Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Ttll13'

506114

Institutional Source

Beutler Lab

Gene Symbol

Ttll13

Ensembl Gene

ENSMUSG00000045467

Gene Name

tubulin tyrosine ligase-like family, member 13

Synonyms

1700111A04Rik

MMRRC Submission

044373-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80246376-80260821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80258304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 556 (T556A)

Ref Sequence

ENSEMBL: ENSMUSP00000062795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058266] [ENSMUST00000117989] [ENSMUST00000205270]

AlphaFold

A4Q9F6

Predicted Effect

probably benign
Transcript: ENSMUST00000058266
AA Change: T556A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467
AA Change: T556A

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
low complexity region	78	86	N/A	INTRINSIC
Pfam:TTL	131	427	3.4e-90	PFAM
coiled coil region	504	528	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC
low complexity region	646	657	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107381

SMART Domains

Protein: ENSMUSP00000103004
Gene: ENSMUSG00000045467

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
low complexity region	78	86	N/A	INTRINSIC
Pfam:TTL	131	427	3.5e-90	PFAM
coiled coil region	504	528	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117989

SMART Domains

Protein: ENSMUSP00000113444
Gene: ENSMUSG00000047084

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
coiled coil region	46	70	N/A	INTRINSIC
Pfam:Neugrin	73	293	1.2e-99	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138005

Predicted Effect

probably benign
Transcript: ENSMUST00000205270
AA Change: T525A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

Other mutations in Ttll13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Ttll13	APN	7	80259549	missense	possibly damaging	0.73
IGL01289:Ttll13	APN	7	80260439	missense	probably benign
IGL02026:Ttll13	APN	7	80260379	missense	probably benign	0.03
IGL02816:Ttll13	APN	7	80253094	missense	possibly damaging	0.91
R0345:Ttll13	UTSW	7	80247336	missense	probably benign	0.00
R0347:Ttll13	UTSW	7	80260505	missense	possibly damaging	0.73
R0491:Ttll13	UTSW	7	80260350	missense	probably benign
R1779:Ttll13	UTSW	7	80260508	missense	probably benign	0.33
R1983:Ttll13	UTSW	7	80253616	missense	possibly damaging	0.70
R2218:Ttll13	UTSW	7	80252502	missense	probably damaging	1.00
R2520:Ttll13	UTSW	7	80250216	missense	probably damaging	1.00
R4496:Ttll13	UTSW	7	80256919	missense	probably benign	0.08
R4736:Ttll13	UTSW	7	80248276	splice site	probably null
R5330:Ttll13	UTSW	7	80260509	missense	probably benign	0.33
R5930:Ttll13	UTSW	7	80253166	missense	probably damaging	1.00
R5985:Ttll13	UTSW	7	80254638	missense	probably damaging	1.00
R6060:Ttll13	UTSW	7	80258743	missense	probably damaging	1.00
R6182:Ttll13	UTSW	7	80260233	missense	probably benign	0.18
R6501:Ttll13	UTSW	7	80250176	missense	possibly damaging	0.89
R6901:Ttll13	UTSW	7	80250182	missense	probably damaging	1.00
R7064:Ttll13	UTSW	7	80257030	missense	probably null	0.53
R7127:Ttll13	UTSW	7	80253658	missense	possibly damaging	0.53
R7217:Ttll13	UTSW	7	80254163	missense	probably damaging	1.00
R7241:Ttll13	UTSW	7	80254163	missense	probably damaging	1.00
R7243:Ttll13	UTSW	7	80254163	missense	probably damaging	1.00
R7244:Ttll13	UTSW	7	80254163	missense	probably damaging	1.00
R7246:Ttll13	UTSW	7	80254163	missense	probably damaging	1.00
R7317:Ttll13	UTSW	7	80254163	missense	probably damaging	1.00
R7340:Ttll13	UTSW	7	80257024	missense	probably damaging	0.98
R7453:Ttll13	UTSW	7	80260434	missense	probably benign
R7579:Ttll13	UTSW	7	80258233	missense	probably benign	0.00
R7810:Ttll13	UTSW	7	80253127	missense	probably damaging	1.00
R7855:Ttll13	UTSW	7	80254097	missense	probably damaging	1.00
R7860:Ttll13	UTSW	7	80255387	missense	probably benign	0.02
R8122:Ttll13	UTSW	7	80259469	missense	probably benign	0.16
R8739:Ttll13	UTSW	7	80253175	missense	probably damaging	0.98
R9124:Ttll13	UTSW	7	80257003	missense	probably damaging	1.00
R9154:Ttll13	UTSW	7	80247434	missense	probably benign
R9157:Ttll13	UTSW	7	80254680	missense	possibly damaging	0.95
R9572:Ttll13	UTSW	7	80258260	missense	probably benign	0.09
Z1189:Ttll13	UTSW	7	80258743	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTCCAGCAACACCAGGTG -3'
(R):5'- CTTCTGTTCCAAAAGGTCAGATCC -3'

Sequencing Primer
(F):5'- ACACCAGGTGTTCCTTTCATTAG -3'
(R):5'- GTTCCAAAAGGTCAGATCCAATTTAC -3'

Posted On

2018-02-28