Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02071:Ttll2'

185805

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll2

Ensembl Gene

ENSMUSG00000079722

Gene Name

tubulin tyrosine ligase-like family, member 2

Synonyms

EG625850

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL02071

Quality Score

Status

Chromosome

Chromosomal Location

7618284-7620095 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7619130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 266 (Y266N)

Ref Sequence

ENSEMBL: ENSMUSP00000111413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115747] [ENSMUST00000231397]

AlphaFold

A4Q9E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000115747
AA Change: Y266N

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

SMART Domains

Protein: ENSMUSP00000111413
Gene: ENSMUSG00000079722
AA Change: Y266N

Domain	Start	End	E-Value	Type
Pfam:TTL	91	383	1.2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231397

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,400,676 (GRCm39)	R92C	probably damaging	Het
Adam29	C	A	8: 56,324,589 (GRCm39)	V622L	possibly damaging	Het
Bzw2	T	C	12: 36,157,502 (GRCm39)	H321R	probably benign	Het
C2cd2	C	T	16: 97,671,432 (GRCm39)	R489Q	probably damaging	Het
Cdh23	G	A	10: 60,359,339 (GRCm39)	T253I	possibly damaging	Het
Col4a3	T	G	1: 82,638,608 (GRCm39)		probably null	Het
D630039A03Rik	T	C	4: 57,910,309 (GRCm39)	T168A	possibly damaging	Het
Dnajc19	A	G	3: 34,132,914 (GRCm39)	L97P	possibly damaging	Het
Dpep2	A	T	8: 106,711,776 (GRCm39)	H550Q	probably benign	Het
Dvl2	C	A	11: 69,895,626 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,204,149 (GRCm39)		probably null	Het
Fxyd5	A	G	7: 30,739,613 (GRCm39)	V32A	possibly damaging	Het
Itprid1	C	A	6: 55,944,710 (GRCm39)	S477*	probably null	Het
Mak16	A	T	8: 31,650,557 (GRCm39)	S251T	probably benign	Het
Med10	T	C	13: 69,963,747 (GRCm39)	V116A	probably benign	Het
Mycbp2	G	A	14: 103,392,343 (GRCm39)	R50*	probably null	Het
Nckap5	G	A	1: 125,909,305 (GRCm39)	P272L	probably damaging	Het
Nf1	T	A	11: 79,334,947 (GRCm39)	V933E	possibly damaging	Het
Nrxn2	T	A	19: 6,531,783 (GRCm39)	V749E	probably damaging	Het
Or51e2	A	C	7: 102,391,355 (GRCm39)	V285G	probably damaging	Het
Or5al1	C	A	2: 85,990,219 (GRCm39)	R165L	probably benign	Het
Osbpl9	T	C	4: 108,929,176 (GRCm39)	Y417C	probably damaging	Het
Otop1	G	A	5: 38,445,327 (GRCm39)	A162T	probably damaging	Het
Patl1	C	A	19: 11,917,054 (GRCm39)	P634T	probably damaging	Het
Ppl	A	T	16: 4,930,936 (GRCm39)	S28T	probably benign	Het
Prkar2b	C	T	12: 32,013,016 (GRCm39)	G367R	probably damaging	Het
Rbl2	G	A	8: 91,828,826 (GRCm39)	V576I	probably damaging	Het
Rgl3	C	T	9: 21,899,559 (GRCm39)	A53T	probably benign	Het
Rp1	T	A	1: 4,415,533 (GRCm39)	I1860F	possibly damaging	Het
Sbno2	A	T	10: 79,896,475 (GRCm39)	D877E	probably damaging	Het
Sectm1b	C	T	11: 120,946,761 (GRCm39)	V45I	probably damaging	Het
Sfmbt2	G	A	2: 10,582,763 (GRCm39)	V741I	probably benign	Het
Sugt1	T	A	14: 79,847,723 (GRCm39)	L191*	probably null	Het
Tcf21	A	T	10: 22,693,709 (GRCm39)	V156E	possibly damaging	Het
Tep1	T	A	14: 51,071,506 (GRCm39)	R2046S	possibly damaging	Het
Tmem181a	T	C	17: 6,347,531 (GRCm39)	F241S	probably damaging	Het
Traf6	G	A	2: 101,527,138 (GRCm39)	C296Y	probably benign	Het
Trim40	A	G	17: 37,200,070 (GRCm39)	S3P	probably benign	Het
Vps54	A	G	11: 21,225,071 (GRCm39)	N177S	probably null	Het

Other mutations in Ttll2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03190:Ttll2	APN	17	7,618,779 (GRCm39)	missense	probably benign	0.05
R1922:Ttll2	UTSW	17	7,619,789 (GRCm39)	missense	probably damaging	0.99
R2237:Ttll2	UTSW	17	7,619,522 (GRCm39)	missense	probably benign	0.03
R2892:Ttll2	UTSW	17	7,620,098 (GRCm39)	splice site	probably null
R4388:Ttll2	UTSW	17	7,618,599 (GRCm39)	nonsense	probably null
R4389:Ttll2	UTSW	17	7,618,599 (GRCm39)	nonsense	probably null
R4534:Ttll2	UTSW	17	7,619,120 (GRCm39)	missense	probably benign	0.02
R4535:Ttll2	UTSW	17	7,619,120 (GRCm39)	missense	probably benign	0.02
R4536:Ttll2	UTSW	17	7,619,120 (GRCm39)	missense	probably benign	0.02
R4868:Ttll2	UTSW	17	7,618,998 (GRCm39)	missense	probably benign	0.07
R4870:Ttll2	UTSW	17	7,618,998 (GRCm39)	missense	probably benign	0.07
R4871:Ttll2	UTSW	17	7,618,998 (GRCm39)	missense	probably benign	0.07
R5990:Ttll2	UTSW	17	7,619,766 (GRCm39)	missense	possibly damaging	0.95
R6145:Ttll2	UTSW	17	7,619,031 (GRCm39)	missense	probably benign	0.08
R6332:Ttll2	UTSW	17	7,619,167 (GRCm39)	missense	probably damaging	1.00
R7893:Ttll2	UTSW	17	7,619,490 (GRCm39)	missense	probably benign	0.15
R8250:Ttll2	UTSW	17	7,618,767 (GRCm39)	missense	probably benign	0.00
R8673:Ttll2	UTSW	17	7,619,340 (GRCm39)	missense	possibly damaging	0.81
R9036:Ttll2	UTSW	17	7,619,054 (GRCm39)	missense	probably benign	0.01
R9429:Ttll2	UTSW	17	7,620,085 (GRCm39)	missense	probably damaging	1.00
R9455:Ttll2	UTSW	17	7,619,692 (GRCm39)	missense	probably damaging	1.00
R9773:Ttll2	UTSW	17	7,618,676 (GRCm39)	missense	probably benign	0.17
R9784:Ttll2	UTSW	17	7,618,707 (GRCm39)	missense	probably benign	0.01
RF010:Ttll2	UTSW	17	7,618,737 (GRCm39)	missense	probably benign	0.05
Z1088:Ttll2	UTSW	17	7,618,925 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07