Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Terb1'

644260

Institutional Source

Beutler Lab

Gene Symbol

Terb1

Ensembl Gene

ENSMUSG00000052616

Gene Name

telomere repeat binding bouquet formation protein 1

Synonyms

Ccdc79, 4930532D21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104446719-104509910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104484371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 341 (N341K)

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: N341K

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

SMART Domains

Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616
AA Change: N341K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,543,741		probably null	Het
Ackr4	A	G	9: 104,099,461	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376	I596T	possibly damaging	Het
Aff3	G	A	1: 38,205,054	R879W	probably benign	Het
Apob	A	G	12: 8,011,135	R3206G	probably damaging	Het
Atg7	T	A	6: 114,686,096	D224E	possibly damaging	Het
Capn12	T	C	7: 28,883,201	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,229,037	V224G	probably damaging	Het
Ces4a	G	A	8: 105,148,082	V452I	probably damaging	Het
Cherp	G	A	8: 72,462,008	R834C		Het
Clptm1l	T	A	13: 73,612,428	I310N	probably damaging	Het
Cog3	A	T	14: 75,740,563	D230E	probably damaging	Het
Crb1	T	A	1: 139,237,267	I1101F	probably damaging	Het
Cts6	A	T	13: 61,195,468	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,186,462	C435*	probably null	Het
Defb13	A	G	8: 21,948,546	E40G	probably benign	Het
Dis3l	T	C	9: 64,311,830	D606G	possibly damaging	Het
Dopey2	T	C	16: 93,771,787	L1579P	probably damaging	Het
Foxa3	A	G	7: 19,014,184	V339A	probably benign	Het
Gcn1l1	G	A	5: 115,609,862	G1776E	probably damaging	Het
Gls2	A	G	10: 128,201,285	T232A	probably benign	Het
Gm853	C	T	4: 130,215,363	V295M	possibly damaging	Het
Gprc6a	A	T	10: 51,627,259	Y169*	probably null	Het
Guca2b	T	C	4: 119,658,804	S18G	unknown	Het
Hars2	A	G	18: 36,789,235	D301G	possibly damaging	Het
Haus5	T	A	7: 30,659,559	Q226L	possibly damaging	Het
Hc	G	A	2: 35,012,898		probably null	Het
Hivep2	T	C	10: 14,128,267	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,991,111	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,668,317	R3L	probably benign	Het
Hspa8	T	G	9: 40,802,601	I130S	probably damaging	Het
Ier5l	C	A	2: 30,472,849	C388F	possibly damaging	Het
Lmx1a	A	G	1: 167,689,803	N10S	probably benign	Het
Map2	T	C	1: 66,415,113	I1054T	probably benign	Het
Me1	C	T	9: 86,619,737	D268N	probably damaging	Het
Muc6	G	A	7: 141,640,258	P1501S	unknown	Het
Myo1d	T	C	11: 80,638,074	M641V	probably benign	Het
Nuggc	G	A	14: 65,641,282	R667K	probably benign	Het
Olfr62	A	C	4: 118,666,407	N297H	probably damaging	Het
Olfr742	T	C	14: 50,515,558	F118S	probably damaging	Het
Oprl1	T	A	2: 181,718,924	C231S	probably damaging	Het
Pard3b	C	A	1: 62,637,798	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,418,048	Y158C	probably damaging	Het
Prune2	T	G	19: 17,121,265	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,884,540	T158K	probably damaging	Het
Rbm42	T	A	7: 30,645,157	E227V	unknown	Het
Ripor3	T	C	2: 167,983,199	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,662,510	H3764L	possibly damaging	Het
Sbno2	T	C	10: 80,064,387	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,535,964	V396A	probably damaging	Het
Slc36a3	A	G	11: 55,148,583	L73P	probably damaging	Het
Spag16	T	C	1: 69,895,248	I278T	probably benign	Het
Stx18	T	A	5: 38,128,106	L274*	probably null	Het
Timm29	A	G	9: 21,593,705	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,568,465	M370L	probably benign	Het
Tmtc3	T	A	10: 100,447,434	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,833	C699*	probably null	Het
Trav5d-4	G	A	14: 53,001,751	W13*	probably null	Het
Trdn	A	G	10: 33,444,078		probably null	Het
Tsg101	A	T	7: 46,909,060	Y68N	probably damaging	Het
Ttn	A	G	2: 76,833,718	V11649A	unknown	Het
Wnk2	A	T	13: 49,095,438	V379D	probably damaging	Het
Xpnpep1	A	G	19: 53,002,472		probably null	Het
Yme1l1	C	T	2: 23,164,585	Q139*	probably null	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
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
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
R9614:Terb1	UTSW	8	104496844	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGTGTCACTATGTCTGACAGC -3'
(R):5'- AGAATGTGGCTACATGTTAGAAATC -3'

Sequencing Primer
(F):5'- TGTAGATGTCACTGGCCTAAACC -3'
(R):5'- GCGATGAATCATGATCTCA -3'

Posted On

2020-09-02