Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02102:Ttll12'

279803

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02102

Quality Score

Status

Chromosome

Chromosomal Location

83459295-83479358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83466264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 399 (F399S)

Ref Sequence

ENSEMBL: ENSMUSP00000016901 (fasta)

Gene Model

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

AlphaFold

Q3UDE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000016901
AA Change: F399S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: F399S

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
Pfam:TTL	341	637	7.4e-78	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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,754,420 (GRCm39)	T1338A	probably benign	Het
Adcy3	G	A	12: 4,184,699 (GRCm39)	C125Y	probably damaging	Het
Aoc1	A	T	6: 48,882,896 (GRCm39)	K257N	probably damaging	Het
Apob	T	C	12: 8,039,407 (GRCm39)	V497A	possibly damaging	Het
Atp8b5	T	A	4: 43,364,167 (GRCm39)	V684D	probably benign	Het
AW551984	A	G	9: 39,500,987 (GRCm39)	W763R	probably damaging	Het
Blm	G	A	7: 80,119,504 (GRCm39)	T1026M	probably damaging	Het
Cd160	A	G	3: 96,712,886 (GRCm39)	I126T	possibly damaging	Het
Cdk14	T	C	5: 5,430,083 (GRCm39)	K15E	probably benign	Het
Cnot6l	T	C	5: 96,239,518 (GRCm39)	K261R	probably damaging	Het
Cyp3a13	T	G	5: 137,909,865 (GRCm39)	T153P	probably benign	Het
Ddx24	A	G	12: 103,374,743 (GRCm39)		probably benign	Het
Dido1	G	A	2: 180,304,040 (GRCm39)	T1288I	possibly damaging	Het
Dnajc13	A	G	9: 104,106,208 (GRCm39)	V322A	possibly damaging	Het
Dnajc25	T	A	4: 59,017,693 (GRCm39)	Y117*	probably null	Het
Dsg1a	A	G	18: 20,465,089 (GRCm39)	N427D	probably benign	Het
Gabrq	T	G	X: 71,871,151 (GRCm39)		probably null	Het
Glce	A	G	9: 61,977,883 (GRCm39)		probably benign	Het
Gm10477	T	C	X: 55,570,761 (GRCm39)	L45P	probably damaging	Het
Htt	T	A	5: 35,048,825 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,252,104 (GRCm39)	E317G	probably benign	Het
Jak1	A	G	4: 101,016,283 (GRCm39)	M827T	probably benign	Het
Kalrn	A	G	16: 34,040,592 (GRCm39)	V932A	probably damaging	Het
Mdm2	A	C	10: 117,528,622 (GRCm39)	S227R	possibly damaging	Het
Or14a259	T	C	7: 86,013,074 (GRCm39)	Y157C	probably benign	Het
Or4c111	A	G	2: 88,843,470 (GRCm39)		probably benign	Het
Or5ak25	A	G	2: 85,268,611 (GRCm39)	V297A	probably damaging	Het
Or5g27	G	A	2: 85,410,017 (GRCm39)	V145I	probably damaging	Het
Or5w22	T	C	2: 87,362,805 (GRCm39)	F143L	probably benign	Het
Pdilt	T	G	7: 119,086,173 (GRCm39)	E514A	probably benign	Het
Pepd	A	G	7: 34,645,028 (GRCm39)	D153G	probably damaging	Het
Ptgis	A	T	2: 167,067,367 (GRCm39)	V70E	probably damaging	Het
Rnf112	T	C	11: 61,342,841 (GRCm39)	K262E	probably benign	Het
Setd5	G	T	6: 113,127,946 (GRCm39)	G1300*	probably null	Het
Snx15	A	G	19: 6,172,104 (GRCm39)	L113P	possibly damaging	Het
Sptbn1	T	C	11: 30,087,427 (GRCm39)	D1004G	probably damaging	Het
Ston2	A	C	12: 91,606,498 (GRCm39)	*896G	probably null	Het
Suco	A	G	1: 161,655,274 (GRCm39)	S1073P	probably damaging	Het
Susd1	A	C	4: 59,369,636 (GRCm39)	D344E	possibly damaging	Het
Trnt1	G	T	6: 106,755,073 (GRCm39)		probably null	Het
Vmn1r124	C	T	7: 20,994,467 (GRCm39)	V26I	probably benign	Het
Vmn1r52	T	A	6: 90,156,189 (GRCm39)	N164K	possibly damaging	Het
Vmn1r56	A	T	7: 5,199,335 (GRCm39)	M94K	possibly damaging	Het
Vmn1r80	T	C	7: 11,927,618 (GRCm39)	F243L	probably damaging	Het
Zdhhc8	G	A	16: 18,043,063 (GRCm39)	S379F	possibly damaging	Het

Other mutations in Ttll12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ttll12	APN	15	83,462,857 (GRCm39)	missense	probably benign	0.15
IGL00942:Ttll12	APN	15	83,466,649 (GRCm39)	missense	possibly damaging	0.65
IGL01746:Ttll12	APN	15	83,462,877 (GRCm39)	missense	probably damaging	1.00
IGL02475:Ttll12	APN	15	83,471,302 (GRCm39)	missense	probably damaging	1.00
IGL02484:Ttll12	APN	15	83,465,897 (GRCm39)	missense	possibly damaging	0.94
R0403:Ttll12	UTSW	15	83,464,859 (GRCm39)	splice site	probably benign
R1477:Ttll12	UTSW	15	83,464,303 (GRCm39)	missense	probably damaging	1.00
R1530:Ttll12	UTSW	15	83,472,856 (GRCm39)	missense	probably damaging	1.00
R1925:Ttll12	UTSW	15	83,465,976 (GRCm39)	missense	probably benign	0.06
R3508:Ttll12	UTSW	15	83,464,831 (GRCm39)	missense	probably damaging	0.98
R3972:Ttll12	UTSW	15	83,466,297 (GRCm39)	missense	probably damaging	1.00
R4198:Ttll12	UTSW	15	83,461,214 (GRCm39)	missense	probably damaging	1.00
R4200:Ttll12	UTSW	15	83,461,214 (GRCm39)	missense	probably damaging	1.00
R4357:Ttll12	UTSW	15	83,465,958 (GRCm39)	missense	probably damaging	1.00
R4740:Ttll12	UTSW	15	83,464,321 (GRCm39)	missense	probably damaging	1.00
R5024:Ttll12	UTSW	15	83,471,314 (GRCm39)	missense	probably damaging	1.00
R5870:Ttll12	UTSW	15	83,461,237 (GRCm39)	missense	probably damaging	0.97
R6824:Ttll12	UTSW	15	83,475,578 (GRCm39)	critical splice donor site	probably null
R7034:Ttll12	UTSW	15	83,471,086 (GRCm39)	missense	probably benign
R7036:Ttll12	UTSW	15	83,471,086 (GRCm39)	missense	probably benign
R7447:Ttll12	UTSW	15	83,471,176 (GRCm39)	missense	probably damaging	1.00
R8496:Ttll12	UTSW	15	83,462,010 (GRCm39)	missense	probably damaging	1.00
R8721:Ttll12	UTSW	15	83,464,784 (GRCm39)	missense	probably damaging	1.00
R8841:Ttll12	UTSW	15	83,465,993 (GRCm39)	splice site	probably benign
R9199:Ttll12	UTSW	15	83,466,559 (GRCm39)	missense	probably damaging	0.99
R9202:Ttll12	UTSW	15	83,466,264 (GRCm39)	missense	probably damaging	1.00
Z1088:Ttll12	UTSW	15	83,466,279 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16