Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01583:Tbc1d12'

91413

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 #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

38825035-38908103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38871176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 313 (E313G)

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: E313G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: E313G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,126,753 (GRCm39)	M329K	possibly damaging	Het
Abce1	G	A	8: 80,420,076 (GRCm39)	T300M	probably damaging	Het
Acap1	G	A	11: 69,772,503 (GRCm39)	S536L	probably damaging	Het
Adcy5	C	A	16: 35,103,883 (GRCm39)		probably benign	Het
Ap2b1	G	T	11: 83,215,437 (GRCm39)	R127L	possibly damaging	Het
Asxl3	T	G	18: 22,649,654 (GRCm39)	S548A	probably benign	Het
Atm	G	A	9: 53,395,547 (GRCm39)		probably benign	Het
Cep250	T	C	2: 155,818,069 (GRCm39)	V807A	probably damaging	Het
Ces1g	T	A	8: 94,033,587 (GRCm39)	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,070,512 (GRCm39)	Y241H	probably benign	Het
Col9a1	T	C	1: 24,224,225 (GRCm39)	S136P	unknown	Het
Cux2	C	A	5: 122,012,170 (GRCm39)	G422W	probably damaging	Het
Cyp1a2	A	T	9: 57,589,655 (GRCm39)	M53K	probably benign	Het
Ddx20	T	C	3: 105,593,986 (GRCm39)	D123G	probably damaging	Het
Dock4	T	A	12: 40,860,466 (GRCm39)	L1284*	probably null	Het
Dpp9	A	C	17: 56,518,666 (GRCm39)	L46R	probably benign	Het
Elavl1	A	T	8: 4,351,699 (GRCm39)	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,483,144 (GRCm39)	Y1018C	probably damaging	Het
Fubp1	A	G	3: 151,921,261 (GRCm39)	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,501,755 (GRCm39)		probably benign	Het
Gbx2	C	A	1: 89,856,559 (GRCm39)	R277L	probably damaging	Het
Gm128	T	C	3: 95,148,094 (GRCm39)	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,273,792 (GRCm39)	R469W	probably damaging	Het
Ifi30	G	A	8: 71,217,407 (GRCm39)		probably benign	Het
Kbtbd4	T	C	2: 90,736,252 (GRCm39)	S88P	probably damaging	Het
Kif23	A	T	9: 61,842,750 (GRCm39)	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,540,973 (GRCm39)	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,459,071 (GRCm39)	S161P	probably benign	Het
Lrcol1	T	A	5: 110,502,444 (GRCm39)	S107T	probably benign	Het
Lrrc28	A	T	7: 67,195,223 (GRCm39)		probably null	Het
Ncoa4	T	C	14: 31,894,884 (GRCm39)	V42A	probably benign	Het
Nkd2	C	T	13: 73,969,599 (GRCm39)	S277N	probably benign	Het
Nlrp2	A	T	7: 5,340,769 (GRCm39)	L15Q	probably damaging	Het
Nynrin	T	G	14: 56,107,968 (GRCm39)	L1025R	probably damaging	Het
Or12d12	C	T	17: 37,610,629 (GRCm39)	R228H	probably benign	Het
Or5w1	G	T	2: 87,486,757 (GRCm39)	C169*	probably null	Het
Piwil4	A	T	9: 14,645,783 (GRCm39)	F152I	probably damaging	Het
Plod3	T	C	5: 137,025,002 (GRCm39)	S705P	probably benign	Het
Ppp2r2c	T	A	5: 37,026,166 (GRCm39)	M1K	probably null	Het
Rgs19	T	C	2: 181,331,246 (GRCm39)	E129G	probably damaging	Het
Rpap2	T	A	5: 107,768,061 (GRCm39)	S223T	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc30a4	T	C	2: 122,527,137 (GRCm39)	I370V	probably benign	Het
Slco1b2	A	G	6: 141,609,398 (GRCm39)	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,485,793 (GRCm39)	Y142C	probably damaging	Het
Slco3a1	T	C	7: 73,934,198 (GRCm39)	N658S	probably benign	Het
Sos1	A	T	17: 80,741,329 (GRCm39)	S485R	probably benign	Het
Srpk1	A	G	17: 28,825,291 (GRCm39)	L127P	probably damaging	Het
St3gal6	T	A	16: 58,314,033 (GRCm39)		probably benign	Het
Stk4	T	A	2: 163,916,134 (GRCm39)	M1K	probably null	Het
Tbk1	A	G	10: 121,393,134 (GRCm39)	I472T	probably benign	Het
Tiam1	G	A	16: 89,586,168 (GRCm39)	R849W	probably damaging	Het
Tle3	A	G	9: 61,317,307 (GRCm39)	T381A	probably benign	Het
Tmem82	T	G	4: 141,341,954 (GRCm39)	T337P	probably benign	Het
Tmprss15	T	C	16: 78,868,149 (GRCm39)	T220A	probably benign	Het
Ung	A	G	5: 114,275,369 (GRCm39)	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,571 (GRCm39)	M32K	probably benign	Het
Vps13d	T	G	4: 144,771,658 (GRCm39)	D956A	probably damaging	Het
Wdr64	T	A	1: 175,594,722 (GRCm39)		probably null	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
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
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

2013-12-09