Mutagenetix > Incidental Mutation

Incidental Mutation 'R8186:Tbccd1'

634886

Institutional Source

Beutler Lab

Gene Symbol

Tbccd1

Ensembl Gene

ENSMUSG00000004462

Gene Name

TBCC domain containing 1

Synonyms

5730478M09Rik

MMRRC Submission

067609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8186 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22631964-22676419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22637189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 545 (L545P)

Ref Sequence

ENSEMBL: ENSMUSP00000004576 (fasta)

Gene Model

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

AlphaFold

Q640P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000004576
AA Change: L545P

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

SMART Domains

Protein: ENSMUSP00000004576
Gene: ENSMUSG00000004462
AA Change: L545P

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

Meta Mutation Damage Score

0.3139

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	G	A	6: 86,085,002 (GRCm39)	V543M	probably benign	Het
Agl	A	G	3: 116,552,557 (GRCm39)	I459T	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Atg16l2	C	T	7: 100,945,714 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,177,457 (GRCm39)	T1921A	probably damaging	Het
C130073F10Rik	G	A	4: 101,748,031 (GRCm39)	R48*	probably null	Het
Cdc25b	C	T	2: 131,031,050 (GRCm39)	T125M	probably benign	Het
Cdc42bpg	T	A	19: 6,356,895 (GRCm39)	F50L	probably damaging	Het
Chd9	T	A	8: 91,725,233 (GRCm39)	D1187E	unknown	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Cped1	T	C	6: 22,123,587 (GRCm39)	S447P	probably benign	Het
Ddx19a	T	A	8: 111,710,274 (GRCm39)	M109L	probably benign	Het
Def8	C	A	8: 124,188,215 (GRCm39)	Y431*	probably null	Het
Gata4	A	G	14: 63,438,962 (GRCm39)	S373P	probably benign	Het
Gm9837	A	T	11: 53,361,136 (GRCm39)	L26*	probably null	Het
Hspa1b	A	T	17: 35,176,557 (GRCm39)	V476E	probably damaging	Het
Htr5b	G	A	1: 121,456,108 (GRCm39)		probably benign	Het
Hydin	T	C	8: 111,336,277 (GRCm39)	V5018A	probably benign	Het
Ighv1-85	A	G	12: 115,963,923 (GRCm39)	S26P	probably benign	Het
Kics2	T	A	10: 121,581,247 (GRCm39)	F83I	possibly damaging	Het
Lrrc2	A	G	9: 110,789,910 (GRCm39)	K56E	possibly damaging	Het
Macf1	A	T	4: 123,266,219 (GRCm39)	I6793N	probably damaging	Het
Macf1	A	C	4: 123,275,923 (GRCm39)	V6215G	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,716,355 (GRCm39)		probably null	Het
Odad4	A	G	11: 100,454,505 (GRCm39)	D430G	probably benign	Het
Oprk1	A	T	1: 5,672,540 (GRCm39)	M226L	probably benign	Het
Or1e1	T	C	11: 73,245,247 (GRCm39)	S223P	possibly damaging	Het
Phf2	A	G	13: 48,961,227 (GRCm39)	L821P	unknown	Het
Rdh7	C	A	10: 127,723,284 (GRCm39)		probably null	Het
Rpl11	A	G	4: 135,778,968 (GRCm39)	V74A	possibly damaging	Het
Safb2	G	A	17: 56,873,051 (GRCm39)	R790C	possibly damaging	Het
Sgpp2	T	C	1: 78,393,609 (GRCm39)	F204S	probably benign	Het
Sgsm3	A	C	15: 80,893,643 (GRCm39)	I426L	possibly damaging	Het
Speer1b	A	G	5: 11,823,926 (GRCm39)	D158G	probably damaging	Het
Styxl2	A	G	1: 165,927,648 (GRCm39)	S655P	probably damaging	Het
Toporsl	T	A	4: 52,610,489 (GRCm39)	F127L	probably damaging	Het
Ttn	T	G	2: 76,749,256 (GRCm39)	Q3931P	probably damaging	Het
Tuba1c	C	A	15: 98,935,396 (GRCm39)	L286I	probably benign	Het
Usp48	A	G	4: 137,348,507 (GRCm39)	R528G	possibly damaging	Het
Utrn	T	C	10: 12,573,867 (GRCm39)	T1068A	probably benign	Het
Vmn2r103	A	T	17: 20,032,205 (GRCm39)	T660S	probably damaging	Het
Vmn2r105	G	T	17: 20,444,880 (GRCm39)	Y537*	probably null	Het
Vmn2r88	A	T	14: 51,656,157 (GRCm39)	I744F		Het
Wnt9b	T	C	11: 103,621,601 (GRCm39)	E352G	probably damaging	Het
Zfp78	A	G	7: 6,376,228 (GRCm39)	N46D	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
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
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'- AAATGTGGGTATGTGTCTACCC -3'
(R):5'- GCCTTGAACACAGTGAGAACCG -3'

Sequencing Primer
(F):5'- ATGTGTCTACCCGTGGGC -3'
(R):5'- GGGTAACTGCACATAGTCATTTAG -3'

Posted On

2020-07-13