Incidental Mutation 'R6681:Ccdc62'
ID527494
Institutional Source Beutler Lab
Gene Symbol Ccdc62
Ensembl Gene ENSMUSG00000061882
Gene Namecoiled-coil domain containing 62
SynonymsLOC208908
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6681 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location123930679-123969895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123934093 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 62 (T62A)
Ref Sequence ENSEMBL: ENSMUSP00000127483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094320] [ENSMUST00000165148] [ENSMUST00000166129]
Predicted Effect probably benign
Transcript: ENSMUST00000094320
AA Change: T62A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882
AA Change: T62A

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165148
AA Change: T62A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882
AA Change: T62A

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166129
SMART Domains Protein: ENSMUSP00000143501
Gene: ENSMUSG00000105875

DomainStartEndE-ValueType
coiled coil region 16 109 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166983
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
MGI Phenotype PHENOTYPE: Homozygotes for an ENU-induced mutation or a deletion knockout exhibit male reproductive abnormalities including infertility, low sperm count, abnormal sperm head and tail morphology, very low sperm motility, and low seminal vesicle weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,121,798 T971S probably damaging Het
Catsperb C T 12: 101,624,735 Q1021* probably null Het
Cuzd1 A G 7: 131,311,683 S402P probably damaging Het
Dcun1d1 C T 3: 35,895,670 V244M probably damaging Het
Dennd2c A G 3: 103,131,661 T42A probably benign Het
Dnah7a T C 1: 53,521,226 probably null Het
Dnase1l1 C T X: 74,277,038 probably null Homo
Dpp4 A T 2: 62,348,549 F607L probably benign Het
Ech1 C T 7: 28,830,338 probably null Het
Fam53a A G 5: 33,607,840 L174P probably damaging Het
Fh1 T C 1: 175,619,124 D62G probably null Het
Gm15448 T A 7: 3,822,252 M464L probably benign Het
Gpatch11 T C 17: 78,840,099 I103T probably damaging Het
Hmgcll1 A T 9: 76,081,449 T169S probably benign Het
Kbtbd3 A T 9: 4,330,687 I354F probably benign Het
Kdm5b T C 1: 134,613,269 F700L possibly damaging Het
Mamdc4 C A 2: 25,567,744 G439V probably damaging Het
Mrps30 A T 13: 118,380,598 S362T probably damaging Het
Mug1 C T 6: 121,838,724 S29L possibly damaging Het
Myh2 G A 11: 67,178,348 D328N probably damaging Het
Olfr1106 T C 2: 87,048,598 T213A probably benign Het
Olfr1404 C A 1: 173,216,406 H252N probably damaging Het
Olfr1450 A G 19: 12,954,459 Y290C probably damaging Het
Olfr969 T A 9: 39,795,414 I13N probably benign Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pus7l G A 15: 94,527,865 P552S probably benign Het
Rest A G 5: 77,280,997 K421R probably damaging Het
Rttn C A 18: 89,014,611 H668N probably damaging Het
Scn9a T C 2: 66,563,342 I228V possibly damaging Het
Scp2 G T 4: 108,091,316 Q155K probably damaging Het
Sec61a2 G A 2: 5,876,408 R18* probably null Het
Serpinb8 T A 1: 107,597,591 M41K probably damaging Het
Sgsm2 A T 11: 74,865,378 W382R probably damaging Het
Slc26a10 G T 10: 127,173,661 T606N possibly damaging Het
Slc30a6 T C 17: 74,404,032 I40T possibly damaging Het
Slfn5 G A 11: 82,956,378 E30K possibly damaging Het
Sorcs2 C A 5: 36,397,810 R79L probably benign Het
Tmc5 G A 7: 118,669,304 S865N probably damaging Het
Tmprss11c T A 5: 86,289,260 M1L possibly damaging Het
Trpv5 C G 6: 41,653,354 E601Q probably damaging Het
Ttc39b A T 4: 83,240,048 probably benign Het
Ttll6 T A 11: 96,138,863 C201S probably damaging Het
Vezt A G 10: 93,996,997 V204A probably benign Het
Vmn1r45 T A 6: 89,934,003 probably benign Het
Zfp433 A T 10: 81,720,888 H408L probably damaging Het
Zfp865 T C 7: 5,029,451 I145T possibly damaging Het
Other mutations in Ccdc62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Ccdc62 APN 5 123954576 missense possibly damaging 0.83
IGL02491:Ccdc62 APN 5 123961315 missense probably damaging 1.00
IGL02634:Ccdc62 APN 5 123954257 missense probably benign 0.03
IGL02938:Ccdc62 APN 5 123934184 missense probably benign 0.30
IGL03274:Ccdc62 APN 5 123954680 missense probably benign 0.00
IGL03293:Ccdc62 APN 5 123951225 missense possibly damaging 0.95
Condensed UTSW 5 123934093 missense probably benign 0.00
R0356:Ccdc62 UTSW 5 123954748 missense probably benign 0.05
R3915:Ccdc62 UTSW 5 123954715 missense probably damaging 1.00
R4708:Ccdc62 UTSW 5 123930862 critical splice donor site probably null
R5731:Ccdc62 UTSW 5 123951289 critical splice donor site probably null
R6354:Ccdc62 UTSW 5 123944204 missense probably damaging 0.96
R7340:Ccdc62 UTSW 5 123951220 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAAGGACTGTGTACTGTACGATG -3'
(R):5'- TCTGACCTTCGAGCTTGCTG -3'

Sequencing Primer
(F):5'- TGCGACAGGCTTGAACTTGC -3'
(R):5'- TTCGAGCTTGCTGCAGCG -3'
Posted On2018-07-23