Incidental Mutation 'R6681:Ccdc62'
ID 527494
Institutional Source Beutler Lab
Gene Symbol Ccdc62
Ensembl Gene ENSMUSG00000061882
Gene Name coiled-coil domain containing 62
Synonyms repro29, LOC208908, G1-485-3
MMRRC Submission 044800-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6681 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 124068742-124107958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124072156 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold E9PVD1
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: 121,915,447 (GRCm39) T971S probably damaging Het
Catsperb C T 12: 101,590,994 (GRCm39) Q1021* probably null Het
Cuzd1 A G 7: 130,913,412 (GRCm39) S402P probably damaging Het
Dcun1d1 C T 3: 35,949,819 (GRCm39) V244M probably damaging Het
Dennd2c A G 3: 103,038,977 (GRCm39) T42A probably benign Het
Dnah7a T C 1: 53,560,385 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpp4 A T 2: 62,178,893 (GRCm39) F607L probably benign Het
Ech1 C T 7: 28,529,763 (GRCm39) probably null Het
Fam53a A G 5: 33,765,184 (GRCm39) L174P probably damaging Het
Fh1 T C 1: 175,446,690 (GRCm39) D62G probably null Het
Gpatch11 T C 17: 79,147,528 (GRCm39) I103T probably damaging Het
Hmgcll1 A T 9: 75,988,731 (GRCm39) T169S probably benign Het
Kbtbd3 A T 9: 4,330,687 (GRCm39) I354F probably benign Het
Kdm5b T C 1: 134,541,007 (GRCm39) F700L possibly damaging Het
Mamdc4 C A 2: 25,457,756 (GRCm39) G439V probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Mug1 C T 6: 121,815,683 (GRCm39) S29L possibly damaging Het
Myh2 G A 11: 67,069,174 (GRCm39) D328N probably damaging Het
Or10j3b C A 1: 173,043,973 (GRCm39) H252N probably damaging Het
Or5b98 A G 19: 12,931,823 (GRCm39) Y290C probably damaging Het
Or5j1 T C 2: 86,878,942 (GRCm39) T213A probably benign Het
Or8g54 T A 9: 39,706,710 (GRCm39) I13N probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pira13 T A 7: 3,825,251 (GRCm39) M464L probably benign Het
Pus7l G A 15: 94,425,746 (GRCm39) P552S probably benign Het
Rest A G 5: 77,428,844 (GRCm39) K421R probably damaging Het
Rttn C A 18: 89,032,735 (GRCm39) H668N probably damaging Het
Scn9a T C 2: 66,393,686 (GRCm39) I228V possibly damaging Het
Scp2 G T 4: 107,948,513 (GRCm39) Q155K probably damaging Het
Sec61a2 G A 2: 5,881,219 (GRCm39) R18* probably null Het
Serpinb8 T A 1: 107,525,321 (GRCm39) M41K probably damaging Het
Sgsm2 A T 11: 74,756,204 (GRCm39) W382R probably damaging Het
Slc26a10 G T 10: 127,009,530 (GRCm39) T606N possibly damaging Het
Slc30a6 T C 17: 74,711,027 (GRCm39) I40T possibly damaging Het
Slfn5 G A 11: 82,847,204 (GRCm39) E30K possibly damaging Het
Sorcs2 C A 5: 36,555,154 (GRCm39) R79L probably benign Het
Tmc5 G A 7: 118,268,527 (GRCm39) S865N probably damaging Het
Tmprss11c T A 5: 86,437,119 (GRCm39) M1L possibly damaging Het
Trpv5 C G 6: 41,630,288 (GRCm39) E601Q probably damaging Het
Ttc39b A T 4: 83,158,285 (GRCm39) probably benign Het
Ttll6 T A 11: 96,029,689 (GRCm39) C201S probably damaging Het
Vezt A G 10: 93,832,859 (GRCm39) V204A probably benign Het
Vmn1r45 T A 6: 89,910,985 (GRCm39) probably benign Het
Zfp433 A T 10: 81,556,722 (GRCm39) H408L probably damaging Het
Zfp865 T C 7: 5,032,450 (GRCm39) I145T possibly damaging Het
Other mutations in Ccdc62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Ccdc62 APN 5 124,092,639 (GRCm39) missense possibly damaging 0.83
IGL02491:Ccdc62 APN 5 124,099,378 (GRCm39) missense probably damaging 1.00
IGL02634:Ccdc62 APN 5 124,092,320 (GRCm39) missense probably benign 0.03
IGL02938:Ccdc62 APN 5 124,072,247 (GRCm39) missense probably benign 0.30
IGL03274:Ccdc62 APN 5 124,092,743 (GRCm39) missense probably benign 0.00
IGL03293:Ccdc62 APN 5 124,089,288 (GRCm39) missense possibly damaging 0.95
Condensed UTSW 5 124,072,156 (GRCm39) missense probably benign 0.00
R0356:Ccdc62 UTSW 5 124,092,811 (GRCm39) missense probably benign 0.05
R3915:Ccdc62 UTSW 5 124,092,778 (GRCm39) missense probably damaging 1.00
R4708:Ccdc62 UTSW 5 124,068,925 (GRCm39) critical splice donor site probably null
R5731:Ccdc62 UTSW 5 124,089,352 (GRCm39) critical splice donor site probably null
R6354:Ccdc62 UTSW 5 124,082,267 (GRCm39) missense probably damaging 0.96
R7340:Ccdc62 UTSW 5 124,089,283 (GRCm39) missense probably damaging 1.00
R8325:Ccdc62 UTSW 5 124,092,448 (GRCm39) missense probably benign 0.28
R8418:Ccdc62 UTSW 5 124,084,455 (GRCm39) nonsense probably null
R8845:Ccdc62 UTSW 5 124,092,470 (GRCm39) missense probably benign
R9217:Ccdc62 UTSW 5 124,092,470 (GRCm39) missense probably benign
R9294:Ccdc62 UTSW 5 124,092,772 (GRCm39) missense possibly damaging 0.79
R9518:Ccdc62 UTSW 5 124,089,288 (GRCm39) missense possibly damaging 0.95
R9536:Ccdc62 UTSW 5 124,092,749 (GRCm39) 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 On 2018-07-23