Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Tgoln1'

536204

Institutional Source

Beutler Lab

Gene Symbol

Tgoln1

Ensembl Gene

ENSMUSG00000056429

Gene Name

trans-golgi network protein

Synonyms

Ttgn1, D6Ertd384e, TGN38, TGN38A

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72608432-72617000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72615555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 314 (V314A)

Ref Sequence

ENSEMBL: ENSMUSP00000068487 (fasta)

Gene Model

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

AlphaFold

Q62313

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070524
AA Change: V314A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429
AA Change: V314A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,623,180	V336I	probably benign	Het
Abcg3	T	C	5: 104,935,994	T637A	probably benign	Het
Ap3d1	G	A	10: 80,714,322	R692*	probably null	Het
Aqp2	C	T	15: 99,584,004	H260Y	probably benign	Het
Btbd2	C	A	10: 80,644,332	R383L	probably damaging	Het
Ccdc24	T	C	4: 117,869,926	T196A	probably benign	Het
Cdc20b	G	A	13: 113,083,975	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,752,287	R570*	probably null	Het
Col12a1	A	T	9: 79,677,234	N1357K	probably damaging	Het
Cpa5	A	T	6: 30,614,054	Q65L	probably benign	Het
Ddo	A	C	10: 40,637,418	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,762,679	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,223,040	N186S	probably damaging	Het
Dock4	T	C	12: 40,812,326		probably null	Het
Ear6	A	G	14: 51,854,428	Y144C	probably damaging	Het
Eng	T	A	2: 32,673,275	I281N	probably damaging	Het
Fgf2	A	G	3: 37,404,711	K85E	probably damaging	Het
Fubp1	A	T	3: 152,226,146	Q37L	probably benign	Het
Gabra2	G	T	5: 71,094,539	P22T	probably damaging	Het
Gm10401	T	C	5: 115,098,186		probably benign	Het
Gm436	A	T	4: 144,670,646	L172*	probably null	Het
Gm6657	T	A	12: 78,197,367	D31E	probably damaging	Het
Gsdmc	T	C	15: 63,778,707	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,241,284	I98T	probably damaging	Het
Lmod1	G	T	1: 135,365,141	R578L	probably damaging	Het
Mindy2	A	G	9: 70,616,762		probably null	Het
Neb	G	T	2: 52,293,645	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,611,889	N180T	probably benign	Het
Nlrp2	C	T	7: 5,308,710	R922H	probably benign	Het
Nol4l	T	C	2: 153,483,817	E116G	probably damaging	Het
Olfr201	A	G	16: 59,269,598	L23P	probably benign	Het
Olfr366	A	T	2: 37,219,977	M163L	possibly damaging	Het
Pcdhb20	A	C	18: 37,506,165	E581D	probably benign	Het
Pidd1	G	T	7: 141,439,418	T750K	probably benign	Het
Rab44	A	G	17: 29,139,810	E324G	probably benign	Het
Ramp3	T	C	11: 6,674,768	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,775,369	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,344,260	K350Q	probably benign	Het
St13	C	T	15: 81,366,346		probably null	Het
Stard9	A	T	2: 120,714,068	K4497*	probably null	Het
Tbx19	A	T	1: 165,147,633		probably null	Het
Them4	A	T	3: 94,324,371	I172F	probably damaging	Het
Tmc7	T	A	7: 118,547,623	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,863,305	L421P	probably damaging	Het
Trim69	A	G	2: 122,167,910	E121G	probably damaging	Het
Vmn2r11	T	G	5: 109,047,110	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,788,988	L141F	probably benign	Het
Zbtb7a	A	G	10: 81,148,071	N449S	possibly damaging	Het
Zfhx3	C	T	8: 108,800,641	R1057W	probably damaging	Het
Zfp180	G	T	7: 24,105,881	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326	A1431T	probably benign	Het
Zfp592	T	C	7: 81,023,828	V180A	probably benign	Het
Zfp605	C	T	5: 110,127,445	P143L	probably benign	Het
Zfp646	T	C	7: 127,883,333	S1561P	probably benign	Het
Zfp706	T	C	15: 37,001,946	T46A	possibly damaging	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
R4559:Tgoln1	UTSW	6	72615681	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
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'- TCCAACTTGGCACTTTACAGC -3'
(R):5'- AGGCTCACCACTTGAAGAAG -3'

Sequencing Primer
(F):5'- CTTGGCACTTTACAGCAGAAC -3'
(R):5'- CTCACCACTTGAAGAAGAGAATG -3'

Posted On

2018-10-18