Mutagenetix > Incidental Mutations

Incidental Mutation 'R2034:Ttll6'

224359

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

040041-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96133786-96165451 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96135526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 86 (D86Y)

Ref Sequence

ENSEMBL: ENSMUSP00000127778 (fasta)

Gene Model

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

AlphaFold

A4Q9E8

Predicted Effect

probably benign
Transcript: ENSMUST00000107680

SMART Domains

Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756

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 damaging
Transcript: ENSMUST00000167258
AA Change: D86Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: D86Y

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,900,559	I65V	probably benign	Het
Abca13	A	G	11: 9,292,628	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,835,235	N184K	probably benign	Het
Ampd2	A	T	3: 108,077,363	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,648,458	D1018G	possibly damaging	Het
Ano9	T	A	7: 141,108,135	I223F	probably damaging	Het
B3gnt6	A	G	7: 98,194,018	L245P	possibly damaging	Het
Bag6	G	A	17: 35,144,692	R784Q	probably damaging	Het
Brca1	C	G	11: 101,489,849	S1786T	probably benign	Het
Btbd3	T	G	2: 138,278,983	S26A	probably benign	Het
Cacna1d	C	A	14: 30,089,863	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491	T6I	probably damaging	Het
Col7a1	T	C	9: 108,963,007	V1262A	unknown	Het
Crh	C	A	3: 19,694,098	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,613,538	L64*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddc	T	A	11: 11,880,456	I63L	probably benign	Het
Eif3a	C	T	19: 60,762,130		probably benign	Het
Fsip2	T	A	2: 82,989,494	N5190K	probably benign	Het
Gm5420	A	G	10: 21,691,613		noncoding transcript	Het
Grb14	A	G	2: 64,923,529		probably benign	Het
Gsap	A	T	5: 21,270,595	I545F	probably damaging	Het
Hectd1	A	T	12: 51,757,116		probably null	Het
Helz2	G	A	2: 181,232,578	P2041L	probably damaging	Het
Herc1	G	A	9: 66,441,972	A2038T	probably benign	Het
Il10	C	A	1: 131,024,185	Q152K	probably benign	Het
Klrg1	A	G	6: 122,279,637		probably null	Het
Lrig2	T	C	3: 104,494,092	T160A	probably benign	Het
Mmd2	A	T	5: 142,575,184		probably null	Het
Mmp2	C	T	8: 92,836,912	S338F	probably damaging	Het
Nalcn	T	G	14: 123,283,603	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,164,983	S909G	probably benign	Het
Neb	A	T	2: 52,280,611	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,458,370	I637V	possibly damaging	Het
Npw	G	A	17: 24,658,268	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,275,564		probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nup188	T	A	2: 30,310,085		probably benign	Het
Olfr1444	T	A	19: 12,861,787	M4K	possibly damaging	Het
Olfr726	T	C	14: 50,083,983	M233V	probably benign	Het
Parp4	A	T	14: 56,634,263	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,422,493	V292A	probably benign	Het
Pcnx2	A	G	8: 125,818,667		probably null	Het
Phf2	A	G	13: 48,817,730	S489P	unknown	Het
Pik3r5	T	A	11: 68,493,577	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,222,357	E432D	probably damaging	Het
Pink1	T	C	4: 138,318,032	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,200,669	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,780,594	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,157,927	V492A	possibly damaging	Het
Prp2	G	T	6: 132,595,984		probably null	Het
Rabl6	T	C	2: 25,585,432	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605		probably null	Het
Rps6kb2	T	C	19: 4,161,107	T140A	probably damaging	Het
S100a11	T	C	3: 93,526,122	I91T	probably benign	Het
Serpine2	A	G	1: 79,796,852	L230P	probably damaging	Het
Sh3tc2	A	G	18: 61,987,666	D370G	probably damaging	Het
Sim2	A	C	16: 94,085,942	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,183,583	L419P	probably damaging	Het
Srgap1	C	T	10: 121,792,746	E817K	probably damaging	Het
Stag3	A	G	5: 138,298,001	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,820,421	N361S	probably damaging	Het
Tmco6	A	G	18: 36,737,856		probably null	Het
Tmem104	T	A	11: 115,243,547	I303N	probably benign	Het
Vmn1r120	T	G	7: 21,052,958	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,883,989	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,426,373		probably benign	Het
Vwa3a	A	T	7: 120,782,645	K568*	probably null	Het
Zcchc11	C	T	4: 108,512,195	R651W	probably damaging	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
R0533:Ttll6	UTSW	11	96154756	missense	probably benign	0.00
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
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
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'- CCATGTAGCCTCAGATGTACCC -3'
(R):5'- ATTCCGGCTGAGATTCAAAGC -3'

Sequencing Primer
(F):5'- TAGCCTCAGATGTACCCTTCAATAAC -3'
(R):5'- CTGAGATTCAAAGCAGGGCTAG -3'

Posted On

2014-08-25