Incidental Mutation 'R7341:Ccdc9'
ID569859
Institutional Source Beutler Lab
Gene Symbol Ccdc9
Ensembl Gene ENSMUSG00000041375
Gene Namecoiled-coil domain containing 9
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R7341 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location16274042-16286795 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 16280627 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 230 (V230M)
Ref Sequence ENSEMBL: ENSMUSP00000114088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041010] [ENSMUST00000118976] [ENSMUST00000145519] [ENSMUST00000146609] [ENSMUST00000148741] [ENSMUST00000150528] [ENSMUST00000174270]
Predicted Effect probably damaging
Transcript: ENSMUST00000041010
AA Change: V230M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035597
Gene: ENSMUSG00000041375
AA Change: V230M

DomainStartEndE-ValueType
coiled coil region 5 52 N/A INTRINSIC
low complexity region 75 95 N/A INTRINSIC
low complexity region 121 135 N/A INTRINSIC
coiled coil region 150 184 N/A INTRINSIC
Pfam:DUF4594 203 378 1.1e-63 PFAM
coiled coil region 425 453 N/A INTRINSIC
low complexity region 490 507 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118976
AA Change: V230M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114088
Gene: ENSMUSG00000041375
AA Change: V230M

DomainStartEndE-ValueType
coiled coil region 5 52 N/A INTRINSIC
low complexity region 75 95 N/A INTRINSIC
low complexity region 121 135 N/A INTRINSIC
coiled coil region 150 184 N/A INTRINSIC
Pfam:DUF4594 204 375 6.3e-57 PFAM
coiled coil region 425 453 N/A INTRINSIC
low complexity region 490 507 N/A INTRINSIC
low complexity region 535 549 N/A INTRINSIC
low complexity region 580 588 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145519
Predicted Effect probably benign
Transcript: ENSMUST00000146085
SMART Domains Protein: ENSMUSP00000134049
Gene: ENSMUSG00000041375

DomainStartEndE-ValueType
Pfam:DUF4594 1 85 5.2e-16 PFAM
coiled coil region 135 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146609
Predicted Effect probably benign
Transcript: ENSMUST00000148741
Predicted Effect probably benign
Transcript: ENSMUST00000150528
Predicted Effect probably benign
Transcript: ENSMUST00000174270
SMART Domains Protein: ENSMUSP00000133798
Gene: ENSMUSG00000041375

DomainStartEndE-ValueType
coiled coil region 5 52 N/A INTRINSIC
low complexity region 75 95 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (92/92)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,299,867 D282N probably damaging Het
Adam3 T A 8: 24,687,980 N639I possibly damaging Het
Adamtsl3 T A 7: 82,556,874 C756S probably damaging Het
AI314180 A T 4: 58,809,415 V1653D possibly damaging Het
Arhgap31 C T 16: 38,712,514 probably null Het
Ascl4 G A 10: 85,928,665 A59T possibly damaging Het
Ash1l T A 3: 88,981,759 I315N possibly damaging Het
Atp6v0d2 T C 4: 19,887,330 D206G possibly damaging Het
Baz1b T A 5: 135,223,116 L923I probably damaging Het
BC067074 G T 13: 113,318,172 G251C Het
Birc6 T A 17: 74,612,074 N1966K probably damaging Het
Bod1l T C 5: 41,788,857 N3025S probably benign Het
Bub1b C A 2: 118,636,786 H863Q possibly damaging Het
C1rb T A 6: 124,577,452 Y397* probably null Het
Ccdc180 A G 4: 45,898,644 E164G possibly damaging Het
Cchcr1 C A 17: 35,526,713 N437K probably benign Het
Cdhr2 T A 13: 54,719,492 L408Q probably damaging Het
Cep89 G A 7: 35,429,928 R630H probably damaging Het
Chd1 T C 17: 15,770,237 S1684P probably damaging Het
CN725425 A G 15: 91,242,670 Y221C possibly damaging Het
Col4a2 T C 8: 11,398,678 V66A probably damaging Het
Cpd C A 11: 76,846,953 R5L unknown Het
Cpeb4 C T 11: 31,918,807 T422I possibly damaging Het
Cyp1a1 G T 9: 57,700,824 R245L probably damaging Het
Cyp4f39 A G 17: 32,486,954 T340A probably damaging Het
Cyp4v3 A T 8: 45,321,750 F122L probably benign Het
Drc1 T A 5: 30,364,468 L728Q probably damaging Het
Dsel C T 1: 111,861,573 G411S probably damaging Het
Ermp1 T A 19: 29,646,254 H112L probably benign Het
Exoc8 T C 8: 124,896,581 D349G probably damaging Het
Fam151a T A 4: 106,735,510 M63K probably benign Het
Fmo9 C A 1: 166,676,546 G149V probably damaging Het
Fndc8 A G 11: 82,898,777 T254A possibly damaging Het
Foxi3 G A 6: 70,960,878 V365I probably benign Het
Frem2 C T 3: 53,654,495 G864S probably damaging Het
Fstl5 T A 3: 76,482,397 probably null Het
Garnl3 T A 2: 33,034,129 E247V probably damaging Het
Gdi1 G A X: 74,306,855 R55H probably benign Het
Gorasp1 T A 9: 119,937,534 probably benign Het
Hcar2 T C 5: 123,864,478 N321D possibly damaging Het
Hoxb6 G T 11: 96,299,569 M131I probably damaging Het
Kif13a A G 13: 46,826,745 V177A probably damaging Het
Limch1 C T 5: 67,034,202 T794I probably benign Het
Lmbrd2 A G 15: 9,165,819 Y260C possibly damaging Het
Lmo7 A G 14: 101,885,512 N379S probably benign Het
Lrp6 G T 6: 134,450,818 P1604T probably damaging Het
Lrrc14 A T 15: 76,714,511 E449V probably damaging Het
Lrrc8c T C 5: 105,607,267 Y303H probably damaging Het
Mecr T G 4: 131,843,675 V58G probably null Het
Med12l T A 3: 59,042,403 D193E possibly damaging Het
Moap1 T C 12: 102,743,179 E37G probably damaging Het
Mrgprb2 T A 7: 48,552,896 Y27F probably benign Het
Ms4a6d G A 19: 11,590,073 Q155* probably null Het
Ndufs5 A T 4: 123,715,951 C43* probably null Het
Oaz2 A T 9: 65,688,901 D83V Het
Olfr204 T A 16: 59,315,149 N86I possibly damaging Het
Olfr329-ps A T 11: 58,542,707 Y269* probably null Het
Palm A G 10: 79,816,863 T191A probably damaging Het
Pclo C A 5: 14,675,836 D1569E unknown Het
Ppid T A 3: 79,600,297 D264E probably benign Het
Ppp1r3a A G 6: 14,718,750 S722P probably damaging Het
Ranbp2 A G 10: 58,485,797 S2639G possibly damaging Het
Rbak T C 5: 143,176,072 T68A probably benign Het
Rbm15b C T 9: 106,885,047 G641R probably benign Het
Rgsl1 A G 1: 153,793,845 I265T probably benign Het
Rmdn1 T A 4: 19,586,837 Y98* probably null Het
Sfxn3 T G 19: 45,049,262 N52K probably benign Het
Slc17a3 G T 13: 23,846,884 G182* probably null Het
Slc29a3 A T 10: 60,750,658 Y10N probably benign Het
Slc43a1 T C 2: 84,862,934 Y577H probably damaging Het
Smarcd3 T A 5: 24,595,437 I210F possibly damaging Het
Snapc4 A T 2: 26,369,261 S626T probably benign Het
Sp5 T A 2: 70,476,697 L242* probably null Het
Spata25 C G 2: 164,827,662 G143A probably damaging Het
Spata6 T A 4: 111,768,738 Y101* probably null Het
Tdp2 T G 13: 24,832,076 S89A probably benign Het
Tlr6 T C 5: 64,953,629 E645G probably benign Het
Tmem209 T C 6: 30,494,795 I355V probably benign Het
Trappc8 A T 18: 20,852,647 Y646N probably damaging Het
Tspoap1 A G 11: 87,766,379 N399S probably damaging Het
Ube4b A G 4: 149,343,001 Y897H probably damaging Het
Urb1 CACTTAC CAC 16: 90,772,573 probably benign Het
Usp9y A T Y: 1,315,759 probably null Het
Vmn2r1 T C 3: 64,105,456 *913Q probably null Het
Vmn2r12 T A 5: 109,086,247 T700S possibly damaging Het
Vmn2r12 C T 5: 109,091,945 A251T possibly damaging Het
Wdr70 A C 15: 7,924,244 F389V possibly damaging Het
Wdr91 A T 6: 34,891,460 M442K possibly damaging Het
Ydjc T C 16: 17,150,898 C234R probably benign Het
Zfp72 A G 13: 74,372,348 Y204H possibly damaging Het
Other mutations in Ccdc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Ccdc9 APN 7 16284499 start codon destroyed probably null 0.01
IGL02167:Ccdc9 APN 7 16284359 nonsense probably null
IGL02513:Ccdc9 APN 7 16284509 utr 5 prime probably benign
IGL02805:Ccdc9 APN 7 16275274 missense probably benign 0.01
R0537:Ccdc9 UTSW 7 16280776 unclassified probably benign
R0631:Ccdc9 UTSW 7 16278459 missense probably damaging 1.00
R1340:Ccdc9 UTSW 7 16275390 unclassified probably benign
R1758:Ccdc9 UTSW 7 16276236 missense probably damaging 0.99
R2067:Ccdc9 UTSW 7 16278550 splice site probably null
R2207:Ccdc9 UTSW 7 16284269 critical splice donor site probably benign
R5278:Ccdc9 UTSW 7 16278381 nonsense probably null
R5371:Ccdc9 UTSW 7 16280730 missense probably damaging 1.00
R7526:Ccdc9 UTSW 7 16282400 missense probably damaging 0.98
R7556:Ccdc9 UTSW 7 16284566 intron probably benign
R7683:Ccdc9 UTSW 7 16284362 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATAGTGAGTTCCTAAGCAGCC -3'
(R):5'- GAATATGAGCGCAACCAGC -3'

Sequencing Primer
(F):5'- AGTTCCTAAGCAGCCCCAGG -3'
(R):5'- GCTGAGTGGAAAGCACCC -3'
Posted On2019-09-13