Mutagenetix > Incidental Mutation

Incidental Mutation 'R4559:Tgoln1'

342982

Institutional Source

Beutler Lab

Gene Symbol

Tgoln1

Ensembl Gene

ENSMUSG00000056429

Gene Name

trans-golgi network protein

Synonyms

Ttgn1, D6Ertd384e, TGN38, TGN38A

MMRRC Submission

041785-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72608432-72617000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72615681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 272 (E272G)

Ref Sequence

ENSEMBL: ENSMUSP00000068487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070524]

AlphaFold

Q62313

Predicted Effect

probably damaging
Transcript: ENSMUST00000070524
AA Change: E272G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429
AA Change: E272G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	58	74	N/A	INTRINSIC
low complexity region	238	260	N/A	INTRINSIC
transmembrane domain	300	319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172588

Meta Mutation Damage Score

0.2809

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,513,091		noncoding transcript	Het
1700066M21Rik	T	C	1: 57,382,924	F153S	possibly damaging	Het
Acss1	A	G	2: 150,638,485	V222A	probably benign	Het
Atad2b	A	G	12: 4,943,223	I247M	probably benign	Het
Atxn10	A	G	15: 85,438,120	I398V	possibly damaging	Het
Cep192	T	A	18: 67,871,513	C2312S	probably damaging	Het
Cidea	C	T	18: 67,360,228	Q106*	probably null	Het
Cnga4	A	G	7: 105,405,685	T159A	probably damaging	Het
Cyp2j12	G	T	4: 96,112,957	S304R	probably damaging	Het
Dsg4	T	A	18: 20,470,921	V815E	probably damaging	Het
Fam122b	G	A	X: 53,260,677		probably benign	Het
Fam189a2	G	A	19: 24,030,549	S130L	probably damaging	Het
Farp1	T	C	14: 121,272,801	M737T	probably damaging	Het
Fbn1	T	A	2: 125,351,714	D1395V	possibly damaging	Het
Fbn2	C	T	18: 58,076,074	M1076I	probably benign	Het
Fitm2	T	A	2: 163,472,673		probably benign	Het
Fras1	A	G	5: 96,781,289	R3851G	probably damaging	Het
Frem2	C	T	3: 53,654,321	V922I	probably benign	Het
Gm10719	A	T	9: 3,018,945	T200S	probably benign	Het
Grin3a	T	C	4: 49,844,555	D176G	probably damaging	Het
Hdac5	T	C	11: 102,199,102		probably benign	Het
Ift140	C	A	17: 25,090,767	H1090Q	probably damaging	Het
Il20ra	A	G	10: 19,749,284	T104A	probably damaging	Het
Il22ra2	A	G	10: 19,626,712	D93G	possibly damaging	Het
Ing1	A	G	8: 11,562,090	K176R	probably benign	Het
Jph1	A	T	1: 17,004,511	C428S	probably benign	Het
Kif13b	G	T	14: 64,806,132	G1794W	probably damaging	Het
Map10	A	G	8: 125,671,814	T649A	probably benign	Het
Med12l	T	C	3: 59,007,102		probably null	Het
Nat8f1	A	G	6: 85,910,585	I131T	probably benign	Het
Oas1d	C	A	5: 120,916,895	Q177K	probably benign	Het
Olfr1247	C	A	2: 89,609,699	M134I	probably damaging	Het
Olfr635	G	A	7: 103,979,560	D123N	probably damaging	Het
P2ry2	A	G	7: 100,998,156	V314A	possibly damaging	Het
Pfkl	G	T	10: 77,988,883	R691S	probably benign	Het
Plb1	T	A	5: 32,332,831	I1005N	probably damaging	Het
Prkacb	A	G	3: 146,745,392		probably benign	Het
Ptprm	A	T	17: 66,683,408	Y1412N	possibly damaging	Het
Rab22a	A	G	2: 173,661,433	D13G	probably damaging	Het
Rab29	G	A	1: 131,872,567	W201*	probably null	Het
Rasa3	T	C	8: 13,598,259	E135G	probably damaging	Het
Rassf10	A	G	7: 112,955,131	E313G	probably benign	Het
Sf1	GGCAGCAGCAGCAGCAGCAGC	GGCAGCAGCAGCAGCAGC	19: 6,374,815		probably benign	Het
Sipa1l3	A	T	7: 29,332,253	L468Q	probably damaging	Het
Slc17a1	A	T	13: 23,878,712	K254*	probably null	Het
Slc6a12	G	A	6: 121,363,861		probably null	Het
Slfn8	A	G	11: 83,004,744	L412P	probably damaging	Het
St5	A	G	7: 109,525,578	F665L	probably damaging	Het
Taf4b	T	C	18: 14,813,526	S469P	probably damaging	Het
Tlr12	C	A	4: 128,615,770	G896W	probably damaging	Het
Tnfrsf1a	A	G	6: 125,360,766	I229V	probably benign	Het
Ttn	G	A	2: 76,919,546	H3720Y	probably benign	Het

Other mutations in Tgoln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Tgoln1	APN	6	72616090	missense	probably benign	0.00
IGL00795:Tgoln1	APN	6	72616252	missense	probably benign	0.01
IGL03002:Tgoln1	APN	6	72616072	missense	possibly damaging	0.83
IGL03136:Tgoln1	APN	6	72614113	missense	probably damaging	1.00
FR4340:Tgoln1	UTSW	6	72616351	small insertion	probably benign
R0684:Tgoln1	UTSW	6	72615991	missense	probably benign	0.00
R1656:Tgoln1	UTSW	6	72614085	missense	probably damaging	0.99
R1920:Tgoln1	UTSW	6	72616101	missense	probably benign	0.01
R2057:Tgoln1	UTSW	6	72615670	missense	probably benign	0.35
R4097:Tgoln1	UTSW	6	72615801	missense	probably damaging	0.98
R4995:Tgoln1	UTSW	6	72616140	missense	possibly damaging	0.92
R5566:Tgoln1	UTSW	6	72616035	missense	possibly damaging	0.92
R6224:Tgoln1	UTSW	6	72616001	missense	possibly damaging	0.81
R6814:Tgoln1	UTSW	6	72615555	missense	possibly damaging	0.90
R6872:Tgoln1	UTSW	6	72615555	missense	possibly damaging	0.90
R7178:Tgoln1	UTSW	6	72616045	missense	probably benign	0.01
R7339:Tgoln1	UTSW	6	72616278	missense	probably benign	0.03
R7342:Tgoln1	UTSW	6	72616278	missense	probably benign	0.03
R7347:Tgoln1	UTSW	6	72616278	missense	probably benign	0.03
R7348:Tgoln1	UTSW	6	72616278	missense	probably benign	0.03
R7366:Tgoln1	UTSW	6	72616278	missense	probably benign	0.03
R7368:Tgoln1	UTSW	6	72616278	missense	probably benign	0.03
R7491:Tgoln1	UTSW	6	72616420	missense	unknown
R8277:Tgoln1	UTSW	6	72616855	start gained	probably benign
R8979:Tgoln1	UTSW	6	72616279	missense	probably benign	0.00
R9566:Tgoln1	UTSW	6	72615928	missense	probably benign	0.00
RF003:Tgoln1	UTSW	6	72616352	nonsense	probably null
RF023:Tgoln1	UTSW	6	72616080	small insertion	probably benign
RF028:Tgoln1	UTSW	6	72616036	small insertion	probably benign
RF030:Tgoln1	UTSW	6	72616036	small insertion	probably benign
RF030:Tgoln1	UTSW	6	72616063	small insertion	probably benign
RF032:Tgoln1	UTSW	6	72616063	small insertion	probably benign
RF032:Tgoln1	UTSW	6	72616074	small insertion	probably benign
RF037:Tgoln1	UTSW	6	72616036	small insertion	probably benign
RF040:Tgoln1	UTSW	6	72616074	small insertion	probably benign
RF042:Tgoln1	UTSW	6	72616074	small insertion	probably benign
RF043:Tgoln1	UTSW	6	72616036	small insertion	probably benign
RF043:Tgoln1	UTSW	6	72616063	small insertion	probably benign
RF057:Tgoln1	UTSW	6	72616069	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCATGAACAAAGAACTTAGGGTC -3'
(R):5'- ACTGAATCTGGGGAAACACTGG -3'

Sequencing Primer
(F):5'- GAACTTAGGGTCCTGGAAATCCC -3'
(R):5'- GCAGGGGACTCTGACTTCTC -3'

Posted On

2015-09-24