Mutagenetix > Incidental Mutation

Incidental Mutation 'R7368:Tgoln1'

571922

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

Is this an essential gene?

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

Stock #

R7368 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72608432-72617000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 72616278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 73 (T73R)

Ref Sequence

ENSEMBL: ENSMUSP00000068487 (fasta)

Gene Model

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

AlphaFold

Q62313

Predicted Effect

probably benign
Transcript: ENSMUST00000070524
AA Change: T73R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429
AA Change: T73R

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,612,865	F153I	possibly damaging	Het
Adcy1	G	A	11: 7,144,765	V564I	probably damaging	Het
Apol9b	T	C	15: 77,735,934	I310T	possibly damaging	Het
Arhgef28	C	A	13: 97,996,862	V366F	probably benign	Het
B020004C17Rik	C	T	14: 57,017,316	T199I	possibly damaging	Het
Carmil2	C	T	8: 105,690,835	T575I	possibly damaging	Het
Catsper1	A	T	19: 5,336,663	Q308L	unknown	Het
Cpa2	T	A	6: 30,551,990	S239T	probably damaging	Het
Ddit3	G	A	10: 127,295,907	G108D	probably damaging	Het
Dnah3	T	C	7: 120,029,016	I1473V	probably benign	Het
Dscam	A	G	16: 96,643,931	V1520A	probably benign	Het
Edc4	TAGTAGCAGCAGCAGTAGCAGCAGCAG	TAGTAGCAGCAGCAG	8: 105,888,405		probably benign	Het
Ednrb	T	A	14: 103,820,017	I370F	probably benign	Het
Ehd3	A	G	17: 73,827,462	E272G	possibly damaging	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fam49b	A	T	15: 63,938,658		probably null	Het
Fkbp11	T	C	15: 98,724,426	K189E	unknown	Het
Frem1	T	A	4: 82,966,144	E1190D	probably benign	Het
Gabrg2	A	C	11: 41,976,563	Y76*	probably null	Het
Gm11437	T	A	11: 84,167,472		probably benign	Het
Gm8947	C	A	1: 151,193,096	Q227K	probably benign	Het
Gm9195	A	G	14: 72,480,056	F279S	probably damaging	Het
Gpbp1l1	T	C	4: 116,573,458	I42T	probably benign	Het
Hdac5	A	T	11: 102,197,381	V939E	probably null	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Kitl	A	T	10: 100,016,081	I21F	probably benign	Het
Krt1	T	C	15: 101,846,872	D484G	probably damaging	Het
Larp1	C	A	11: 58,048,078	P527T	probably damaging	Het
Lrp5	A	G	19: 3,620,085	V673A	possibly damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Mmp27	G	A	9: 7,577,317	V228M	probably damaging	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo15	G	T	11: 60,490,915		probably null	Het
Myt1	A	G	2: 181,782,591	K26E	possibly damaging	Het
Nek1	T	A	8: 61,089,707	I777N	probably benign	Het
Nlrc5	C	T	8: 94,476,393	R374*	probably null	Het
Nol8	T	C	13: 49,661,219	S268P	probably benign	Het
Nynrin	T	A	14: 55,870,511	L1025Q	probably damaging	Het
Olfr1099	A	G	2: 86,959,258	S67P	probably damaging	Het
Osbpl3	A	T	6: 50,348,098	L140H	probably damaging	Het
Pcnt	T	C	10: 76,400,001	N1382S	probably benign	Het
Pef1	T	A	4: 130,127,385	L244*	probably null	Het
Phf11a	T	C	14: 59,280,725	E191G	probably benign	Het
Polr3a	A	T	14: 24,467,076	D702E	probably damaging	Het
Ptch1	C	T	13: 63,511,984	G1285D	probably benign	Het
Ptpn3	T	C	4: 57,221,993	D566G	probably damaging	Het
Pwp2	C	T	10: 78,182,480	G126R	probably damaging	Het
Scgb1b12	T	C	7: 32,334,567	I84T	probably damaging	Het
Sh2b1	A	T	7: 126,468,513	D618E	possibly damaging	Het
Slc35f5	T	A	1: 125,584,519	V352E	probably damaging	Het
Sppl2c	A	G	11: 104,187,604	E410G	probably damaging	Het
St6galnac2	T	C	11: 116,679,979	Y261C	probably damaging	Het
Stra6	G	A	9: 58,151,260	R468Q	probably benign	Het
Taf3	T	C	2: 9,916,377	H924R	unknown	Het
Tbx18	C	A	9: 87,730,697	V50L	probably benign	Het
Unc45b	C	T	11: 82,942,495	T845I	probably benign	Het
Usp15	T	C	10: 123,196,893	D8G	possibly damaging	Het
Vmn2r91	A	G	17: 18,136,278	I736V	possibly damaging	Het
Vps13c	C	A	9: 67,914,073	D1288E	probably benign	Het
Zfp458	T	A	13: 67,257,236	M380L	probably benign	Het
Zfp638	A	G	6: 83,929,455	N201D	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
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
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'- CTTGCCAGAATCACCTCCTG -3'
(R):5'- AGCTCTGCCGTCCGTTTATAAG -3'

Sequencing Primer
(F):5'- TGGGCTTGCCAGAATTACC -3'
(R):5'- CTGCCGTCCGTTTATAAGAGAGAC -3'

Posted On

2019-09-13