Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03348:Tbc1d12'

419553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d12

Ensembl Gene

ENSMUSG00000048720

Gene Name

TBC1D12: TBC1 domain family, member 12

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.619) question?

Stock #

IGL03348

Quality Score

Status

Chromosome

Chromosomal Location

38825035-38908103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38905064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 593 (T593I)

Ref Sequence

ENSEMBL: ENSMUSP00000037884 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000037302
AA Change: T593I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: T593I

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	A	C	8: 100,148,324 (GRCm39)		noncoding transcript	Het
Actmap	T	G	7: 26,896,545 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,647,177 (GRCm39)	N3121S	possibly damaging	Het
Aldh16a1	C	T	7: 44,791,399 (GRCm39)	R102Q	possibly damaging	Het
Atp9b	A	T	18: 80,879,637 (GRCm39)	I346K	possibly damaging	Het
Baiap2l1	T	C	5: 144,215,341 (GRCm39)	K388R	probably benign	Het
Cfap65	A	C	1: 74,966,778 (GRCm39)	I303S	probably damaging	Het
Chd5	C	T	4: 152,461,142 (GRCm39)	P1244L	probably damaging	Het
Col12a1	A	G	9: 79,600,712 (GRCm39)	S791P	possibly damaging	Het
Ctsz	T	A	2: 174,270,490 (GRCm39)	I231F	probably damaging	Het
Dnah8	A	G	17: 30,965,960 (GRCm39)	T2431A	probably damaging	Het
Eif4b	T	C	15: 102,001,466 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,483,809 (GRCm39)	I67V	possibly damaging	Het
Exoc1	T	A	5: 76,683,440 (GRCm39)	V55D	probably damaging	Het
Exosc8	A	T	3: 54,640,143 (GRCm39)	D72E	possibly damaging	Het
F5	C	T	1: 164,021,721 (GRCm39)	P1399S	possibly damaging	Het
Fmo1	T	A	1: 162,677,720 (GRCm39)	N132I	possibly damaging	Het
Fndc1	T	A	17: 7,991,479 (GRCm39)	H739L	unknown	Het
Glb1l2	T	C	9: 26,676,976 (GRCm39)	D415G	probably benign	Het
Gphn	T	A	12: 78,673,893 (GRCm39)	H498Q	probably damaging	Het
Lrrc56	A	G	7: 140,787,153 (GRCm39)	N342S	probably benign	Het
Mbnl3	G	A	X: 50,253,425 (GRCm39)	T16I	probably damaging	Het
Mrps5	T	G	2: 127,443,305 (GRCm39)	H294Q	probably damaging	Het
Neu4	A	G	1: 93,952,696 (GRCm39)	Y355C	possibly damaging	Het
Obscn	A	T	11: 58,941,188 (GRCm39)	D5105E	probably damaging	Het
Or4ac1-ps1	T	C	2: 88,370,485 (GRCm39)		noncoding transcript	Het
Or4f56	C	A	2: 111,703,493 (GRCm39)	A236S	probably damaging	Het
Or4k15b	A	G	14: 50,272,212 (GRCm39)	I216T	probably benign	Het
Or5p73	A	G	7: 108,064,615 (GRCm39)	D28G	probably benign	Het
Parp1	T	A	1: 180,405,272 (GRCm39)		probably benign	Het
Plac1	A	T	X: 52,159,517 (GRCm39)	N64K	probably damaging	Het
Plcd1	C	A	9: 118,901,558 (GRCm39)	K655N	possibly damaging	Het
Psme4	T	C	11: 30,826,796 (GRCm39)	S1772P	probably damaging	Het
Shcbp1	C	T	8: 4,815,089 (GRCm39)	V130I	probably benign	Het
Slc25a11	T	C	11: 70,536,170 (GRCm39)		probably benign	Het
Svep1	C	T	4: 58,113,635 (GRCm39)	G1004E	probably damaging	Het
Tars2	T	C	3: 95,647,580 (GRCm39)		probably null	Het
Tcerg1l	T	A	7: 137,815,100 (GRCm39)	E526D	probably damaging	Het
Tmcc3	G	A	10: 94,414,942 (GRCm39)	V215M	possibly damaging	Het
Trappc8	T	C	18: 20,985,838 (GRCm39)	D601G	probably damaging	Het
Trp53bp2	T	A	1: 182,281,313 (GRCm39)	N971K	probably damaging	Het
Ube2g2	A	T	10: 77,466,711 (GRCm39)	E36D	probably benign	Het
Uggt2	T	A	14: 119,308,300 (GRCm39)	R360S	probably benign	Het
Utp20	A	G	10: 88,594,179 (GRCm39)	V2182A	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
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
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

Posted On

2016-08-02