Incidental Mutation 'IGL01759:Cep97'
ID153518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep97
Ensembl Gene ENSMUSG00000022604
Gene Namecentrosomal protein 97
Synonyms4932439K18Rik, E130116N02Rik, Lrriq2, 2810403B08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01759
Quality Score
Status
Chromosome16
Chromosomal Location55899888-55934855 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55930573 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 27 (K27E)
Ref Sequence ENSEMBL: ENSMUSP00000023270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023270] [ENSMUST00000117468] [ENSMUST00000118500] [ENSMUST00000121129] [ENSMUST00000121703] [ENSMUST00000122280]
Predicted Effect probably damaging
Transcript: ENSMUST00000023270
AA Change: K27E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: K27E

DomainStartEndE-ValueType
Pfam:LRR_9 98 259 1.8e-12 PFAM
IQ 549 571 2e-1 SMART
coiled coil region 576 609 N/A INTRINSIC
low complexity region 661 673 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
low complexity region 775 789 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117468
SMART Domains Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604

DomainStartEndE-ValueType
Pfam:LRR_9 7 187 4.1e-12 PFAM
Pfam:LRR_8 30 86 1e-7 PFAM
Pfam:LRR_4 52 94 3.6e-8 PFAM
Pfam:LRR_1 53 73 1.3e-2 PFAM
IQ 477 499 2e-1 SMART
coiled coil region 504 537 N/A INTRINSIC
low complexity region 589 601 N/A INTRINSIC
low complexity region 643 656 N/A INTRINSIC
low complexity region 703 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118500
SMART Domains Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604

DomainStartEndE-ValueType
Pfam:LRR_9 7 187 4.1e-12 PFAM
Pfam:LRR_8 30 86 1e-7 PFAM
Pfam:LRR_4 52 94 3.6e-8 PFAM
Pfam:LRR_1 53 73 1.3e-2 PFAM
IQ 477 499 2e-1 SMART
coiled coil region 504 537 N/A INTRINSIC
low complexity region 589 601 N/A INTRINSIC
low complexity region 643 656 N/A INTRINSIC
low complexity region 703 717 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121129
AA Change: K27E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112502
Gene: ENSMUSG00000022604
AA Change: K27E

DomainStartEndE-ValueType
Pfam:LRR_6 79 103 2.8e-2 PFAM
Pfam:LRR_4 80 122 4.4e-8 PFAM
Pfam:LRR_8 80 136 7.2e-10 PFAM
Pfam:LRR_8 102 152 8.5e-8 PFAM
Pfam:LRR_1 103 123 5.2e-2 PFAM
Pfam:LRR_6 123 153 5.6e-4 PFAM
Pfam:LRR_7 124 143 1.4e-1 PFAM
Pfam:LRR_1 125 148 1.2e-3 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121703
AA Change: K27E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113470
Gene: ENSMUSG00000022604
AA Change: K27E

DomainStartEndE-ValueType
Pfam:LRR_6 79 103 2.6e-2 PFAM
Pfam:LRR_4 80 122 4.1e-8 PFAM
Pfam:LRR_8 94 136 4.4e-8 PFAM
Pfam:LRR_1 103 123 4.9e-2 PFAM
Pfam:LRR_6 123 147 7e-4 PFAM
Pfam:LRR_7 124 143 1.3e-1 PFAM
Pfam:LRR_1 125 145 1.2e-3 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122280
AA Change: K27E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113009
Gene: ENSMUSG00000022604
AA Change: K27E

DomainStartEndE-ValueType
Pfam:LRR_6 79 103 2.7e-2 PFAM
Pfam:LRR_4 80 122 4.4e-8 PFAM
Pfam:LRR_8 94 136 4.5e-8 PFAM
Pfam:LRR_1 103 123 5.2e-2 PFAM
Pfam:LRR_6 123 147 8.1e-4 PFAM
Pfam:LRR_7 124 142 1.5e-1 PFAM
Pfam:LRR_1 125 152 1.1e-3 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,835,799 D150E probably damaging Het
Akr1c14 T A 13: 4,081,139 I277N probably damaging Het
Ap1b1 C T 11: 5,019,433 T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 V313L probably damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Car2 G A 3: 14,895,628 probably null Het
Cdh17 T A 4: 11,771,262 probably benign Het
Cep295 A G 9: 15,323,559 probably null Het
Cops5 A T 1: 10,027,249 N258K probably damaging Het
Dchs1 T A 7: 105,755,302 T2678S probably benign Het
Dnah10 T A 5: 124,755,786 F861Y probably benign Het
Dock10 T C 1: 80,526,273 E1777G probably damaging Het
Dock5 G A 14: 67,881,259 Q23* probably null Het
Ermp1 T C 19: 29,615,836 K752R probably benign Het
Fam160a1 A C 3: 85,688,447 I377S probably damaging Het
Gjd2 T A 2: 114,011,106 I297L probably benign Het
Gm1123 T C 9: 99,023,254 M68V probably benign Het
Gm28372 C T 2: 130,406,898 R59W probably damaging Het
Gm9912 A C 3: 149,185,438 F20V unknown Het
Gpat2 T C 2: 127,430,896 F176S possibly damaging Het
Gpr150 T C 13: 76,055,665 H387R possibly damaging Het
Gpr20 T A 15: 73,696,420 D40V probably damaging Het
Jakmip3 A T 7: 139,020,904 Q331L probably damaging Het
Kif5b A T 18: 6,211,019 probably benign Het
Kif5b A G 18: 6,225,647 V179A probably damaging Het
Krt14 A T 11: 100,204,416 probably benign Het
L3mbtl3 A G 10: 26,331,900 F307S unknown Het
Laptm4a T C 12: 8,934,687 probably benign Het
Marveld3 T C 8: 109,948,087 S366G possibly damaging Het
Mga C A 2: 119,951,195 T2234K possibly damaging Het
Mkrn2os T C 6: 115,592,331 N54S probably benign Het
Mras T C 9: 99,411,495 I31V probably damaging Het
Myh1 A G 11: 67,219,906 D1518G probably damaging Het
Myoz2 A T 3: 123,013,781 Y127N possibly damaging Het
Nhlrc1 C A 13: 47,013,962 W273L probably benign Het
Nol9 C T 4: 152,046,043 probably benign Het
Nrxn2 T C 19: 6,509,929 V1206A probably damaging Het
Olfr180 A T 16: 58,915,928 F238I probably damaging Het
Olfr523 T C 7: 140,176,534 I138T probably benign Het
Olfr694 T C 7: 106,689,333 T133A probably benign Het
Olfr774 T A 10: 129,239,072 F308I probably benign Het
Olfr971 T A 9: 39,839,611 M59K probably damaging Het
Pappa T C 4: 65,205,158 probably null Het
Pfkl A G 10: 78,000,731 S151P probably damaging Het
Pgbd5 C T 8: 124,384,379 G191D probably damaging Het
Pikfyve T C 1: 65,253,353 V1276A probably benign Het
Pla2g4c T A 7: 13,348,316 Y486N probably damaging Het
Rasal2 C A 1: 157,175,932 V386L probably benign Het
S1pr3 G A 13: 51,419,512 R243Q probably damaging Het
Slc44a4 A G 17: 34,921,243 D208G probably benign Het
Slc6a4 T C 11: 77,013,288 S190P probably damaging Het
Snapc5 A T 9: 64,180,497 probably null Het
Tbc1d14 C A 5: 36,571,569 R151L probably damaging Het
Tecpr2 T A 12: 110,931,392 probably benign Het
Tmem219 G A 7: 126,897,138 P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 R51G probably null Het
Ugp2 T C 11: 21,353,447 K53E probably benign Het
Vmn1r214 T C 13: 23,034,492 I52T probably benign Het
Vmn2r124 C T 17: 18,064,068 T457I probably benign Het
Vps13b A G 15: 35,878,789 E2978G probably damaging Het
Zfr A G 15: 12,159,655 D679G probably damaging Het
Zhx3 T C 2: 160,780,714 N511S probably damaging Het
Other mutations in Cep97
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Cep97 APN 16 55924960 splice site probably benign
IGL01142:Cep97 APN 16 55922198 missense probably damaging 1.00
IGL01383:Cep97 APN 16 55911607 missense probably damaging 1.00
IGL01529:Cep97 APN 16 55930618 splice site probably benign
IGL01693:Cep97 APN 16 55930594 missense probably damaging 1.00
IGL02085:Cep97 APN 16 55915505 missense probably damaging 1.00
IGL02135:Cep97 APN 16 55922967 missense probably damaging 1.00
IGL02582:Cep97 APN 16 55922176 missense probably damaging 1.00
IGL02631:Cep97 APN 16 55922178 nonsense probably null
IGL02899:Cep97 APN 16 55918540 missense probably damaging 0.98
IGL03086:Cep97 APN 16 55915296 missense probably benign
R0067:Cep97 UTSW 16 55915561 missense possibly damaging 0.96
R0067:Cep97 UTSW 16 55915561 missense possibly damaging 0.96
R0309:Cep97 UTSW 16 55925058 missense probably damaging 0.96
R0504:Cep97 UTSW 16 55905779 missense probably benign 0.00
R0507:Cep97 UTSW 16 55905882 splice site probably benign
R0508:Cep97 UTSW 16 55930606 missense probably benign 0.02
R0658:Cep97 UTSW 16 55914902 missense probably benign 0.09
R1588:Cep97 UTSW 16 55927821 missense probably damaging 1.00
R1619:Cep97 UTSW 16 55927796 missense probably damaging 1.00
R1710:Cep97 UTSW 16 55915022 missense probably damaging 0.99
R1872:Cep97 UTSW 16 55927866 missense probably damaging 1.00
R1878:Cep97 UTSW 16 55905226 missense probably damaging 1.00
R1896:Cep97 UTSW 16 55927744 missense probably damaging 1.00
R5401:Cep97 UTSW 16 55924952 missense probably benign 0.03
R5520:Cep97 UTSW 16 55915296 missense probably benign
R5627:Cep97 UTSW 16 55924967 critical splice donor site probably null
R5632:Cep97 UTSW 16 55915583 missense probably benign 0.02
R5903:Cep97 UTSW 16 55919526 missense probably damaging 1.00
R5914:Cep97 UTSW 16 55905457 missense probably benign 0.02
R6185:Cep97 UTSW 16 55915092 missense probably benign
R6381:Cep97 UTSW 16 55922171 missense probably damaging 1.00
R7041:Cep97 UTSW 16 55905754 missense probably benign
R7056:Cep97 UTSW 16 55905572 missense probably damaging 1.00
R7371:Cep97 UTSW 16 55905320 missense probably benign 0.00
R7862:Cep97 UTSW 16 55905721 missense probably benign 0.26
R7951:Cep97 UTSW 16 55905457 missense probably benign 0.02
R8042:Cep97 UTSW 16 55911602 missense probably benign
R8337:Cep97 UTSW 16 55915031 nonsense probably null
Z1176:Cep97 UTSW 16 55927735 missense probably damaging 1.00
Posted On2014-02-04