Incidental Mutation 'IGL01619:Terb1'
ID92482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Terb1
Ensembl Gene ENSMUSG00000052616
Gene Nametelomere repeat binding bouquet formation protein 1
SynonymsCcdc79, 4930532D21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01619
Quality Score
Status
Chromosome8
Chromosomal Location104446719-104509910 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 104473014 bp
ZygosityHeterozygous
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]
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: 36,485,967 T47A possibly damaging Het
Asxl3 T G 18: 22,523,328 V1465G probably damaging Het
Celsr3 A G 9: 108,837,404 H1995R probably benign Het
Celsr3 A T 9: 108,834,557 D1657V probably damaging Het
Cntn6 G A 6: 104,728,374 probably benign Het
Def6 C T 17: 28,207,864 L8F probably damaging Het
Dnah9 T A 11: 65,831,615 K1940* probably null Het
Dock10 A G 1: 80,634,298 probably benign Het
Fam166b G A 4: 43,427,814 T170I possibly damaging Het
Fam72a A G 1: 131,533,912 I112V probably benign Het
Fgl1 A T 8: 41,196,971 W258R probably damaging Het
Ints6l G T X: 56,496,744 probably benign Het
Lifr A T 15: 7,191,162 N1091I probably damaging Het
Mga T C 2: 119,931,828 I1100T possibly damaging Het
Mrpl40 T A 16: 18,872,544 M139L probably benign Het
Myom1 T C 17: 71,044,476 probably benign Het
Olfr164 T A 16: 19,286,159 T195S probably damaging Het
Pcdhb5 T C 18: 37,322,939 F791L probably damaging Het
Prss29 T C 17: 25,321,139 probably null Het
Ranbp2 A G 10: 58,464,078 probably null Het
Serpinb9e A G 13: 33,255,125 K178R probably damaging Het
Shtn1 A G 19: 59,028,169 S233P probably damaging Het
Smpd1 G A 7: 105,555,342 V143M possibly damaging Het
Traf6 C T 2: 101,690,098 Q164* probably null Het
Trip12 C A 1: 84,814,910 R4L probably damaging Het
Ttn G A 2: 76,863,535 P208S possibly damaging Het
Ube2c T C 2: 164,771,312 I50T probably damaging Het
Uggt1 T C 1: 36,161,694 D1174G probably damaging Het
Vmn2r121 T G X: 124,132,300 M387L probably benign Het
Vmn2r18 T A 5: 151,586,764 N48I probably benign Het
Zc3h15 T C 2: 83,660,173 L217P probably damaging Het
Zyg11a T A 4: 108,205,217 E129V probably damaging Het
Other mutations in Terb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Terb1 APN 8 104451807 missense probably benign 0.09
IGL01468:Terb1 APN 8 104482167 intron probably benign
IGL01631:Terb1 APN 8 104472864 missense probably damaging 0.99
IGL02041:Terb1 APN 8 104495114 missense probably damaging 1.00
IGL02413:Terb1 APN 8 104494868 critical splice donor site probably null
IGL02974:Terb1 APN 8 104494968 nonsense probably null
IGL03091:Terb1 APN 8 104469154 missense probably benign 0.03
IGL03410:Terb1 APN 8 104473042 splice site probably benign
R0825:Terb1 UTSW 8 104468748 missense possibly damaging 0.65
R0906:Terb1 UTSW 8 104452636 missense probably damaging 1.00
R1175:Terb1 UTSW 8 104484306 missense probably benign 0.07
R1494:Terb1 UTSW 8 104498490 splice site probably benign
R1657:Terb1 UTSW 8 104488491 missense possibly damaging 0.77
R2018:Terb1 UTSW 8 104452699 missense probably benign 0.00
R2029:Terb1 UTSW 8 104498100 splice site probably benign
R2047:Terb1 UTSW 8 104485462 missense probably damaging 1.00
R2062:Terb1 UTSW 8 104468748 missense possibly damaging 0.65
R2179:Terb1 UTSW 8 104452715 missense probably damaging 0.99
R2179:Terb1 UTSW 8 104472737 missense probably benign 0.08
R2187:Terb1 UTSW 8 104472884 missense probably benign
R2420:Terb1 UTSW 8 104498595 missense probably damaging 1.00
R2867:Terb1 UTSW 8 104447853 unclassified probably benign
R3749:Terb1 UTSW 8 104496834 missense probably damaging 1.00
R4850:Terb1 UTSW 8 104485425 missense probably benign 0.02
R4930:Terb1 UTSW 8 104447948 missense probably benign 0.00
R4963:Terb1 UTSW 8 104482318 missense probably damaging 1.00
R4969:Terb1 UTSW 8 104495163 missense probably benign 0.00
R5100:Terb1 UTSW 8 104495173 nonsense probably null
R5440:Terb1 UTSW 8 104488499 missense probably damaging 1.00
R5824:Terb1 UTSW 8 104485447 missense probably benign 0.08
R5950:Terb1 UTSW 8 104488485 critical splice donor site probably null
R5985:Terb1 UTSW 8 104451807 missense probably benign 0.09
R5985:Terb1 UTSW 8 104482316 missense probably damaging 1.00
R6320:Terb1 UTSW 8 104447199 missense probably damaging 1.00
R6432:Terb1 UTSW 8 104485446 missense possibly damaging 0.65
R6473:Terb1 UTSW 8 104473037 missense probably damaging 1.00
R6701:Terb1 UTSW 8 104472756 missense possibly damaging 0.69
R7013:Terb1 UTSW 8 104488590 nonsense probably null
R7064:Terb1 UTSW 8 104488554 missense probably benign 0.00
R7237:Terb1 UTSW 8 104495327 missense possibly damaging 0.85
R7361:Terb1 UTSW 8 104468799 missense probably damaging 1.00
R7549:Terb1 UTSW 8 104498084 missense possibly damaging 0.85
R8112:Terb1 UTSW 8 104468767 missense probably benign 0.32
Posted On2013-12-09