Incidental Mutation 'R0373:Ccdc146'
ID 30600
Institutional Source Beutler Lab
Gene Symbol Ccdc146
Ensembl Gene ENSMUSG00000064280
Gene Name coiled-coil domain containing 146
Synonyms 4930528G09Rik
MMRRC Submission 038579-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0373 (G1)
Quality Score 200
Status Not validated
Chromosome 5
Chromosomal Location 21497959-21629675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21524543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 270 (M270L)
Ref Sequence ENSEMBL: ENSMUSP00000030552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000115245] [ENSMUST00000198930]
AlphaFold E9Q9F7
Predicted Effect probably benign
Transcript: ENSMUST00000030552
AA Change: M270L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
AA Change: M270L

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 benign
Transcript: ENSMUST00000115245
AA Change: M270L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: M270L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A T 3: 137,879,343 (GRCm39) L235Q probably damaging Het
Aadacl4fm4 A T 4: 144,412,790 (GRCm39) M50K possibly damaging Het
Adam6b T A 12: 113,454,275 (GRCm39) V364D probably benign Het
Akap13 T C 7: 75,259,677 (GRCm39) L767P probably benign Het
Akap13 T A 7: 75,380,248 (GRCm39) S2193T probably damaging Het
Anapc11 T C 11: 120,496,203 (GRCm39) V69A probably benign Het
Ankmy1 C T 1: 92,823,912 (GRCm39) R118Q probably damaging Het
Ankrd27 T C 7: 35,337,478 (GRCm39) S931P probably benign Het
Atp6v1c2 G A 12: 17,338,169 (GRCm39) R280C probably damaging Het
Bbs10 T A 10: 111,135,913 (GRCm39) I342N probably damaging Het
Calhm2 T C 19: 47,121,389 (GRCm39) D260G possibly damaging Het
Camk2a A G 18: 61,091,310 (GRCm39) E264G probably damaging Het
Cdc16 A G 8: 13,829,264 (GRCm39) T517A probably benign Het
Ces1g T C 8: 94,057,821 (GRCm39) H160R probably benign Het
Chst4 T C 8: 110,757,026 (GRCm39) N196S probably damaging Het
Ciz1 A T 2: 32,257,479 (GRCm39) N175Y probably damaging Het
Cyb5r4 G A 9: 86,909,093 (GRCm39) V57I probably damaging Het
Cyth3 A G 5: 143,670,181 (GRCm39) probably benign Het
Def6 A G 17: 28,439,154 (GRCm39) E255G probably damaging Het
Dhtkd1 T G 2: 5,916,681 (GRCm39) Q665P probably damaging Het
Dsg3 A C 18: 20,672,804 (GRCm39) D825A probably damaging Het
Eif3m T C 2: 104,835,345 (GRCm39) T242A probably benign Het
Emilin3 A G 2: 160,751,737 (GRCm39) F101L probably benign Het
Epha7 A G 4: 28,935,700 (GRCm39) probably null Het
Fbxo45 A T 16: 32,057,223 (GRCm39) Y224N probably damaging Het
Fhod3 A T 18: 25,223,161 (GRCm39) M836L possibly damaging Het
Fut4 C A 9: 14,662,506 (GRCm39) V263F probably damaging Het
Ggt1 C T 10: 75,415,104 (GRCm39) T206M probably benign Het
Gls T C 1: 52,227,858 (GRCm39) R79G probably damaging Het
Grhl1 T C 12: 24,631,514 (GRCm39) S156P probably benign Het
Ipo8 C T 6: 148,676,540 (GRCm39) S983N probably benign Het
Kcna7 C T 7: 45,058,868 (GRCm39) A385V probably damaging Het
Kpnb1 A T 11: 97,075,916 (GRCm39) L40Q probably damaging Het
Matn1 A T 4: 130,677,417 (GRCm39) S209C probably damaging Het
Mcc A G 18: 44,608,289 (GRCm39) I501T probably benign Het
Mdp1 A T 14: 55,896,832 (GRCm39) F104L probably damaging Het
Mib2 A T 4: 155,740,745 (GRCm39) N626K probably damaging Het
Mrgprh T C 17: 13,095,843 (GRCm39) S28P possibly damaging Het
Mup-ps23 T A 4: 61,774,386 (GRCm39) noncoding transcript Het
Myh15 A G 16: 49,003,322 (GRCm39) T1794A possibly damaging Het
Myo18a C G 11: 77,711,868 (GRCm39) P680A probably benign Het
Myom2 G T 8: 15,148,419 (GRCm39) D532Y possibly damaging Het
Ndufaf5 A G 2: 140,012,801 (GRCm39) N57S probably benign Het
Nectin3 C T 16: 46,278,550 (GRCm39) V282M probably damaging Het
Nup188 G T 2: 30,221,000 (GRCm39) D997Y probably damaging Het
Olfm3 T C 3: 114,916,454 (GRCm39) V462A probably damaging Het
Opcml A G 9: 28,724,694 (GRCm39) H164R possibly damaging Het
Or14a259 A T 7: 86,013,013 (GRCm39) C177* probably null Het
Or4c120 A T 2: 89,000,757 (GRCm39) F266L probably benign Het
Or8u9 A C 2: 86,002,050 (GRCm39) F37C probably damaging Het
Pacrg A G 17: 10,622,347 (GRCm39) I209T probably damaging Het
Pcf11 T C 7: 92,310,423 (GRCm39) M522V probably benign Het
Pck1 T A 2: 172,995,183 (GRCm39) M1K probably null Het
Pcm1 G T 8: 41,729,148 (GRCm39) E707* probably null Het
Pcsk5 G A 19: 17,632,213 (GRCm39) R318W probably damaging Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Ppip5k2 A T 1: 97,668,262 (GRCm39) C615* probably null Het
Prkdc T A 16: 15,609,791 (GRCm39) S3132T probably damaging Het
Prl2c5 A T 13: 13,357,609 (GRCm39) probably benign Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Rad50 A G 11: 53,541,346 (GRCm39) S1297P probably damaging Het
Rasip1 T A 7: 45,284,668 (GRCm39) N678K possibly damaging Het
Rubcn A G 16: 32,656,350 (GRCm39) S544P probably damaging Het
Rwdd2a A T 9: 86,456,453 (GRCm39) T210S possibly damaging Het
Scd2 A G 19: 44,291,479 (GRCm39) D306G probably damaging Het
Sema3b T C 9: 107,480,117 (GRCm39) N207S probably benign Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Sipa1l2 C A 8: 126,191,149 (GRCm39) C947F probably damaging Het
Slc12a1 A T 2: 125,067,951 (GRCm39) T1013S probably damaging Het
Slc18a2 A T 19: 59,275,799 (GRCm39) I461L probably benign Het
Slc1a6 C A 10: 78,637,756 (GRCm39) Y427* probably null Het
Slc30a4 A T 2: 122,531,319 (GRCm39) I231K probably damaging Het
Sos1 G T 17: 80,761,192 (GRCm39) A168D probably damaging Het
Spata31f1a T C 4: 42,851,161 (GRCm39) I332V probably benign Het
Sptb T C 12: 76,668,145 (GRCm39) S651G probably benign Het
Stk36 T C 1: 74,672,779 (GRCm39) L1007P probably damaging Het
Tek A T 4: 94,692,578 (GRCm39) N229Y probably damaging Het
Tep1 A G 14: 51,074,225 (GRCm39) F1887L possibly damaging Het
Tet1 A T 10: 62,713,988 (GRCm39) C602* probably null Het
Tnfrsf19 A G 14: 61,209,485 (GRCm39) S262P possibly damaging Het
Trim5 T C 7: 103,914,891 (GRCm39) I393V probably benign Het
Trpm6 A G 19: 18,830,951 (GRCm39) E1272G probably benign Het
Ttc21b A T 2: 66,018,670 (GRCm39) Y1246N probably damaging Het
Ttll3 T A 6: 113,375,738 (GRCm39) L151H probably damaging Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Ubr1 A T 2: 120,777,138 (GRCm39) Y276N probably benign Het
Uggt1 A G 1: 36,218,751 (GRCm39) S59P probably benign Het
Unc45a T C 7: 79,976,092 (GRCm39) T796A probably damaging Het
Unc5b C A 10: 60,614,719 (GRCm39) V193F possibly damaging Het
Upp1 G T 11: 9,079,590 (GRCm39) M50I probably benign Het
Vps18 C T 2: 119,124,386 (GRCm39) R438C probably damaging Het
Zfp715 T C 7: 42,948,760 (GRCm39) Y400C possibly damaging Het
Zfp955b T C 17: 33,521,496 (GRCm39) Y322H probably benign 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
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
R6217:Ccdc146 UTSW 5 21,522,900 (GRCm39) splice site probably null
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'- TCCCCAGCCTTGATGAAGTCACTG -3'
(R):5'- TTGGCCTGGCACCAGAAAGAAC -3'

Sequencing Primer
(F):5'- ACTGGTGGTCTCCATAGAAAC -3'
(R):5'- TGGCtacatcattacatcattacatc -3'
Posted On 2013-04-24