Mutagenetix > Incidental Mutation

Incidental Mutation 'R8315:Tbccd1'

641654

Institutional Source

Beutler Lab

Gene Symbol

Tbccd1

Ensembl Gene

ENSMUSG00000004462

Gene Name

TBCC domain containing 1

Synonyms

5730478M09Rik

MMRRC Submission

067720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22631964-22676419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22641564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 312 (M312T)

Ref Sequence

ENSEMBL: ENSMUSP00000004576 (fasta)

Gene Model

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

AlphaFold

Q640P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000004576
AA Change: M312T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004576
Gene: ENSMUSG00000004462
AA Change: M312T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,460 (GRCm39)	E3511V	probably null	Het
Abca13	A	G	11: 9,535,502 (GRCm39)	T4709A	probably benign	Het
Aff1	G	T	5: 103,958,956 (GRCm39)	V342F	probably damaging	Het
Ahnak2	T	A	12: 112,745,756 (GRCm39)	Q1698L		Het
Ajap1	G	T	4: 153,516,813 (GRCm39)	T176K	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Cct3	A	G	3: 88,220,564 (GRCm39)	T259A	probably benign	Het
Cdk8	C	T	5: 146,205,061 (GRCm39)	L21F	probably damaging	Het
Cimip4	T	C	15: 78,262,686 (GRCm39)	R262G	probably benign	Het
Csf2rb	G	A	15: 78,231,581 (GRCm39)	G494D	possibly damaging	Het
Cstf3	G	T	2: 104,420,926 (GRCm39)		probably benign	Het
Cyp4f39	A	G	17: 32,701,176 (GRCm39)	D222G	probably benign	Het
Dcp2	T	C	18: 44,529,071 (GRCm39)	I62T	probably benign	Het
Dnaaf9	ATCCTCCTCCTCCTCCTCC	ATCCTCCTCCTCCTCC	2: 130,612,655 (GRCm39)		probably benign	Het
Dpp8	T	C	9: 64,988,133 (GRCm39)	*893Q	probably null	Het
Dpyd	A	T	3: 119,108,534 (GRCm39)	H859L	probably benign	Het
Dst	T	C	1: 34,323,501 (GRCm39)		probably null	Het
Dynlt2a2	A	G	17: 15,190,717 (GRCm39)	Y81H	probably damaging	Het
Egfr	A	G	11: 16,825,027 (GRCm39)	I456V	probably benign	Het
Elf3	A	G	1: 135,184,314 (GRCm39)	F185L	probably benign	Het
Emx1	A	G	6: 85,171,088 (GRCm39)	T164A	possibly damaging	Het
Fras1	G	A	5: 96,891,041 (GRCm39)	V2857M	probably damaging	Het
Gba2	AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA	AAA	4: 43,569,937 (GRCm39)		probably null	Het
Gda	T	A	19: 21,394,435 (GRCm39)	T215S	probably benign	Het
Gm14443	C	T	2: 175,013,640 (GRCm39)		probably null	Het
Gpr152	C	T	19: 4,193,469 (GRCm39)	P337S	probably damaging	Het
H2-T10	A	G	17: 36,429,905 (GRCm39)	I296T	probably benign	Het
Hoxd11	G	A	2: 74,513,466 (GRCm39)	E244K	probably benign	Het
Inka1	C	A	9: 107,861,506 (GRCm39)	S270I	probably damaging	Het
Kazn	C	T	4: 141,869,002 (GRCm39)	D325N		Het
Lama2	T	C	10: 27,298,655 (GRCm39)	N147S	probably damaging	Het
Lamc1	A	T	1: 153,119,167 (GRCm39)	N817K	probably benign	Het
Met	T	C	6: 17,533,956 (GRCm39)	S636P	probably damaging	Het
Mrgpra3	A	T	7: 47,251,051 (GRCm39)	M1K	probably null	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or10ag2	C	A	2: 87,248,995 (GRCm39)	A201D	probably damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Or8c13	T	C	9: 38,091,505 (GRCm39)	T205A	probably benign	Het
Pbx2	A	G	17: 34,811,707 (GRCm39)	I60M	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pla2g4a	T	C	1: 149,761,965 (GRCm39)	N164S	probably benign	Het
Poln	A	G	5: 34,266,717 (GRCm39)	M480T	probably benign	Het
Ppp2r2a	T	C	14: 67,261,177 (GRCm39)	N181S	probably damaging	Het
Ppp3r2	A	C	4: 49,681,705 (GRCm39)	F82V	probably damaging	Het
Prox2	A	G	12: 85,142,182 (GRCm39)	V7A	probably benign	Het
Ptpn3	A	T	4: 57,270,063 (GRCm39)	I33K	possibly damaging	Het
Rad21l	A	T	2: 151,497,160 (GRCm39)	M318K	probably benign	Het
Rftn1	A	G	17: 50,309,665 (GRCm39)	S445P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Rtp4	C	T	16: 23,431,998 (GRCm39)	P177S	possibly damaging	Het
Saa4	T	A	7: 46,379,052 (GRCm39)	N96I	possibly damaging	Het
Shb	A	G	4: 45,489,079 (GRCm39)	Y266H	probably damaging	Het
Slc45a4	T	G	15: 73,461,405 (GRCm39)	Y88S	probably damaging	Het
Tecta	C	T	9: 42,299,121 (GRCm39)		probably null	Het
Tle1	A	T	4: 72,044,428 (GRCm39)	C526*	probably null	Het
Tmem87a	C	T	2: 120,234,441 (GRCm39)	G34D	probably damaging	Het
Trav13d-1	C	A	14: 53,089,059 (GRCm39)	Q23K	probably benign	Het
Txndc11	G	T	16: 10,893,465 (GRCm39)	T755N	possibly damaging	Het
Vmn1r223	A	G	13: 23,434,339 (GRCm39)	D311G	probably damaging	Het
Vmn2r66	T	A	7: 84,643,932 (GRCm39)	Y826F	possibly damaging	Het
Wdr90	A	T	17: 26,064,399 (GRCm39)	M1824K	probably benign	Het
Zfp523	G	A	17: 28,421,562 (GRCm39)	G440D	possibly damaging	Het

Other mutations in Tbccd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Tbccd1	APN	16	22,641,294 (GRCm39)	missense	possibly damaging	0.81
PIT4243001:Tbccd1	UTSW	16	22,641,087 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Tbccd1	UTSW	16	22,640,873 (GRCm39)	missense	probably damaging	1.00
R0055:Tbccd1	UTSW	16	22,660,655 (GRCm39)	missense	probably damaging	1.00
R0092:Tbccd1	UTSW	16	22,644,844 (GRCm39)	missense	possibly damaging	0.84
R0894:Tbccd1	UTSW	16	22,640,995 (GRCm39)	missense	probably benign	0.27
R1183:Tbccd1	UTSW	16	22,660,519 (GRCm39)	missense	probably benign	0.01
R1795:Tbccd1	UTSW	16	22,640,995 (GRCm39)	missense	probably benign	0.27
R1813:Tbccd1	UTSW	16	22,641,271 (GRCm39)	missense	probably benign
R2049:Tbccd1	UTSW	16	22,637,291 (GRCm39)	splice site	probably null
R2131:Tbccd1	UTSW	16	22,660,739 (GRCm39)	missense	probably benign	0.00
R3964:Tbccd1	UTSW	16	22,660,523 (GRCm39)	missense	probably damaging	1.00
R4201:Tbccd1	UTSW	16	22,644,698 (GRCm39)	missense	probably damaging	0.96
R4602:Tbccd1	UTSW	16	22,637,285 (GRCm39)	splice site	probably null
R4921:Tbccd1	UTSW	16	22,660,649 (GRCm39)	missense	probably benign	0.02
R6493:Tbccd1	UTSW	16	22,641,216 (GRCm39)	missense	probably damaging	1.00
R6554:Tbccd1	UTSW	16	22,640,874 (GRCm39)	missense	probably damaging	0.99
R6663:Tbccd1	UTSW	16	22,652,778 (GRCm39)	frame shift	probably null
R7220:Tbccd1	UTSW	16	22,652,747 (GRCm39)	missense	probably benign	0.21
R7431:Tbccd1	UTSW	16	22,644,563 (GRCm39)	missense	probably benign	0.03
R8090:Tbccd1	UTSW	16	22,660,805 (GRCm39)	missense	probably benign	0.00
R8186:Tbccd1	UTSW	16	22,637,189 (GRCm39)	missense	probably damaging	1.00
R8545:Tbccd1	UTSW	16	22,652,779 (GRCm39)	missense	probably benign	0.09
R8688:Tbccd1	UTSW	16	22,641,208 (GRCm39)	missense	possibly damaging	0.54
R9522:Tbccd1	UTSW	16	22,641,249 (GRCm39)	missense	possibly damaging	0.58
R9775:Tbccd1	UTSW	16	22,652,666 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGTCGTCTCCACAGGAC -3'
(R):5'- TTGTAGGCAGGAGCACATG -3'

Sequencing Primer
(F):5'- GCATTTTTCAATTGTCATGGATCTG -3'
(R):5'- GCACATGTAGACGTGTATGAGTG -3'

Posted On

2020-07-28