Incidental Mutation 'IGL02974:Terb1'
ID 406292
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 # IGL02974
Quality Score
Status
Chromosome 8
Chromosomal Location 105173351-105236542 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 105221600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 202 (S202*)
Ref Sequence ENSEMBL: ENSMUSP00000125431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064576] [ENSMUST00000159713] [ENSMUST00000161520]
AlphaFold Q8C0V1
Predicted Effect probably null
Transcript: ENSMUST00000064576
AA Change: S202*
SMART Domains Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: S202*

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 probably null
Transcript: ENSMUST00000159713
AA Change: S202*
SMART Domains Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616
AA Change: S202*

DomainStartEndE-ValueType
SCOP:d1qgra_ 10 335 6e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161520
AA Change: S202*
SMART Domains Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616
AA Change: S202*

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C T 5: 48,545,479 (GRCm39) T242M probably damaging Het
Abcg3 A T 5: 105,116,129 (GRCm39) I235N probably damaging Het
Agbl3 T C 6: 34,776,757 (GRCm39) L416S probably damaging Het
Alcam T C 16: 52,116,079 (GRCm39) D165G probably benign Het
Aldh18a1 T A 19: 40,557,528 (GRCm39) I341F probably damaging Het
Amn T C 12: 111,237,575 (GRCm39) V7A probably benign Het
Apc C T 18: 34,401,436 (GRCm39) probably benign Het
Arg2 T C 12: 79,197,566 (GRCm39) Y195H probably damaging Het
Bdp1 A T 13: 100,191,800 (GRCm39) M22K probably benign Het
Cacna1s T G 1: 136,020,355 (GRCm39) N797K possibly damaging Het
Chd8 T A 14: 52,439,158 (GRCm39) probably null Het
Clstn2 G A 9: 97,414,760 (GRCm39) T378M probably damaging Het
Elf2 A G 3: 51,165,110 (GRCm39) V298A probably damaging Het
Fbn1 C T 2: 125,188,250 (GRCm39) D1530N probably null Het
Fcrl2 A T 3: 87,164,704 (GRCm39) I274N possibly damaging Het
Fmo3 C T 1: 162,810,619 (GRCm39) E24K probably damaging Het
Fndc3b A T 3: 27,542,425 (GRCm39) N408K probably damaging Het
Foxn2 A T 17: 88,770,543 (GRCm39) N130I probably damaging Het
Fscb T A 12: 64,518,299 (GRCm39) I1056F unknown Het
Gimap5 A C 6: 48,730,311 (GRCm39) T294P possibly damaging Het
Gm20489 T C X: 100,307,320 (GRCm39) Q11R probably damaging Het
Gpr3 T C 4: 132,938,220 (GRCm39) T151A possibly damaging Het
Gzmc T A 14: 56,471,451 (GRCm39) H30L probably damaging Het
Ints6l C A X: 55,552,296 (GRCm39) S845Y probably benign Het
Iqcf3 A T 9: 106,430,844 (GRCm39) C101* probably null Het
Krt82 G A 15: 101,459,020 (GRCm39) Q7* probably null Het
L3mbtl1 A T 2: 162,812,103 (GRCm39) H716L possibly damaging Het
Lefty1 C A 1: 180,762,842 (GRCm39) H56Q probably benign Het
Lrp1 T C 10: 127,390,885 (GRCm39) Y3004C probably damaging Het
Lrp10 C A 14: 54,705,341 (GRCm39) S177* probably null Het
Naa15 A G 3: 51,368,628 (GRCm39) K576R possibly damaging Het
Naip2 A G 13: 100,298,186 (GRCm39) S617P probably damaging Het
Olfm1 T G 2: 28,119,701 (GRCm39) N445K probably damaging Het
Or4ac1-ps1 C T 2: 88,370,579 (GRCm39) silent Het
Or5b24 T G 19: 12,912,399 (GRCm39) V99G probably benign Het
Ostm1 T A 10: 42,559,158 (GRCm39) N139K probably damaging Het
Ovol1 A G 19: 5,601,177 (GRCm39) Y205H probably damaging Het
Pappa C T 4: 65,123,172 (GRCm39) L836F probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ppfia2 A G 10: 106,636,637 (GRCm39) K229E probably benign Het
Ppm1b T A 17: 85,301,252 (GRCm39) V44E possibly damaging Het
Rapgef1 T C 2: 29,600,228 (GRCm39) F611L possibly damaging Het
Rev3l T A 10: 39,738,743 (GRCm39) Y2832* probably null Het
Robo1 T A 16: 72,803,750 (GRCm39) Y1099N probably benign Het
Sf3b1 T C 1: 55,046,866 (GRCm39) H226R probably benign Het
Slc26a4 C T 12: 31,579,553 (GRCm39) V570I probably damaging Het
Slc27a1 C A 8: 72,036,847 (GRCm39) A361D probably damaging Het
Srp68 T C 11: 116,137,051 (GRCm39) N549D probably benign Het
Tmc1 T A 19: 20,878,208 (GRCm39) M96L probably benign Het
Tmprss11d A G 5: 86,454,235 (GRCm39) V190A probably damaging Het
Ttll6 G A 11: 96,047,528 (GRCm39) C709Y probably benign Het
Uba1 A G X: 20,544,959 (GRCm39) H712R probably benign Het
Unc80 A C 1: 66,564,817 (GRCm39) T835P possibly damaging Het
Vmn2r14 G A 5: 109,369,292 (GRCm39) P94S possibly damaging Het
Yes1 C T 5: 32,818,112 (GRCm39) A383V 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
IGL01619:Terb1 APN 8 105,199,646 (GRCm39) missense probably benign 0.00
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
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 2016-08-02