Mutagenetix > Incidental Mutation

Incidental Mutation 'RF032:Tgoln1'

604411

Institutional Source

Beutler Lab

Gene Symbol

Tgoln1

Ensembl Gene

ENSMUSG00000056429

Gene Name

trans-golgi network protein

Synonyms

Ttgn1, D6Ertd384e, TGN38, TGN38A

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

RF032 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

72608432-72617000 bp(-) (GRCm38)

Type of Mutation

small insertion (8 aa in frame mutation)

DNA Base Change (assembly)

T to TCACCTCCCGTGGGCTTGCCAGAAG at 72616074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068487 (fasta)

Gene Model

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

AlphaFold

Q62313

Predicted Effect

probably benign
Transcript: ENSMUST00000070524

SMART Domains

Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	TACCT	TACCTGACCT	17: 24,287,727		probably null	Het
Acap3	CTGCTG	CTGCTGCATCCTGGGATGCTG	4: 155,905,102		probably benign	Het
Arid1b	GCG	GCGTCG	17: 4,995,588		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCGTCC	7: 80,512,930		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,620,063		probably null	Het
Calhm1	C	CTGTGGCCGTGG	19: 47,141,283		probably null	Het
Cluh	CCCGAGCC	CCCGAGCCCGAGCC	11: 74,669,515		probably benign	Het
Cyb5r4	ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,413		probably benign	Het
Dmkn	GT	GTTGTGAAAGTGGTGGAAGTGGTGGAATT	7: 30,767,182		probably benign	Het
Efhd2	CGCC	CGCCGCAGCC	4: 141,874,772		probably benign	Het
Enah	TGGCGGTGG	TG	1: 181,921,929		probably null	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,120,294		probably null	Het
Ifi207	GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC	GCCTGAGCTGTGGAAGTCTC	1: 173,735,157		probably benign	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 68,226,179		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,042,258		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,640,489		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,981		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,985		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,989		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,711		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936		probably null	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,587		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Pik3c2g	G	GGAGA	6: 139,635,658		probably null	Het
Pou3f1	GGCGGCCG	GGCGGCCGCGGCCG	4: 124,657,805		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Reep1	CC	CCCGAC	6: 71,707,968		probably null	Het
Slc12a1	ACAAACC	ACAAACCTTTGGCCACCAAACC	2: 125,154,210		probably benign	Het
Smpx	CCCCCCA	C	X: 157,720,923		probably benign	Het
Spaca1	TCGC	TCGCTCACGC	4: 34,049,854		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,666		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	15: 78,967,036		probably benign	Het
Vat1l	C	T	8: 114,289,329	L320F	probably damaging	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092		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
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
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
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'- TTTCCCCAGATTCAGTTTTGGAAG -3'
(R):5'- TCCAGTAAGGCGGAATCTGG -3'

Sequencing Primer
(F):5'- CCCAGATTCAGTTTTGGAAGTAAGTG -3'
(R):5'- GAATCTGGGCCGCGGAC -3'

Posted On

2019-12-04