Incidental Mutation 'IGL01012:Ccdc7b'
ID53719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc7b
Ensembl Gene ENSMUSG00000056018
Gene Namecoiled-coil domain containing 7B
Synonyms1700008F21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01012
Quality Score
Status
Chromosome8
Chromosomal Location129067134-129183732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129178357 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 159 (T159A)
Ref Sequence ENSEMBL: ENSMUSP00000104378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026912] [ENSMUST00000108745] [ENSMUST00000148234]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026912
AA Change: T362A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018
AA Change: T362A

DomainStartEndE-ValueType
Pfam:BioT2 1 93 1.7e-36 PFAM
coiled coil region 225 262 N/A INTRINSIC
low complexity region 276 287 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108744
SMART Domains Protein: ENSMUSP00000104377
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
coiled coil region 22 59 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108745
AA Change: T159A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104378
Gene: ENSMUSG00000056018
AA Change: T159A

DomainStartEndE-ValueType
coiled coil region 22 59 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148234
SMART Domains Protein: ENSMUSP00000118197
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
Pfam:BioT2 1 153 1.3e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189055
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,839,701 M249K possibly damaging Het
Adamtsl1 T C 4: 86,342,189 F879S possibly damaging Het
Afap1l2 T C 19: 56,930,261 E30G probably damaging Het
Aqp9 A G 9: 71,130,549 probably benign Het
Arhgap17 A T 7: 123,286,568 probably benign Het
Arhgef10 T C 8: 14,979,977 S921P probably damaging Het
Atp6v0e2 T C 6: 48,537,815 I22T probably damaging Het
AY074887 C T 9: 54,950,679 probably benign Het
Bcl2l15 T A 3: 103,833,414 D65E probably damaging Het
C2cd6 A T 1: 58,997,348 probably benign Het
Ccdc138 G A 10: 58,540,915 probably null Het
Ccser1 A G 6: 61,638,490 T659A probably benign Het
Cd300ld2 T A 11: 115,012,297 I241F probably benign Het
Cep192 T A 18: 67,812,406 N192K possibly damaging Het
Csmd1 T C 8: 15,917,341 K3174R probably benign Het
Dpy30 A T 17: 74,307,754 L65I probably damaging Het
Eci2 A T 13: 34,990,329 L83* probably null Het
F7 A T 8: 13,033,409 E183V probably damaging Het
Fam192a G A 8: 94,587,362 R104W probably damaging Het
Gabrg1 T C 5: 70,778,169 K214R probably benign Het
Galr2 A T 11: 116,283,170 T209S probably damaging Het
Gimap9 T C 6: 48,677,917 probably null Het
Gip C A 11: 96,025,459 F28L probably benign Het
Gpd2 A G 2: 57,364,530 N662S probably benign Het
Grik2 T G 10: 49,272,956 D511A probably damaging Het
Ift122 T A 6: 115,899,491 Y563N probably damaging Het
Ipo8 A G 6: 148,789,063 probably benign Het
Islr T C 9: 58,157,228 E332G probably damaging Het
Itgb7 G A 15: 102,227,585 S5L probably benign Het
Itpr2 G A 6: 146,345,161 R1087W probably damaging Het
Katnal2 C A 18: 77,017,554 V66F probably damaging Het
Krt81 T C 15: 101,461,019 D284G probably benign Het
Krtap4-8 T A 11: 99,780,005 probably benign Het
Map1s C A 8: 70,913,910 N486K probably benign Het
Med13l G A 5: 118,734,028 D842N probably damaging Het
Mef2c T A 13: 83,655,595 M306K probably damaging Het
Myb C T 10: 21,146,260 V377I probably benign Het
Myocd C T 11: 65,184,625 G558R possibly damaging Het
Nars G T 18: 64,504,968 A305E probably damaging Het
Neb A T 2: 52,196,361 N5233K probably benign Het
Nipsnap2 T C 5: 129,746,439 I181T possibly damaging Het
Olfr1496 T C 19: 13,781,573 probably benign Het
Olfr960 A T 9: 39,623,365 M81L probably benign Het
P3h2 A C 16: 25,987,248 C282G probably damaging Het
Pcgf5 T A 19: 36,442,868 C167S probably damaging Het
Pck2 T C 14: 55,544,069 probably benign Het
Peli2 C T 14: 48,252,730 R169* probably null Het
Pramef25 T A 4: 143,950,214 probably benign Het
Ralgapa2 T A 2: 146,421,739 Q686L possibly damaging Het
Scap C A 9: 110,362,420 P50H probably damaging Het
Sh3rf2 T A 18: 42,054,192 D125E possibly damaging Het
Slc25a38 T C 9: 120,116,494 probably benign Het
Slc35a5 A G 16: 45,143,832 V346A probably damaging Het
Smad4 T A 18: 73,675,809 N129I probably damaging Het
Sod2 C T 17: 13,013,577 A163V possibly damaging Het
Spred3 T A 7: 29,161,523 probably benign Het
Stag1 C A 9: 100,855,859 A423E possibly damaging Het
Stk17b A T 1: 53,761,037 S261T probably benign Het
Stx3 T C 19: 11,791,788 K58E probably damaging Het
Timm10b C A 7: 105,641,138 Y79* probably null Het
Tmem204 T C 17: 25,070,355 D97G probably damaging Het
Tnfrsf25 T C 4: 152,118,428 V181A probably benign Het
Trim54 T G 5: 31,136,958 S313A probably benign Het
Unc79 T A 12: 103,112,455 D1433E probably damaging Het
Vmn2r23 A G 6: 123,729,596 T462A probably benign Het
Wdr27 T A 17: 14,926,247 H162L probably damaging Het
Other mutations in Ccdc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01751:Ccdc7b APN 8 129136568 splice site probably benign
IGL02529:Ccdc7b APN 8 129178225 missense possibly damaging 0.92
IGL02596:Ccdc7b APN 8 129072478 missense probably benign 0.00
R0107:Ccdc7b UTSW 8 129178197 splice site probably benign
R0628:Ccdc7b UTSW 8 129111017 intron probably benign
R0709:Ccdc7b UTSW 8 129136646 missense probably benign 0.00
R1317:Ccdc7b UTSW 8 129136646 missense probably benign 0.00
R1594:Ccdc7b UTSW 8 129178357 missense possibly damaging 0.66
R2290:Ccdc7b UTSW 8 129131106 splice site probably benign
R4112:Ccdc7b UTSW 8 129085227 start gained probably benign
R4585:Ccdc7b UTSW 8 129110920 missense probably benign 0.06
R4586:Ccdc7b UTSW 8 129110920 missense probably benign 0.06
R4747:Ccdc7b UTSW 8 129178235 missense probably benign
R4978:Ccdc7b UTSW 8 129110207 critical splice donor site probably null
R4988:Ccdc7b UTSW 8 129145532 missense possibly damaging 0.53
R5470:Ccdc7b UTSW 8 129072600 missense possibly damaging 0.95
R5732:Ccdc7b UTSW 8 129072714 missense possibly damaging 0.71
R6590:Ccdc7b UTSW 8 129178219 missense probably benign 0.00
R6599:Ccdc7b UTSW 8 129166981 missense probably benign
R6690:Ccdc7b UTSW 8 129178219 missense probably benign 0.00
R6881:Ccdc7b UTSW 8 129072547 missense probably damaging 1.00
R7042:Ccdc7b UTSW 8 129085249 missense probably benign 0.00
R7728:Ccdc7b UTSW 8 129072690 missense unknown
R7891:Ccdc7b UTSW 8 129072665 missense unknown
R7974:Ccdc7b UTSW 8 129072665 missense unknown
Posted On2013-06-28