Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Ttl'

537604

Institutional Source

Beutler Lab

Gene Symbol

Ttl

Ensembl Gene

ENSMUSG00000027394

Gene Name

tubulin tyrosine ligase

Synonyms

2700049H19Rik, 2410003M22Rik

MMRRC Submission

044933-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128907867-128938203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128910835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 73 (R73H)

Ref Sequence

ENSEMBL: ENSMUSP00000046883 (fasta)

Gene Model

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

AlphaFold

P38585

Predicted Effect

probably damaging
Transcript: ENSMUST00000035812
AA Change: R73H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: R73H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,277,268 (GRCm39)	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,134 (GRCm39)	K208T	probably benign	Het
Adamts8	T	A	9: 30,867,922 (GRCm39)	L582Q	probably benign	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Ano9	A	T	7: 140,687,169 (GRCm39)	F357I	possibly damaging	Het
Aox3	T	C	1: 58,189,547 (GRCm39)	V416A	probably benign	Het
Arhgap21	A	C	2: 20,853,659 (GRCm39)	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,855,480 (GRCm39)	F506I	probably damaging	Het
Atp9b	A	T	18: 80,890,463 (GRCm39)	L292H	probably damaging	Het
C2cd5	A	G	6: 142,963,712 (GRCm39)	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,731,072 (GRCm39)	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,085,044 (GRCm39)	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
D630003M21Rik	A	C	2: 158,046,694 (GRCm39)	L761R	probably damaging	Het
Draxin	G	T	4: 148,200,148 (GRCm39)	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,753,430 (GRCm39)	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,845,855 (GRCm39)	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha4	T	C	1: 77,359,582 (GRCm39)	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,813,083 (GRCm39)	I96V	probably benign	Het
Gars1	A	G	6: 55,056,323 (GRCm39)	E728G	probably benign	Het
Gldn	T	C	9: 54,246,054 (GRCm39)	M535T	probably benign	Het
Gm47985	A	G	1: 151,058,787 (GRCm39)	T143A	possibly damaging	Het
Gpr6	T	C	10: 40,947,004 (GRCm39)	T193A	probably benign	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,438,719 (GRCm39)	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,099,745 (GRCm39)	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,312,060 (GRCm39)	I2T	probably benign	Het
Ints9	A	G	14: 65,274,907 (GRCm39)	E621G	probably benign	Het
Itm2b	G	A	14: 73,603,907 (GRCm39)	P47S	probably benign	Het
Map10	A	G	8: 126,397,138 (GRCm39)	K177R	probably benign	Het
Mdh2	T	C	5: 135,818,525 (GRCm39)	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,077,723 (GRCm39)	T573A	probably benign	Het
Mycbp2	A	T	14: 103,376,845 (GRCm39)	I3812N	probably damaging	Het
Myo15a	A	G	11: 60,415,301 (GRCm39)	N3403S	probably damaging	Het
Nvl	G	A	1: 180,954,535 (GRCm39)	Q343*	probably null	Het
Ocstamp	A	T	2: 165,239,842 (GRCm39)	S115T	probably benign	Het
Or51ai2	A	T	7: 103,586,793 (GRCm39)	I69F	probably benign	Het
Otoa	G	A	7: 120,692,070 (GRCm39)		probably null	Het
Pcdhb20	A	T	18: 37,639,175 (GRCm39)	N567I	probably damaging	Het
Pgm5	A	T	19: 24,839,011 (GRCm39)	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,314,174 (GRCm39)	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,527,805 (GRCm39)	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,785 (GRCm39)	K287E	possibly damaging	Het
Pramel23	A	T	4: 143,425,874 (GRCm39)	L23*	probably null	Het
Rad54b	A	G	4: 11,612,777 (GRCm39)	D803G	probably damaging	Het
Rbm26	G	A	14: 105,354,400 (GRCm39)		probably benign	Het
Rspry1	C	T	8: 95,362,059 (GRCm39)	Q113*	probably null	Het
Siah2	T	A	3: 58,599,191 (GRCm39)	S16C	probably benign	Het
Sirpa	C	A	2: 129,472,017 (GRCm39)	D481E	probably damaging	Het
Slc38a7	A	C	8: 96,571,548 (GRCm39)	D227E	probably benign	Het
Smc5	A	G	19: 23,220,151 (GRCm39)	V438A	probably benign	Het
Spast	A	G	17: 74,658,957 (GRCm39)	E108G	probably benign	Het
Speg	A	G	1: 75,394,547 (GRCm39)	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,777,316 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,773,950 (GRCm39)	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,510,685 (GRCm39)	S522G	possibly damaging	Het
Trav14-3	A	G	14: 54,000,929 (GRCm39)	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,760,906 (GRCm39)	V109A	possibly damaging	Het
Usp34	C	T	11: 23,317,491 (GRCm39)	T850I	possibly damaging	Het
Vdac3	T	C	8: 23,070,491 (GRCm39)	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,843,659 (GRCm39)	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,577,331 (GRCm39)	Y461N	probably damaging	Het
Wt1	T	A	2: 105,002,612 (GRCm39)	F493I	probably damaging	Het

Other mutations in Ttl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02742:Ttl	APN	2	128,908,213 (GRCm39)	missense	possibly damaging	0.50
IGL02970:Ttl	APN	2	128,917,990 (GRCm39)	missense	probably damaging	1.00
R0363:Ttl	UTSW	2	128,917,981 (GRCm39)	missense	probably damaging	0.99
R2290:Ttl	UTSW	2	128,923,190 (GRCm39)	missense	possibly damaging	0.69
R3818:Ttl	UTSW	2	128,934,914 (GRCm39)	missense	probably damaging	1.00
R4345:Ttl	UTSW	2	128,917,778 (GRCm39)	missense	probably damaging	1.00
R4471:Ttl	UTSW	2	128,923,977 (GRCm39)	missense	probably benign
R4866:Ttl	UTSW	2	128,923,147 (GRCm39)	missense	probably damaging	1.00
R5269:Ttl	UTSW	2	128,910,831 (GRCm39)	missense	probably damaging	1.00
R5913:Ttl	UTSW	2	128,917,961 (GRCm39)	missense	probably benign
R5941:Ttl	UTSW	2	128,917,904 (GRCm39)	missense	probably benign	0.00
R6287:Ttl	UTSW	2	128,931,041 (GRCm39)	missense	probably damaging	1.00
R6643:Ttl	UTSW	2	128,923,262 (GRCm39)	missense	possibly damaging	0.72
R6883:Ttl	UTSW	2	128,923,992 (GRCm39)	missense	possibly damaging	0.81
R8273:Ttl	UTSW	2	128,910,853 (GRCm39)	missense	probably benign	0.05
R8354:Ttl	UTSW	2	128,908,104 (GRCm39)	missense	probably damaging	1.00
R8403:Ttl	UTSW	2	128,923,163 (GRCm39)	missense	possibly damaging	0.87
R8454:Ttl	UTSW	2	128,908,104 (GRCm39)	missense	probably damaging	1.00
R8817:Ttl	UTSW	2	128,910,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATGCTTGACAAACAGCC -3'
(R):5'- TCAAAGCAACTTAGAGGAGGCC -3'

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

Posted On

2018-10-18