Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03410:Terb1'

421775

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

104446719-104509910 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 104473042 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064576] [ENSMUST00000159713] [ENSMUST00000161520]

Predicted Effect

probably benign
Transcript: ENSMUST00000064576

SMART Domains

Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,001,896	V409E	probably damaging	Het
1700086D15Rik	A	G	11: 65,152,567		probably benign	Het
Apba1	A	G	19: 23,937,581	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,600,490	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 104,283,869	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,456,699	V483A	probably benign	Het
Dclre1b	T	A	3: 103,808,140	D14V	probably damaging	Het
Dock5	T	C	14: 67,846,086	I125V	probably benign	Het
Dok3	G	T	13: 55,524,231	Y211*	probably null	Het
Fat4	T	C	3: 38,891,176	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,050,243	F1790S	possibly damaging	Het
Gm13083	C	A	4: 143,615,281	H93Q	probably benign	Het
Gm4787	A	T	12: 81,379,174	M70K	probably damaging	Het
Gulp1	A	T	1: 44,708,617	D10V	probably damaging	Het
Hagh	T	C	17: 24,860,942		probably benign	Het
Htt	A	G	5: 34,799,445	E206G	probably damaging	Het
Hyou1	A	G	9: 44,388,058	E682G	probably benign	Het
Igkv4-59	G	T	6: 69,438,466	A35E	probably damaging	Het
Krt78	A	G	15: 101,953,986	V80A	probably damaging	Het
Lars2	G	A	9: 123,418,776	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,516	R367W	probably damaging	Het
Med1	A	T	11: 98,189,183	M44K	possibly damaging	Het
Mep1a	T	A	17: 43,478,095		probably null	Het
Mmrn1	A	G	6: 60,975,835	I367V	probably benign	Het
Myo18a	T	C	11: 77,848,004	L1677P	probably damaging	Het
Neb	T	C	2: 52,319,705	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073	R155G	probably benign	Het
Nrip1	T	C	16: 76,292,491	N726S	probably benign	Het
Nyap2	A	G	1: 81,241,441	T393A	possibly damaging	Het
Olfr1029	T	A	2: 85,975,420	M59K	probably damaging	Het
Olfr1272	A	G	2: 90,282,213	Y121H	probably damaging	Het
Olfr32	G	A	2: 90,139,145		probably benign	Het
Oprm1	A	T	10: 6,830,051	I238F	probably damaging	Het
Pcnx2	T	A	8: 125,887,040	E557D	probably damaging	Het
Pole	A	G	5: 110,324,559	I1563V	probably benign	Het
Prdx3	T	G	19: 60,871,410		probably benign	Het
Rgsl1	C	T	1: 153,793,755	R295K	probably null	Het
Rhbdl2	T	A	4: 123,829,670	L289*	probably null	Het
Rnps1	A	G	17: 24,421,861		probably benign	Het
Rpgrip1	A	G	14: 52,158,366		probably benign	Het
Ryr2	A	T	13: 11,588,147	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,944,867	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,348,539	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,644,888	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,529,687	E165G	probably benign	Het
Slc6a3	A	T	13: 73,538,657	I48F	probably benign	Het
Stxbp3	C	T	3: 108,802,160	C354Y	probably damaging	Het
Tfrc	G	A	16: 32,624,831		probably null	Het
Toporsl	A	C	4: 52,611,134	R342S	probably benign	Het
Ttc26	T	C	6: 38,385,500	L70P	probably damaging	Het
Ube2d3	T	A	3: 135,465,217	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,340	V3417L	probably benign	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
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
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

Posted On

2016-08-02