Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Ttll6'

49334

Institutional Source

Beutler Lab

Gene Symbol

Ttll6

Ensembl Gene

ENSMUSG00000038756

Gene Name

tubulin tyrosine ligase-like family, member 6

Synonyms

D11Moh43e, t8130b59, 4932418K24Rik, D11Moh44e

MMRRC Submission

038725-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0533 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

96133786-96165451 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96154756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 600 (A600T)

Ref Sequence

ENSEMBL: ENSMUSP00000127778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107680] [ENSMUST00000167258]

AlphaFold

A4Q9E8

Predicted Effect

probably benign
Transcript: ENSMUST00000107680
AA Change: A496T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: A496T

Domain	Start	End	E-Value	Type
Pfam:TTL	1	293	4.4e-90	PFAM
coiled coil region	376	402	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167258
AA Change: A600T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: A600T

Domain	Start	End	E-Value	Type
low complexity region	7	29	N/A	INTRINSIC
low complexity region	52	59	N/A	INTRINSIC
Pfam:TTL	103	397	2.9e-90	PFAM
coiled coil region	480	506	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Ttll6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Ttll6	APN	11	96135540	nonsense	probably null
IGL02331:Ttll6	APN	11	96135747	missense	probably damaging	1.00
IGL02490:Ttll6	APN	11	96156720	missense	possibly damaging	0.55
IGL02551:Ttll6	APN	11	96154700	missense	probably benign	0.00
IGL02618:Ttll6	APN	11	96147562	missense	probably benign	0.04
IGL02712:Ttll6	APN	11	96139775	critical splice donor site	probably benign
IGL02720:Ttll6	APN	11	96152073	critical splice donor site	probably null
IGL02839:Ttll6	APN	11	96158820	missense	probably damaging	1.00
IGL02974:Ttll6	APN	11	96156702	missense	probably benign	0.06
IGL03038:Ttll6	APN	11	96151960	missense	probably damaging	1.00
IGL03216:Ttll6	APN	11	96152014	missense	probably benign	0.00
IGL03271:Ttll6	APN	11	96156687	missense	probably benign	0.00
LCD18:Ttll6	UTSW	11	96155258	intron	probably benign
R0295:Ttll6	UTSW	11	96154714	missense	probably benign	0.09
R0310:Ttll6	UTSW	11	96147556	missense	probably benign	0.41
R0466:Ttll6	UTSW	11	96145591	missense	probably damaging	1.00
R1195:Ttll6	UTSW	11	96135729	missense	probably damaging	1.00
R1195:Ttll6	UTSW	11	96135729	missense	probably damaging	1.00
R1195:Ttll6	UTSW	11	96135729	missense	probably damaging	1.00
R1453:Ttll6	UTSW	11	96158888	missense	possibly damaging	0.82
R1555:Ttll6	UTSW	11	96145582	missense	probably damaging	1.00
R1860:Ttll6	UTSW	11	96138874	nonsense	probably null
R1861:Ttll6	UTSW	11	96138874	nonsense	probably null
R1998:Ttll6	UTSW	11	96139775	critical splice donor site	probably null
R2034:Ttll6	UTSW	11	96135526	missense	probably damaging	0.99
R2126:Ttll6	UTSW	11	96147532	missense	probably damaging	1.00
R3722:Ttll6	UTSW	11	96133921	missense	probably benign	0.00
R4684:Ttll6	UTSW	11	96153177	missense	probably benign
R4747:Ttll6	UTSW	11	96145546	missense	possibly damaging	0.46
R4771:Ttll6	UTSW	11	96133829	missense	possibly damaging	0.53
R4955:Ttll6	UTSW	11	96138789	missense	possibly damaging	0.87
R5042:Ttll6	UTSW	11	96154604	missense	possibly damaging	0.95
R5910:Ttll6	UTSW	11	96135589	missense	possibly damaging	0.90
R5951:Ttll6	UTSW	11	96145510	missense	probably damaging	1.00
R6033:Ttll6	UTSW	11	96134887	missense	probably damaging	1.00
R6033:Ttll6	UTSW	11	96134887	missense	probably damaging	1.00
R6134:Ttll6	UTSW	11	96139742	missense	possibly damaging	0.69
R6263:Ttll6	UTSW	11	96156545	missense	probably benign
R6325:Ttll6	UTSW	11	96135505	missense	probably damaging	1.00
R6395:Ttll6	UTSW	11	96156588	missense	probably benign	0.05
R6453:Ttll6	UTSW	11	96158727	missense	probably benign	0.00
R6681:Ttll6	UTSW	11	96138863	missense	probably damaging	1.00
R7481:Ttll6	UTSW	11	96154846	missense	probably benign
R7574:Ttll6	UTSW	11	96134875	missense	probably damaging	0.99
R8130:Ttll6	UTSW	11	96156599	missense	probably benign	0.05
R8771:Ttll6	UTSW	11	96151936	missense	probably damaging	1.00
R8887:Ttll6	UTSW	11	96156666	missense	possibly damaging	0.69
R9452:Ttll6	UTSW	11	96135762	missense	probably damaging	1.00
R9547:Ttll6	UTSW	11	96158762	missense	probably benign	0.01
R9581:Ttll6	UTSW	11	96158746	missense	probably benign	0.31
X0022:Ttll6	UTSW	11	96158741	missense	probably damaging	0.99
Z1176:Ttll6	UTSW	11	96134897	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCTTAGTATCCTGCACATCTGGC -3'
(R):5'- GATGGCTCAGCGGTTCTAATACCAC -3'

Sequencing Primer
(F):5'- GCTTGCTCTTGAACATCAGAGG -3'
(R):5'- AGCAGATATGCCGTTCCACTG -3'

Posted On

2013-06-12