Mutagenetix > Incidental Mutations

Incidental Mutation 'R6036:Ttll7'

479199

Institutional Source

Beutler Lab

Gene Symbol

Ttll7

Ensembl Gene

ENSMUSG00000036745

Gene Name

tubulin tyrosine ligase-like family, member 7

Synonyms

1110049N09Rik, 4921517B04Rik

MMRRC Submission

043257-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.524) question?

Stock #

R6036 (G1)

Quality Score

224.009

Status

Not validated

Chromosome

Chromosomal Location

146852367-146984009 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146940162 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 592 (I592V)

Ref Sequence

ENSEMBL: ENSMUSP00000129369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037942] [ENSMUST00000106134] [ENSMUST00000170055]

Predicted Effect

probably benign
Transcript: ENSMUST00000037942
AA Change: I592V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000038090

SMART Domains

Protein: ENSMUSP00000037875
Gene: ENSMUSG00000036745

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
Pfam:TTL	84	388	9e-80	PFAM
low complexity region	417	439	N/A	INTRINSIC
low complexity region	501	516	N/A	INTRINSIC
low complexity region	549	563	N/A	INTRINSIC
low complexity region	591	601	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106134
AA Change: I592V

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

SMART Domains

Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: I592V

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
Pfam:TTL	84	388	7.2e-80	PFAM
low complexity region	417	439	N/A	INTRINSIC
low complexity region	501	516	N/A	INTRINSIC
low complexity region	549	563	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170055
AA Change: I592V

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

SMART Domains

Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: I592V

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
Pfam:TTL	84	388	5.9e-80	PFAM
low complexity region	417	439	N/A	INTRINSIC
low complexity region	501	516	N/A	INTRINSIC
low complexity region	549	563	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197547

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.6%
20x: 72.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,832,858		probably benign	Het
Ago1	C	T	4: 126,443,228	R228H	probably damaging	Het
Alpk3	G	A	7: 81,093,257	V941M	probably benign	Het
Ano4	A	G	10: 88,982,265	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 44,098,831	Y464H	probably benign	Het
Barx2	A	T	9: 31,913,008	D28E	probably damaging	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Col10a1	A	G	10: 34,395,282	T417A	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,239,420	S227P	probably damaging	Het
Erv3	G	A	2: 131,856,005	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,014,322	T591A	possibly damaging	Het
F5	A	T	1: 164,184,996	E493V	probably damaging	Het
Gm8444	G	T	15: 81,843,593		probably benign	Het
Gria4	T	A	9: 4,537,646	I221L	probably benign	Het
Hc	T	C	2: 35,039,684	T249A	probably benign	Het
Herc2	A	G	7: 56,068,053	T48A	probably benign	Het
Hist1h2bl	A	T	13: 21,715,978	S56T	probably damaging	Het
Hp	A	G	8: 109,576,774		probably null	Het
Ifna15	T	G	4: 88,558,073	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,397,125	M262L	probably benign	Het
Krt83	A	C	15: 101,487,531	I320S	possibly damaging	Het
Megf10	A	G	18: 57,242,727	N242D	probably damaging	Het
Nup155	A	G	15: 8,128,411	T451A	probably benign	Het
Olfr1277	C	T	2: 111,269,612	G252R	probably damaging	Het
Olfr1288	T	C	2: 111,478,988	L68P	probably damaging	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr701	A	T	7: 106,818,460	I126F	probably damaging	Het
Olfr930	A	G	9: 38,930,920	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,305,209	P403S	probably damaging	Het
Piezo2	G	A	18: 63,114,948	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618	E191G	possibly damaging	Het
Pou4f2	A	T	8: 78,435,474	S167T	probably damaging	Het
Scd4	G	A	19: 44,344,792	D319N	probably damaging	Het
Senp2	A	T	16: 22,028,558	R279*	probably null	Het
Sh3rf3	G	A	10: 58,813,984	G137D	probably benign	Het
Simc1	C	T	13: 54,524,621	P261S	probably benign	Het
Slc26a1	T	A	5: 108,673,570	D151V	probably damaging	Het
Snx29	A	G	16: 11,738,437		probably null	Het
Stard9	C	T	2: 120,700,075	A2271V	probably benign	Het
Stat6	A	G	10: 127,655,444	N485D	possibly damaging	Het
Tpcn2	T	C	7: 145,268,869	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,711,366	I378V	possibly damaging	Het
Ttc29	A	G	8: 78,325,576	D362G	probably benign	Het
Ugt3a1	A	T	15: 9,306,086	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,633,903	Q87R	probably damaging	Het
Wdfy4	G	T	14: 33,146,990	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,963,568	Y521H	probably damaging	Het

Other mutations in Ttll7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Ttll7	APN	3	146909582	missense	possibly damaging	0.72
IGL01353:Ttll7	APN	3	146961719	missense	probably damaging	1.00
IGL01415:Ttll7	APN	3	146909599	missense	possibly damaging	0.90
IGL01843:Ttll7	APN	3	146940021	missense	possibly damaging	0.93
IGL03101:Ttll7	APN	3	146896690	missense	possibly damaging	0.82
IGL03378:Ttll7	APN	3	146909653	missense	probably benign	0.06
P0038:Ttll7	UTSW	3	146945184	missense	possibly damaging	0.80
R0265:Ttll7	UTSW	3	146944160	nonsense	probably null
R0358:Ttll7	UTSW	3	146944116	missense	probably benign
R0363:Ttll7	UTSW	3	146944215	missense	probably benign	0.00
R0364:Ttll7	UTSW	3	146945181	missense	possibly damaging	0.82
R0751:Ttll7	UTSW	3	146939991	missense	probably damaging	1.00
R1184:Ttll7	UTSW	3	146939991	missense	probably damaging	1.00
R1533:Ttll7	UTSW	3	146896667	missense	probably damaging	1.00
R1771:Ttll7	UTSW	3	146894405	missense	probably benign	0.02
R1789:Ttll7	UTSW	3	146915780	missense	probably damaging	1.00
R1961:Ttll7	UTSW	3	146915795	splice site	probably benign
R1995:Ttll7	UTSW	3	146961755	missense	possibly damaging	0.95
R2083:Ttll7	UTSW	3	146930104	missense	possibly damaging	0.77
R2152:Ttll7	UTSW	3	146930189	missense	probably damaging	1.00
R2655:Ttll7	UTSW	3	146947621	missense	probably damaging	1.00
R2926:Ttll7	UTSW	3	146930415	nonsense	probably null
R4888:Ttll7	UTSW	3	146894177	start codon destroyed	probably null	0.99
R4999:Ttll7	UTSW	3	146894469	missense	probably damaging	1.00
R5648:Ttll7	UTSW	3	146961710	missense	probably damaging	1.00
R5937:Ttll7	UTSW	3	146944092	nonsense	probably null
R6009:Ttll7	UTSW	3	146934535	missense	probably damaging	0.99
R6036:Ttll7	UTSW	3	146940162	missense	probably benign
R6463:Ttll7	UTSW	3	146931582	missense	possibly damaging	0.86
R6747:Ttll7	UTSW	3	146944056	missense	probably benign	0.02
R6922:Ttll7	UTSW	3	146909614	missense	possibly damaging	0.92
R7123:Ttll7	UTSW	3	146913296	missense	possibly damaging	0.95
R7211:Ttll7	UTSW	3	146913276	missense	probably damaging	0.97
R8229:Ttll7	UTSW	3	146901449	missense	probably damaging	0.99
R8406:Ttll7	UTSW	3	146940024	missense	probably benign
RF015:Ttll7	UTSW	3	146979658	missense	probably benign	0.00
X0024:Ttll7	UTSW	3	146909553	missense	probably damaging	1.00
X0026:Ttll7	UTSW	3	146961695	missense	probably damaging	1.00
X0027:Ttll7	UTSW	3	146947653	missense	probably damaging	1.00
Z1176:Ttll7	UTSW	3	146915771	missense	probably damaging	1.00
Z1176:Ttll7	UTSW	3	146930178	missense	probably benign	0.01
Z1176:Ttll7	UTSW	3	146947635	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26