Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00230:Ttll12'

2124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll12

Ensembl Gene

ENSMUSG00000016757

Gene Name

tubulin tyrosine ligase-like family, member 12

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

83575090-83595157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83578656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 536 (E536D)

Ref Sequence

ENSEMBL: ENSMUSP00000016901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016901] [ENSMUST00000047419] [ENSMUST00000136066]

AlphaFold

Q3UDE2

Predicted Effect

probably benign
Transcript: ENSMUST00000016901
AA Change: E536D

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: E536D

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
Pfam:TTL	341	637	7.4e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047419

SMART Domains

Protein: ENSMUSP00000037039
Gene: ENSMUSG00000041736

Domain	Start	End	E-Value	Type
Pfam:TspO_MBR	9	157	1e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134334

Predicted Effect

probably benign
Transcript: ENSMUST00000136066

SMART Domains

Protein: ENSMUSP00000117161
Gene: ENSMUSG00000016757

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
low complexity region	66	79	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Ttll12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Ttll12	APN	15	83582448	missense	possibly damaging	0.65
IGL01746:Ttll12	APN	15	83578676	missense	probably damaging	1.00
IGL02102:Ttll12	APN	15	83582063	missense	probably damaging	1.00
IGL02475:Ttll12	APN	15	83587101	missense	probably damaging	1.00
IGL02484:Ttll12	APN	15	83581696	missense	possibly damaging	0.94
R0403:Ttll12	UTSW	15	83580658	splice site	probably benign
R1477:Ttll12	UTSW	15	83580102	missense	probably damaging	1.00
R1530:Ttll12	UTSW	15	83588655	missense	probably damaging	1.00
R1925:Ttll12	UTSW	15	83581775	missense	probably benign	0.06
R3508:Ttll12	UTSW	15	83580630	missense	probably damaging	0.98
R3972:Ttll12	UTSW	15	83582096	missense	probably damaging	1.00
R4198:Ttll12	UTSW	15	83577013	missense	probably damaging	1.00
R4200:Ttll12	UTSW	15	83577013	missense	probably damaging	1.00
R4357:Ttll12	UTSW	15	83581757	missense	probably damaging	1.00
R4740:Ttll12	UTSW	15	83580120	missense	probably damaging	1.00
R5024:Ttll12	UTSW	15	83587113	missense	probably damaging	1.00
R5870:Ttll12	UTSW	15	83577036	missense	probably damaging	0.97
R6824:Ttll12	UTSW	15	83591377	critical splice donor site	probably null
R7034:Ttll12	UTSW	15	83586885	missense	probably benign
R7036:Ttll12	UTSW	15	83586885	missense	probably benign
R7447:Ttll12	UTSW	15	83586975	missense	probably damaging	1.00
R8496:Ttll12	UTSW	15	83577809	missense	probably damaging	1.00
R8721:Ttll12	UTSW	15	83580583	missense	probably damaging	1.00
R8841:Ttll12	UTSW	15	83581792	splice site	probably benign
R9199:Ttll12	UTSW	15	83582358	missense	probably damaging	0.99
R9202:Ttll12	UTSW	15	83582063	missense	probably damaging	1.00
Z1088:Ttll12	UTSW	15	83582078	missense	probably damaging	1.00

Posted On

2011-12-09