Mutagenetix > Incidental Mutations

Incidental Mutation 'R2420:Terb1'

249210

Institutional Source

Beutler Lab

Gene Symbol

Terb1

Ensembl Gene

ENSMUSG00000052616

Gene Name

telomere repeat binding bouquet formation protein 1

Synonyms

Ccdc79, 4930532D21Rik

MMRRC Submission

040382-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104446719-104509910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104498595 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 14 (T14A)

Ref Sequence

ENSEMBL: ENSMUSP00000067324 (fasta)

Gene Model

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

PDB Structure

Solution structures of the myb-like DNA binding domain of 4930532D21Rik protein [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000064576
AA Change: T14A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: T14A

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 damaging
Transcript: ENSMUST00000159713
AA Change: T14A

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

SMART Domains

Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616
AA Change: T14A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161520
AA Change: T14A

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

SMART Domains

Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616
AA Change: T14A

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

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	T	C	5: 5,455,912	Y123C	probably benign	Het
6820408C15Rik	A	G	2: 152,429,001	K48R	probably damaging	Het
Acsm2	T	C	7: 119,563,634	F44L	probably damaging	Het
Actr5	T	C	2: 158,636,081	F457S	probably damaging	Het
Adamts3	A	G	5: 89,683,175	S1007P	probably damaging	Het
Ahnak	C	T	19: 9,009,256	P2635S	possibly damaging	Het
Ankrd17	A	T	5: 90,289,320	D555E	possibly damaging	Het
Arhgap29	A	G	3: 121,973,980	I24V	probably benign	Het
Atxn2	A	T	5: 121,802,079		probably null	Het
Birc6	T	A	17: 74,660,614	L301Q	probably damaging	Het
Ccdc137	G	A	11: 120,462,264		probably null	Het
Ccdc18	A	C	5: 108,228,588	E1298D	probably damaging	Het
Chst9	A	T	18: 15,452,284	N407K	probably damaging	Het
Cwf19l2	A	G	9: 3,411,341	K73E	possibly damaging	Het
Dhcr24	G	T	4: 106,561,094		probably benign	Het
Dnajc21	A	G	15: 10,461,935	S127P	probably benign	Het
Egln1	T	C	8: 124,948,246	N270S	probably benign	Het
Eme1	A	G	11: 94,645,814		probably null	Het
Emilin2	A	G	17: 71,274,279	I484T	possibly damaging	Het
Entpd2	T	C	2: 25,399,283	I259T	probably benign	Het
Fbp1	T	C	13: 62,871,306	K24E	probably benign	Het
Fga	A	T	3: 83,033,154	N705I	possibly damaging	Het
Gas1	G	T	13: 60,176,930		probably benign	Het
Glrb	A	G	3: 80,860,235	I226T	probably damaging	Het
Gm17421	T	A	12: 113,369,487		noncoding transcript	Het
Gm44501	A	T	17: 40,578,709	H38L	possibly damaging	Het
H2-M10.5	A	G	17: 36,774,999	I308V	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Jcad	T	C	18: 4,675,952	M1238T	probably damaging	Het
Kank1	T	C	19: 25,410,457	L498S	probably damaging	Het
Krt10	G	A	11: 99,387,107	T338I	possibly damaging	Het
Krt13	A	T	11: 100,120,051	L159Q	probably benign	Het
Lama1	A	T	17: 67,750,553	M541L	probably benign	Het
Lilra6	A	G	7: 3,914,858	Y96H	probably damaging	Het
Ltc4s	A	G	11: 50,237,339		probably null	Het
Ly6g6e	G	A	17: 35,078,146	R121Q	probably benign	Het
Mfn1	A	G	3: 32,569,515	I263V	probably benign	Het
Mmaa	T	A	8: 79,281,432	R59W	probably damaging	Het
Mug2	C	A	6: 122,083,460	T1385K	probably damaging	Het
Mypn	G	T	10: 63,192,869	Y138*	probably null	Het
Nav3	A	C	10: 109,863,813	S273R	probably damaging	Het
Ndufaf1	T	C	2: 119,655,737	E298G	probably damaging	Het
Olfr1219	T	C	2: 89,074,992	Y33C	possibly damaging	Het
Olfr1290	T	C	2: 111,489,257		probably null	Het
Olfr178	T	C	16: 58,889,965	E85G	probably benign	Het
Olfr470	T	C	7: 107,844,818	K305R	probably benign	Het
Olfr975	A	G	9: 39,950,528	L81P	possibly damaging	Het
Pak1	A	T	7: 97,854,479	D7V	probably benign	Het
Pax3	A	T	1: 78,196,864		probably null	Het
Plekhg1	G	A	10: 3,958,048	M988I	probably benign	Het
Prickle1	A	G	15: 93,503,637	F322S	probably damaging	Het
Prl8a2	A	G	13: 27,348,913	E36G	possibly damaging	Het
Prss45	A	G	9: 110,839,092	I118V	possibly damaging	Het
Psd4	T	G	2: 24,401,241	V597G	probably damaging	Het
Psmb10	A	G	8: 105,937,302	S108P	probably benign	Het
Shank3	A	T	15: 89,521,210	K455*	probably null	Het
Spag17	T	A	3: 100,027,619	W714R	probably benign	Het
Synrg	A	G	11: 84,009,224	E674G	probably damaging	Het
Tep1	T	A	14: 50,834,023	H2055L	probably benign	Het
Tmub2	T	A	11: 102,287,755	D161E	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Tyr	T	A	7: 87,429,189	I488F	probably benign	Het
Uba6	A	G	5: 86,132,616		probably null	Het
Unc13c	T	C	9: 73,931,547	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532	Y605H	probably benign	Het
Wnk1	A	G	6: 119,936,367		probably null	Het
Zfhx4	C	A	3: 5,390,405	A1153E	probably benign	Het
Zfp13	A	C	17: 23,576,212	Y462D	probably damaging	Het
Zfp644	A	G	5: 106,637,244	M479T	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGTTTACTTGATGGCATAAGAAGAC -3'
(R):5'- GCTAAGGACATTGATTTGAGAGCC -3'

Sequencing Primer
(F):5'- GGAGAGGCAAGCACCATCC -3'
(R):5'- TCCTCATAAATACTTCATTAGCATGC -3'

Posted On

2014-11-12