Incidental Mutation 'IGL00858:Ccser1'
ID10652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccser1
Ensembl Gene ENSMUSG00000039578
Gene Namecoiled-coil serine rich 1
Synonyms6230405M12Rik, C130092O11Rik, Fam190a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL00858
Quality Score
Status
Chromosome6
Chromosomal Location61180324-62382865 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 61810665 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 134 (S134*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045522] [ENSMUST00000067307] [ENSMUST00000126214]
Predicted Effect probably null
Transcript: ENSMUST00000045522
AA Change: S706*
SMART Domains Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: S706*

DomainStartEndE-ValueType
low complexity region 28 36 N/A INTRINSIC
low complexity region 43 61 N/A INTRINSIC
low complexity region 435 446 N/A INTRINSIC
low complexity region 510 525 N/A INTRINSIC
low complexity region 645 659 N/A INTRINSIC
coiled coil region 674 703 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000067307
AA Change: S194*
SMART Domains Protein: ENSMUSP00000067639
Gene: ENSMUSG00000039578
AA Change: S194*

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
coiled coil region 162 191 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000126214
AA Change: S706*
SMART Domains Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: S706*

DomainStartEndE-ValueType
low complexity region 28 36 N/A INTRINSIC
low complexity region 43 61 N/A INTRINSIC
low complexity region 435 446 N/A INTRINSIC
low complexity region 510 525 N/A INTRINSIC
low complexity region 645 659 N/A INTRINSIC
coiled coil region 674 703 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000134710
AA Change: S134*
SMART Domains Protein: ENSMUSP00000122633
Gene: ENSMUSG00000039578
AA Change: S134*

DomainStartEndE-ValueType
low complexity region 74 88 N/A INTRINSIC
coiled coil region 102 131 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203850
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 122,173,888 V988M probably damaging Het
Afap1l1 G A 18: 61,736,854 T635M probably benign Het
B4galnt1 A G 10: 127,167,764 T199A probably benign Het
Ccdc105 T C 10: 78,750,569 D216G probably damaging Het
Ccdc183 T A 2: 25,609,771 M378L probably benign Het
Cluh A G 11: 74,659,605 K248E possibly damaging Het
Cpa6 T A 1: 10,483,994 R129S probably damaging Het
Cyp2c29 T A 19: 39,307,656 V138D probably damaging Het
Cyp4f14 A G 17: 32,911,718 probably benign Het
Dock10 T C 1: 80,568,003 N841S possibly damaging Het
Dtwd2 A T 18: 49,728,385 I98N probably damaging Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Ifi44 T A 3: 151,749,580 M3L probably benign Het
Mtch1 C T 17: 29,340,456 D74N probably damaging Het
Nav3 A G 10: 109,742,632 V1588A probably damaging Het
Pbk T C 14: 65,811,924 probably benign Het
Ptcd1 A T 5: 145,151,282 probably benign Het
Rapgef4 A T 2: 72,198,897 I438F probably damaging Het
Tas2r113 C A 6: 132,893,152 R48S probably benign Het
Tnn C T 1: 160,088,392 probably null Het
Tnnt2 G A 1: 135,851,702 V277I probably damaging Het
Twnk G T 19: 45,007,626 W166L probably benign Het
Utp20 G A 10: 88,809,125 L580F possibly damaging Het
Utp20 T A 10: 88,809,138 E575D probably benign Het
Other mutations in Ccser1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Ccser1 APN 6 62380142 missense possibly damaging 0.80
IGL01012:Ccser1 APN 6 61638490 missense probably benign 0.01
IGL01391:Ccser1 APN 6 61638521 splice site probably benign
IGL01643:Ccser1 APN 6 61311855 missense probably benign 0.01
IGL01767:Ccser1 APN 6 61718152 missense probably benign 0.03
IGL02081:Ccser1 APN 6 61311168 nonsense probably null
IGL02152:Ccser1 APN 6 61311708 missense possibly damaging 0.57
IGL02870:Ccser1 APN 6 61311292 missense probably damaging 0.99
IGL02890:Ccser1 APN 6 62379831 missense probably damaging 0.99
IGL03147:Ccser1 UTSW 6 61312160 missense probably benign 0.02
R0020:Ccser1 UTSW 6 61313804 missense possibly damaging 0.62
R0831:Ccser1 UTSW 6 61423061 missense probably damaging 0.99
R1306:Ccser1 UTSW 6 62380106 missense probably damaging 0.99
R1441:Ccser1 UTSW 6 62380032 missense probably benign 0.00
R1650:Ccser1 UTSW 6 61638490 missense probably benign 0.01
R1653:Ccser1 UTSW 6 61311465 missense probably benign 0.00
R1913:Ccser1 UTSW 6 62379894 missense probably damaging 0.99
R1961:Ccser1 UTSW 6 61313646 splice site probably benign
R2030:Ccser1 UTSW 6 61311563 missense probably benign
R2056:Ccser1 UTSW 6 61422952 splice site probably null
R2268:Ccser1 UTSW 6 61570843 missense probably damaging 1.00
R2280:Ccser1 UTSW 6 61570815 missense probably damaging 1.00
R2281:Ccser1 UTSW 6 61570815 missense probably damaging 1.00
R2571:Ccser1 UTSW 6 61422960 missense probably damaging 1.00
R4606:Ccser1 UTSW 6 61311584 missense probably damaging 0.99
R4711:Ccser1 UTSW 6 61311926 missense possibly damaging 0.74
R4770:Ccser1 UTSW 6 61311501 missense possibly damaging 0.85
R4932:Ccser1 UTSW 6 61718191 missense possibly damaging 0.78
R5078:Ccser1 UTSW 6 61311366 missense probably damaging 0.97
R5097:Ccser1 UTSW 6 61312160 missense probably benign 0.02
R5221:Ccser1 UTSW 6 61312091 missense probably damaging 0.99
R5378:Ccser1 UTSW 6 61311666 missense probably benign 0.00
R5604:Ccser1 UTSW 6 61313804 missense probably damaging 0.97
R5700:Ccser1 UTSW 6 61311276 missense probably benign 0.00
R5970:Ccser1 UTSW 6 61311242 missense possibly damaging 0.94
R6257:Ccser1 UTSW 6 61373962 missense probably damaging 0.96
R6257:Ccser1 UTSW 6 62379785 missense probably benign
R6375:Ccser1 UTSW 6 61311168 nonsense probably null
R6703:Ccser1 UTSW 6 61638511 nonsense probably null
R6930:Ccser1 UTSW 6 62380025 missense probably benign 0.03
R7256:Ccser1 UTSW 6 61311867 missense probably benign 0.38
R7362:Ccser1 UTSW 6 61810880 missense unknown
R7508:Ccser1 UTSW 6 61570723 missense probably benign 0.05
R7532:Ccser1 UTSW 6 62379931 nonsense probably null
R7533:Ccser1 UTSW 6 61638490 missense probably benign 0.25
R7729:Ccser1 UTSW 6 61311856 missense probably benign
R7875:Ccser1 UTSW 6 61311948 missense probably benign 0.06
R7958:Ccser1 UTSW 6 61311948 missense probably benign 0.06
R8055:Ccser1 UTSW 6 61313773 missense possibly damaging 0.47
Posted On2012-12-06