Incidental Mutation 'R4930:Terb1'
ID 381157
Institutional Source Beutler Lab
Gene Symbol Terb1
Ensembl Gene ENSMUSG00000052616
Gene Name telomere repeat binding bouquet formation protein 1
Synonyms Ccdc79, 4930532D21Rik
MMRRC Submission 042531-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4930 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105173351-105236542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 105174580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 698 (P698Q)
Ref Sequence ENSEMBL: ENSMUSP00000067324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041769] [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: ENSMUST00000041769
SMART Domains Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770

DomainStartEndE-ValueType
Pfam:DLIC 30 491 5.8e-264 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064576
AA Change: P698Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: P698Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212040
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 99% (88/89)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik C T 12: 72,953,008 (GRCm39) E242K possibly damaging Het
A930011G23Rik A G 5: 99,370,263 (GRCm39) M499T possibly damaging Het
Abcb8 G A 5: 24,605,779 (GRCm39) V196M possibly damaging Het
Ahnak T C 19: 8,988,331 (GRCm39) M3205T possibly damaging Het
Ankrd1 A G 19: 36,092,433 (GRCm39) Y265H probably damaging Het
Apeh A G 9: 107,965,024 (GRCm39) S446P probably benign Het
Apip C A 2: 102,922,226 (GRCm39) Y197* probably null Het
Arhgef11 T G 3: 87,635,901 (GRCm39) V925G probably damaging Het
Arid4b T C 13: 14,362,062 (GRCm39) V929A probably damaging Het
Asah2 T A 19: 32,030,306 (GRCm39) D122V probably benign Het
B2m A T 2: 121,982,128 (GRCm39) D116V possibly damaging Het
Bhmt-ps1 A G 4: 26,369,184 (GRCm39) noncoding transcript Het
Cacna1g T A 11: 94,334,899 (GRCm39) I803F probably damaging Het
Ccdc43 A T 11: 102,581,111 (GRCm39) V113E probably damaging Het
Cenpj A T 14: 56,772,238 (GRCm39) Y388* probably null Het
Chd3 G A 11: 69,245,034 (GRCm39) probably benign Het
Chil3 C T 3: 106,071,524 (GRCm39) D47N possibly damaging Het
Colgalt2 A G 1: 152,375,710 (GRCm39) T361A possibly damaging Het
Cops3 C A 11: 59,726,193 (GRCm39) probably benign Het
Crb2 G T 2: 37,673,326 (GRCm39) G74V probably damaging Het
Cspg4b G T 13: 113,464,196 (GRCm39) G1453C probably damaging Het
Cyp20a1 A T 1: 60,405,878 (GRCm39) Y224F probably damaging Het
Diaph3 A G 14: 87,378,602 (GRCm39) probably benign Het
Dnah3 A T 7: 119,550,904 (GRCm39) Y3127* probably null Het
Eef1akmt3 A C 10: 126,877,224 (GRCm39) S14A possibly damaging Het
Ehf C A 2: 103,097,202 (GRCm39) R250L probably damaging Het
Eps8l1 G A 7: 4,463,915 (GRCm39) R13Q possibly damaging Het
Frem2 A C 3: 53,563,736 (GRCm39) V257G possibly damaging Het
Gc T C 5: 89,587,448 (GRCm39) T259A probably benign Het
Gm4952 A T 19: 12,604,376 (GRCm39) N263Y probably benign Het
Gpcpd1 T A 2: 132,388,794 (GRCm39) H326L probably damaging Het
Helz T C 11: 107,510,994 (GRCm39) F617L probably damaging Het
Hoxb4 T C 11: 96,209,662 (GRCm39) Y23H probably damaging Het
Hsf4 T A 8: 105,999,330 (GRCm39) probably null Het
Ift56 A T 6: 38,368,475 (GRCm39) Y174F probably damaging Het
Ighv1-81 T C 12: 115,883,924 (GRCm39) D109G probably damaging Het
Irx4 T C 13: 73,417,032 (GRCm39) V476A probably benign Het
Katnb1 T A 8: 95,823,922 (GRCm39) probably null Het
L3mbtl1 A G 2: 162,807,692 (GRCm39) Y490C probably damaging Het
Lemd2 A G 17: 27,412,806 (GRCm39) probably null Het
Lrrc38 A T 4: 143,096,438 (GRCm39) T250S probably damaging Het
Map3k8 A T 18: 4,349,215 (GRCm39) Y34* probably null Het
Mgst1 T A 6: 138,130,507 (GRCm39) F79I probably benign Het
Midn T C 10: 79,991,189 (GRCm39) S357P probably benign Het
Mmp3 T A 9: 7,447,640 (GRCm39) D208E probably benign Het
Mrps26 A G 2: 130,406,862 (GRCm39) E163G probably damaging Het
Mycbpap A T 11: 94,393,983 (GRCm39) M371K probably benign Het
Mynn A C 3: 30,661,191 (GRCm39) N91T probably damaging Het
Nek11 A G 9: 105,177,265 (GRCm39) L292P probably damaging Het
Nid1 A T 13: 13,684,596 (GRCm39) R1228W probably damaging Het
Nphs2 T C 1: 156,148,499 (GRCm39) Y121H probably damaging Het
Or1f19 T G 16: 3,410,299 (GRCm39) L13R probably damaging Het
Or4p7 G A 2: 88,222,284 (GRCm39) R231H probably benign Het
Or5ac22 C A 16: 59,135,236 (GRCm39) C178F probably damaging Het
Or5ap2 T A 2: 85,680,237 (GRCm39) I147N probably benign Het
Or5d38 A C 2: 87,954,684 (GRCm39) I215S probably benign Het
Or7e176 T C 9: 20,171,313 (GRCm39) I59T probably damaging Het
Or9q2 T C 19: 13,772,915 (GRCm39) H20R probably benign Het
P2rx7 C T 5: 122,808,542 (GRCm39) T308M probably damaging Het
Prdx6 C T 1: 161,069,263 (GRCm39) probably benign Het
Rad54b T A 4: 11,615,579 (GRCm39) D862E probably damaging Het
Ripor1 A G 8: 106,343,814 (GRCm39) Y344C probably damaging Het
Rnf112 T C 11: 61,344,291 (GRCm39) M43V probably benign Het
Rp1l1 A G 14: 64,269,655 (GRCm39) N1747S probably benign Het
Rps27 A G 3: 90,120,306 (GRCm39) V22A probably damaging Het
Spaca1 A G 4: 34,044,236 (GRCm39) V86A possibly damaging Het
Spdef A G 17: 27,937,136 (GRCm39) Y156H probably damaging Het
Specc1 A C 11: 62,009,784 (GRCm39) E433D possibly damaging Het
Srpra T A 9: 35,126,326 (GRCm39) F506L probably benign Het
Stxbp5 A G 10: 9,636,610 (GRCm39) probably benign Het
Syne1 C T 10: 5,002,777 (GRCm39) R8046Q probably damaging Het
Tbx5 T A 5: 120,021,090 (GRCm39) S365R probably benign Het
Tmbim7 T A 5: 3,711,948 (GRCm39) Y27* probably null Het
Tmem106c C A 15: 97,862,909 (GRCm39) A60E possibly damaging Het
Ttc6 T A 12: 57,720,609 (GRCm39) probably null Het
Ttn T C 2: 76,562,714 (GRCm39) I28747V possibly damaging Het
Unc13a C T 8: 72,083,148 (GRCm39) probably null Het
Wdr81 T C 11: 75,342,750 (GRCm39) D839G probably benign Het
Wfdc15a G C 2: 164,041,725 (GRCm39) Q33E probably benign Het
Zfp456 T C 13: 67,515,065 (GRCm39) R214G probably benign Het
Zfp457 T A 13: 67,442,164 (GRCm39) Y137F 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
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
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'- AGGCTCCATAACTTCACAGAG -3'
(R):5'- GGAGTGTGTCCATATGTATCGC -3'

Sequencing Primer
(F):5'- TCACAGAGAAGAATACCAACATTTG -3'
(R):5'- GTGTGTCCATATGTATCGCATATAC -3'
Posted On 2016-04-15