Mutagenetix > Incidental Mutation

Incidental Mutation 'R5269:Ttl'

400030

Institutional Source

Beutler Lab

Gene Symbol

Ttl

Ensembl Gene

ENSMUSG00000027394

Gene Name

tubulin tyrosine ligase

Synonyms

MMRRC Submission

042834-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129065942-129096283 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129068911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 72 (C72S)

Ref Sequence

ENSEMBL: ENSMUSP00000046883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035812]

AlphaFold

P38585

Predicted Effect

probably damaging
Transcript: ENSMUST00000035812
AA Change: C72S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: C72S

Domain	Start	End	E-Value	Type
Pfam:TTL	54	367	1.2e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144730

Meta Mutation Damage Score

0.2341

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, impaired breathing, and fail to form the internal capsule in the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,376,743	S357P	possibly damaging	Het
Adam39	A	G	8: 40,825,981	I470V	probably benign	Het
Agrn	A	T	4: 156,168,990	C1708S	probably benign	Het
Agtpbp1	A	G	13: 59,473,743	I42T	probably damaging	Het
Akap6	T	C	12: 53,139,843	C1347R	probably damaging	Het
Als2cr12	A	G	1: 58,691,760	S46P	possibly damaging	Het
Antxr1	A	G	6: 87,180,183	L452P	probably damaging	Het
Arhgef33	T	A	17: 80,370,275	V417D	probably damaging	Het
Brca2	A	G	5: 150,539,223	I817M	possibly damaging	Het
Casp4	A	T	9: 5,321,521		probably benign	Het
Cdh20	T	C	1: 104,934,157	Y21H	possibly damaging	Het
Cdr2	C	T	7: 120,958,334	V323M	possibly damaging	Het
Cebpa	G	A	7: 35,119,858	R147H	probably benign	Het
Cetn4	C	A	3: 37,309,969	E31*	probably null	Het
Cobll1	G	A	2: 65,133,771	Q189*	probably null	Het
Colec12	A	G	18: 9,846,825	T74A	possibly damaging	Het
Crisp4	A	G	1: 18,128,710	S124P	probably damaging	Het
Eddm3b	T	A	14: 51,116,721	D55E	probably damaging	Het
Elmo1	C	A	13: 20,449,486	N439K	probably benign	Het
Fabp12	T	C	3: 10,250,107	N60S	probably benign	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat2	T	A	11: 55,287,878	H1452L	probably benign	Het
Flrt2	T	C	12: 95,779,938	V350A	possibly damaging	Het
Ganab	T	C	19: 8,911,937	F626S	probably damaging	Het
Ghr	T	C	15: 3,320,079	Y539C	probably benign	Het
Gm6871	T	C	7: 41,548,101	T112A	probably damaging	Het
Gm7133	T	A	1: 97,183,123		noncoding transcript	Het
Gon4l	A	C	3: 88,895,528	I1149L	probably benign	Het
Greb1l	G	A	18: 10,511,409	D45N	probably benign	Het
H2-K1	A	G	17: 33,997,015		probably benign	Het
Herc2	C	T	7: 56,168,870	R2770*	probably null	Het
Itsn2	A	G	12: 4,633,553		probably benign	Het
Klb	A	G	5: 65,348,797	D129G	probably damaging	Het
Klf1	A	G	8: 84,903,340	I265V	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Map3k10	T	C	7: 27,658,532	E607G	probably benign	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Mroh6	A	G	15: 75,885,790	L457P	probably damaging	Het
Mrpl21	T	A	19: 3,287,012	C128S	probably damaging	Het
Olfr564	T	C	7: 102,804,120	V214A	probably benign	Het
Paqr4	G	T	17: 23,738,213	H105Q	probably damaging	Het
Pcdhga10	A	G	18: 37,748,694	I503V	probably benign	Het
Pds5a	T	C	5: 65,663,928	N151S	probably damaging	Het
Pif1	A	G	9: 65,591,829	T444A	possibly damaging	Het
Ppp2r3a	T	C	9: 101,153,865	R851G	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Ros1	T	G	10: 52,051,008	Q2172P	probably damaging	Het
Rpe65	A	G	3: 159,604,347	T86A	probably benign	Het
Rpl18a	G	A	8: 70,896,288	R15C	possibly damaging	Het
Sh3tc2	A	G	18: 61,975,613	K258R	probably benign	Het
Ska3	T	A	14: 57,822,116	E84V	possibly damaging	Het
Slc25a40	T	A	5: 8,447,409		probably null	Het
Slf1	A	T	13: 77,104,581	S274T	probably benign	Het
Spata21	A	T	4: 141,103,021	Q267H	probably damaging	Het
Strbp	A	T	2: 37,627,443	W207R	possibly damaging	Het
Taf6l	T	C	19: 8,774,962	E454G	probably damaging	Het
Tcam1	C	A	11: 106,285,527	L360I	probably benign	Het
Tnxb	G	A	17: 34,703,608	R2465H	possibly damaging	Het
Trim66	T	A	7: 109,457,590	Y1120F	probably benign	Het
Trp53	T	A	11: 69,589,205	M243K	probably damaging	Het
Ttn	A	G	2: 76,708,896	V34582A	probably benign	Het
Uqcrh	T	C	4: 116,069,904	T31A	possibly damaging	Het
Usp40	A	G	1: 87,995,782	C256R	probably benign	Het
Vmn1r168	A	G	7: 23,541,414	E232G	probably benign	Het
Wdr72	A	T	9: 74,157,371	I562F	probably damaging	Het
Wnt4	A	G	4: 137,277,750	N24S	probably benign	Het

Other mutations in Ttl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02742:Ttl	APN	2	129066293	missense	possibly damaging	0.50
IGL02970:Ttl	APN	2	129076070	missense	probably damaging	1.00
R0363:Ttl	UTSW	2	129076061	missense	probably damaging	0.99
R2290:Ttl	UTSW	2	129081270	missense	possibly damaging	0.69
R3818:Ttl	UTSW	2	129092994	missense	probably damaging	1.00
R4345:Ttl	UTSW	2	129075858	missense	probably damaging	1.00
R4471:Ttl	UTSW	2	129082057	missense	probably benign
R4866:Ttl	UTSW	2	129081227	missense	probably damaging	1.00
R5913:Ttl	UTSW	2	129076041	missense	probably benign
R5941:Ttl	UTSW	2	129075984	missense	probably benign	0.00
R6287:Ttl	UTSW	2	129089121	missense	probably damaging	1.00
R6643:Ttl	UTSW	2	129081342	missense	possibly damaging	0.72
R6821:Ttl	UTSW	2	129068915	missense	probably damaging	1.00
R6883:Ttl	UTSW	2	129082072	missense	possibly damaging	0.81
R8273:Ttl	UTSW	2	129068933	missense	probably benign	0.05
R8354:Ttl	UTSW	2	129066184	missense	probably damaging	1.00
R8403:Ttl	UTSW	2	129081243	missense	possibly damaging	0.87
R8454:Ttl	UTSW	2	129066184	missense	probably damaging	1.00
R8817:Ttl	UTSW	2	129068858	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTACTCCATGCTTGACAAACAG -3'
(R):5'- GCAACTTAGAGGAGGCCATAGC -3'

Sequencing Primer
(F):5'- TGCTTGACAAACAGCCTGAAATG -3'
(R):5'- AGCCCTGCTATCAGTTGGTTTTAAAG -3'

Posted On

2016-07-06