Mutagenetix > Incidental Mutation

Incidental Mutation 'R2761:Tango6'

254048

Institutional Source

Beutler Lab

Gene Symbol

Tango6

Ensembl Gene

ENSMUSG00000041949

Gene Name

transport and golgi organization 6

Synonyms

Tango6, Tmco7

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107409700-107578071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107425664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 408 (T408N)

Ref Sequence

ENSEMBL: ENSMUSP00000043953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048359] [ENSMUST00000211979]

AlphaFold

Q8C3S2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048359
AA Change: T408N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043953
Gene: ENSMUSG00000041949
AA Change: T408N

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	20	41	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
low complexity region	246	259	N/A	INTRINSIC
low complexity region	334	350	N/A	INTRINSIC
low complexity region	472	486	N/A	INTRINSIC
Pfam:RTP1_C1	824	935	1.6e-35	PFAM
low complexity region	998	1013	N/A	INTRINSIC
Pfam:RTP1_C2	1026	1059	7.5e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211979
AA Change: T408N

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212764

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,541 (GRCm39)	V910A	probably damaging	Het
1700123K08Rik	T	C	5: 138,562,436 (GRCm39)	T102A	possibly damaging	Het
Acoxl	T	C	2: 127,719,733 (GRCm39)	Y165H	probably benign	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Cdh1	T	A	8: 107,380,481 (GRCm39)	I208N	possibly damaging	Het
Col11a2	A	G	17: 34,270,000 (GRCm39)	I477V	probably damaging	Het
Cpa2	A	G	6: 30,554,193 (GRCm39)	D271G	probably damaging	Het
Dzank1	T	C	2: 144,355,369 (GRCm39)	M109V	probably benign	Het
Hdac3	A	T	18: 38,078,779 (GRCm39)	S111T	probably benign	Het
Kremen1	GGG	GGGTGG	11: 5,151,792 (GRCm39)		probably benign	Het
Krt31	T	C	11: 99,938,691 (GRCm39)	T301A	probably benign	Het
Rad21	T	A	15: 51,846,039 (GRCm39)	K10N	probably damaging	Het
Snap47	T	C	11: 59,328,885 (GRCm39)	D139G	probably benign	Het

Other mutations in Tango6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Tango6	APN	8	107,469,104 (GRCm39)	critical splice donor site	probably null
IGL00925:Tango6	APN	8	107,422,077 (GRCm39)	splice site	probably benign
IGL00965:Tango6	APN	8	107,468,642 (GRCm39)	splice site	probably benign
IGL01412:Tango6	APN	8	107,545,131 (GRCm39)	missense	probably benign	0.02
IGL02888:Tango6	APN	8	107,447,297 (GRCm39)	missense	probably damaging	1.00
IGL02892:Tango6	APN	8	107,468,642 (GRCm39)	splice site	probably benign
R0241:Tango6	UTSW	8	107,473,993 (GRCm39)	splice site	probably benign
R0494:Tango6	UTSW	8	107,462,314 (GRCm39)	splice site	probably benign
R1127:Tango6	UTSW	8	107,415,527 (GRCm39)	missense	probably benign	0.00
R1440:Tango6	UTSW	8	107,415,671 (GRCm39)	missense	probably damaging	1.00
R1547:Tango6	UTSW	8	107,508,418 (GRCm39)	missense	probably damaging	0.98
R1921:Tango6	UTSW	8	107,415,426 (GRCm39)	missense	probably benign	0.06
R2255:Tango6	UTSW	8	107,415,926 (GRCm39)	critical splice donor site	probably null
R4211:Tango6	UTSW	8	107,415,856 (GRCm39)	missense	probably benign	0.02
R4463:Tango6	UTSW	8	107,415,706 (GRCm39)	missense	probably benign	0.29
R4696:Tango6	UTSW	8	107,426,863 (GRCm39)	missense	possibly damaging	0.73
R4867:Tango6	UTSW	8	107,545,158 (GRCm39)	missense	probably damaging	1.00
R4946:Tango6	UTSW	8	107,444,722 (GRCm39)	nonsense	probably null
R5459:Tango6	UTSW	8	107,576,921 (GRCm39)	missense	probably damaging	1.00
R5522:Tango6	UTSW	8	107,422,230 (GRCm39)	critical splice donor site	probably null
R5795:Tango6	UTSW	8	107,444,709 (GRCm39)	missense	probably damaging	1.00
R5878:Tango6	UTSW	8	107,415,800 (GRCm39)	missense	possibly damaging	0.77
R6318:Tango6	UTSW	8	107,545,129 (GRCm39)	missense	probably benign
R6335:Tango6	UTSW	8	107,419,308 (GRCm39)	missense	possibly damaging	0.94
R6633:Tango6	UTSW	8	107,444,637 (GRCm39)	missense	probably benign	0.00
R6664:Tango6	UTSW	8	107,468,746 (GRCm39)	missense	probably damaging	1.00
R6838:Tango6	UTSW	8	107,468,706 (GRCm39)	missense	probably benign	0.00
R6866:Tango6	UTSW	8	107,469,104 (GRCm39)	critical splice donor site	probably null
R7046:Tango6	UTSW	8	107,533,748 (GRCm39)	missense	possibly damaging	0.86
R7130:Tango6	UTSW	8	107,533,733 (GRCm39)	missense	probably damaging	1.00
R7199:Tango6	UTSW	8	107,415,791 (GRCm39)	missense	probably benign	0.01
R7418:Tango6	UTSW	8	107,415,466 (GRCm39)	missense	probably benign	0.26
R7480:Tango6	UTSW	8	107,423,359 (GRCm39)	missense	possibly damaging	0.63
R7704:Tango6	UTSW	8	107,425,621 (GRCm39)	missense	probably benign	0.03
R7809:Tango6	UTSW	8	107,415,926 (GRCm39)	critical splice donor site	probably null
R7826:Tango6	UTSW	8	107,419,245 (GRCm39)	missense	probably benign	0.02
R8085:Tango6	UTSW	8	107,447,366 (GRCm39)	missense	probably benign	0.32
R8098:Tango6	UTSW	8	107,468,990 (GRCm39)	missense	possibly damaging	0.81
R8162:Tango6	UTSW	8	107,409,882 (GRCm39)	missense	possibly damaging	0.93
R8892:Tango6	UTSW	8	107,468,845 (GRCm39)	missense	probably benign	0.00
R8970:Tango6	UTSW	8	107,415,871 (GRCm39)	missense	probably damaging	0.98
R9336:Tango6	UTSW	8	107,415,701 (GRCm39)	missense	probably benign	0.03
R9760:Tango6	UTSW	8	107,576,911 (GRCm39)	missense	probably damaging	1.00
Z1177:Tango6	UTSW	8	107,423,248 (GRCm39)	missense	probably damaging	1.00
Z1177:Tango6	UTSW	8	107,415,424 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCATAACACACATGCATGGG -3'
(R):5'- AGTGCTCTCCTCTTGGAACTTG -3'

Sequencing Primer
(F):5'- CTGGCTTCAAACTTGCAGAG -3'
(R):5'- AACTTGGGGGAAGTAGTTTTCCAAG -3'

Posted On

2014-12-04