Mutagenetix > Incidental Mutation

Incidental Mutation 'R8931:Tbc1d12'

680341

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d12

Ensembl Gene

ENSMUSG00000048720

Gene Name

TBC1D12: TBC1 domain family, member 12

Synonyms

MMRRC Submission

068775-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R8931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38825035-38908103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38854098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 260 (V260A)

Ref Sequence

ENSEMBL: ENSMUSP00000037884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037302]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037302
AA Change: V260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: V260A

Domain	Start	End	E-Value	Type
low complexity region	39	58	N/A	INTRINSIC
low complexity region	67	95	N/A	INTRINSIC
low complexity region	110	123	N/A	INTRINSIC
low complexity region	161	177	N/A	INTRINSIC
low complexity region	211	224	N/A	INTRINSIC
low complexity region	227	242	N/A	INTRINSIC
Blast:TBC	321	371	7e-14	BLAST
TBC	404	638	1.05e-54	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	G	C	17: 13,147,405 (GRCm39)	P204R	probably damaging	Het
Aldh3b1	A	G	19: 3,968,803 (GRCm39)	I250T	possibly damaging	Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Arhgef19	T	C	4: 140,976,603 (GRCm39)	V455A	probably damaging	Het
BC051019	T	C	7: 109,315,286 (GRCm39)	E323G	probably damaging	Het
Bzw2	T	C	12: 36,184,943 (GRCm39)	N2S	possibly damaging	Het
Calm3	G	C	7: 16,651,398 (GRCm39)	F66L	probably damaging	Het
Carmil1	T	A	13: 24,338,704 (GRCm39)	T191S	probably benign	Het
Cemip2	T	A	19: 21,770,323 (GRCm39)	S104T	probably benign	Het
Cep170	A	T	1: 176,597,377 (GRCm39)	C389S	probably benign	Het
Clhc1	C	T	11: 29,510,533 (GRCm39)	Q195*	probably null	Het
Cttnbp2	A	G	6: 18,434,808 (GRCm39)	L350P	probably benign	Het
Cyp7a1	T	C	4: 6,271,238 (GRCm39)	E306G	possibly damaging	Het
Ddx25	T	C	9: 35,465,864 (GRCm39)	N119S	possibly damaging	Het
Ephx2	G	T	14: 66,322,441 (GRCm39)		probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fbln2	A	T	6: 91,246,072 (GRCm39)	I973F	probably damaging	Het
Fbn1	T	C	2: 125,202,095 (GRCm39)	I1259M	probably damaging	Het
Glis1	A	G	4: 107,421,060 (GRCm39)	H92R	probably benign	Het
Gm13283	A	C	4: 88,679,516 (GRCm39)	D169A	probably benign	Het
Gpr61	A	G	3: 108,057,470 (GRCm39)	L397P	probably benign	Het
H4c11	T	A	13: 21,919,369 (GRCm39)	I35N	probably damaging	Het
Hip1	A	T	5: 135,460,297 (GRCm39)		probably benign	Het
Hmgcs2	C	T	3: 98,203,557 (GRCm39)	A222V	probably damaging	Het
Ifna2	G	A	4: 88,601,712 (GRCm39)	T102I	probably benign	Het
Kat6b	T	C	14: 21,674,995 (GRCm39)	S387P	probably damaging	Het
Ldlr	G	A	9: 21,643,108 (GRCm39)	V45M	probably damaging	Het
Mc3r	A	T	2: 172,091,515 (GRCm39)	I246F	possibly damaging	Het
Mug1	G	C	6: 121,861,296 (GRCm39)	A1306P	probably benign	Het
Myo15a	A	G	11: 60,368,020 (GRCm39)	E260G	probably benign	Het
Naa16	A	G	14: 79,582,395 (GRCm39)	Y565H	probably damaging	Het
Ndufaf7	A	G	17: 79,244,950 (GRCm39)	Y23C	possibly damaging	Het
Nop58	G	A	1: 59,731,549 (GRCm39)		probably null	Het
Or6c33	A	T	10: 129,853,769 (GRCm39)	T180S	possibly damaging	Het
Or6c88	A	T	10: 129,406,550 (GRCm39)	T9S	probably benign	Het
Or7g19	T	A	9: 18,855,920 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,971 (GRCm39)	Q531*	probably null	Het
Pik3c2g	A	G	6: 139,821,093 (GRCm39)	T297A	probably benign	Het
Poc1b	T	C	10: 99,028,861 (GRCm39)		probably null	Het
Prb1c	G	A	6: 132,338,897 (GRCm39)	P107L		Het
Prokr2	A	G	2: 132,215,996 (GRCm39)	V155A	possibly damaging	Het
Rce1	C	T	19: 4,674,094 (GRCm39)		probably benign	Het
Rnf148	A	T	6: 23,654,704 (GRCm39)	N97K	possibly damaging	Het
Setbp1	A	G	18: 78,899,723 (GRCm39)	S1315P	probably benign	Het
Sgcz	A	G	8: 38,107,140 (GRCm39)	V124A	probably damaging	Het
Slc25a2	C	A	18: 37,771,089 (GRCm39)	G147C	probably damaging	Het
Slc28a2b	C	A	2: 122,348,983 (GRCm39)	P303Q		Het
Sod2	T	C	17: 13,227,193 (GRCm39)	L49P	probably damaging	Het
Tcte2	C	A	17: 13,933,410 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,688,637 (GRCm39)	T2317A	probably damaging	Het
Tfcp2	T	C	15: 100,402,298 (GRCm39)	I500V	possibly damaging	Het
Trav14-3	C	A	14: 54,001,112 (GRCm39)	Q108K	probably damaging	Het
Trbv14	T	C	6: 41,112,364 (GRCm39)	Y54H	probably damaging	Het
Trpm3	T	A	19: 22,744,034 (GRCm39)	V337E	probably damaging	Het
Tsbp1	T	C	17: 34,659,328 (GRCm39)		probably benign	Het
Uox	A	T	3: 146,318,047 (GRCm39)	I14F	probably damaging	Het
Wdfy3	A	G	5: 102,065,421 (GRCm39)	V1249A	probably benign	Het
Zfp511	T	C	7: 139,617,194 (GRCm39)	Y97H	probably damaging	Het
Zfp536	G	T	7: 37,268,721 (GRCm39)	Q232K	probably benign	Het
Zng1	T	G	19: 24,932,780 (GRCm39)	K84N	probably damaging	Het

Other mutations in Tbc1d12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Tbc1d12	APN	19	38,884,487 (GRCm39)	missense	possibly damaging	0.83
IGL01583:Tbc1d12	APN	19	38,871,176 (GRCm39)	missense	probably benign	0.12
IGL01667:Tbc1d12	APN	19	38,902,744 (GRCm39)	splice site	probably benign
IGL02207:Tbc1d12	APN	19	38,905,091 (GRCm39)	missense	probably damaging	1.00
IGL03348:Tbc1d12	APN	19	38,905,064 (GRCm39)	missense	probably damaging	1.00
R0844:Tbc1d12	UTSW	19	38,825,515 (GRCm39)	missense	probably benign	0.02
R0919:Tbc1d12	UTSW	19	38,902,493 (GRCm39)	missense	possibly damaging	0.49
R1440:Tbc1d12	UTSW	19	38,902,796 (GRCm39)	missense	possibly damaging	0.53
R1845:Tbc1d12	UTSW	19	38,899,529 (GRCm39)	missense	probably damaging	0.99
R2374:Tbc1d12	UTSW	19	38,825,614 (GRCm39)	missense	possibly damaging	0.87
R3499:Tbc1d12	UTSW	19	38,884,478 (GRCm39)	missense	possibly damaging	0.92
R4704:Tbc1d12	UTSW	19	38,889,781 (GRCm39)	missense	probably damaging	1.00
R4965:Tbc1d12	UTSW	19	38,854,169 (GRCm39)	nonsense	probably null
R5089:Tbc1d12	UTSW	19	38,905,232 (GRCm39)	nonsense	probably null
R5781:Tbc1d12	UTSW	19	38,871,127 (GRCm39)	missense	probably benign	0.00
R7237:Tbc1d12	UTSW	19	38,887,346 (GRCm39)	missense	probably benign	0.10
R7978:Tbc1d12	UTSW	19	38,905,285 (GRCm39)	missense	probably benign	0.01
R8283:Tbc1d12	UTSW	19	38,825,353 (GRCm39)	missense	probably benign	0.43
R8304:Tbc1d12	UTSW	19	38,825,824 (GRCm39)	missense	possibly damaging	0.52
R8376:Tbc1d12	UTSW	19	38,889,853 (GRCm39)	missense	probably damaging	1.00
R8944:Tbc1d12	UTSW	19	38,899,510 (GRCm39)	missense	probably damaging	0.98
R9206:Tbc1d12	UTSW	19	38,825,442 (GRCm39)	missense	probably benign	0.08
R9252:Tbc1d12	UTSW	19	38,899,477 (GRCm39)	missense	probably benign	0.42
R9258:Tbc1d12	UTSW	19	38,889,823 (GRCm39)	missense	possibly damaging	0.95
R9430:Tbc1d12	UTSW	19	38,884,490 (GRCm39)	missense	probably damaging	1.00
R9434:Tbc1d12	UTSW	19	38,902,461 (GRCm39)	missense	probably benign	0.05
RF010:Tbc1d12	UTSW	19	38,825,384 (GRCm39)	small deletion	probably benign
RF011:Tbc1d12	UTSW	19	38,825,401 (GRCm39)	small deletion	probably benign
RF039:Tbc1d12	UTSW	19	38,825,401 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGACGATTCTACCAAAACATTTGC -3'
(R):5'- CACCTGAGACTCTCATGGTCTC -3'

Sequencing Primer
(F):5'- CTGAACTGACTTATTCCAAGCAGTG -3'
(R):5'- ATGGTCTCACCTGGCAAATG -3'

Posted On

2021-08-31