Mutagenetix > Incidental Mutation

Incidental Mutation 'R0906:Terb1'

83325

Institutional Source

Beutler Lab

Gene Symbol

Terb1

Ensembl Gene

ENSMUSG00000052616

Gene Name

telomere repeat binding bouquet formation protein 1

Synonyms

Ccdc79, 4930532D21Rik

MMRRC Submission

039064-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104446719-104509910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104452636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 640 (I640N)

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 damaging
Transcript: ENSMUST00000064576
AA Change: I640N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: I640N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
SCOP:d1qgra_	10	335	6e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161520

SMART Domains

Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616

Domain	Start	End	E-Value	Type
SCOP:d1qgra_	10	336	2e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162014

SMART Domains

Protein: ENSMUSP00000123925
Gene: ENSMUSG00000052616

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1477

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

100% (33/33)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,737,693		probably benign	Het
Atp7b	T	C	8: 22,027,826	H332R	probably benign	Het
Bace2	C	T	16: 97,356,941	P47L	possibly damaging	Het
Cyp2c39	A	G	19: 39,510,871	M1V	probably null	Het
Dcbld2	A	G	16: 58,455,247	E442G	probably damaging	Het
Gm14496	A	G	2: 182,000,515	T660A	probably damaging	Het
Gm4945	A	C	17: 47,042,870		noncoding transcript	Het
Gm5065	T	C	7: 5,359,829	I153T	probably damaging	Het
Gm6729	T	C	10: 86,540,592		noncoding transcript	Het
Golga1	G	A	2: 39,047,643	R204W	probably damaging	Het
Guf1	T	C	5: 69,566,386	I348T	probably damaging	Het
Htra4	T	A	8: 25,037,144	I212L	probably benign	Het
Itih5	G	A	2: 10,249,188	R750Q	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nsd1	T	C	13: 55,277,590	V1520A	probably benign	Het
Nuak1	C	T	10: 84,375,280	V315I	probably damaging	Het
Nup205	G	T	6: 35,236,892	G1740C	probably damaging	Het
Olfr398	G	C	11: 73,983,859	L250V	probably damaging	Het
Pclo	T	C	5: 14,676,686		probably benign	Het
Pik3r6	T	C	11: 68,536,101		probably benign	Het
Pikfyve	T	A	1: 65,253,397	F1336I	probably damaging	Het
Pla2r1	A	G	2: 60,514,947	I355T	possibly damaging	Het
Rgs22	A	T	15: 36,103,902		probably benign	Het
Sec63	T	A	10: 42,801,928	M312K	probably damaging	Het
Slc2a5	T	C	4: 150,142,830	I401T	probably benign	Het
Slc9a8	G	T	2: 167,434,867		probably benign	Het
Stab1	T	C	14: 31,145,249	E1718G	probably benign	Het
Tmem217	A	G	17: 29,526,516	L80P	probably damaging	Het
Topbp1	C	T	9: 103,328,593	P810L	probably benign	Het
Ttbk2	G	A	2: 120,783,781	R151C	probably damaging	Het
Vmn2r88	T	G	14: 51,418,209	L626R	probably damaging	Het

Other mutations in Terb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Terb1	APN	8	104451807	missense	probably benign	0.09
IGL01468:Terb1	APN	8	104482167	intron	probably benign
IGL01619:Terb1	APN	8	104473014	missense	probably benign	0.00
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
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
R7915:Terb1	UTSW	8	104447216	missense	possibly damaging	0.59
R8112:Terb1	UTSW	8	104468767	missense	probably benign	0.32
R8256:Terb1	UTSW	8	104472947	missense	possibly damaging	0.92
R8329:Terb1	UTSW	8	104484371	missense	probably damaging	1.00
R8807:Terb1	UTSW	8	104469109	critical splice donor site	probably null
R8953:Terb1	UTSW	8	104468799	missense	probably damaging	1.00
R8984:Terb1	UTSW	8	104485404	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GACTGAGACTATAGGTGTGTGCTACCA -3'
(R):5'- TGCACTGACTTGGAGTAGCCCTT -3'

Sequencing Primer
(F):5'- ATAGGTGTGTGCTACCATGCTAAG -3'
(R):5'- cgtcctgccttcctgcc -3'

Posted On

2013-11-08