Incidental Mutation 'IGL02975:Cntrob'
ID 406318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cntrob
Ensembl Gene ENSMUSG00000032782
Gene Name centrobin, centrosomal BRCA2 interacting protein
Synonyms Nip2, 9830165K03Rik, Lip8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # IGL02975
Quality Score
Status
Chromosome 11
Chromosomal Location 69190313-69214601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69210199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 265 (T265A)
Ref Sequence ENSEMBL: ENSMUSP00000090651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060956] [ENSMUST00000092973] [ENSMUST00000102601] [ENSMUST00000102602] [ENSMUST00000108662] [ENSMUST00000123176]
AlphaFold Q8CB62
Predicted Effect probably benign
Transcript: ENSMUST00000060956
SMART Domains Protein: ENSMUSP00000050153
Gene: ENSMUSG00000049299

DomainStartEndE-ValueType
Pfam:Sybindin 3 109 2.2e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000092973
AA Change: T265A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: T265A

DomainStartEndE-ValueType
coiled coil region 191 218 N/A INTRINSIC
coiled coil region 249 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102601
SMART Domains Protein: ENSMUSP00000099661
Gene: ENSMUSG00000049299

DomainStartEndE-ValueType
Pfam:Sybindin 3 137 1.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102602
SMART Domains Protein: ENSMUSP00000099662
Gene: ENSMUSG00000049299

DomainStartEndE-ValueType
Pfam:Sybindin 3 137 1.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108662
SMART Domains Protein: ENSMUSP00000104302
Gene: ENSMUSG00000049299

DomainStartEndE-ValueType
Pfam:Sybindin 3 127 2.2e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123176
Predicted Effect unknown
Transcript: ENSMUST00000176938
AA Change: T32A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125777
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,381,784 (GRCm39) D326G possibly damaging Het
Abtb3 A G 10: 85,467,207 (GRCm39) I721V probably benign Het
Ago4 C T 4: 126,406,312 (GRCm39) probably null Het
Ank A G 15: 27,467,087 (GRCm39) probably benign Het
Ankmy2 C A 12: 36,243,773 (GRCm39) S329R possibly damaging Het
Aox1 A G 1: 58,107,550 (GRCm39) E608G probably damaging Het
Car1 G A 3: 14,842,882 (GRCm39) L48F probably benign Het
Cct8 A G 16: 87,283,118 (GRCm39) probably benign Het
Clasp1 A T 1: 118,390,277 (GRCm39) T154S probably damaging Het
Clca4a A C 3: 144,669,530 (GRCm39) I340M possibly damaging Het
Cnksr3 C T 10: 7,088,354 (GRCm39) probably null Het
Ddx5 T C 11: 106,672,711 (GRCm39) I605V probably benign Het
Eif3i A G 4: 129,489,105 (GRCm39) Y70H probably damaging Het
Epb41l5 T C 1: 119,506,811 (GRCm39) probably benign Het
Fah A T 7: 84,250,287 (GRCm39) S90T probably benign Het
Fat2 T A 11: 55,161,020 (GRCm39) M3237L probably benign Het
Fbxw8 A G 5: 118,215,760 (GRCm39) Y417H probably benign Het
Fmnl2 C A 2: 52,991,494 (GRCm39) F336L probably benign Het
Gli3 A G 13: 15,899,153 (GRCm39) R847G probably damaging Het
Gm17509 T C 13: 117,357,308 (GRCm39) probably benign Het
Gm4846 T A 1: 166,311,449 (GRCm39) Y470F possibly damaging Het
Gm7461 T C 8: 4,727,847 (GRCm39) noncoding transcript Het
Gpatch4 A T 3: 87,961,743 (GRCm39) N134I possibly damaging Het
Grina A G 15: 76,133,185 (GRCm39) Y251C probably damaging Het
Gsn A G 2: 35,194,666 (GRCm39) D654G probably benign Het
Hyal5 A G 6: 24,891,451 (GRCm39) T422A probably benign Het
Iars1 T A 13: 49,858,325 (GRCm39) I377N probably damaging Het
Ints3 A T 3: 90,309,144 (GRCm39) probably benign Het
Kdm4b G A 17: 56,682,996 (GRCm39) probably null Het
Kyat1 A G 2: 30,076,687 (GRCm39) S276P probably damaging Het
Lrrc1 A G 9: 77,359,929 (GRCm39) C288R probably damaging Het
Mst1r T A 9: 107,790,379 (GRCm39) M664K probably benign Het
Neb A T 2: 52,188,879 (GRCm39) I817N probably damaging Het
Nudt6 C A 3: 37,473,667 (GRCm39) G18V probably damaging Het
Or10a49 G A 7: 108,468,062 (GRCm39) Q100* probably null Het
Or4k52 T A 2: 111,611,266 (GRCm39) Y200* probably null Het
Or7a41 T C 10: 78,870,867 (GRCm39) V79A possibly damaging Het
Pde1c A G 6: 56,135,921 (GRCm39) I341T probably damaging Het
Pgm5 T C 19: 24,812,212 (GRCm39) I107V probably benign Het
Pot1b G A 17: 55,969,454 (GRCm39) probably benign Het
Prkca C T 11: 108,231,503 (GRCm39) W58* probably null Het
Slc12a9 T C 5: 137,320,705 (GRCm39) K555R probably damaging Het
Smoc2 A T 17: 14,556,872 (GRCm39) Q107L probably damaging Het
Sytl1 T A 4: 132,988,343 (GRCm39) R4S probably benign Het
Tbc1d4 A G 14: 101,695,549 (GRCm39) L963P probably damaging Het
Tfdp2 G A 9: 96,199,989 (GRCm39) probably benign Het
Tmem63a A T 1: 180,788,640 (GRCm39) M326L probably benign Het
Vmn2r66 A G 7: 84,656,182 (GRCm39) L278P probably damaging Het
Wtap A G 17: 13,202,398 (GRCm39) V11A possibly damaging Het
Zcchc9 A T 13: 91,954,172 (GRCm39) S28T possibly damaging Het
Zfp12 C T 5: 143,229,814 (GRCm39) probably benign Het
Other mutations in Cntrob
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03173:Cntrob APN 11 69,200,853 (GRCm39) missense possibly damaging 0.90
groats UTSW 11 69,200,317 (GRCm39) nonsense probably null
BB005:Cntrob UTSW 11 69,191,121 (GRCm39) missense probably damaging 0.97
BB015:Cntrob UTSW 11 69,191,121 (GRCm39) missense probably damaging 0.97
R0270:Cntrob UTSW 11 69,202,167 (GRCm39) missense possibly damaging 0.66
R0501:Cntrob UTSW 11 69,213,694 (GRCm39) missense probably damaging 1.00
R1749:Cntrob UTSW 11 69,213,700 (GRCm39) missense probably damaging 0.99
R1775:Cntrob UTSW 11 69,211,693 (GRCm39) missense possibly damaging 0.90
R1900:Cntrob UTSW 11 69,198,880 (GRCm39) missense probably benign 0.27
R1967:Cntrob UTSW 11 69,211,789 (GRCm39) missense probably damaging 0.97
R2495:Cntrob UTSW 11 69,213,749 (GRCm39) missense probably damaging 0.96
R3121:Cntrob UTSW 11 69,213,526 (GRCm39) nonsense probably null
R3780:Cntrob UTSW 11 69,193,708 (GRCm39) missense probably damaging 0.97
R4449:Cntrob UTSW 11 69,196,375 (GRCm39) missense probably benign 0.29
R4696:Cntrob UTSW 11 69,211,714 (GRCm39) missense probably damaging 1.00
R4841:Cntrob UTSW 11 69,206,220 (GRCm39) missense possibly damaging 0.92
R4842:Cntrob UTSW 11 69,206,220 (GRCm39) missense possibly damaging 0.92
R4908:Cntrob UTSW 11 69,211,732 (GRCm39) missense probably damaging 0.97
R4982:Cntrob UTSW 11 69,202,188 (GRCm39) splice site probably null
R5168:Cntrob UTSW 11 69,190,816 (GRCm39) missense possibly damaging 0.66
R5187:Cntrob UTSW 11 69,212,717 (GRCm39) missense possibly damaging 0.62
R5307:Cntrob UTSW 11 69,205,576 (GRCm39) missense possibly damaging 0.66
R5473:Cntrob UTSW 11 69,213,579 (GRCm39) missense possibly damaging 0.81
R5903:Cntrob UTSW 11 69,200,201 (GRCm39) missense possibly damaging 0.83
R6643:Cntrob UTSW 11 69,202,248 (GRCm39) missense possibly damaging 0.46
R6742:Cntrob UTSW 11 69,213,749 (GRCm39) missense probably damaging 0.96
R6964:Cntrob UTSW 11 69,200,317 (GRCm39) nonsense probably null
R7020:Cntrob UTSW 11 69,193,918 (GRCm39) critical splice donor site probably null
R7425:Cntrob UTSW 11 69,205,560 (GRCm39) nonsense probably null
R7928:Cntrob UTSW 11 69,191,121 (GRCm39) missense probably damaging 0.97
R7946:Cntrob UTSW 11 69,206,047 (GRCm39) missense possibly damaging 0.82
R8348:Cntrob UTSW 11 69,190,679 (GRCm39) missense unknown
R8448:Cntrob UTSW 11 69,190,679 (GRCm39) missense unknown
R8539:Cntrob UTSW 11 69,211,652 (GRCm39) missense possibly damaging 0.94
R9259:Cntrob UTSW 11 69,211,665 (GRCm39) missense possibly damaging 0.81
R9415:Cntrob UTSW 11 69,193,741 (GRCm39) missense possibly damaging 0.66
R9553:Cntrob UTSW 11 69,205,679 (GRCm39) missense probably benign 0.00
R9626:Cntrob UTSW 11 69,202,167 (GRCm39) missense possibly damaging 0.66
R9628:Cntrob UTSW 11 69,213,782 (GRCm39) missense possibly damaging 0.66
R9801:Cntrob UTSW 11 69,212,233 (GRCm39) missense possibly damaging 0.82
Z1177:Cntrob UTSW 11 69,202,275 (GRCm39) missense possibly damaging 0.66
Z1186:Cntrob UTSW 11 69,198,882 (GRCm39) missense probably benign 0.23
Z1186:Cntrob UTSW 11 69,196,404 (GRCm39) missense probably benign
Z1187:Cntrob UTSW 11 69,198,882 (GRCm39) missense probably benign 0.23
Z1187:Cntrob UTSW 11 69,196,404 (GRCm39) missense probably benign
Z1188:Cntrob UTSW 11 69,198,882 (GRCm39) missense probably benign 0.23
Z1188:Cntrob UTSW 11 69,196,404 (GRCm39) missense probably benign
Z1189:Cntrob UTSW 11 69,198,882 (GRCm39) missense probably benign 0.23
Z1189:Cntrob UTSW 11 69,196,404 (GRCm39) missense probably benign
Z1190:Cntrob UTSW 11 69,198,882 (GRCm39) missense probably benign 0.23
Z1190:Cntrob UTSW 11 69,196,404 (GRCm39) missense probably benign
Z1191:Cntrob UTSW 11 69,198,882 (GRCm39) missense probably benign 0.23
Z1191:Cntrob UTSW 11 69,196,404 (GRCm39) missense probably benign
Z1192:Cntrob UTSW 11 69,198,882 (GRCm39) missense probably benign 0.23
Z1192:Cntrob UTSW 11 69,196,404 (GRCm39) missense probably benign
Posted On 2016-08-02