Incidental Mutation 'IGL02582:Cep97'
ID 299393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep97
Ensembl Gene ENSMUSG00000022604
Gene Name centrosomal protein 97
Synonyms Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02582
Quality Score
Status
Chromosome 16
Chromosomal Location 55720251-55755218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55742539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 136 (V136A)
Ref Sequence ENSEMBL: ENSMUSP00000112663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023270] [ENSMUST00000117468] [ENSMUST00000118500] [ENSMUST00000121129] [ENSMUST00000121703] [ENSMUST00000122280]
AlphaFold Q9CZ62
Predicted Effect probably damaging
Transcript: ENSMUST00000023270
AA Change: V208A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: V208A

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 damaging
Transcript: ENSMUST00000117468
AA Change: V136A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: V136A

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: ENSMUST00000118500
AA Change: V136A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: V136A

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: ENSMUST00000121129
SMART Domains Protein: ENSMUSP00000112502
Gene: ENSMUSG00000022604

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 benign
Transcript: ENSMUST00000121703
SMART Domains Protein: ENSMUSP00000113470
Gene: ENSMUSG00000022604

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 benign
Transcript: ENSMUST00000122280
SMART Domains Protein: ENSMUSP00000113009
Gene: ENSMUSG00000022604

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,506,045 (GRCm39) I92F probably benign Het
Actr3b A G 5: 26,037,411 (GRCm39) I208V probably benign Het
Car12 T C 9: 66,621,159 (GRCm39) V10A probably benign Het
Ccdc171 C A 4: 83,661,255 (GRCm39) R1122S probably damaging Het
Cilp2 G T 8: 70,333,936 (GRCm39) Q1021K probably damaging Het
Col24a1 C A 3: 145,020,247 (GRCm39) T206N probably damaging Het
Crebbp A T 16: 3,902,141 (GRCm39) I2328K possibly damaging Het
Ctns A G 11: 73,087,478 (GRCm39) F16S probably benign Het
Dbf4 T C 5: 8,453,172 (GRCm39) K276E probably benign Het
Dnase2b T A 3: 146,294,840 (GRCm39) Q118L probably benign Het
Elf1 T C 14: 79,773,819 (GRCm39) L10P probably damaging Het
Exosc5 T C 7: 25,364,988 (GRCm39) probably null Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fam180a G T 6: 35,290,647 (GRCm39) A112E possibly damaging Het
Fam3b A T 16: 97,272,391 (GRCm39) Y89* probably null Het
Gcg C T 2: 62,308,922 (GRCm39) W77* probably null Het
Gm17472 G A 6: 42,957,832 (GRCm39) V34I possibly damaging Het
Klhl23 T A 2: 69,654,582 (GRCm39) C151S probably damaging Het
Mdh1b T A 1: 63,758,756 (GRCm39) I279F probably benign Het
Mfsd11 T A 11: 116,764,701 (GRCm39) I375N probably damaging Het
Mroh2b T A 15: 4,937,997 (GRCm39) I206N probably damaging Het
Myo1b T C 1: 51,821,133 (GRCm39) E456G possibly damaging Het
Nat8 G A 6: 85,807,783 (GRCm39) Q117* probably null Het
Nlrp4g A C 9: 124,349,764 (GRCm38) noncoding transcript Het
Nmt1 G T 11: 102,955,625 (GRCm39) G468C possibly damaging Het
Nobox G T 6: 43,281,973 (GRCm39) Q367K possibly damaging Het
Nusap1 A G 2: 119,479,470 (GRCm39) *428W probably null Het
Or12j4 T C 7: 140,046,560 (GRCm39) F149L probably benign Het
Or4c126 G A 2: 89,824,656 (GRCm39) M306I probably benign Het
Pbp2 T C 6: 135,287,147 (GRCm39) I67V probably benign Het
Pcdhb8 T G 18: 37,488,427 (GRCm39) M35R possibly damaging Het
Pkp1 T C 1: 135,817,664 (GRCm39) E157G probably damaging Het
Pomgnt1 C T 4: 116,015,747 (GRCm39) L560F probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Ptprd T A 4: 75,865,361 (GRCm39) R1446S probably damaging Het
Ptprq T C 10: 107,479,860 (GRCm39) T1137A probably benign Het
Sec22c T C 9: 121,514,630 (GRCm39) I153V probably benign Het
Slc30a5 C T 13: 100,949,155 (GRCm39) probably null Het
Smcr8 T C 11: 60,669,721 (GRCm39) S290P probably benign Het
Stambpl1 T G 19: 34,212,612 (GRCm39) L261V probably benign Het
Stk38l T C 6: 146,668,321 (GRCm39) probably null Het
Themis T C 10: 28,637,543 (GRCm39) F216L probably benign Het
Trmt1l T C 1: 151,309,536 (GRCm39) probably benign Het
Usp17lb C A 7: 104,489,937 (GRCm39) C330F probably damaging Het
Vmn2r120 A T 17: 57,831,724 (GRCm39) L355H probably damaging Het
Zc3h7b T A 15: 81,653,341 (GRCm39) C82S probably benign Het
Other mutations in Cep97
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Cep97 APN 16 55,745,323 (GRCm39) splice site probably benign
IGL01142:Cep97 APN 16 55,742,561 (GRCm39) missense probably damaging 1.00
IGL01383:Cep97 APN 16 55,731,970 (GRCm39) missense probably damaging 1.00
IGL01529:Cep97 APN 16 55,750,981 (GRCm39) splice site probably benign
IGL01693:Cep97 APN 16 55,750,957 (GRCm39) missense probably damaging 1.00
IGL01759:Cep97 APN 16 55,750,936 (GRCm39) missense probably damaging 1.00
IGL02085:Cep97 APN 16 55,735,868 (GRCm39) missense probably damaging 1.00
IGL02135:Cep97 APN 16 55,743,330 (GRCm39) missense probably damaging 1.00
IGL02631:Cep97 APN 16 55,742,541 (GRCm39) nonsense probably null
IGL02899:Cep97 APN 16 55,738,903 (GRCm39) missense probably damaging 0.98
IGL03086:Cep97 APN 16 55,735,659 (GRCm39) missense probably benign
R0067:Cep97 UTSW 16 55,735,924 (GRCm39) missense possibly damaging 0.96
R0067:Cep97 UTSW 16 55,735,924 (GRCm39) missense possibly damaging 0.96
R0309:Cep97 UTSW 16 55,745,421 (GRCm39) missense probably damaging 0.96
R0504:Cep97 UTSW 16 55,726,142 (GRCm39) missense probably benign 0.00
R0507:Cep97 UTSW 16 55,726,245 (GRCm39) splice site probably benign
R0508:Cep97 UTSW 16 55,750,969 (GRCm39) missense probably benign 0.02
R0658:Cep97 UTSW 16 55,735,265 (GRCm39) missense probably benign 0.09
R1588:Cep97 UTSW 16 55,748,184 (GRCm39) missense probably damaging 1.00
R1619:Cep97 UTSW 16 55,748,159 (GRCm39) missense probably damaging 1.00
R1710:Cep97 UTSW 16 55,735,385 (GRCm39) missense probably damaging 0.99
R1872:Cep97 UTSW 16 55,748,229 (GRCm39) missense probably damaging 1.00
R1878:Cep97 UTSW 16 55,725,589 (GRCm39) missense probably damaging 1.00
R1896:Cep97 UTSW 16 55,748,107 (GRCm39) missense probably damaging 1.00
R5401:Cep97 UTSW 16 55,745,315 (GRCm39) missense probably benign 0.03
R5520:Cep97 UTSW 16 55,735,659 (GRCm39) missense probably benign
R5627:Cep97 UTSW 16 55,745,330 (GRCm39) critical splice donor site probably null
R5632:Cep97 UTSW 16 55,735,946 (GRCm39) missense probably benign 0.02
R5903:Cep97 UTSW 16 55,739,889 (GRCm39) missense probably damaging 1.00
R5914:Cep97 UTSW 16 55,725,820 (GRCm39) missense probably benign 0.02
R6185:Cep97 UTSW 16 55,735,455 (GRCm39) missense probably benign
R6381:Cep97 UTSW 16 55,742,534 (GRCm39) missense probably damaging 1.00
R7041:Cep97 UTSW 16 55,726,117 (GRCm39) missense probably benign
R7056:Cep97 UTSW 16 55,725,935 (GRCm39) missense probably damaging 1.00
R7371:Cep97 UTSW 16 55,725,683 (GRCm39) missense probably benign 0.00
R7862:Cep97 UTSW 16 55,726,084 (GRCm39) missense probably benign 0.26
R7951:Cep97 UTSW 16 55,725,820 (GRCm39) missense probably benign 0.02
R8042:Cep97 UTSW 16 55,731,965 (GRCm39) missense probably benign
R8337:Cep97 UTSW 16 55,735,394 (GRCm39) nonsense probably null
R8782:Cep97 UTSW 16 55,726,084 (GRCm39) missense probably benign 0.26
R8876:Cep97 UTSW 16 55,742,467 (GRCm39) missense possibly damaging 0.55
R9028:Cep97 UTSW 16 55,739,915 (GRCm39) nonsense probably null
R9514:Cep97 UTSW 16 55,726,093 (GRCm39) missense probably benign 0.01
R9544:Cep97 UTSW 16 55,735,303 (GRCm39) missense possibly damaging 0.86
Z1176:Cep97 UTSW 16 55,748,098 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16