Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01061:Ttll8'

52750

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll8

Ensembl Gene

ENSMUSG00000022388

Gene Name

tubulin tyrosine ligase-like family, member 8

Synonyms

1700019P01Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

88890633-88954418 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88917250 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 412 (R412C)

Ref Sequence

ENSEMBL: ENSMUSP00000104996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109371] [ENSMUST00000177180]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109371
AA Change: R412C

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104996
Gene: ENSMUSG00000022388
AA Change: R412C

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
low complexity region	273	285	N/A	INTRINSIC
Pfam:TTL	324	621	3.9e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137740

Predicted Effect

probably benign
Transcript: ENSMUST00000177180

SMART Domains

Protein: ENSMUSP00000135381
Gene: ENSMUSG00000022388

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177254

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,728,860	C186*	probably null	Het
Ankmy1	A	T	1: 92,870,974		probably benign	Het
B3gnt2	T	A	11: 22,836,042	E382V	probably damaging	Het
Carmil3	T	G	14: 55,498,630	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,447,625		probably benign	Het
Chek1	G	A	9: 36,714,519	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,266,516	I92L	probably benign	Het
Ddx56	C	T	11: 6,264,671		probably null	Het
Dicer1	A	T	12: 104,706,327	M887K	probably null	Het
Dnajc18	A	G	18: 35,680,942		probably benign	Het
Dock2	A	G	11: 34,705,826	V401A	probably damaging	Het
Dock4	A	C	12: 40,702,969	N434T	probably benign	Het
Ehbp1l1	A	T	19: 5,717,888	M1129K	probably benign	Het
Fam83a	A	T	15: 57,986,375	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 31,083,042	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,168,354	F414L	possibly damaging	Het
Kdelc2	A	G	9: 53,388,587		probably benign	Het
Kndc1	A	T	7: 139,922,694	E965D	probably benign	Het
Lrrc66	T	C	5: 73,615,499	K209E	probably benign	Het
Mcm3	A	T	1: 20,814,496	I261N	possibly damaging	Het
Mier3	T	A	13: 111,714,436		probably benign	Het
Muc6	T	C	7: 141,648,454	E669G	probably damaging	Het
Myh1	T	A	11: 67,217,862	M1368K	probably benign	Het
Nav1	A	G	1: 135,450,630	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,375,134	L363F	probably damaging	Het
Olfr113	A	G	17: 37,574,904	I173T	possibly damaging	Het
Olfr1502	T	C	19: 13,862,705	V304A	possibly damaging	Het
Olfr690	A	G	7: 105,329,382	I270T	possibly damaging	Het
Pkd1l3	A	G	8: 109,638,706	H1153R	probably damaging	Het
Ppp6r2	A	T	15: 89,286,015		probably benign	Het
Prelid3b	T	C	2: 174,465,821		probably null	Het
Prrt3	T	C	6: 113,497,770	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,688,210	D60E	probably damaging	Het
Rab32	A	G	10: 10,557,874	L72P	probably damaging	Het
Samm50	A	G	15: 84,202,254	T225A	probably benign	Het
Snx27	T	A	3: 94,528,980		probably benign	Het
Taf7	G	A	18: 37,643,433	T27M	probably damaging	Het
Tgm5	A	T	2: 121,071,496	C231S	probably benign	Het
Tll1	A	G	8: 64,038,454		probably null	Het
Tmem150a	A	G	6: 72,357,118	D61G	probably damaging	Het
Ubr3	T	A	2: 69,983,225	D1293E	probably benign	Het
Utp20	T	C	10: 88,770,704	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,488,184	W355R	probably damaging	Het
Wdr60	C	A	12: 116,229,704	A543S	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfhx2	T	A	14: 55,073,882	N452Y	possibly damaging	Het
Zfp180	T	G	7: 24,104,745	D196E	possibly damaging	Het

Other mutations in Ttll8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Ttll8	APN	15	88914153	missense	probably benign
IGL00895:Ttll8	APN	15	88933528	missense	probably damaging	1.00
IGL01661:Ttll8	APN	15	88935999	splice site	probably benign
IGL01992:Ttll8	APN	15	88915645	missense	possibly damaging	0.48
IGL02212:Ttll8	APN	15	88917247	missense	probably benign	0.04
IGL02234:Ttll8	APN	15	88914049	missense	possibly damaging	0.53
IGL02569:Ttll8	APN	15	88933926	nonsense	probably null
IGL02935:Ttll8	APN	15	88914556	missense	probably benign	0.10
IGL03064:Ttll8	APN	15	88919594	missense	probably benign	0.22
R0969:Ttll8	UTSW	15	88933935	missense	probably damaging	1.00
R1637:Ttll8	UTSW	15	88914444	missense	probably benign	0.12
R1939:Ttll8	UTSW	15	88915486	missense	probably damaging	1.00
R1992:Ttll8	UTSW	15	88914451	missense	probably benign	0.00
R2173:Ttll8	UTSW	15	88914597	missense	probably damaging	1.00
R2201:Ttll8	UTSW	15	88933953	missense	possibly damaging	0.57
R2414:Ttll8	UTSW	15	88936133	splice site	probably benign
R2905:Ttll8	UTSW	15	88914477	missense	probably benign	0.00
R4159:Ttll8	UTSW	15	88917241	missense	probably benign	0.00
R4368:Ttll8	UTSW	15	88914181	missense	possibly damaging	0.88
R4395:Ttll8	UTSW	15	88915580	missense	possibly damaging	0.80
R4707:Ttll8	UTSW	15	88917090	missense	probably damaging	0.99
R4926:Ttll8	UTSW	15	88914165	missense	probably damaging	0.98
R4983:Ttll8	UTSW	15	88925582	missense	probably benign	0.08
R5698:Ttll8	UTSW	15	88939006	missense	possibly damaging	0.85
R5752:Ttll8	UTSW	15	88932728	missense	probably benign	0.00
R5834:Ttll8	UTSW	15	88917246	missense	possibly damaging	0.48
R5889:Ttll8	UTSW	15	88933939	missense	probably damaging	1.00
R6528:Ttll8	UTSW	15	88914238	missense	probably benign	0.03
R6931:Ttll8	UTSW	15	88914304	missense	possibly damaging	0.55
R7133:Ttll8	UTSW	15	88915427	missense	probably damaging	0.99
R7268:Ttll8	UTSW	15	88934956	critical splice donor site	probably null
R7286:Ttll8	UTSW	15	88917239	missense	probably benign	0.01
R7502:Ttll8	UTSW	15	88933436	critical splice donor site	probably null
R7580:Ttll8	UTSW	15	88933929	missense	probably damaging	0.99
R7734:Ttll8	UTSW	15	88914165	missense	probably damaging	0.98
R7978:Ttll8	UTSW	15	88915362	missense	probably benign	0.09
R8074:Ttll8	UTSW	15	88915375	missense	probably damaging	1.00
R8351:Ttll8	UTSW	15	88914435	missense	probably benign	0.06
R8407:Ttll8	UTSW	15	88914538	missense	probably benign	0.01
X0058:Ttll8	UTSW	15	88917130	nonsense	probably null

Posted On

2013-06-21