Mutagenetix > Incidental Mutations

Incidental Mutation 'R3749:Terb1'

310102

Institutional Source

Beutler Lab

Gene Symbol

Terb1

Ensembl Gene

ENSMUSG00000052616

Gene Name

telomere repeat binding bouquet formation protein 1

Synonyms

Ccdc79, 4930532D21Rik

MMRRC Submission

040734-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3749 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104446719-104509910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104496834 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 114 (D114G)

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: D114G

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

SMART Domains

Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: D114G

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: D114G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616
AA Change: D114G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161520
AA Change: D114G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616
AA Change: D114G

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

0.0851

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (50/51)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 134,172,865	D5G	probably damaging	Het
Adam19	A	T	11: 46,137,610	D690V	probably benign	Het
Ankib1	G	T	5: 3,734,097	P293Q	probably damaging	Het
Arhgap19	T	A	19: 41,774,079	E461V	probably damaging	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Bub1b	T	A	2: 118,615,455	N319K	possibly damaging	Het
Ccdc40	T	C	11: 119,264,426	V1164A	probably benign	Het
Cfhr1	C	A	1: 139,557,634		probably null	Het
Colq	A	T	14: 31,549,453		probably benign	Het
Daam1	C	A	12: 71,971,166	D716E	probably damaging	Het
Dnah17	T	C	11: 118,082,916	S1935G	probably benign	Het
Dnah8	A	T	17: 30,784,174	K3616*	probably null	Het
Faap24	A	T	7: 35,393,012	V160D	possibly damaging	Het
Gpc1	C	A	1: 92,857,582	C414*	probably null	Het
Igkv9-120	G	A	6: 68,050,001	A7T	probably benign	Het
Kcnu1	T	A	8: 25,886,770	C391S	probably null	Het
Lrba	T	G	3: 86,375,953	L1858R	probably damaging	Het
Lrp10	A	T	14: 54,469,266	N520I	possibly damaging	Het
March6	A	G	15: 31,462,014	V856A	probably benign	Het
Mfsd1	T	C	3: 67,582,953	S46P	probably benign	Het
Mme	T	A	3: 63,343,540	V334E	probably damaging	Het
Mroh2b	G	A	15: 4,952,246	W1513*	probably null	Het
Nuf2	T	A	1: 169,525,376	N20I	probably damaging	Het
Obsl1	T	C	1: 75,498,246	T642A	probably benign	Het
Olfm1	C	T	2: 28,208,088	T54I	probably damaging	Het
Olfr803	C	T	10: 129,691,961	V27I	probably benign	Het
Olfr95	G	A	17: 37,211,800	R18C	possibly damaging	Het
Osbpl7	T	C	11: 97,056,053	V223A	probably damaging	Het
Patj	A	G	4: 98,469,600	Y701C	probably damaging	Het
Pkdrej	T	A	15: 85,821,077	K219N	probably damaging	Het
Scn2a	T	G	2: 65,713,771	V832G	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Slc25a25	G	T	2: 32,420,380	N122K	probably benign	Het
Slk	T	G	19: 47,619,809	D400E	possibly damaging	Het
Spon1	T	C	7: 113,766,384	L19P	probably damaging	Het
Spon1	T	A	7: 114,016,791	V297E	possibly damaging	Het
Supt16	A	G	14: 52,180,139	L306P	probably damaging	Het
Syne1	C	T	10: 5,052,267		probably benign	Het
Tas2r136	A	T	6: 132,777,237	F309Y	probably damaging	Het
Tlr5	T	C	1: 182,974,439	I436T	probably benign	Het
Tpcn2	T	C	7: 145,255,523	H682R	probably damaging	Het
Tpi1	T	A	6: 124,812,791	S130C	probably damaging	Het
Ttn	G	A	2: 76,754,006	H22253Y	probably damaging	Het
Uggt2	A	T	14: 119,057,672	V38E	probably benign	Het
Vmn1r158	A	C	7: 22,790,214	L190W	probably damaging	Het
Vwa5b2	A	G	16: 20,598,326		probably benign	Het
Wnt2	T	C	6: 18,023,168	I161V	probably benign	Het
Zdhhc25	C	T	15: 88,601,023	S187L	probably benign	Het
Zfhx4	G	A	3: 5,243,165	E484K	possibly damaging	Het
Zkscan1	T	C	5: 138,101,441	S476P	probably damaging	Het
Zmynd8	A	G	2: 165,805,198	Y945H	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
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
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'- CAGAGTCCAGATCAAGTGTCATC -3'
(R):5'- AAGCATCTTCGGTCTGACAAC -3'

Sequencing Primer
(F):5'- GAAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- GCATCTTCGGTCTGACAACTTTTATG -3'

Posted On

2015-04-17