Incidental Mutation 'R2187:Terb1'
ID 237874
Institutional Source Beutler Lab
Gene Symbol Terb1
Ensembl Gene ENSMUSG00000052616
Gene Name telomere repeat binding bouquet formation protein 1
Synonyms Ccdc79, 4930532D21Rik
MMRRC Submission 040189-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2187 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 105173351-105236542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105199516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 476 (Y476F)
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: Y476F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: Y476F

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 benign
Transcript: ENSMUST00000159713
SMART Domains Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616

DomainStartEndE-ValueType
SCOP:d1qgra_ 10 335 6e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161520
SMART Domains Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T A 17: 31,324,491 (GRCm39) S245R probably damaging Het
AI597479 T A 1: 43,139,983 (GRCm39) W70R probably damaging Het
Ankrd55 A G 13: 112,520,039 (GRCm39) S575G probably benign Het
Bfsp2 T A 9: 103,303,976 (GRCm39) K343* probably null Het
Cant1 A T 11: 118,299,667 (GRCm39) Y227* probably null Het
Cd2bp2 T C 7: 126,793,963 (GRCm39) N109D probably benign Het
Chmp6 A G 11: 119,807,562 (GRCm39) E135G possibly damaging Het
Dsp T G 13: 38,360,383 (GRCm39) S329R probably damaging Het
Epha5 A T 5: 84,234,223 (GRCm39) F767L probably damaging Het
Epha7 A T 4: 28,942,648 (GRCm39) T566S possibly damaging Het
Erap1 A T 13: 74,810,524 (GRCm39) I288F probably damaging Het
Erich6 A G 3: 58,537,266 (GRCm39) probably null Het
Fbxo10 A G 4: 45,058,531 (GRCm39) V402A probably benign Het
Fndc1 T A 17: 7,960,604 (GRCm39) I1604F probably damaging Het
Foxd4 T G 19: 24,877,219 (GRCm39) Q327P probably damaging Het
Fxn T A 19: 24,257,853 (GRCm39) N26I probably benign Het
Hsf5 G T 11: 87,529,010 (GRCm39) G582C possibly damaging Het
Itga8 A G 2: 12,199,231 (GRCm39) V522A possibly damaging Het
Kplce A G 3: 92,775,922 (GRCm39) S254P probably damaging Het
Lyst C T 13: 13,883,926 (GRCm39) T2938I possibly damaging Het
Mib2 T C 4: 155,739,390 (GRCm39) E863G possibly damaging Het
Mrgpra9 A G 7: 46,884,797 (GRCm39) F290S probably damaging Het
Mst1 T C 9: 107,961,539 (GRCm39) Y599H possibly damaging Het
Mylk4 T C 13: 32,905,996 (GRCm39) I165V probably damaging Het
Nipsnap2 T C 5: 129,823,537 (GRCm39) probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Nup93 T A 8: 95,027,478 (GRCm39) S295R probably damaging Het
Nutm2 A T 13: 50,621,453 (GRCm39) Q6L probably benign Het
Or2b6 A T 13: 21,823,555 (GRCm39) I46N probably damaging Het
Or5ak20 T G 2: 85,184,259 (GRCm39) S4R probably benign Het
Or5b12b T A 19: 12,861,619 (GRCm39) C125S probably damaging Het
Or6c33 A G 10: 129,853,557 (GRCm39) E109G probably damaging Het
Pip5k1a A T 3: 94,979,229 (GRCm39) L189Q probably damaging Het
Plekha4 C T 7: 45,198,698 (GRCm39) R574C probably damaging Het
Ppp2cb A G 8: 34,100,705 (GRCm39) E42G possibly damaging Het
Prkd3 T A 17: 79,282,983 (GRCm39) Q244L probably benign Het
Ptpn14 C T 1: 189,595,425 (GRCm39) R1023* probably null Het
Ptpra A G 2: 130,346,219 (GRCm39) T127A probably benign Het
Rad54l2 ACCTCCTCCTCCTCCTCCTCCTCCTC ACCTCCTCCTCCTCCTCCTCCTC 9: 106,631,191 (GRCm39) probably benign Het
Rasgrf1 T C 9: 89,876,888 (GRCm39) I751T possibly damaging Het
Rbm27 A G 18: 42,459,022 (GRCm39) K697R probably damaging Het
Rhoa C T 9: 108,212,352 (GRCm39) T127M probably benign Het
Rnpepl1 A G 1: 92,844,617 (GRCm39) S370G probably null Het
Sdk1 C T 5: 142,100,329 (GRCm39) T1453I probably damaging Het
Sel1l2 A G 2: 140,072,793 (GRCm39) L614S probably damaging Het
Slc6a20b T A 9: 123,427,653 (GRCm39) I419F probably damaging Het
Slc8a1 C T 17: 81,955,982 (GRCm39) S352N possibly damaging Het
Spta1 A G 1: 174,020,532 (GRCm39) D547G probably damaging Het
Tc2n G A 12: 101,672,803 (GRCm39) T46I probably damaging Het
Trim12a T A 7: 103,953,399 (GRCm39) E237D probably damaging Het
Usp47 T C 7: 111,666,398 (GRCm39) L309P 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
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
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
Predicted Primers PCR Primer
(F):5'- TACCTCGATTGAGAAACAGAATCC -3'
(R):5'- AGCTTCTCAGGTATCCCAATATC -3'

Sequencing Primer
(F):5'- CGATTGAGAAACAGAATCCTTTTGG -3'
(R):5'- GTGCTACAGTATGAATCAAAG -3'
Posted On 2014-10-02