Mutagenetix > Incidental Mutation

Incidental Mutation 'R8085:Tango6'

629595

Institutional Source

Beutler Lab

Gene Symbol

Tango6

Ensembl Gene

ENSMUSG00000041949

Gene Name

transport and golgi organization 6

Synonyms

Tango6, Tmco7

MMRRC Submission

067518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107409700-107578071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107447366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 588 (H588R)

Ref Sequence

ENSEMBL: ENSMUSP00000043953 (fasta)

Gene Model

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

AlphaFold

Q8C3S2

Predicted Effect

probably benign
Transcript: ENSMUST00000048359
AA Change: H588R

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043953
Gene: ENSMUSG00000041949
AA Change: H588R

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.9%
20x: 96.0%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	G	T	9: 30,854,611 (GRCm39)	R160L	probably benign	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
AW146154	C	T	7: 41,130,621 (GRCm39)	G165D	possibly damaging	Het
AW146154	C	A	7: 41,130,622 (GRCm39)	G165C	probably damaging	Het
Cachd1	G	A	4: 100,845,361 (GRCm39)	G951D	probably damaging	Het
Clstn3	T	C	6: 124,435,683 (GRCm39)	N250D	probably benign	Het
Coch	G	C	12: 51,650,031 (GRCm39)	G340A	possibly damaging	Het
Col18a1	A	G	10: 76,924,741 (GRCm39)	V226A	unknown	Het
Crocc2	G	A	1: 93,130,578 (GRCm39)	R953Q	possibly damaging	Het
Dgkh	A	T	14: 78,824,558 (GRCm39)		probably null	Het
Disp2	C	T	2: 118,617,452 (GRCm39)	L149F	possibly damaging	Het
Dpt	T	C	1: 164,650,756 (GRCm39)	F186S	probably damaging	Het
Eif3l	T	G	15: 78,961,066 (GRCm39)	Y40D	probably damaging	Het
Epha3	A	C	16: 63,403,873 (GRCm39)	Y743D	probably damaging	Het
Ercc6l2	A	T	13: 63,992,367 (GRCm39)	Y272F	probably benign	Het
Exoc2	G	A	13: 31,124,686 (GRCm39)	L9F	probably damaging	Het
Fkbp9	A	G	6: 56,833,289 (GRCm39)	T259A	probably benign	Het
Gm5622	A	T	14: 51,895,201 (GRCm39)	K120M	probably damaging	Het
Hectd1	A	T	12: 51,795,679 (GRCm39)	F2250Y	probably damaging	Het
Herc2	A	G	7: 55,879,427 (GRCm39)	I4682V	probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Kctd1	T	A	18: 15,140,901 (GRCm39)	I610F	possibly damaging	Het
Kif5a	A	T	10: 127,075,178 (GRCm39)	D478E	probably benign	Het
Klf13	G	T	7: 63,541,497 (GRCm39)	A210E	probably damaging	Het
Klhl20	C	A	1: 160,921,354 (GRCm39)	G543C	probably damaging	Het
Krt78	T	C	15: 101,855,715 (GRCm39)	T699A	possibly damaging	Het
Lgr5	A	T	10: 115,311,102 (GRCm39)	D231E	probably benign	Het
Lonrf1	C	A	8: 36,715,769 (GRCm39)	G289W	probably damaging	Het
Lyst	T	C	13: 13,808,894 (GRCm39)	L188P	probably damaging	Het
Mab21l2	T	C	3: 86,455,393 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,303,875 (GRCm39)	V209A	possibly damaging	Het
Mctp1	A	C	13: 76,972,972 (GRCm39)	R658S	probably benign	Het
Mdfi	T	C	17: 48,127,042 (GRCm39)	T178A	probably damaging	Het
Msln	T	A	17: 25,971,942 (GRCm39)	K92*	probably null	Het
Msx3	T	C	7: 139,627,998 (GRCm39)	H113R	unknown	Het
Muc6	T	A	7: 141,226,729 (GRCm39)	T1433S	unknown	Het
Musk	T	A	4: 58,373,110 (GRCm39)	S693R	probably benign	Het
Myh13	A	G	11: 67,225,613 (GRCm39)	K296R	probably benign	Het
Mylip	A	T	13: 45,563,928 (GRCm39)	H427L	possibly damaging	Het
Nradd	G	T	9: 110,451,179 (GRCm39)	T63K	possibly damaging	Het
Ntaq1	T	G	15: 58,015,983 (GRCm39)		probably null	Het
Or5h17	A	G	16: 58,820,432 (GRCm39)	N128S	probably benign	Het
Or5p66	G	T	7: 107,885,620 (GRCm39)	Q238K	probably benign	Het
Osbp2	A	G	11: 3,662,521 (GRCm39)	L187P	probably damaging	Het
Oxct1	A	G	15: 4,158,350 (GRCm39)	D428G	probably damaging	Het
Oxsm	G	T	14: 16,242,439 (GRCm38)	S110*	probably null	Het
Pard6a	A	G	8: 106,429,642 (GRCm39)	Q230R	probably damaging	Het
Pkhd1	C	A	1: 20,683,639 (GRCm39)	W38L	probably damaging	Het
Plekhh2	A	G	17: 84,905,384 (GRCm39)	N1093D	probably damaging	Het
Rttn	C	T	18: 89,071,672 (GRCm39)	Q1240*	probably null	Het
Serpina1d	T	C	12: 103,730,087 (GRCm39)	E365G	probably damaging	Het
Sis	A	T	3: 72,814,462 (GRCm39)	H1589Q	probably damaging	Het
Slc40a1	A	T	1: 45,957,528 (GRCm39)	I152N	probably damaging	Het
Slc44a5	C	T	3: 153,928,414 (GRCm39)	P59S	probably damaging	Het
Smarca4	T	A	9: 21,570,108 (GRCm39)		probably null	Het
Smim33	A	T	18: 35,861,573 (GRCm39)	D19V	probably benign	Het
Spag9	A	G	11: 93,989,870 (GRCm39)	Y930C	probably benign	Het
Speg	A	G	1: 75,391,997 (GRCm39)	E1593G	probably damaging	Het
St3gal5	G	T	6: 72,074,925 (GRCm39)	A62S	unknown	Het
Stx1a	T	C	5: 135,066,431 (GRCm39)		probably null	Het
Syne1	T	A	10: 5,178,021 (GRCm39)	I4818F	possibly damaging	Het
Tapt1	T	C	5: 44,336,307 (GRCm39)	Y454C	probably damaging	Het
Tep1	A	G	14: 51,066,753 (GRCm39)	Y2282H	probably benign	Het
Tle6	A	T	10: 81,431,792 (GRCm39)	W151R	probably damaging	Het
Tmem131l	A	T	3: 83,834,438 (GRCm39)	M715K	possibly damaging	Het
Ubr1	T	A	2: 120,764,898 (GRCm39)	R519*	probably null	Het
Usp1	A	T	4: 98,816,578 (GRCm39)	N93I	probably damaging	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Vmn1r238	A	G	18: 3,123,151 (GRCm39)	Y88H	probably damaging	Het
Vmn2r62	A	G	7: 42,437,270 (GRCm39)	Y405H	probably damaging	Het
Vmn2r78	A	G	7: 86,603,998 (GRCm39)	I725M	probably benign	Het
Zfp12	C	T	5: 143,230,681 (GRCm39)	T368M	probably damaging	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
R2761:Tango6	UTSW	8	107,425,664 (GRCm39)	missense	possibly damaging	0.93
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
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'- GCCTCTGTAGCCACACATATAG -3'
(R):5'- CCTATGAGCAGCTGAGTTAATTAC -3'

Sequencing Primer
(F):5'- GCTTTATCAACACTGACGTG -3'
(R):5'- ACTCTCTGTCTTCTGTTTATTGGTC -3'

Posted On

2020-06-30