Incidental Mutation 'IGL03354:Ccdc136'
ID 419871
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 # IGL03354
Quality Score
Status
Chromosome 6
Chromosomal Location 29396296-29426954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29419102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 808 (I808N)
Ref Sequence ENSEMBL: ENSMUSP00000118132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096084] [ENSMUST00000115275] [ENSMUST00000145310] [ENSMUST00000154619] [ENSMUST00000181464] [ENSMUST00000202726] [ENSMUST00000180829]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000096084
AA Change: I966N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: I966N

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
SMART Domains Protein: ENSMUSP00000110930
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
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 damaging
Transcript: ENSMUST00000154619
AA Change: I808N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: I808N

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: ENSMUST00000181464
AA Change: I874N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: I874N

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
Predicted Effect probably benign
Transcript: ENSMUST00000180829
SMART Domains Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,645,041 (GRCm39) A309T possibly damaging Het
Abca15 C A 7: 119,993,711 (GRCm39) Y1310* probably null Het
Adad1 G T 3: 37,160,322 (GRCm39) C552F probably damaging Het
Adam22 A G 5: 8,208,890 (GRCm39) S180P possibly damaging Het
Anxa10 A T 8: 62,549,778 (GRCm39) D22E probably damaging Het
Astn1 T C 1: 158,516,174 (GRCm39) S1255P probably damaging Het
Bhlhe41 T C 6: 145,809,929 (GRCm39) T92A probably damaging Het
Bicc1 G A 10: 70,782,432 (GRCm39) P603S probably benign Het
Camk2d T C 3: 126,590,615 (GRCm39) probably null Het
Cd200r3 C T 16: 44,773,960 (GRCm39) A124V possibly damaging Het
Cfap70 T C 14: 20,482,050 (GRCm39) E310G probably damaging Het
Cyp2d12 A T 15: 82,443,162 (GRCm39) D357V probably damaging Het
Dnah7b G A 1: 46,124,849 (GRCm39) V173I probably damaging Het
Dnajb4 T A 3: 151,892,115 (GRCm39) E239D probably benign Het
Dzip1 G A 14: 119,149,981 (GRCm39) probably benign Het
Emp2 A G 16: 10,103,429 (GRCm39) I74T probably damaging Het
Ermn T G 2: 57,942,634 (GRCm39) E32A probably benign Het
F10 C A 8: 13,095,089 (GRCm39) T82N probably benign Het
Fam227a T C 15: 79,520,951 (GRCm39) D295G possibly damaging Het
Gm527 T A 12: 64,969,154 (GRCm39) F194I probably damaging Het
Gmcl1 G A 6: 86,703,140 (GRCm39) T98M probably damaging Het
Gucy2g T C 19: 55,221,512 (GRCm39) R330G possibly damaging Het
H1f4 C T 13: 23,806,060 (GRCm39) probably benign Het
Kif1a T C 1: 92,987,957 (GRCm39) H549R probably damaging Het
Klhl14 T A 18: 21,784,785 (GRCm39) D214V probably damaging Het
Lipo2 A G 19: 33,708,270 (GRCm39) F248S probably benign Het
Mctp2 C T 7: 71,810,992 (GRCm39) V661I probably benign Het
Myh15 A T 16: 48,992,373 (GRCm39) M1616L probably benign Het
Nlrp4b A T 7: 10,448,465 (GRCm39) I223F probably damaging Het
Or1j18 A T 2: 36,624,524 (GRCm39) S64C possibly damaging Het
Or1j18 G T 2: 36,624,525 (GRCm39) S64I possibly damaging Het
Or2ad1 T C 13: 21,326,654 (GRCm39) Y191C probably damaging Het
Or2ag2 A G 7: 106,485,307 (GRCm39) V239A probably benign Het
Or2b28 T C 13: 21,531,686 (GRCm39) V196A possibly damaging Het
Or4c3d A C 2: 89,881,911 (GRCm39) C252W probably damaging Het
Or5p80 T A 7: 108,229,735 (GRCm39) C179S possibly damaging Het
Or5w1b T C 2: 87,475,939 (GRCm39) N176S probably damaging Het
Pcsk4 T C 10: 80,161,893 (GRCm39) D116G probably damaging Het
Pibf1 A G 14: 99,388,174 (GRCm39) D440G probably benign Het
Plekho2 T C 9: 65,466,703 (GRCm39) E129G probably null Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rars1 A G 11: 35,715,302 (GRCm39) L248P probably damaging Het
Ruvbl1 C A 6: 88,456,197 (GRCm39) Y90* probably null Het
Schip1 A G 3: 68,402,298 (GRCm39) D125G possibly damaging Het
Skic3 T C 13: 76,330,941 (GRCm39) V1457A possibly damaging Het
Smarca2 T C 19: 26,597,303 (GRCm39) S62P probably benign Het
Sort1 T C 3: 108,256,022 (GRCm39) V656A probably benign Het
Tlr12 A G 4: 128,509,730 (GRCm39) L840P probably damaging Het
Trpm3 T A 19: 22,834,082 (GRCm39) I438N probably damaging Het
Wdr11 C A 7: 129,227,026 (GRCm39) F829L probably benign Het
Zdhhc11 A T 13: 74,127,264 (GRCm39) I214F possibly damaging 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
IGL02305:Ccdc136 APN 6 29,406,173 (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 2016-08-02