Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4402001:Tbccd1'

555546

Institutional Source

Beutler Lab

Gene Symbol

Tbccd1

Ensembl Gene

ENSMUSG00000004462

Gene Name

TBCC domain containing 1

Synonyms

5730478M09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4402001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22631964-22676419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22640873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 501 (I501M)

Ref Sequence

ENSEMBL: ENSMUSP00000004576 (fasta)

Gene Model

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

AlphaFold

Q640P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000004576
AA Change: I501M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004576
Gene: ENSMUSG00000004462
AA Change: I501M

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

probably benign
Transcript: ENSMUST00000231229

Predicted Effect

probably damaging
Transcript: ENSMUST00000232075
AA Change: I501M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000232251

Predicted Effect

probably benign
Transcript: ENSMUST00000232345

Coding Region Coverage

1x: 92.8%
3x: 90.3%
10x: 83.2%
20x: 68.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	G	14: 59,380,084 (GRCm39)	L71F	probably damaging	Het
Adamts9	C	T	6: 92,849,328 (GRCm39)	V1044I	probably benign	Het
Alcam	T	C	16: 52,115,497 (GRCm39)	Y207C	probably damaging	Het
Aldh4a1	C	A	4: 139,369,502 (GRCm39)	S351*	probably null	Het
Aoah	C	A	13: 20,978,680 (GRCm39)	S39R	probably benign	Het
Arcn1	A	T	9: 44,656,899 (GRCm39)	V421E	possibly damaging	Het
Ccdc18	A	G	5: 108,306,485 (GRCm39)	E300G	possibly damaging	Het
Cdk2ap2	C	A	19: 4,148,557 (GRCm39)	R126S	probably damaging	Het
Dcun1d4	A	G	5: 73,668,276 (GRCm39)	I39V	probably benign	Het
Fam53b	A	T	7: 132,361,746 (GRCm39)	I94N	probably damaging	Het
Fam83g	A	G	11: 61,594,422 (GRCm39)	H652R	probably damaging	Het
Fanca	A	T	8: 124,039,803 (GRCm39)	M157K	possibly damaging	Het
Flt1	A	T	5: 147,615,049 (GRCm39)	I299N	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gns	A	G	10: 121,212,611 (GRCm39)	Y191C	probably damaging	Het
Grin2a	T	C	16: 9,462,063 (GRCm39)	T690A	possibly damaging	Het
Gsk3b	C	T	16: 37,909,763 (GRCm39)		probably benign	Het
Igsf10	A	G	3: 59,233,000 (GRCm39)	V1911A	probably benign	Het
Igsf3	A	G	3: 101,334,393 (GRCm39)	K157E	probably benign	Het
Inpp5a	T	C	7: 139,091,369 (GRCm39)	Y118H	probably benign	Het
Kmt2a	A	G	9: 44,752,359 (GRCm39)	V1413A	unknown	Het
Mettl9	T	A	7: 120,656,440 (GRCm39)	V190E	probably damaging	Het
Mrps9	T	C	1: 42,935,258 (GRCm39)	L188P	probably benign	Het
Myo9a	A	T	9: 59,777,719 (GRCm39)	R1158S	possibly damaging	Het
Nacad	T	G	11: 6,548,621 (GRCm39)	Q1371P	probably benign	Het
Ncoa1	T	C	12: 4,344,987 (GRCm39)	M787V	probably benign	Het
Noxred1	A	T	12: 87,273,855 (GRCm39)	I62K	probably benign	Het
Or1j4	A	T	2: 36,740,316 (GRCm39)	H86L	probably benign	Het
Or2d3b	T	A	7: 106,514,294 (GRCm39)	D296E	possibly damaging	Het
Or2y17	A	G	11: 49,232,226 (GRCm39)	Y289C	probably damaging	Het
Or52d1	A	G	7: 103,755,657 (GRCm39)	Y57C	probably damaging	Het
Otud6b	A	G	4: 14,818,185 (GRCm39)	Y239H	probably damaging	Het
Pank1	A	G	19: 34,818,366 (GRCm39)	Y233H	probably damaging	Het
Pccb	G	T	9: 100,877,645 (GRCm39)	D286E	probably benign	Het
Plek	A	C	11: 16,940,121 (GRCm39)	L196R	probably benign	Het
Pou6f2	T	C	13: 18,299,931 (GRCm39)	H576R		Het
Rbm47	T	A	5: 66,184,354 (GRCm39)	Y83F	probably damaging	Het
Rbm6	A	T	9: 107,665,049 (GRCm39)	Y787N	probably damaging	Het
Slc8a2	C	A	7: 15,868,419 (GRCm39)	A217E	probably damaging	Het
Suox	G	A	10: 128,507,164 (GRCm39)	A288V	probably damaging	Het
Tjp2	C	A	19: 24,075,493 (GRCm39)	G1042*	probably null	Het
Tmtc2	T	C	10: 105,249,268 (GRCm39)	Y155C	probably damaging	Het
Usp7	T	C	16: 8,516,359 (GRCm39)	N600S	probably benign	Het
Zer1	T	C	2: 29,991,132 (GRCm39)	I699V	probably damaging	Het
Zfp142	A	G	1: 74,618,687 (GRCm39)	F227S	probably 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
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
R8315:Tbccd1	UTSW	16	22,641,564 (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'- AGCATCTTCTAGCCACACAG -3'
(R):5'- GCCTTGCTACAGTGCCTAAC -3'

Sequencing Primer
(F):5'- TCTAGAATGCTAACCTGGGACTC -3'
(R):5'- AGTGCCTAACTATTGGGATAACCC -3'

Posted On

2019-06-07