Incidental Mutation 'R6217:Ccdc146'
ID 503773
Institutional Source Beutler Lab
Gene Symbol Ccdc146
Ensembl Gene ENSMUSG00000064280
Gene Name coiled-coil domain containing 146
Synonyms 4930528G09Rik
MMRRC Submission 044350-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6217 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 21497959-21629675 bp(-) (GRCm39)
Type of Mutation splice site (84 bp from exon)
DNA Base Change (assembly) A to T at 21522900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000115245] [ENSMUST00000198930]
AlphaFold E9Q9F7
Predicted Effect probably null
Transcript: ENSMUST00000030552
SMART Domains Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 120 130 N/A INTRINSIC
coiled coil region 194 320 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115245
SMART Domains Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 120 130 N/A INTRINSIC
coiled coil region 194 320 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
coiled coil region 438 477 N/A INTRINSIC
coiled coil region 549 595 N/A INTRINSIC
coiled coil region 617 663 N/A INTRINSIC
coiled coil region 690 720 N/A INTRINSIC
coiled coil region 770 793 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132473
Predicted Effect probably benign
Transcript: ENSMUST00000198930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199553
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
Adamts20 T C 15: 94,236,596 (GRCm39) D808G probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arsk T A 13: 76,239,935 (GRCm39) Q46L unknown Het
Asnsd1 A G 1: 53,387,187 (GRCm39) F147L probably benign Het
Atp5f1a T A 18: 77,869,056 (GRCm39) S427T probably benign Het
Atp6v1b2 A C 8: 69,562,530 (GRCm39) probably null Het
AU021092 T A 16: 5,030,050 (GRCm39) T322S possibly damaging Het
Bcl7c A T 7: 127,307,698 (GRCm39) M1K probably null Het
Cacna1i T C 15: 80,273,333 (GRCm39) V1673A probably damaging Het
Cdc7 A G 5: 107,120,660 (GRCm39) D122G probably damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Chd3 T A 11: 69,236,361 (GRCm39) Q1950L probably damaging Het
Cutc T C 19: 43,748,436 (GRCm39) L111S probably damaging Het
Cyp2j6 A G 4: 96,406,398 (GRCm39) F458L probably damaging Het
Ddhd1 T C 14: 45,856,971 (GRCm39) probably null Het
Dstyk T C 1: 132,387,677 (GRCm39) S804P probably damaging Het
Ech1 A G 7: 28,531,261 (GRCm39) D283G possibly damaging Het
Exosc10 A G 4: 148,666,768 (GRCm39) probably null Het
Fancg A C 4: 43,010,084 (GRCm39) V5G probably benign Het
Fbxo11 A G 17: 88,316,332 (GRCm39) V394A probably benign Het
Fcmr C T 1: 130,806,060 (GRCm39) R339W probably damaging Het
Fhip2b T C 14: 70,829,198 (GRCm39) probably null Het
Fsip2 T A 2: 82,818,762 (GRCm39) L4832M possibly damaging Het
Gab1 A G 8: 81,518,237 (GRCm39) V125A possibly damaging Het
Gabrr1 A T 4: 33,149,026 (GRCm39) probably null Het
Gon4l T C 3: 88,799,968 (GRCm39) V871A possibly damaging Het
Hspg2 A G 4: 137,267,559 (GRCm39) T2056A probably damaging Het
Lrrc3 T A 10: 77,736,843 (GRCm39) T198S probably benign Het
Lsamp A T 16: 41,954,675 (GRCm39) E174V possibly damaging Het
Ltbr C T 6: 125,284,417 (GRCm39) V342M probably damaging Het
Muc16 A T 9: 18,566,742 (GRCm39) S1926T unknown Het
Ntn1 C A 11: 68,104,158 (GRCm39) V497F possibly damaging Het
Or2ag18 A T 7: 106,405,279 (GRCm39) L130Q probably damaging Het
Or5k17 T C 16: 58,746,877 (GRCm39) D19G probably benign Het
Or8g22 A T 9: 38,958,039 (GRCm39) *270R probably null Het
Osmr T C 15: 6,853,047 (GRCm39) Y615C probably damaging Het
Pcdhgb2 T C 18: 37,823,054 (GRCm39) V15A possibly damaging Het
Pkd2l2 A G 18: 34,547,733 (GRCm39) N162S probably benign Het
Ppp1r12a G A 10: 108,076,045 (GRCm39) probably null Het
Prss59 G A 6: 40,903,019 (GRCm39) P118S possibly damaging Het
Prtg C T 9: 72,812,076 (GRCm39) P899S probably damaging Het
Ptprn A T 1: 75,224,810 (GRCm39) S912R probably damaging Het
Rex2 A G 4: 147,141,931 (GRCm39) T140A possibly damaging Het
Ryr2 T G 13: 11,848,964 (GRCm39) D339A probably damaging Het
Sf3b1 C T 1: 55,046,677 (GRCm39) R289H probably damaging Het
Slc17a9 A G 2: 180,379,455 (GRCm39) D309G probably benign Het
Slc4a10 A G 2: 62,134,295 (GRCm39) R1004G probably benign Het
Sprr2f A T 3: 92,273,366 (GRCm39) Q55L unknown Het
Syne1 C T 10: 5,243,761 (GRCm39) G2801D probably benign Het
Tenm3 A T 8: 48,746,700 (GRCm39) V1026D probably damaging Het
Ticam1 A T 17: 56,577,730 (GRCm39) I455N probably damaging Het
Tmem161b A G 13: 84,399,363 (GRCm39) I6M possibly damaging Het
Ubn1 A G 16: 4,895,096 (GRCm39) E714G probably damaging Het
Ush2a T G 1: 188,475,651 (GRCm39) probably null Het
Usp19 G A 9: 108,377,343 (GRCm39) V874M probably damaging Het
Vmn2r106 T C 17: 20,488,501 (GRCm39) T633A probably benign Het
Vmn2r75 A T 7: 85,815,375 (GRCm39) probably benign Het
Zfyve27 T C 19: 42,178,016 (GRCm39) V386A probably damaging Het
Zscan20 A T 4: 128,498,327 (GRCm39) W24R probably damaging Het
Other mutations in Ccdc146
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ccdc146 APN 5 21,506,420 (GRCm39) missense possibly damaging 0.93
IGL01066:Ccdc146 APN 5 21,524,540 (GRCm39) missense probably benign 0.03
IGL01399:Ccdc146 APN 5 21,499,611 (GRCm39) missense possibly damaging 0.75
IGL01866:Ccdc146 APN 5 21,538,052 (GRCm39) missense probably damaging 0.99
IGL01868:Ccdc146 APN 5 21,538,052 (GRCm39) missense probably damaging 0.99
IGL01869:Ccdc146 APN 5 21,521,837 (GRCm39) missense probably benign 0.25
IGL02213:Ccdc146 APN 5 21,521,902 (GRCm39) missense probably benign 0.10
IGL02338:Ccdc146 APN 5 21,524,604 (GRCm39) unclassified probably benign
IGL02553:Ccdc146 APN 5 21,502,631 (GRCm39) missense probably benign 0.00
IGL02838:Ccdc146 APN 5 21,502,567 (GRCm39) missense probably benign 0.01
Starcraft UTSW 5 21,604,612 (GRCm39) splice site probably null
R0051:Ccdc146 UTSW 5 21,521,902 (GRCm39) missense possibly damaging 0.58
R0051:Ccdc146 UTSW 5 21,521,902 (GRCm39) missense possibly damaging 0.58
R0055:Ccdc146 UTSW 5 21,502,004 (GRCm39) splice site probably null
R0115:Ccdc146 UTSW 5 21,527,754 (GRCm39) missense possibly damaging 0.87
R0373:Ccdc146 UTSW 5 21,524,543 (GRCm39) missense probably benign 0.00
R1251:Ccdc146 UTSW 5 21,498,370 (GRCm39) missense probably benign 0.00
R1355:Ccdc146 UTSW 5 21,526,240 (GRCm39) missense probably damaging 1.00
R1405:Ccdc146 UTSW 5 21,604,730 (GRCm39) missense probably benign 0.00
R1405:Ccdc146 UTSW 5 21,604,730 (GRCm39) missense probably benign 0.00
R1470:Ccdc146 UTSW 5 21,524,564 (GRCm39) missense probably damaging 1.00
R1470:Ccdc146 UTSW 5 21,524,564 (GRCm39) missense probably damaging 1.00
R1556:Ccdc146 UTSW 5 21,535,551 (GRCm39) missense probably damaging 1.00
R1613:Ccdc146 UTSW 5 21,499,522 (GRCm39) missense probably damaging 0.99
R1872:Ccdc146 UTSW 5 21,506,288 (GRCm39) missense probably benign 0.01
R2271:Ccdc146 UTSW 5 21,604,719 (GRCm39) missense probably benign 0.15
R2329:Ccdc146 UTSW 5 21,513,610 (GRCm39) critical splice donor site probably null
R2518:Ccdc146 UTSW 5 21,510,526 (GRCm39) missense probably benign
R2680:Ccdc146 UTSW 5 21,510,267 (GRCm39) missense possibly damaging 0.58
R3116:Ccdc146 UTSW 5 21,521,953 (GRCm39) missense probably benign 0.02
R3121:Ccdc146 UTSW 5 21,499,591 (GRCm39) missense possibly damaging 0.56
R3122:Ccdc146 UTSW 5 21,499,591 (GRCm39) missense possibly damaging 0.56
R3159:Ccdc146 UTSW 5 21,604,790 (GRCm39) missense unknown
R3436:Ccdc146 UTSW 5 21,502,003 (GRCm39) missense possibly damaging 0.92
R4043:Ccdc146 UTSW 5 21,521,941 (GRCm39) missense probably benign 0.14
R4226:Ccdc146 UTSW 5 21,527,756 (GRCm39) missense probably benign 0.09
R4493:Ccdc146 UTSW 5 21,508,191 (GRCm39) missense possibly damaging 0.92
R5013:Ccdc146 UTSW 5 21,538,036 (GRCm39) missense probably damaging 1.00
R5024:Ccdc146 UTSW 5 21,604,612 (GRCm39) splice site probably null
R5051:Ccdc146 UTSW 5 21,508,081 (GRCm39) missense possibly damaging 0.77
R5384:Ccdc146 UTSW 5 21,513,711 (GRCm39) missense probably benign 0.37
R5532:Ccdc146 UTSW 5 21,510,329 (GRCm39) missense probably benign 0.02
R5906:Ccdc146 UTSW 5 21,506,350 (GRCm39) missense possibly damaging 0.88
R5927:Ccdc146 UTSW 5 21,513,619 (GRCm39) nonsense probably null
R5951:Ccdc146 UTSW 5 21,524,577 (GRCm39) missense possibly damaging 0.84
R5978:Ccdc146 UTSW 5 21,521,966 (GRCm39) missense probably benign 0.02
R5990:Ccdc146 UTSW 5 21,523,180 (GRCm39) missense probably benign 0.41
R6123:Ccdc146 UTSW 5 21,510,595 (GRCm39) missense possibly damaging 0.93
R6276:Ccdc146 UTSW 5 21,506,338 (GRCm39) missense probably damaging 0.98
R6665:Ccdc146 UTSW 5 21,508,092 (GRCm39) missense probably damaging 1.00
R7077:Ccdc146 UTSW 5 21,510,272 (GRCm39) missense possibly damaging 0.94
R7204:Ccdc146 UTSW 5 21,513,624 (GRCm39) missense probably benign 0.22
R7336:Ccdc146 UTSW 5 21,508,110 (GRCm39) missense probably benign 0.41
R7608:Ccdc146 UTSW 5 21,506,450 (GRCm39) missense probably benign 0.02
R8310:Ccdc146 UTSW 5 21,506,469 (GRCm39) intron probably benign
R8427:Ccdc146 UTSW 5 21,604,790 (GRCm39) missense unknown
R8927:Ccdc146 UTSW 5 21,538,060 (GRCm39) missense probably damaging 1.00
R8928:Ccdc146 UTSW 5 21,538,060 (GRCm39) missense probably damaging 1.00
R8957:Ccdc146 UTSW 5 21,514,585 (GRCm39) intron probably benign
R9003:Ccdc146 UTSW 5 21,508,132 (GRCm39) missense possibly damaging 0.58
R9252:Ccdc146 UTSW 5 21,502,023 (GRCm39) missense probably damaging 0.98
R9425:Ccdc146 UTSW 5 21,508,135 (GRCm39) missense probably damaging 0.99
R9612:Ccdc146 UTSW 5 21,535,577 (GRCm39) missense probably damaging 0.99
R9774:Ccdc146 UTSW 5 21,506,247 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGATTGGCAAGTGTCTGAATTAC -3'
(R):5'- GGCAAGCGAACCTTACTAGAAG -3'

Sequencing Primer
(F):5'- GCATATTTCAGCAATATAGTTCCCC -3'
(R):5'- GCGAACCTTACTAGAAGTCAAAG -3'
Posted On 2018-02-27