Mutagenetix > Incidental Mutation

Incidental Mutation 'R8807:Terb1'

672144

Institutional Source

Beutler Lab

Gene Symbol

Terb1

Ensembl Gene

ENSMUSG00000052616

Gene Name

telomere repeat binding bouquet formation protein 1

Synonyms

Ccdc79, 4930532D21Rik

MMRRC Submission

068643-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105173351-105236542 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 105195741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
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

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	C	5: 48,534,494 (GRCm39)	I118T	probably damaging	Het
Abca8a	A	T	11: 109,974,252 (GRCm39)	F227L	probably benign	Het
Abcc6	A	T	7: 45,648,431 (GRCm39)	I687N	possibly damaging	Het
Akain1	T	C	17: 69,794,340 (GRCm39)	*70Q	probably null	Het
Allc	C	T	12: 28,615,489 (GRCm39)	G89S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,188 (GRCm39)	F399L	probably benign	Het
Artn	A	T	4: 117,783,915 (GRCm39)	S184T	possibly damaging	Het
B3galt9	A	T	2: 34,728,818 (GRCm39)	I206F	probably damaging	Het
Bcl2a1c	A	T	9: 114,159,248 (GRCm39)	I9F	probably damaging	Het
Cacna2d1	T	A	5: 16,472,452 (GRCm39)	D286E	probably damaging	Het
Cdc25a	G	A	9: 109,708,303 (GRCm39)	E98K	probably benign	Het
Cdcp3	A	T	7: 130,846,507 (GRCm39)	I644F	probably damaging	Het
Cdr2l	A	T	11: 115,284,741 (GRCm39)	Q359L	probably damaging	Het
Cmip	C	T	8: 118,138,094 (GRCm39)	T103M	probably benign	Het
Dcaf1	A	G	9: 106,742,268 (GRCm39)	T1358A	probably benign	Het
Dedd2	C	T	7: 24,910,705 (GRCm39)	R157Q	probably benign	Het
Dhrs1	A	G	14: 55,982,499 (GRCm39)	V9A	probably damaging	Het
Dop1b	T	A	16: 93,558,973 (GRCm39)	V573E	probably benign	Het
Eef2k	A	T	7: 120,490,930 (GRCm39)	I517F	possibly damaging	Het
En1	T	C	1: 120,531,090 (GRCm39)	F110S	possibly damaging	Het
Evpl	T	A	11: 116,111,853 (GRCm39)	I1946F	probably damaging	Het
Gaa	A	T	11: 119,168,393 (GRCm39)	M502L	probably benign	Het
Gfer	C	T	17: 24,914,846 (GRCm39)	A66T	possibly damaging	Het
Gm13271	A	G	4: 88,673,213 (GRCm39)	T37A	probably benign	Het
Grm3	C	T	5: 9,561,499 (GRCm39)	A784T	probably damaging	Het
H3c8	A	G	13: 23,719,628 (GRCm39)	K5E	probably benign	Het
Helz	C	G	11: 107,493,835 (GRCm39)	S277C	probably damaging	Het
Henmt1	T	G	3: 108,867,652 (GRCm39)	*396G	probably null	Het
Hfe	C	T	13: 23,889,667 (GRCm39)	V327I	probably benign	Het
Hoxd8	A	T	2: 74,536,313 (GRCm39)	Q141L	probably damaging	Het
Hspa12b	T	G	2: 130,987,103 (GRCm39)	S675A	probably benign	Het
Ifi214	G	A	1: 173,354,133 (GRCm39)	T179I	possibly damaging	Het
Ighv5-9	T	A	12: 113,625,404 (GRCm39)	Y113F	possibly damaging	Het
Lca5l	T	A	16: 95,979,808 (GRCm39)	R112S	probably benign	Het
Lmbrd1	C	T	1: 24,770,843 (GRCm39)	P257S	probably benign	Het
Loxhd1	C	T	18: 77,444,468 (GRCm39)	T608I	possibly damaging	Het
Lpl	C	A	8: 69,345,280 (GRCm39)	L95I	probably damaging	Het
Lrp2bp	A	T	8: 46,473,732 (GRCm39)	Q196L	probably damaging	Het
Ly6h	A	G	15: 75,438,056 (GRCm39)	Y19H	probably benign	Het
Mfsd6	T	C	1: 52,697,706 (GRCm39)		probably benign	Het
Mpo	T	C	11: 87,687,165 (GRCm39)	I237T	probably benign	Het
Mrpl41	A	G	2: 24,864,878 (GRCm39)	W6R	unknown	Het
Muc16	T	A	9: 18,567,353 (GRCm39)	H1722L	unknown	Het
Mug1	A	C	6: 121,851,434 (GRCm39)	D777A	probably benign	Het
Myh1	A	T	11: 67,111,354 (GRCm39)	I1598F	probably benign	Het
Myo1f	C	T	17: 33,794,879 (GRCm39)	R40C	probably damaging	Het
Myo6	G	A	9: 80,207,949 (GRCm39)		probably null	Het
Nbeal2	G	T	9: 110,458,707 (GRCm39)	N2071K	probably damaging	Het
Nectin4	T	A	1: 171,211,282 (GRCm39)	C269S	probably damaging	Het
Nhlrc1	A	T	13: 47,167,990 (GRCm39)	L89Q	probably damaging	Het
Nup205	T	C	6: 35,160,904 (GRCm39)	F103S	probably damaging	Het
Obscn	C	A	11: 58,970,470 (GRCm39)	V2379F	probably damaging	Het
Or5m8	A	T	2: 85,823,172 (GRCm39)	*337L	probably null	Het
Or5p62	A	T	7: 107,771,852 (GRCm39)	I33N	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,517,584 (GRCm39)	V101A	probably benign	Het
Rps6kb2	C	T	19: 4,213,229 (GRCm39)	D6N	probably damaging	Het
Rsph1	T	A	17: 31,484,828 (GRCm39)	H154L	probably damaging	Het
Sdk1	G	A	5: 142,071,382 (GRCm39)	V1191M	probably damaging	Het
Selenos	T	A	7: 65,729,467 (GRCm39)	D2E	probably benign	Het
Sema5a	G	A	15: 32,562,868 (GRCm39)	G293D	possibly damaging	Het
Sgcg	A	G	14: 61,469,930 (GRCm39)	S144P	probably damaging	Het
Sh3d19	T	C	3: 85,992,659 (GRCm39)	V229A	probably benign	Het
Sin3b	C	T	8: 73,476,708 (GRCm39)	A714V	probably benign	Het
Slitrk6	T	A	14: 110,988,123 (GRCm39)	Q528L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,535,932 (GRCm39)	L4063H	probably damaging	Het
Stard9	A	C	2: 120,535,943 (GRCm39)	K4067Q	probably damaging	Het
Tex2	T	A	11: 106,435,194 (GRCm39)	H744L	unknown	Het
Tex2	T	C	11: 106,458,414 (GRCm39)	S339G	unknown	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trhr	A	T	15: 44,061,212 (GRCm39)	N244I	probably benign	Het
Ttn	G	A	2: 76,582,409 (GRCm39)	A22828V	probably damaging	Het
Uchl1	C	T	5: 66,833,601 (GRCm39)		probably benign	Het
Uroc1	A	T	6: 90,328,110 (GRCm39)	I529F	probably damaging	Het
Vps13c	G	T	9: 67,766,122 (GRCm39)	V80F	probably damaging	Het
Wnt1	T	A	15: 98,690,645 (GRCm39)	C325S	probably damaging	Het

Other mutations in Terb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Terb1	APN	8	105,178,439 (GRCm39)	missense	probably benign	0.09
IGL01468:Terb1	APN	8	105,208,799 (GRCm39)	intron	probably benign
IGL01619:Terb1	APN	8	105,199,646 (GRCm39)	missense	probably benign	0.00
IGL01631:Terb1	APN	8	105,199,496 (GRCm39)	missense	probably damaging	0.99
IGL02041:Terb1	APN	8	105,221,746 (GRCm39)	missense	probably damaging	1.00
IGL02413:Terb1	APN	8	105,221,500 (GRCm39)	critical splice donor site	probably null
IGL02974:Terb1	APN	8	105,221,600 (GRCm39)	nonsense	probably null
IGL03091:Terb1	APN	8	105,195,786 (GRCm39)	missense	probably benign	0.03
IGL03410:Terb1	APN	8	105,199,674 (GRCm39)	splice site	probably benign
R0825:Terb1	UTSW	8	105,195,380 (GRCm39)	missense	possibly damaging	0.65
R0906:Terb1	UTSW	8	105,179,268 (GRCm39)	missense	probably damaging	1.00
R1175:Terb1	UTSW	8	105,210,938 (GRCm39)	missense	probably benign	0.07
R1494:Terb1	UTSW	8	105,225,122 (GRCm39)	splice site	probably benign
R1657:Terb1	UTSW	8	105,215,123 (GRCm39)	missense	possibly damaging	0.77
R2018:Terb1	UTSW	8	105,179,331 (GRCm39)	missense	probably benign	0.00
R2029:Terb1	UTSW	8	105,224,732 (GRCm39)	splice site	probably benign
R2047:Terb1	UTSW	8	105,212,094 (GRCm39)	missense	probably damaging	1.00
R2062:Terb1	UTSW	8	105,195,380 (GRCm39)	missense	possibly damaging	0.65
R2179:Terb1	UTSW	8	105,199,369 (GRCm39)	missense	probably benign	0.08
R2179:Terb1	UTSW	8	105,179,347 (GRCm39)	missense	probably damaging	0.99
R2187:Terb1	UTSW	8	105,199,516 (GRCm39)	missense	probably benign
R2420:Terb1	UTSW	8	105,225,227 (GRCm39)	missense	probably damaging	1.00
R2867:Terb1	UTSW	8	105,174,485 (GRCm39)	unclassified	probably benign
R3749:Terb1	UTSW	8	105,223,466 (GRCm39)	missense	probably damaging	1.00
R4850:Terb1	UTSW	8	105,212,057 (GRCm39)	missense	probably benign	0.02
R4930:Terb1	UTSW	8	105,174,580 (GRCm39)	missense	probably benign	0.00
R4963:Terb1	UTSW	8	105,208,950 (GRCm39)	missense	probably damaging	1.00
R4969:Terb1	UTSW	8	105,221,795 (GRCm39)	missense	probably benign	0.00
R5100:Terb1	UTSW	8	105,221,805 (GRCm39)	nonsense	probably null
R5440:Terb1	UTSW	8	105,215,131 (GRCm39)	missense	probably damaging	1.00
R5824:Terb1	UTSW	8	105,212,079 (GRCm39)	missense	probably benign	0.08
R5950:Terb1	UTSW	8	105,215,117 (GRCm39)	critical splice donor site	probably null
R5985:Terb1	UTSW	8	105,208,948 (GRCm39)	missense	probably damaging	1.00
R5985:Terb1	UTSW	8	105,178,439 (GRCm39)	missense	probably benign	0.09
R6320:Terb1	UTSW	8	105,173,831 (GRCm39)	missense	probably damaging	1.00
R6432:Terb1	UTSW	8	105,212,078 (GRCm39)	missense	possibly damaging	0.65
R6473:Terb1	UTSW	8	105,199,669 (GRCm39)	missense	probably damaging	1.00
R6701:Terb1	UTSW	8	105,199,388 (GRCm39)	missense	possibly damaging	0.69
R7013:Terb1	UTSW	8	105,215,222 (GRCm39)	nonsense	probably null
R7064:Terb1	UTSW	8	105,215,186 (GRCm39)	missense	probably benign	0.00
R7237:Terb1	UTSW	8	105,221,959 (GRCm39)	missense	possibly damaging	0.85
R7361:Terb1	UTSW	8	105,195,431 (GRCm39)	missense	probably damaging	1.00
R7549:Terb1	UTSW	8	105,224,716 (GRCm39)	missense	possibly damaging	0.85
R7915:Terb1	UTSW	8	105,173,848 (GRCm39)	missense	possibly damaging	0.59
R8112:Terb1	UTSW	8	105,195,399 (GRCm39)	missense	probably benign	0.32
R8256:Terb1	UTSW	8	105,199,579 (GRCm39)	missense	possibly damaging	0.92
R8329:Terb1	UTSW	8	105,211,003 (GRCm39)	missense	probably damaging	1.00
R8953:Terb1	UTSW	8	105,195,431 (GRCm39)	missense	probably damaging	1.00
R8984:Terb1	UTSW	8	105,212,036 (GRCm39)	missense	possibly damaging	0.94
R9614:Terb1	UTSW	8	105,223,476 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGTCAGTTGCTTGAATACCAACTTC -3'
(R):5'- GCTCCATCTGTCTGTTGGAC -3'

Sequencing Primer
(F):5'- TCTCAGTACTACATATCCAGTCATAC -3'
(R):5'- GTCTGTTGGACATTGAGAATCACAC -3'

Posted On

2021-04-30