Mutagenetix > Incidental Mutation

Incidental Mutation 'R3864:Tbc1d2'

276452

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d2

Ensembl Gene

ENSMUSG00000039813

Gene Name

TBC1 domain family, member 2

Synonyms

PARIS-1, LOC381605, PARIS1, A630005A06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R3864 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46604390-46650209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46620484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 442 (D442G)

Ref Sequence

ENSEMBL: ENSMUSP00000081670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084621]

AlphaFold

B1AVH7

Predicted Effect

probably benign
Transcript: ENSMUST00000084621
AA Change: D442G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: D442G

Domain	Start	End	E-Value	Type
PH	44	143	1.94e-11	SMART
low complexity region	147	159	N/A	INTRINSIC
low complexity region	165	180	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
coiled coil region	302	333	N/A	INTRINSIC
coiled coil region	362	394	N/A	INTRINSIC
low complexity region	398	410	N/A	INTRINSIC
Blast:TBC	454	491	3e-14	BLAST
low complexity region	526	539	N/A	INTRINSIC
Blast:TBC	557	591	3e-10	BLAST
TBC	616	834	1.63e-60	SMART
coiled coil region	869	906	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	A	11: 116,487,642 (GRCm39)	G114S	probably damaging	Het
Abcc4	G	A	14: 118,853,827 (GRCm39)	A360V	probably benign	Het
Catsper1	T	C	19: 5,386,204 (GRCm39)	S146P	possibly damaging	Het
Ccny	A	T	18: 9,449,604 (GRCm39)	L23Q	probably damaging	Het
Chml	A	T	1: 175,515,810 (GRCm39)	V37D	probably damaging	Het
Cspg4b	A	G	13: 113,459,485 (GRCm39)	T1339A	possibly damaging	Het
D430041D05Rik	T	C	2: 104,044,522 (GRCm39)	I825M	possibly damaging	Het
Dhx40	A	T	11: 86,680,071 (GRCm39)	V422E	possibly damaging	Het
Evi2	T	A	11: 79,406,472 (GRCm39)	I368F	probably benign	Het
Gm10309	A	C	17: 86,806,421 (GRCm39)		probably benign	Het
Greb1	G	A	12: 16,752,421 (GRCm39)	R974W	probably damaging	Het
Grhl1	T	C	12: 24,665,929 (GRCm39)	*619Q	probably null	Het
Ighv1-7	A	G	12: 114,502,266 (GRCm39)	I67T	probably damaging	Het
Lats1	T	C	10: 7,581,510 (GRCm39)	V765A	probably damaging	Het
Lrrd1	G	A	5: 3,901,248 (GRCm39)	V518I	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Marchf11	C	T	15: 26,387,952 (GRCm39)	A269V	probably damaging	Het
Mep1b	A	G	18: 21,217,226 (GRCm39)	N115S	possibly damaging	Het
Mfn1	A	G	3: 32,617,241 (GRCm39)	D41G	possibly damaging	Het
Naa25	T	A	5: 121,547,260 (GRCm39)	M132K	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pcdhb3	A	G	18: 37,436,329 (GRCm39)	E765G	probably damaging	Het
Scfd2	T	G	5: 74,558,381 (GRCm39)	K499Q	possibly damaging	Het
Wwc1	T	A	11: 35,801,143 (GRCm39)	D98V	probably damaging	Het
Zfp426	G	A	9: 20,381,382 (GRCm39)	T521I	possibly damaging	Het

Other mutations in Tbc1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Tbc1d2	APN	4	46,649,745 (GRCm39)	missense	probably benign	0.04
IGL01748:Tbc1d2	APN	4	46,616,306 (GRCm39)	missense	probably damaging	0.99
IGL01863:Tbc1d2	APN	4	46,607,064 (GRCm39)	missense	possibly damaging	0.66
IGL02014:Tbc1d2	APN	4	46,649,778 (GRCm39)	missense	possibly damaging	0.83
IGL02025:Tbc1d2	APN	4	46,620,713 (GRCm39)	missense	probably damaging	1.00
IGL02551:Tbc1d2	APN	4	46,649,916 (GRCm39)	missense	probably benign
IGL02571:Tbc1d2	APN	4	46,628,370 (GRCm39)	missense	probably benign	0.00
IGL03149:Tbc1d2	APN	4	46,637,619 (GRCm39)	missense	probably benign	0.31
R0347:Tbc1d2	UTSW	4	46,620,574 (GRCm39)	missense	possibly damaging	0.82
R0374:Tbc1d2	UTSW	4	46,649,913 (GRCm39)	missense	possibly damaging	0.95
R0522:Tbc1d2	UTSW	4	46,649,806 (GRCm39)	missense	probably damaging	1.00
R0883:Tbc1d2	UTSW	4	46,609,003 (GRCm39)	nonsense	probably null
R1227:Tbc1d2	UTSW	4	46,620,629 (GRCm39)	missense	probably benign	0.00
R1464:Tbc1d2	UTSW	4	46,606,491 (GRCm39)	missense	possibly damaging	0.51
R1464:Tbc1d2	UTSW	4	46,606,491 (GRCm39)	missense	possibly damaging	0.51
R1658:Tbc1d2	UTSW	4	46,614,207 (GRCm39)	missense	probably damaging	1.00
R1959:Tbc1d2	UTSW	4	46,606,419 (GRCm39)	missense	probably benign	0.44
R2108:Tbc1d2	UTSW	4	46,637,652 (GRCm39)	missense	possibly damaging	0.62
R4475:Tbc1d2	UTSW	4	46,609,080 (GRCm39)	missense	possibly damaging	0.92
R5112:Tbc1d2	UTSW	4	46,606,503 (GRCm39)	missense	probably damaging	1.00
R5127:Tbc1d2	UTSW	4	46,633,639 (GRCm39)	intron	probably benign
R5215:Tbc1d2	UTSW	4	46,614,006 (GRCm39)	missense	probably benign	0.42
R5475:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5550:Tbc1d2	UTSW	4	46,646,138 (GRCm39)	missense	probably benign	0.00
R5558:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5564:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5599:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5600:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5699:Tbc1d2	UTSW	4	46,616,298 (GRCm39)	missense	probably benign	0.31
R5866:Tbc1d2	UTSW	4	46,637,715 (GRCm39)	missense	possibly damaging	0.80
R5909:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5911:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5980:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6194:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6195:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6209:Tbc1d2	UTSW	4	46,614,068 (GRCm39)	missense	probably damaging	1.00
R6211:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6232:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6242:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6261:Tbc1d2	UTSW	4	46,637,692 (GRCm39)	missense	possibly damaging	0.47
R6273:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6274:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6285:Tbc1d2	UTSW	4	46,615,045 (GRCm39)	missense	possibly damaging	0.49
R6333:Tbc1d2	UTSW	4	46,620,736 (GRCm39)	missense	possibly damaging	0.64
R6369:Tbc1d2	UTSW	4	46,614,420 (GRCm39)	missense	probably benign	0.41
R6912:Tbc1d2	UTSW	4	46,649,712 (GRCm39)	missense	probably damaging	1.00
R7428:Tbc1d2	UTSW	4	46,649,965 (GRCm39)	missense	probably benign	0.02
R7775:Tbc1d2	UTSW	4	46,637,746 (GRCm39)	splice site	probably null
R7824:Tbc1d2	UTSW	4	46,637,746 (GRCm39)	splice site	probably null
R8069:Tbc1d2	UTSW	4	46,649,737 (GRCm39)	missense	possibly damaging	0.81
R8135:Tbc1d2	UTSW	4	46,609,071 (GRCm39)	missense	probably benign	0.31
R8203:Tbc1d2	UTSW	4	46,606,476 (GRCm39)	missense	probably damaging	1.00
R8271:Tbc1d2	UTSW	4	46,649,791 (GRCm39)	missense	possibly damaging	0.88
R8690:Tbc1d2	UTSW	4	46,615,106 (GRCm39)	missense	possibly damaging	0.95
R9025:Tbc1d2	UTSW	4	46,607,062 (GRCm39)	missense	probably damaging	1.00
R9236:Tbc1d2	UTSW	4	46,609,029 (GRCm39)	missense	probably benign	0.08
R9622:Tbc1d2	UTSW	4	46,609,065 (GRCm39)	missense	probably damaging	1.00
R9776:Tbc1d2	UTSW	4	46,650,007 (GRCm39)	missense	probably benign	0.00
X0023:Tbc1d2	UTSW	4	46,615,037 (GRCm39)	missense	probably benign	0.00
X0063:Tbc1d2	UTSW	4	46,606,492 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbc1d2	UTSW	4	46,650,016 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCATTGGGTCTGCACAAGC -3'
(R):5'- AGATCGCTGAGCTGAACCAG -3'

Sequencing Primer
(F):5'- ACCTAGTTCTGGTTTGGATGTCCC -3'
(R):5'- CAGAGGGTGGAGGCTCTG -3'

Posted On

2015-04-06