Incidental Mutation 'IGL02005:Cep57l1'
ID183167
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep57l1
Ensembl Gene ENSMUSG00000019813
Gene Namecentrosomal protein 57-like 1
Synonyms4930484D11Rik, 2410017P07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02005
Quality Score
Status
Chromosome10
Chromosomal Location41718840-41809871 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41740961 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 110 (D110G)
Ref Sequence ENSEMBL: ENSMUSP00000139509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019951] [ENSMUST00000105505] [ENSMUST00000186239] [ENSMUST00000187143] [ENSMUST00000189770] [ENSMUST00000190022] [ENSMUST00000191498]
Predicted Effect probably benign
Transcript: ENSMUST00000019951
AA Change: D110G

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: D110G

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 227 1.2e-64 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Cep57_MT_bd 283 356 2.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105505
AA Change: D110G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: D110G

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186239
AA Change: D110G

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: D110G

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 227 2.3e-72 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Cep57_MT_bd 281 356 1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187143
AA Change: D110G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: D110G

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189222
Predicted Effect probably benign
Transcript: ENSMUST00000189770
AA Change: D110G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: D110G

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190022
SMART Domains Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 45 151 6.6e-38 PFAM
low complexity region 158 169 N/A INTRINSIC
Pfam:Cep57_MT_bd 205 280 1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191498
AA Change: D110G

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: D110G

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 229 1.9e-65 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 90,058,620 D141G probably damaging Het
Ankhd1 T G 18: 36,648,426 L2177R probably damaging Het
Arhgap23 A T 11: 97,491,219 D1136V probably damaging Het
Atp6v1b1 A G 6: 83,753,914 probably benign Het
Atxn1 T C 13: 45,568,225 T65A probably benign Het
Bbs4 A G 9: 59,336,355 probably benign Het
Bms1 G A 6: 118,404,585 T664M probably damaging Het
Bod1l T C 5: 41,816,339 D2544G probably benign Het
Cdhr2 C T 13: 54,719,763 H469Y probably benign Het
Chd4 G A 6: 125,128,816 E1786K possibly damaging Het
Cltc T C 11: 86,730,219 K321E possibly damaging Het
Col6a2 T C 10: 76,610,173 D383G probably damaging Het
Crcp T G 5: 130,042,233 C58G probably benign Het
Ctc1 A G 11: 69,031,149 Y807C probably damaging Het
Eml4 T A 17: 83,477,703 probably benign Het
Glce A T 9: 62,060,577 L431I probably damaging Het
Glp1r C A 17: 30,924,611 T207K probably benign Het
Gm28042 G A 2: 120,034,634 V247I possibly damaging Het
Gm8989 G T 7: 106,329,420 F423L unknown Het
Hcrtr1 T A 4: 130,137,263 H76L probably benign Het
Hoxb13 G A 11: 96,194,609 G56D probably damaging Het
Hykk A G 9: 54,920,558 E27G possibly damaging Het
Kars A T 8: 112,000,104 L321* probably null Het
Klhl12 A T 1: 134,463,914 T95S possibly damaging Het
Klhl14 A T 18: 21,624,611 Y347* probably null Het
Kmt5b A G 19: 3,786,538 H25R possibly damaging Het
Krtap12-1 T A 10: 77,720,989 V122D probably damaging Het
Lrrc66 T C 5: 73,608,734 D322G possibly damaging Het
Lrrc8b T A 5: 105,481,054 V422D probably benign Het
Med12l T G 3: 59,244,947 M1051R probably damaging Het
Mmrn1 A G 6: 60,960,744 Y242C probably damaging Het
Ncf2 A T 1: 152,817,052 I107L possibly damaging Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pdlim4 T C 11: 54,059,984 D93G probably benign Het
Pgap1 C A 1: 54,551,055 A75S probably damaging Het
Pkd1 A G 17: 24,586,004 D3209G possibly damaging Het
Prcp T C 7: 92,927,824 S319P probably benign Het
Rasal2 G A 1: 157,156,998 Q1035* probably null Het
Ryr3 A T 2: 112,663,263 probably benign Het
Scaf8 T C 17: 3,185,870 I544T probably damaging Het
Svep1 A T 4: 58,069,056 V2910E possibly damaging Het
Tln2 C T 9: 67,392,505 R155Q possibly damaging Het
Trpm7 A T 2: 126,813,184 L1278H probably damaging Het
Tti2 G T 8: 31,155,830 G391C probably damaging Het
Ttn C T 2: 76,948,019 M1295I possibly damaging Het
Ttn T C 2: 76,723,969 probably benign Het
Vmn1r170 G A 7: 23,606,913 V247M probably damaging Het
Wdr48 T C 9: 119,905,389 Y125H probably damaging Het
Wdtc1 C T 4: 133,308,914 R105H probably benign Het
Zc3h11a A G 1: 133,622,142 S699P probably benign Het
Zkscan14 C T 5: 145,195,609 V371I probably benign Het
Zzef1 A T 11: 72,888,299 Y1862F probably benign Het
Other mutations in Cep57l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Cep57l1 APN 10 41721551 intron probably benign
IGL00679:Cep57l1 APN 10 41719800 nonsense probably null
IGL00839:Cep57l1 APN 10 41731093 missense probably damaging 1.00
IGL01013:Cep57l1 APN 10 41740869 nonsense probably null
IGL01479:Cep57l1 APN 10 41728639 missense possibly damaging 0.95
IGL01830:Cep57l1 APN 10 41728653 missense probably benign 0.03
IGL02679:Cep57l1 APN 10 41729386 missense probably damaging 1.00
IGL02697:Cep57l1 APN 10 41722954 missense possibly damaging 0.83
IGL03328:Cep57l1 APN 10 41743152 missense probably damaging 1.00
R2147:Cep57l1 UTSW 10 41740899 missense probably damaging 0.97
R3712:Cep57l1 UTSW 10 41743114 missense probably damaging 1.00
R4049:Cep57l1 UTSW 10 41729360 missense probably damaging 1.00
R4050:Cep57l1 UTSW 10 41729360 missense probably damaging 1.00
R4661:Cep57l1 UTSW 10 41719771 missense possibly damaging 0.91
R4764:Cep57l1 UTSW 10 41721682 missense possibly damaging 0.81
R4929:Cep57l1 UTSW 10 41745914 missense possibly damaging 0.93
R6058:Cep57l1 UTSW 10 41740922 missense possibly damaging 0.87
R6386:Cep57l1 UTSW 10 41743132 missense probably damaging 1.00
R6788:Cep57l1 UTSW 10 41743149 missense probably damaging 1.00
R7334:Cep57l1 UTSW 10 41721600 missense probably benign 0.00
R7724:Cep57l1 UTSW 10 41745842 missense possibly damaging 0.65
R7738:Cep57l1 UTSW 10 41740846 missense probably damaging 1.00
R7792:Cep57l1 UTSW 10 41722940 nonsense probably null
R8191:Cep57l1 UTSW 10 41740959 missense probably damaging 1.00
Posted On2014-05-07