Incidental Mutation 'IGL01619:Terb1'
ID 92482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Terb1
Ensembl Gene ENSMUSG00000052616
Gene Name telomere repeat binding bouquet formation protein 1
Synonyms Ccdc79, 4930532D21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01619
Quality Score
Status
Chromosome 8
Chromosomal Location 105173351-105236542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105199646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 433 (H433Y)
Ref Sequence ENSEMBL: ENSMUSP00000067324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064576] [ENSMUST00000159713] [ENSMUST00000161520]
AlphaFold Q8C0V1
PDB Structure Solution structures of the myb-like DNA binding domain of 4930532D21Rik protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000064576
AA Change: H433Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: H433Y

DomainStartEndE-ValueType
SCOP:d1ee4a_ 2 368 7e-11 SMART
low complexity region 416 428 N/A INTRINSIC
low complexity region 536 545 N/A INTRINSIC
SANT 711 762 7.07e-5 SMART
Predicted Effect unknown
Transcript: ENSMUST00000159713
AA Change: T338I
SMART Domains Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616
AA Change: T338I

DomainStartEndE-ValueType
SCOP:d1qgra_ 10 335 6e-7 SMART
Predicted Effect unknown
Transcript: ENSMUST00000161520
AA Change: T339I
SMART Domains Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616
AA Change: T339I

DomainStartEndE-ValueType
SCOP:d1qgra_ 10 336 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162014
SMART Domains Protein: ENSMUSP00000123925
Gene: ENSMUSG00000052616

DomainStartEndE-ValueType
SCOP:d1jdha_ 21 370 7e-8 SMART
low complexity region 382 394 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
low complexity region 688 695 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male and female mice homozygous for a null allele are infertile with arrest of meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd46 T C 15: 36,486,113 (GRCm39) T47A possibly damaging Het
Asxl3 T G 18: 22,656,385 (GRCm39) V1465G probably damaging Het
Celsr3 A T 9: 108,711,756 (GRCm39) D1657V probably damaging Het
Celsr3 A G 9: 108,714,603 (GRCm39) H1995R probably benign Het
Cimip2b G A 4: 43,427,814 (GRCm39) T170I possibly damaging Het
Cntn6 G A 6: 104,705,335 (GRCm39) probably benign Het
Def6 C T 17: 28,426,838 (GRCm39) L8F probably damaging Het
Dnah9 T A 11: 65,722,441 (GRCm39) K1940* probably null Het
Dock10 A G 1: 80,612,015 (GRCm39) probably benign Het
Fam72a A G 1: 131,461,650 (GRCm39) I112V probably benign Het
Fgl1 A T 8: 41,650,008 (GRCm39) W258R probably damaging Het
Ints6l G T X: 55,542,104 (GRCm39) probably benign Het
Lifr A T 15: 7,220,643 (GRCm39) N1091I probably damaging Het
Mga T C 2: 119,762,309 (GRCm39) I1100T possibly damaging Het
Mrpl40 T A 16: 18,691,294 (GRCm39) M139L probably benign Het
Myom1 T C 17: 71,351,471 (GRCm39) probably benign Het
Or2m12 T A 16: 19,104,909 (GRCm39) T195S probably damaging Het
Pcdhb5 T C 18: 37,455,992 (GRCm39) F791L probably damaging Het
Prss29 T C 17: 25,540,113 (GRCm39) probably null Het
Ranbp2 A G 10: 58,299,900 (GRCm39) probably null Het
Serpinb9e A G 13: 33,439,108 (GRCm39) K178R probably damaging Het
Shtn1 A G 19: 59,016,601 (GRCm39) S233P probably damaging Het
Smpd1 G A 7: 105,204,549 (GRCm39) V143M possibly damaging Het
Traf6 C T 2: 101,520,443 (GRCm39) Q164* probably null Het
Trip12 C A 1: 84,792,631 (GRCm39) R4L probably damaging Het
Ttn G A 2: 76,693,879 (GRCm39) P208S possibly damaging Het
Ube2c T C 2: 164,613,232 (GRCm39) I50T probably damaging Het
Uggt1 T C 1: 36,200,775 (GRCm39) D1174G probably damaging Het
Vmn2r121 T G X: 123,041,997 (GRCm39) M387L probably benign Het
Vmn2r18 T A 5: 151,510,229 (GRCm39) N48I probably benign Het
Zc3h15 T C 2: 83,490,517 (GRCm39) L217P probably damaging Het
Zyg11a T A 4: 108,062,414 (GRCm39) E129V probably damaging Het
Other mutations in Terb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Terb1 APN 8 105,178,439 (GRCm39) missense probably benign 0.09
IGL01468:Terb1 APN 8 105,208,799 (GRCm39) intron probably benign
IGL01631:Terb1 APN 8 105,199,496 (GRCm39) missense probably damaging 0.99
IGL02041:Terb1 APN 8 105,221,746 (GRCm39) missense probably damaging 1.00
IGL02413:Terb1 APN 8 105,221,500 (GRCm39) critical splice donor site probably null
IGL02974:Terb1 APN 8 105,221,600 (GRCm39) nonsense probably null
IGL03091:Terb1 APN 8 105,195,786 (GRCm39) missense probably benign 0.03
IGL03410:Terb1 APN 8 105,199,674 (GRCm39) splice site probably benign
R0825:Terb1 UTSW 8 105,195,380 (GRCm39) missense possibly damaging 0.65
R0906:Terb1 UTSW 8 105,179,268 (GRCm39) missense probably damaging 1.00
R1175:Terb1 UTSW 8 105,210,938 (GRCm39) missense probably benign 0.07
R1494:Terb1 UTSW 8 105,225,122 (GRCm39) splice site probably benign
R1657:Terb1 UTSW 8 105,215,123 (GRCm39) missense possibly damaging 0.77
R2018:Terb1 UTSW 8 105,179,331 (GRCm39) missense probably benign 0.00
R2029:Terb1 UTSW 8 105,224,732 (GRCm39) splice site probably benign
R2047:Terb1 UTSW 8 105,212,094 (GRCm39) missense probably damaging 1.00
R2062:Terb1 UTSW 8 105,195,380 (GRCm39) missense possibly damaging 0.65
R2179:Terb1 UTSW 8 105,199,369 (GRCm39) missense probably benign 0.08
R2179:Terb1 UTSW 8 105,179,347 (GRCm39) missense probably damaging 0.99
R2187:Terb1 UTSW 8 105,199,516 (GRCm39) missense probably benign
R2420:Terb1 UTSW 8 105,225,227 (GRCm39) missense probably damaging 1.00
R2867:Terb1 UTSW 8 105,174,485 (GRCm39) unclassified probably benign
R3749:Terb1 UTSW 8 105,223,466 (GRCm39) missense probably damaging 1.00
R4850:Terb1 UTSW 8 105,212,057 (GRCm39) missense probably benign 0.02
R4930:Terb1 UTSW 8 105,174,580 (GRCm39) missense probably benign 0.00
R4963:Terb1 UTSW 8 105,208,950 (GRCm39) missense probably damaging 1.00
R4969:Terb1 UTSW 8 105,221,795 (GRCm39) missense probably benign 0.00
R5100:Terb1 UTSW 8 105,221,805 (GRCm39) nonsense probably null
R5440:Terb1 UTSW 8 105,215,131 (GRCm39) missense probably damaging 1.00
R5824:Terb1 UTSW 8 105,212,079 (GRCm39) missense probably benign 0.08
R5950:Terb1 UTSW 8 105,215,117 (GRCm39) critical splice donor site probably null
R5985:Terb1 UTSW 8 105,208,948 (GRCm39) missense probably damaging 1.00
R5985:Terb1 UTSW 8 105,178,439 (GRCm39) missense probably benign 0.09
R6320:Terb1 UTSW 8 105,173,831 (GRCm39) missense probably damaging 1.00
R6432:Terb1 UTSW 8 105,212,078 (GRCm39) missense possibly damaging 0.65
R6473:Terb1 UTSW 8 105,199,669 (GRCm39) missense probably damaging 1.00
R6701:Terb1 UTSW 8 105,199,388 (GRCm39) missense possibly damaging 0.69
R7013:Terb1 UTSW 8 105,215,222 (GRCm39) nonsense probably null
R7064:Terb1 UTSW 8 105,215,186 (GRCm39) missense probably benign 0.00
R7237:Terb1 UTSW 8 105,221,959 (GRCm39) missense possibly damaging 0.85
R7361:Terb1 UTSW 8 105,195,431 (GRCm39) missense probably damaging 1.00
R7549:Terb1 UTSW 8 105,224,716 (GRCm39) missense possibly damaging 0.85
R7915:Terb1 UTSW 8 105,173,848 (GRCm39) missense possibly damaging 0.59
R8112:Terb1 UTSW 8 105,195,399 (GRCm39) missense probably benign 0.32
R8256:Terb1 UTSW 8 105,199,579 (GRCm39) missense possibly damaging 0.92
R8329:Terb1 UTSW 8 105,211,003 (GRCm39) missense probably damaging 1.00
R8807:Terb1 UTSW 8 105,195,741 (GRCm39) critical splice donor site probably null
R8953:Terb1 UTSW 8 105,195,431 (GRCm39) missense probably damaging 1.00
R8984:Terb1 UTSW 8 105,212,036 (GRCm39) missense possibly damaging 0.94
R9614:Terb1 UTSW 8 105,223,476 (GRCm39) missense probably benign 0.13
Posted On 2013-12-09