Incidental Mutation 'R5037:Ccdc136'
ID 389566
Institutional Source Beutler Lab
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 # R5037 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 29396296-29426954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29417122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 648 (S648C)
Ref Sequence ENSEMBL: ENSMUSP00000137747 (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: S740C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: S740C

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: S740C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: S740C

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: S582C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: S582C

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: S648C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: S648C

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: S648C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: S648C

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btaf1 T C 19: 36,980,931 (GRCm39) V1584A probably damaging Het
Ccna2 A G 3: 36,625,152 (GRCm39) probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cenpf T C 1: 189,416,043 (GRCm39) E94G probably damaging Het
Clic1 G A 17: 35,274,235 (GRCm39) V139I probably benign Het
Coasy A G 11: 100,975,648 (GRCm39) E327G probably damaging Het
Col6a5 C T 9: 105,805,337 (GRCm39) E1190K unknown Het
Cyp2c70 A G 19: 40,172,441 (GRCm39) V67A possibly damaging Het
Dglucy A G 12: 100,801,500 (GRCm39) S52G probably benign Het
Dync1h1 A G 12: 110,607,341 (GRCm39) N2644S probably benign Het
Eif4g2 A T 7: 110,676,239 (GRCm39) N347K probably benign Het
Epha10 T C 4: 124,809,178 (GRCm39) probably benign Het
Epm2aip1 T C 9: 111,101,218 (GRCm39) F64L probably benign Het
Eri2 G A 7: 119,384,897 (GRCm39) L535F probably benign Het
Garin5b T G 7: 4,761,575 (GRCm39) K379T possibly damaging Het
Gm17430 T C 18: 9,726,561 (GRCm39) E37G probably benign Het
Heatr5b T A 17: 79,131,939 (GRCm39) Q388L probably benign Het
Htr1f A G 16: 64,746,291 (GRCm39) W334R probably damaging Het
Icam4 A T 9: 20,940,937 (GRCm39) C717* probably null Het
Iqgap1 A C 7: 80,383,848 (GRCm39) L1072W probably damaging Het
Kbtbd11 G T 8: 15,077,886 (GRCm39) A162S probably benign Het
Kif13b T G 14: 64,996,038 (GRCm39) Y941* probably null Het
Kndc1 T C 7: 139,490,371 (GRCm39) V291A possibly damaging Het
Lrrn3 A T 12: 41,503,594 (GRCm39) I241N probably damaging Het
Macf1 A G 4: 123,349,312 (GRCm39) S2387P probably damaging Het
Msh5 A G 17: 35,251,369 (GRCm39) L451S possibly damaging Het
Mthfd1 T G 12: 76,340,914 (GRCm39) F258V probably damaging Het
Ncstn C T 1: 171,896,193 (GRCm39) R495H probably damaging Het
Or4k2 T G 14: 50,423,745 (GRCm39) T310P probably benign Het
Pkd1l3 T A 8: 110,392,268 (GRCm39) I1954N probably damaging Het
Ppox C A 1: 171,105,169 (GRCm39) V340L probably damaging Het
Prkag1 T C 15: 98,713,768 (GRCm39) T21A possibly damaging Het
Pygo1 C A 9: 72,852,199 (GRCm39) H129N probably damaging Het
Rad9a A T 19: 4,247,173 (GRCm39) C271S probably benign Het
Raph1 T C 1: 60,535,381 (GRCm39) probably null Het
Reln A G 5: 22,153,510 (GRCm39) F2265L probably damaging Het
Shc4 A G 2: 125,471,647 (GRCm39) I304T probably damaging Het
Slc35f3 T A 8: 127,116,011 (GRCm39) L313M probably damaging Het
Spata31g1 T A 4: 42,972,195 (GRCm39) H509Q probably benign Het
Spef1l A T 7: 139,558,587 (GRCm39) S3R possibly damaging Het
Sycp2l T A 13: 41,283,337 (GRCm39) M191K possibly damaging Het
Tmem132c C A 5: 127,630,199 (GRCm39) Q579K probably benign Het
Trbj2-5 A G 6: 41,520,394 (GRCm39) probably benign Het
Ttc38 A G 15: 85,728,741 (GRCm39) E231G probably benign Het
Utp20 A G 10: 88,611,192 (GRCm39) V1375A probably benign Het
Vcan T A 13: 89,852,096 (GRCm39) T955S probably damaging Het
Vmn1r89 T C 7: 12,953,314 (GRCm39) C17R possibly damaging Het
Wnk1 A G 6: 119,942,696 (GRCm39) probably benign Het
Zfp667 T G 7: 6,308,949 (GRCm39) I539S possibly damaging Het
Zfp738 T A 13: 67,818,320 (GRCm39) H557L probably 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTTGTGAAACAGAGGTAGGTG -3'
(R):5'- TGGAGCTCTCGTAACTCCTG -3'

Sequencing Primer
(F):5'- AAACAGAGGTAGGTGTGTGTGCTC -3'
(R):5'- AGCTCTCGTAACTCCTGTGGAAG -3'
Posted On 2016-06-06