Ccdc136 UTSW 6 29,419,306 (GRCm39) missense probably damaging 1.00
R8030:Ccdc136 UTSW 6 29,417,141 (GRCm39) missense probably benign 0.07
R8414:Ccdc136 UTSW 6 29,412,929 (GRCm39) missense probably damaging 1.00
R8925:Ccdc136 UTSW 6 29,406,109 (GRCm39) missense probably damaging 0.98
R8927:Ccdc136 UTSW 6 29,406,109 (GRCm39) missense probably damaging 0.98
R9147:Ccdc136 UTSW 6 29,418,070 (GRCm39) missense probably damaging 1.00
R9148:Ccdc136 UTSW 6 29,418,070 (GRCm39) missense probably damaging 1.00
R9255:Ccdc136 UTSW 6 29,409,237 (GRCm39) missense probably benign
R9279:Ccdc136 UTSW 6 29,421,982 (GRCm39) intron probably benign
R9364:Ccdc136 UTSW 6 29,405,960 (GRCm39) missense probably damaging 1.00
R9623:Ccdc136 UTSW 6 29,405,939 (GRCm39) missense probably benign 0.00
R9712:Ccdc136 UTSW 6 29,417,441 (GRCm39) missense probably benign
R9799:Ccdc136 UTSW 6 29,417,505 (GRCm39) missense probably damaging 1.00
X0025:Ccdc136 UTSW 6 29,409,242 (GRCm39) splice site probably null
Posted On 2015-04-16