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

TGN38A, Ttgn1, D6Ertd384e, TGN38

MMRRC Submission

045452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R7368 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72585415-72593983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 72593261 bp (GRCm39)

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: 84,659,639 (GRCm39)	F153I	possibly damaging	Het
Adcy1	G	A	11: 7,094,765 (GRCm39)	V564I	probably damaging	Het
Apol9b	T	C	15: 77,620,134 (GRCm39)	I310T	possibly damaging	Het
Arhgef28	C	A	13: 98,133,370 (GRCm39)	V366F	probably benign	Het
B020004C17Rik	C	T	14: 57,254,773 (GRCm39)	T199I	possibly damaging	Het
Carmil2	C	T	8: 106,417,467 (GRCm39)	T575I	possibly damaging	Het
Catsper1	A	T	19: 5,386,691 (GRCm39)	Q308L	unknown	Het
Cpa2	T	A	6: 30,551,989 (GRCm39)	S239T	probably damaging	Het
Cyrib	A	T	15: 63,810,507 (GRCm39)		probably null	Het
Ddit3	G	A	10: 127,131,776 (GRCm39)	G108D	probably damaging	Het
Dnah3	T	C	7: 119,628,239 (GRCm39)	I1473V	probably benign	Het
Dscam	A	G	16: 96,445,131 (GRCm39)	V1520A	probably benign	Het
Edc4	TAGTAGCAGCAGCAGTAGCAGCAGCAG	TAGTAGCAGCAGCAG	8: 106,615,037 (GRCm39)		probably benign	Het
Ednrb	T	A	14: 104,057,453 (GRCm39)	I370F	probably benign	Het
Ehd3	A	G	17: 74,134,457 (GRCm39)	E272G	possibly damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fkbp11	T	C	15: 98,622,307 (GRCm39)	K189E	unknown	Het
Frem1	T	A	4: 82,884,381 (GRCm39)	E1190D	probably benign	Het
Gabrg2	A	C	11: 41,867,390 (GRCm39)	Y76*	probably null	Het
Gm11437	T	A	11: 84,058,298 (GRCm39)		probably benign	Het
Gm8947	C	A	1: 151,068,847 (GRCm39)	Q227K	probably benign	Het
Gm9195	A	G	14: 72,717,496 (GRCm39)	F279S	probably damaging	Het
Gpbp1l1	T	C	4: 116,430,655 (GRCm39)	I42T	probably benign	Het
Hdac5	A	T	11: 102,088,207 (GRCm39)	V939E	probably null	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Kitl	A	T	10: 99,851,943 (GRCm39)	I21F	probably benign	Het
Krt1	T	C	15: 101,755,307 (GRCm39)	D484G	probably damaging	Het
Larp1	C	A	11: 57,938,904 (GRCm39)	P527T	probably damaging	Het
Lrp5	A	G	19: 3,670,085 (GRCm39)	V673A	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mmp27	G	A	9: 7,577,318 (GRCm39)	V228M	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	G	T	11: 60,381,741 (GRCm39)		probably null	Het
Myt1	A	G	2: 181,424,384 (GRCm39)	K26E	possibly damaging	Het
Nek1	T	A	8: 61,542,741 (GRCm39)	I777N	probably benign	Het
Nlrc5	C	T	8: 95,203,021 (GRCm39)	R374*	probably null	Het
Nol8	T	C	13: 49,814,695 (GRCm39)	S268P	probably benign	Het
Nynrin	T	A	14: 56,107,968 (GRCm39)	L1025Q	probably damaging	Het
Or8h9	A	G	2: 86,789,602 (GRCm39)	S67P	probably damaging	Het
Osbpl3	A	T	6: 50,325,078 (GRCm39)	L140H	probably damaging	Het
Pcnt	T	C	10: 76,235,835 (GRCm39)	N1382S	probably benign	Het
Pef1	T	A	4: 130,021,178 (GRCm39)	L244*	probably null	Het
Phf11a	T	C	14: 59,518,174 (GRCm39)	E191G	probably benign	Het
Polr3a	A	T	14: 24,517,144 (GRCm39)	D702E	probably damaging	Het
Ptch1	C	T	13: 63,659,798 (GRCm39)	G1285D	probably benign	Het
Ptpn3	T	C	4: 57,221,993 (GRCm39)	D566G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Scgb1b12	T	C	7: 32,033,992 (GRCm39)	I84T	probably damaging	Het
Sh2b1	A	T	7: 126,067,685 (GRCm39)	D618E	possibly damaging	Het
Slc35f5	T	A	1: 125,512,256 (GRCm39)	V352E	probably damaging	Het
Sppl2c	A	G	11: 104,078,430 (GRCm39)	E410G	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stra6	G	A	9: 58,058,543 (GRCm39)	R468Q	probably benign	Het
Taf3	T	C	2: 9,921,188 (GRCm39)	H924R	unknown	Het
Tbx18	C	A	9: 87,612,750 (GRCm39)	V50L	probably benign	Het
Unc45b	C	T	11: 82,833,321 (GRCm39)	T845I	probably benign	Het
Usp15	T	C	10: 123,032,798 (GRCm39)	D8G	possibly damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Vps13c	C	A	9: 67,821,355 (GRCm39)	D1288E	probably benign	Het
Zfp458	T	A	13: 67,405,300 (GRCm39)	M380L	probably benign	Het
Zfp638	A	G	6: 83,906,437 (GRCm39)	N201D	possibly damaging	Het

Other mutations in Tgoln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Tgoln1	APN	6	72,593,073 (GRCm39)	missense	probably benign	0.00
IGL00795:Tgoln1	APN	6	72,593,235 (GRCm39)	missense	probably benign	0.01
IGL03002:Tgoln1	APN	6	72,593,055 (GRCm39)	missense	possibly damaging	0.83
IGL03136:Tgoln1	APN	6	72,591,096 (GRCm39)	missense	probably damaging	1.00
FR4340:Tgoln1	UTSW	6	72,593,334 (GRCm39)	small insertion	probably benign
R0684:Tgoln1	UTSW	6	72,592,974 (GRCm39)	missense	probably benign	0.00
R1656:Tgoln1	UTSW	6	72,591,068 (GRCm39)	missense	probably damaging	0.99
R1920:Tgoln1	UTSW	6	72,593,084 (GRCm39)	missense	probably benign	0.01
R2057:Tgoln1	UTSW	6	72,592,653 (GRCm39)	missense	probably benign	0.35
R4097:Tgoln1	UTSW	6	72,592,784 (GRCm39)	missense	probably damaging	0.98
R4559:Tgoln1	UTSW	6	72,592,664 (GRCm39)	missense	probably damaging	0.98
R4995:Tgoln1	UTSW	6	72,593,123 (GRCm39)	missense	possibly damaging	0.92
R5566:Tgoln1	UTSW	6	72,593,018 (GRCm39)	missense	possibly damaging	0.92
R6224:Tgoln1	UTSW	6	72,592,984 (GRCm39)	missense	possibly damaging	0.81
R6814:Tgoln1	UTSW	6	72,592,538 (GRCm39)	missense	possibly damaging	0.90
R6872:Tgoln1	UTSW	6	72,592,538 (GRCm39)	missense	possibly damaging	0.90
R7178:Tgoln1	UTSW	6	72,593,028 (GRCm39)	missense	probably benign	0.01
R7339:Tgoln1	UTSW	6	72,593,261 (GRCm39)	missense	probably benign	0.03
R7342:Tgoln1	UTSW	6	72,593,261 (GRCm39)	missense	probably benign	0.03
R7347:Tgoln1	UTSW	6	72,593,261 (GRCm39)	missense	probably benign	0.03
R7348:Tgoln1	UTSW	6	72,593,261 (GRCm39)	missense	probably benign	0.03
R7366:Tgoln1	UTSW	6	72,593,261 (GRCm39)	missense	probably benign	0.03
R7491:Tgoln1	UTSW	6	72,593,403 (GRCm39)	missense	unknown
R8277:Tgoln1	UTSW	6	72,593,838 (GRCm39)	start gained	probably benign
R8979:Tgoln1	UTSW	6	72,593,262 (GRCm39)	missense	probably benign	0.00
R9566:Tgoln1	UTSW	6	72,592,911 (GRCm39)	missense	probably benign	0.00
RF003:Tgoln1	UTSW	6	72,593,335 (GRCm39)	nonsense	probably null
RF023:Tgoln1	UTSW	6	72,593,063 (GRCm39)	small insertion	probably benign
RF028:Tgoln1	UTSW	6	72,593,019 (GRCm39)	small insertion	probably benign
RF030:Tgoln1	UTSW	6	72,593,046 (GRCm39)	small insertion	probably benign
RF030:Tgoln1	UTSW	6	72,593,019 (GRCm39)	small insertion	probably benign
RF032:Tgoln1	UTSW	6	72,593,057 (GRCm39)	small insertion	probably benign
RF032:Tgoln1	UTSW	6	72,593,046 (GRCm39)	small insertion	probably benign
RF037:Tgoln1	UTSW	6	72,593,019 (GRCm39)	small insertion	probably benign
RF040:Tgoln1	UTSW	6	72,593,057 (GRCm39)	small insertion	probably benign
RF042:Tgoln1	UTSW	6	72,593,057 (GRCm39)	small insertion	probably benign
RF043:Tgoln1	UTSW	6	72,593,046 (GRCm39)	small insertion	probably benign
RF043:Tgoln1	UTSW	6	72,593,019 (GRCm39)	small insertion	probably benign
RF057:Tgoln1	UTSW	6	72,593,052 (GRCm39)	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