Incidental Mutation 'R0302:Ccdc96'
ID 24842
Institutional Source Beutler Lab
Gene Symbol Ccdc96
Ensembl Gene ENSMUSG00000050677
Gene Name coiled-coil domain containing 96
Synonyms 4921513E08Rik
MMRRC Submission 038514-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0302 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 36641932-36645515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36643445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 484 (T484S)
Ref Sequence ENSEMBL: ENSMUSP00000059636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000031097] [ENSMUST00000060100] [ENSMUST00000119916] [ENSMUST00000126077] [ENSMUST00000136189] [ENSMUST00000140607] [ENSMUST00000146430] [ENSMUST00000171385]
AlphaFold Q9CR92
Predicted Effect probably benign
Transcript: ENSMUST00000031094
SMART Domains Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
low complexity region 159 174 N/A INTRINSIC
Blast:TBC 316 375 1e-8 BLAST
TBC 399 635 1.49e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031097
SMART Domains Protein: ENSMUSP00000031097
Gene: ENSMUSG00000029196

DomainStartEndE-ValueType
ZnF_ZZ 3 46 2.64e-5 SMART
SANT 66 116 1.75e-9 SMART
low complexity region 138 154 N/A INTRINSIC
low complexity region 233 260 N/A INTRINSIC
low complexity region 306 325 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000060100
AA Change: T484S

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059636
Gene: ENSMUSG00000050677
AA Change: T484S

DomainStartEndE-ValueType
low complexity region 37 50 N/A INTRINSIC
SCOP:d1qbkb_ 99 144 6e-3 SMART
low complexity region 223 234 N/A INTRINSIC
coiled coil region 315 355 N/A INTRINSIC
Pfam:DUF4201 394 570 9.5e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119916
SMART Domains Protein: ENSMUSP00000114124
Gene: ENSMUSG00000029196

DomainStartEndE-ValueType
Blast:SANT 16 41 2e-10 BLAST
low complexity region 63 79 N/A INTRINSIC
low complexity region 158 185 N/A INTRINSIC
low complexity region 231 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126077
SMART Domains Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
Blast:TBC 35 94 5e-9 BLAST
TBC 118 354 1.49e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136189
SMART Domains Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
low complexity region 159 174 N/A INTRINSIC
Blast:TBC 247 322 1e-32 BLAST
TBC 399 559 8.9e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140607
SMART Domains Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
low complexity region 159 174 N/A INTRINSIC
Blast:TBC 316 375 1e-8 BLAST
TBC 399 635 1.49e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146430
SMART Domains Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
low complexity region 159 174 N/A INTRINSIC
Blast:TBC 316 375 1e-8 BLAST
TBC 399 635 1.49e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171385
SMART Domains Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192

DomainStartEndE-ValueType
Blast:TBC 35 94 5e-9 BLAST
TBC 118 354 1.49e-54 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs T C 4: 126,211,185 (GRCm39) E244G probably benign Het
Aldh1l2 G A 10: 83,356,229 (GRCm39) P54S probably damaging Het
Ankdd1a G A 9: 65,416,924 (GRCm39) probably benign Het
Ankra2 T A 13: 98,408,200 (GRCm39) S216R probably damaging Het
Asah2 A T 19: 32,030,356 (GRCm39) N105K probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Cacna1s A G 1: 136,028,342 (GRCm39) Y893C probably benign Het
Capza2 G A 6: 17,648,523 (GRCm39) R15H probably benign Het
Cbfa2t2 T C 2: 154,376,796 (GRCm39) probably benign Het
Cckar GCTTAGCCTCTTCT GCT 5: 53,857,641 (GRCm39) probably null Het
Ccl4 T A 11: 83,554,280 (GRCm39) probably benign Het
Cpt1b A G 15: 89,302,073 (GRCm39) Y702H probably benign Het
Cr1l G A 1: 194,800,101 (GRCm39) T153I probably damaging Het
Cyth2 C A 7: 45,460,009 (GRCm39) E57* probably null Het
Daxx T A 17: 34,132,594 (GRCm39) S575T probably damaging Het
Depdc5 T C 5: 33,061,890 (GRCm39) probably benign Het
Dnah12 A G 14: 26,521,956 (GRCm39) D1923G probably damaging Het
Dnah7b A G 1: 46,162,937 (GRCm39) T428A probably benign Het
Dnm2 G T 9: 21,411,639 (GRCm39) A619S probably benign Het
Enpp2 T C 15: 54,723,457 (GRCm39) T639A probably benign Het
Epsti1 A T 14: 78,177,366 (GRCm39) H182L probably damaging Het
Exoc3l C T 8: 106,020,175 (GRCm39) R250Q probably benign Het
Ggn G T 7: 28,870,665 (GRCm39) probably null Het
Il1rap A G 16: 26,511,544 (GRCm39) N196S probably benign Het
Ints6 T C 14: 62,946,961 (GRCm39) T335A probably damaging Het
Itga1 G A 13: 115,148,854 (GRCm39) probably benign Het
Kifc3 G T 8: 95,830,098 (GRCm39) Q557K possibly damaging Het
Krt23 A G 11: 99,369,027 (GRCm39) I422T probably benign Het
Lcn2 A G 2: 32,274,901 (GRCm39) probably benign Het
Lonp2 A G 8: 87,364,619 (GRCm39) T326A possibly damaging Het
Lrpprc T C 17: 85,047,506 (GRCm39) I909V possibly damaging Het
Lrrc14 G T 15: 76,598,552 (GRCm39) R396L probably benign Het
Lypd6 T G 2: 50,055,679 (GRCm39) probably benign Het
Man2b1 A G 8: 85,819,645 (GRCm39) N610S probably damaging Het
Map2 A T 1: 66,453,987 (GRCm39) N959I probably benign Het
Mctp2 C T 7: 71,740,012 (GRCm39) V793I possibly damaging Het
Med25 A C 7: 44,529,982 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,748,616 (GRCm39) Y83C probably damaging Het
Mtbp A T 15: 55,488,820 (GRCm39) M499L probably damaging Het
Mtmr10 A T 7: 63,947,245 (GRCm39) K53N probably damaging Het
Nfat5 T C 8: 108,085,333 (GRCm39) I542T probably damaging Het
Nr1h3 A G 2: 91,022,358 (GRCm39) M90T probably damaging Het
Nsmce4a A G 7: 130,147,623 (GRCm39) probably benign Het
Oprl1 G A 2: 181,361,021 (GRCm39) C318Y probably benign Het
Or5d40 T A 2: 88,015,854 (GRCm39) I211N possibly damaging Het
Pbx3 A T 2: 34,114,572 (GRCm39) S46T probably benign Het
Pign A T 1: 105,516,818 (GRCm39) F575I possibly damaging Het
Ptpn13 G T 5: 103,713,091 (GRCm39) S1738I probably benign Het
Rnf126 G T 10: 79,595,057 (GRCm39) P269Q probably damaging Het
Ryr3 G A 2: 112,477,468 (GRCm39) probably benign Het
Slc2a7 C T 4: 150,233,978 (GRCm39) A31V probably damaging Het
Slc6a12 A G 6: 121,340,218 (GRCm39) D487G probably damaging Het
Son G T 16: 91,453,032 (GRCm39) G593V probably damaging Het
Spata31d1a T C 13: 59,850,964 (GRCm39) N388S probably benign Het
Spg11 A T 2: 121,922,668 (GRCm39) M927K possibly damaging Het
Taf13 A G 3: 108,479,038 (GRCm39) M1V probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trio A G 15: 27,902,603 (GRCm39) F286S probably damaging Het
Trpm2 A C 10: 77,779,824 (GRCm39) probably benign Het
Ttc7b T C 12: 100,353,438 (GRCm39) M390V possibly damaging Het
Vmn1r184 A T 7: 25,966,968 (GRCm39) Q238L probably damaging Het
Zfp236 T C 18: 82,676,213 (GRCm39) E368G probably damaging Het
Zfr2 G T 10: 81,087,170 (GRCm39) probably benign Het
Other mutations in Ccdc96
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Ccdc96 APN 5 36,642,424 (GRCm39) unclassified probably benign
R0167:Ccdc96 UTSW 5 36,642,497 (GRCm39) missense probably benign 0.18
R0423:Ccdc96 UTSW 5 36,642,591 (GRCm39) missense probably benign 0.41
R0532:Ccdc96 UTSW 5 36,643,710 (GRCm39) missense probably benign 0.18
R3800:Ccdc96 UTSW 5 36,643,611 (GRCm39) missense probably damaging 1.00
R3977:Ccdc96 UTSW 5 36,642,510 (GRCm39) missense possibly damaging 0.96
R4575:Ccdc96 UTSW 5 36,643,419 (GRCm39) missense possibly damaging 0.88
R4720:Ccdc96 UTSW 5 36,642,219 (GRCm39) unclassified probably benign
R5476:Ccdc96 UTSW 5 36,642,981 (GRCm39) missense possibly damaging 0.83
R5945:Ccdc96 UTSW 5 36,643,194 (GRCm39) missense probably damaging 1.00
R5995:Ccdc96 UTSW 5 36,643,718 (GRCm39) missense probably damaging 0.99
R6434:Ccdc96 UTSW 5 36,643,707 (GRCm39) missense probably damaging 1.00
R6493:Ccdc96 UTSW 5 36,643,596 (GRCm39) missense probably damaging 0.99
R6632:Ccdc96 UTSW 5 36,642,533 (GRCm39) missense probably benign 0.07
R6633:Ccdc96 UTSW 5 36,642,533 (GRCm39) missense probably benign 0.07
R7395:Ccdc96 UTSW 5 36,642,609 (GRCm39) missense probably benign 0.29
R7819:Ccdc96 UTSW 5 36,643,329 (GRCm39) missense probably damaging 0.98
R8466:Ccdc96 UTSW 5 36,642,252 (GRCm39) unclassified probably benign
R9351:Ccdc96 UTSW 5 36,642,069 (GRCm39) missense unknown
X0022:Ccdc96 UTSW 5 36,643,718 (GRCm39) missense probably damaging 1.00
Z1176:Ccdc96 UTSW 5 36,642,938 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGCAGAGCCTGGTACACTTTGAAAC -3'
(R):5'- GCGCCTGTTGAGCATTTCTGTC -3'

Sequencing Primer
(F):5'- CTGGTACACTTTGAAACCAGGATG -3'
(R):5'- GTTGAGCATTTCTGTCTTCTCCAC -3'
Posted On 2013-04-16