Mutagenetix > Incidental Mutation

Incidental Mutation 'R5781:Tbc1d12'

447760

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d12

Ensembl Gene

ENSMUSG00000048720

Gene Name

TBC1D12: TBC1 domain family, member 12

Synonyms

MMRRC Submission

043378-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R5781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38825035-38908103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38871127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 297 (T297P)

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: T297P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: T297P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158920

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,992,813 (GRCm39)	L1617P	probably damaging	Het
Abhd16b	T	C	2: 181,135,947 (GRCm39)	V283A	probably damaging	Het
Adamts19	G	T	18: 58,971,040 (GRCm39)	R208L	possibly damaging	Het
Adamts4	T	C	1: 171,078,584 (GRCm39)	I56T	possibly damaging	Het
Alpk1	A	C	3: 127,473,684 (GRCm39)	V773G	possibly damaging	Het
Arhgap10	G	T	8: 78,177,336 (GRCm39)	Q100K	possibly damaging	Het
Arhgef18	T	A	8: 3,489,439 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,564,377 (GRCm39)	H277L	probably benign	Het
Ascc3	T	A	10: 50,514,074 (GRCm39)	V291E	probably damaging	Het
Cnot6l	A	C	5: 96,234,024 (GRCm39)	V329G	probably benign	Het
Col14a1	A	G	15: 55,286,908 (GRCm39)	T910A	unknown	Het
Dhdds	G	A	4: 133,724,141 (GRCm39)	L58F	probably damaging	Het
Dsc2	A	G	18: 20,165,567 (GRCm39)	I846T	probably benign	Het
Evc	A	T	5: 37,483,914 (GRCm39)	S129T	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fyco1	A	G	9: 123,623,898 (GRCm39)	V1377A	probably damaging	Het
Haus6	C	T	4: 86,519,500 (GRCm39)	A203T	possibly damaging	Het
Hkdc1	T	G	10: 62,253,712 (GRCm39)	D23A	probably damaging	Het
Hpdl	C	T	4: 116,677,775 (GRCm39)	V229M	probably damaging	Het
Hspa12a	T	C	19: 58,810,518 (GRCm39)	Y175C	probably damaging	Het
Hyal1	C	T	9: 107,454,866 (GRCm39)	P59S	probably damaging	Het
Itpr1	G	A	6: 108,487,699 (GRCm39)	C2374Y	probably benign	Het
Kmt2a	A	T	9: 44,759,139 (GRCm39)	Y114*	probably null	Het
Mc2r	A	T	18: 68,540,468 (GRCm39)	I275K	probably damaging	Het
Mc2r	A	T	18: 68,540,466 (GRCm39)	Y276N	possibly damaging	Het
Mlycd	A	G	8: 120,137,019 (GRCm39)	Y413C	probably damaging	Het
Mocs2	T	G	13: 114,957,455 (GRCm39)	S86R	probably damaging	Het
Msx2	C	A	13: 53,626,644 (GRCm39)	A35S	probably benign	Het
Or6c201	A	T	10: 128,969,016 (GRCm39)	L207H	probably damaging	Het
Pla2g4f	C	A	2: 120,135,504 (GRCm39)	S390I	probably damaging	Het
Plcl1	C	T	1: 55,735,148 (GRCm39)	A163V	possibly damaging	Het
Pnn	T	C	12: 59,118,605 (GRCm39)	V396A	probably damaging	Het
Rbmxl1	G	A	8: 79,232,270 (GRCm39)		probably benign	Het
Recql	G	T	6: 142,311,344 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,699,089 (GRCm39)	N1195K	probably benign	Het
Rfwd3	G	A	8: 111,999,716 (GRCm39)	T754M	probably benign	Het
Sctr	A	G	1: 119,959,350 (GRCm39)	T98A	probably damaging	Het
Sdk1	T	A	5: 141,921,803 (GRCm39)	D6E	probably benign	Het
Smpdl3a	T	A	10: 57,684,034 (GRCm39)	I264K	possibly damaging	Het
Spag6	A	G	2: 18,736,804 (GRCm39)	I154V	probably benign	Het
Tgfb1	A	G	7: 25,396,385 (GRCm39)	D226G	probably benign	Het
Ubr3	G	T	2: 69,846,588 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,195,407 (GRCm39)	Y1210H	probably damaging	Het
Ubr5	T	C	15: 38,006,785 (GRCm39)	T1157A	probably benign	Het
Vmn2r120	T	G	17: 57,831,938 (GRCm39)	T284P	probably benign	Het
Vps13b	G	T	15: 35,794,181 (GRCm39)	A2286S	probably damaging	Het
Zcchc14	A	T	8: 122,331,332 (GRCm39)		probably benign	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	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
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
R8931:Tbc1d12	UTSW	19	38,854,098 (GRCm39)	missense	probably benign
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'- AGAGTAGTTCTGTCCTCCTTGC -3'
(R):5'- GCCAACCTGGGTTAAATGAGG -3'

Sequencing Primer
(F):5'- TGCTCCTGACACTTTTGGTAC -3'
(R):5'- ACCTGGGTTAAATGAGGTTCTATCTC -3'

Posted On

2016-12-15