Mutagenetix > Incidental Mutations

Incidental Mutation 'R5795:Tango6'

447177

Institutional Source

Beutler Lab

Gene Symbol

Tango6

Ensembl Gene

ENSMUSG00000041949

Gene Name

transport and golgi organization 6

Synonyms

MMRRC Submission

043386-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106683068-106851439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106718077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 538 (L538H)

Ref Sequence

ENSEMBL: ENSMUSP00000043953 (fasta)

Gene Model

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

AlphaFold

Q8C3S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048359
AA Change: L538H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043953
Gene: ENSMUSG00000041949
AA Change: L538H

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

noncoding transcript
Transcript: ENSMUST00000212764

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	A	G	9: 104,309,489	V261A	probably benign	Het
Adipor1	C	A	1: 134,424,903	N137K	probably damaging	Het
Ahnak	A	T	19: 9,012,382	K3677*	probably null	Het
Ankrd24	C	A	10: 81,645,103		probably benign	Het
Appl1	G	T	14: 26,942,816	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,121,968	F249L	possibly damaging	Het
Brat1	G	T	5: 140,713,072	A275S	probably benign	Het
C5ar1	T	C	7: 16,248,394	K234E	possibly damaging	Het
Ccs	A	G	19: 4,833,339		probably null	Het
Chmp5	T	G	4: 40,950,562		probably null	Het
Chrna3	T	A	9: 55,015,268	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 141,041,807		probably null	Het
Csf3	G	T	11: 98,702,027	C72F	probably damaging	Het
Dbndd1	A	G	8: 123,509,880	I83T	probably damaging	Het
Ercc6	A	G	14: 32,526,352	K287E	probably damaging	Het
F5	C	T	1: 164,152,009	T16I	probably benign	Het
Gif	A	G	19: 11,760,376	T384A	probably damaging	Het
Gm14085	T	C	2: 122,517,994	M274T	possibly damaging	Het
Hephl1	C	T	9: 15,069,760	G792E	probably damaging	Het
Hmmr	T	A	11: 40,721,906	D158V	probably damaging	Het
Hsd11b1	A	G	1: 193,240,632	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,577,144	S167P	probably benign	Het
Irf7	G	A	7: 141,265,116	P118L	probably damaging	Het
Lama1	A	G	17: 67,796,727	N1981S	probably benign	Het
Lrp4	A	G	2: 91,474,471	D224G	probably benign	Het
Mink1	T	C	11: 70,607,790	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,514,157	V412M	probably damaging	Het
Muc5b	G	A	7: 141,871,741	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,996,622	E34K	probably damaging	Het
Oaf	T	A	9: 43,223,944	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,114,761	G278D	probably damaging	Het
Olfr1448	A	G	19: 12,919,824	F162L	possibly damaging	Het
Olfr91	A	G	17: 37,093,769	L35P	probably damaging	Het
Paf1	T	G	7: 28,396,618	M250R	probably damaging	Het
Pcdh8	T	C	14: 79,770,980	T48A	possibly damaging	Het
Pdzph1	A	G	17: 58,885,867	V1096A	possibly damaging	Het
Polr3b	A	T	10: 84,628,252	E25D	probably benign	Het
Polr3b	T	C	10: 84,677,011	S586P	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc31a2	T	C	4: 62,297,052	V112A	probably damaging	Het
Spire1	A	T	18: 67,495,195	S412T	probably benign	Het
Tanc1	A	G	2: 59,807,582	T876A	possibly damaging	Het
Tas2r125	G	A	6: 132,909,658	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,215,062	M125K	possibly damaging	Het
Traf5	T	C	1: 191,999,846	S345G	probably benign	Het
Ush2a	A	T	1: 188,443,397	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,030,110	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,030,282	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,228,736	C60S	probably benign	Het
Zfp316	A	T	5: 143,262,839	D217E	unknown	Het
Zfp456	A	T	13: 67,366,920	D222E	probably benign	Het

Other mutations in Tango6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Tango6	APN	8	106742472	critical splice donor site	probably null
IGL00925:Tango6	APN	8	106695445	splice site	probably benign
IGL00965:Tango6	APN	8	106742010	splice site	probably benign
IGL01412:Tango6	APN	8	106818499	missense	probably benign	0.02
IGL02888:Tango6	APN	8	106720665	missense	probably damaging	1.00
IGL02892:Tango6	APN	8	106742010	splice site	probably benign
R0241:Tango6	UTSW	8	106747361	splice site	probably benign
R0494:Tango6	UTSW	8	106735682	splice site	probably benign
R1127:Tango6	UTSW	8	106688895	missense	probably benign	0.00
R1440:Tango6	UTSW	8	106689039	missense	probably damaging	1.00
R1547:Tango6	UTSW	8	106781786	missense	probably damaging	0.98
R1921:Tango6	UTSW	8	106688794	missense	probably benign	0.06
R2255:Tango6	UTSW	8	106689294	critical splice donor site	probably null
R2761:Tango6	UTSW	8	106699032	missense	possibly damaging	0.93
R4211:Tango6	UTSW	8	106689224	missense	probably benign	0.02
R4463:Tango6	UTSW	8	106689074	missense	probably benign	0.29
R4696:Tango6	UTSW	8	106700231	missense	possibly damaging	0.73
R4867:Tango6	UTSW	8	106818526	missense	probably damaging	1.00
R4946:Tango6	UTSW	8	106718090	nonsense	probably null
R5459:Tango6	UTSW	8	106850289	missense	probably damaging	1.00
R5522:Tango6	UTSW	8	106695598	critical splice donor site	probably null
R5878:Tango6	UTSW	8	106689168	missense	possibly damaging	0.77
R6318:Tango6	UTSW	8	106818497	missense	probably benign
R6335:Tango6	UTSW	8	106692676	missense	possibly damaging	0.94
R6633:Tango6	UTSW	8	106718005	missense	probably benign	0.00
R6664:Tango6	UTSW	8	106742114	missense	probably damaging	1.00
R6838:Tango6	UTSW	8	106742074	missense	probably benign	0.00
R6866:Tango6	UTSW	8	106742472	critical splice donor site	probably null
R7046:Tango6	UTSW	8	106807116	missense	possibly damaging	0.86
R7130:Tango6	UTSW	8	106807101	missense	probably damaging	1.00
R7199:Tango6	UTSW	8	106689159	missense	probably benign	0.01
R7418:Tango6	UTSW	8	106688834	missense	probably benign	0.26
R7480:Tango6	UTSW	8	106696727	missense	possibly damaging	0.63
R7704:Tango6	UTSW	8	106698989	missense	probably benign	0.03
R7809:Tango6	UTSW	8	106689294	critical splice donor site	probably null
R7826:Tango6	UTSW	8	106692613	missense	probably benign	0.02
R8085:Tango6	UTSW	8	106720734	missense	probably benign	0.32
R8098:Tango6	UTSW	8	106742358	missense	possibly damaging	0.81
R8162:Tango6	UTSW	8	106683250	missense	possibly damaging	0.93
R8892:Tango6	UTSW	8	106742213	missense	probably benign	0.00
R8970:Tango6	UTSW	8	106689239	missense	probably damaging	0.98
R9336:Tango6	UTSW	8	106689069	missense	probably benign	0.03
Z1177:Tango6	UTSW	8	106688792	missense	probably benign
Z1177:Tango6	UTSW	8	106696616	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGGAACCTGACGGTCATC -3'
(R):5'- TAAATAGCAAGCGCCTTGGC -3'

Sequencing Primer
(F):5'- CGGTCATCGTGTCTTCCC -3'
(R):5'- CCTTGGCTGCCTGTTTCTGG -3'

Posted On

2016-12-15