Mutagenetix > Incidental Mutation

Incidental Mutation 'R6883:Ttl'

536881

Institutional Source

Beutler Lab

Gene Symbol

Ttl

Ensembl Gene

ENSMUSG00000027394

Gene Name

tubulin tyrosine ligase

Synonyms

2700049H19Rik, 2410003M22Rik

MMRRC Submission

044978-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128907867-128938203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128923992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 235 (D235G)

Ref Sequence

ENSEMBL: ENSMUSP00000046883 (fasta)

Gene Model

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

AlphaFold

P38585

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035812
AA Change: D235G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: D235G

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117506
Gene: ENSMUSG00000027394
AA Change: D93G

Domain	Start	End	E-Value	Type
Pfam:TTL	1	199	2.3e-64	PFAM

Meta Mutation Damage Score

0.2823

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

92% (45/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	A	G	9: 118,985,728 (GRCm39)	S66P	possibly damaging	Het
Adh7	A	T	3: 137,929,825 (GRCm39)	E167V	probably damaging	Het
Ano6	T	C	15: 95,859,992 (GRCm39)	S705P	probably damaging	Het
Arpc1b	T	C	5: 145,063,739 (GRCm39)	V329A	probably benign	Het
Btla	C	T	16: 45,063,092 (GRCm39)	H152Y	probably benign	Het
Cadps	T	C	14: 12,465,883 (GRCm38)	E1009G	probably damaging	Het
Cttnbp2nl	A	G	3: 104,918,507 (GRCm39)		probably null	Het
Cyp4a12a	G	T	4: 115,159,221 (GRCm39)	V164F	probably damaging	Het
Duox1	G	T	2: 122,155,065 (GRCm39)		probably null	Het
Fcgbpl1	A	T	7: 27,852,260 (GRCm39)	H1261L	possibly damaging	Het
Fmo6	A	G	1: 162,757,461 (GRCm39)	I104T	probably damaging	Het
Fnbp4	T	C	2: 90,576,172 (GRCm39)		probably null	Het
Garem1	T	C	18: 21,262,769 (GRCm39)	T682A	probably benign	Het
Gm49358	A	G	10: 86,651,762 (GRCm39)	E188G	probably benign	Het
Gm5773	T	C	3: 93,681,162 (GRCm39)	I278T	probably benign	Het
Ifi27l2a	A	G	12: 103,409,756 (GRCm39)		probably benign	Het
Inpp5d	A	C	1: 87,627,412 (GRCm39)	K308T	probably damaging	Het
Irf6	A	T	1: 192,849,774 (GRCm39)	Y232F	probably damaging	Het
Kcnmb4	T	C	10: 116,309,248 (GRCm39)	Q60R	probably benign	Het
Klri2	T	C	6: 129,709,985 (GRCm39)	D205G	probably benign	Het
Mcm9	A	T	10: 53,492,110 (GRCm39)	W352R	probably damaging	Het
Nat8	A	G	6: 85,807,650 (GRCm39)	V161A	possibly damaging	Het
Nlrp9c	A	T	7: 26,077,556 (GRCm39)	M742K	probably benign	Het
Or10ag58	C	A	2: 87,265,623 (GRCm39)	T264K	probably damaging	Het
Or13j1	T	C	4: 43,705,723 (GRCm39)	T282A	possibly damaging	Het
Or5an10	C	A	19: 12,275,934 (GRCm39)	Q187H	probably damaging	Het
Pcdha11	A	T	18: 37,144,242 (GRCm39)	D111V	probably damaging	Het
Pcdhb6	A	T	18: 37,468,198 (GRCm39)	D373V	probably damaging	Het
Pcolce2	A	T	9: 95,560,396 (GRCm39)		probably null	Het
Pik3cb	T	C	9: 98,983,453 (GRCm39)	M52V	probably benign	Het
Pipox	T	C	11: 77,774,729 (GRCm39)	E118G	probably benign	Het
Pou4f2	T	C	8: 79,162,307 (GRCm39)	S99G	probably benign	Het
Ptpn12	T	A	5: 21,260,711 (GRCm39)	Q12L	probably benign	Het
Sim2	G	T	16: 93,926,395 (GRCm39)	A540S	probably benign	Het
Smg1	A	T	7: 117,767,403 (GRCm39)		probably benign	Het
Sntb1	A	G	15: 55,769,719 (GRCm39)	V90A	probably benign	Het
Spns2	T	C	11: 72,347,196 (GRCm39)		probably null	Het
Syne1	G	T	10: 5,181,704 (GRCm39)	C4210*	probably null	Het
Tek	T	C	4: 94,725,426 (GRCm39)	I564T	possibly damaging	Het
Tmem94	T	G	11: 115,687,287 (GRCm39)	C1135W	probably damaging	Het
Tnxb	T	A	17: 34,937,493 (GRCm39)	D3827E	probably damaging	Het
Tuba4a	A	G	1: 75,194,066 (GRCm39)	S5P	probably damaging	Het
Uaca	T	A	9: 60,777,173 (GRCm39)	V518D	probably damaging	Het
Unc80	A	T	1: 66,685,563 (GRCm39)	Q2229L	probably benign	Het
Unkl	C	T	17: 25,449,307 (GRCm39)	A78V	probably damaging	Het
Uroc1	C	T	6: 90,315,574 (GRCm39)	Q152*	probably null	Het
Vmn2r51	G	T	7: 9,834,025 (GRCm39)	Q338K	possibly damaging	Het
Vps50	C	T	6: 3,498,513 (GRCm39)		probably benign	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
R6821:Ttl	UTSW	2	128,910,835 (GRCm39)	missense	probably damaging	1.00
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'- TCCCTACAAATGGTCAAGGTGTG -3'
(R):5'- GAGGGGTACAACGAACTTACC -3'

Sequencing Primer
(F):5'- GGACTGTCTCAAAGGACTCTATCTG -3'
(R):5'- GGGTACAACGAACTTACCTTATTATG -3'

Posted On

2018-10-18