Mutagenetix > Incidental Mutation

Incidental Mutation 'R6663:Tbccd1'

526891

Institutional Source

Beutler Lab

Gene Symbol

Tbccd1

Ensembl Gene

ENSMUSG00000004462

Gene Name

TBCC domain containing 1

Synonyms

5730478M09Rik

MMRRC Submission

044783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6663 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

22813214-22857669 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

AT to ATGT at 22834028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004576] [ENSMUST00000232075] [ENSMUST00000232251] [ENSMUST00000232345]

AlphaFold

Q640P7

Predicted Effect

probably null
Transcript: ENSMUST00000004576

SMART Domains

Protein: ENSMUSP00000004576
Gene: ENSMUSG00000004462

Domain	Start	End	E-Value	Type
low complexity region	118	129	N/A	INTRINSIC
low complexity region	144	160	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
CARP	337	374	5.55e-5	SMART
CARP	375	409	8.75e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232009

Predicted Effect

probably null
Transcript: ENSMUST00000232075

Predicted Effect

probably null
Transcript: ENSMUST00000232251

Predicted Effect

probably null
Transcript: ENSMUST00000232345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232681

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	G	5: 90,264,064	S1314P	probably damaging	Het
Btbd3	T	A	2: 138,279,083	I59K	probably benign	Het
Clcn2	A	G	16: 20,703,245	*865R	probably null	Het
Col22a1	T	C	15: 71,820,059	Q749R	unknown	Het
Cpsf2	T	C	12: 101,999,593	Y606H	probably damaging	Het
Csn1s1	T	C	5: 87,675,740	V154A	probably benign	Het
Cux1	T	A	5: 136,485,847	E23V	probably damaging	Het
Cyp2j9	C	A	4: 96,579,442	W269L	probably benign	Het
Dbf4	T	C	5: 8,403,184	M273V	probably benign	Het
Dnhd1	A	G	7: 105,685,692		probably null	Het
Fezf1	A	G	6: 23,247,528	S183P	probably damaging	Het
Irx2	A	G	13: 72,629,129	Y23C	probably damaging	Het
Itga1	A	T	13: 114,974,105	N983K	probably benign	Het
Kifc1	A	G	17: 33,881,456		probably benign	Het
Lrrc14b	T	C	13: 74,361,361	N309S	probably damaging	Het
Lyst	A	T	13: 13,664,116		probably null	Het
Map1b	T	C	13: 99,430,022	T2064A	unknown	Het
Mark3	T	A	12: 111,575,083	N11K	probably benign	Het
Med6	T	A	12: 81,581,875	D80V	possibly damaging	Het
Mfhas1	A	G	8: 35,589,118	E249G	probably damaging	Het
Mroh2b	A	G	15: 4,947,935	I1256M	probably benign	Het
Nkx2-9	G	T	12: 56,611,938	R164S	probably benign	Het
Olfr1181	T	A	2: 88,423,350	N225I	probably benign	Het
Phf10	T	C	17: 14,959,512	D33G	probably null	Het
Plekha5	A	G	6: 140,577,290	M719V	probably damaging	Het
Pln	A	G	10: 53,343,696		probably benign	Het
Prg4	G	A	1: 150,455,101		probably benign	Het
Slc35b3	A	G	13: 38,954,136	L99P	probably damaging	Het
Ube2j1	C	T	4: 33,045,198	S157L	probably damaging	Het
Zfp462	A	G	4: 55,008,933	T300A	possibly damaging	Het
Zfp668	G	A	7: 127,867,769	R212C	probably damaging	Het
Zufsp	A	G	10: 33,949,435	M17T	possibly damaging	Het

Other mutations in Tbccd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Tbccd1	APN	16	22822544	missense	possibly damaging	0.81
PIT4243001:Tbccd1	UTSW	16	22822337	missense	probably damaging	1.00
PIT4402001:Tbccd1	UTSW	16	22822123	missense	probably damaging	1.00
R0055:Tbccd1	UTSW	16	22841905	missense	probably damaging	1.00
R0092:Tbccd1	UTSW	16	22826094	missense	possibly damaging	0.84
R0894:Tbccd1	UTSW	16	22822245	missense	probably benign	0.27
R1183:Tbccd1	UTSW	16	22841769	missense	probably benign	0.01
R1795:Tbccd1	UTSW	16	22822245	missense	probably benign	0.27
R1813:Tbccd1	UTSW	16	22822521	missense	probably benign
R2049:Tbccd1	UTSW	16	22818541	splice site	probably null
R2131:Tbccd1	UTSW	16	22841989	missense	probably benign	0.00
R3964:Tbccd1	UTSW	16	22841773	missense	probably damaging	1.00
R4201:Tbccd1	UTSW	16	22825948	missense	probably damaging	0.96
R4602:Tbccd1	UTSW	16	22818535	splice site	probably null
R4921:Tbccd1	UTSW	16	22841899	missense	probably benign	0.02
R6493:Tbccd1	UTSW	16	22822466	missense	probably damaging	1.00
R6554:Tbccd1	UTSW	16	22822124	missense	probably damaging	0.99
R7220:Tbccd1	UTSW	16	22833997	missense	probably benign	0.21
R7431:Tbccd1	UTSW	16	22825813	missense	probably benign	0.03
R8090:Tbccd1	UTSW	16	22842055	missense	probably benign	0.00
R8186:Tbccd1	UTSW	16	22818439	missense	probably damaging	1.00
R8315:Tbccd1	UTSW	16	22822814	missense	probably damaging	1.00
R8545:Tbccd1	UTSW	16	22834029	missense	probably benign	0.09
R8688:Tbccd1	UTSW	16	22822458	missense	possibly damaging	0.54
R9522:Tbccd1	UTSW	16	22822499	missense	possibly damaging	0.58
R9775:Tbccd1	UTSW	16	22833916	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACTCATTGTGTTTGACAGGTTG -3'
(R):5'- TGGTTTCCAGAAGTGACTCCAG -3'

Sequencing Primer
(F):5'- AGCATGCTCTACAATGCCTGG -3'
(R):5'- CCAGAAGTGACTCCAGTTATGTAG -3'

Posted On

2018-07-23