Mutagenetix > Incidental Mutation

Incidental Mutation 'P0038:Ttll7'

7795

Institutional Source

Beutler Lab

Gene Symbol

Ttll7

Ensembl Gene

ENSMUSG00000036745

Gene Name

tubulin tyrosine ligase-like family, member 7

Synonyms

1110049N09Rik, 4921517B04Rik

MMRRC Submission

038287-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

P0038 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

146558122-146689764 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146650939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 700 (F700L)

Ref Sequence

ENSEMBL: ENSMUSP00000129369 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037942
AA Change: F720L

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

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

possibly damaging
Transcript: ENSMUST00000106134
AA Change: F695L

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: F695L

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

possibly damaging
Transcript: ENSMUST00000170055
AA Change: F700L

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: F700L

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

Meta Mutation Damage Score

0.1411

Coding Region Coverage

1x: 79.6%
3x: 69.7%
10x: 40.2%
20x: 18.1%

Validation Efficiency

86% (80/93)

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2b	C	A	12: 5,004,536 (GRCm39)		probably benign	Het
Atmin	T	A	8: 117,683,775 (GRCm39)	C478*	probably null	Het
Cdh13	G	A	8: 119,401,843 (GRCm39)	V82M	probably damaging	Het
Dip2c	A	C	13: 9,697,018 (GRCm39)	T1310P	probably damaging	Het
Eral1	A	T	11: 77,966,847 (GRCm39)	D189E	probably damaging	Het
Fstl5	A	G	3: 76,052,369 (GRCm39)	Y33C	probably damaging	Het
Gjb4	A	T	4: 127,245,293 (GRCm39)	V216D	probably benign	Het
Lars2	T	C	9: 123,206,842 (GRCm39)	V103A	probably damaging	Het
Mfsd12	C	T	10: 81,198,052 (GRCm39)	T311I	probably benign	Het
Mtrex	A	C	13: 113,047,513 (GRCm39)	Y277*	probably null	Het
Paf1	T	C	7: 28,096,350 (GRCm39)		probably null	Het
Rfc1	T	C	5: 65,445,304 (GRCm39)	T435A	probably damaging	Het
Siglec1	T	C	2: 130,923,359 (GRCm39)	N462S	probably benign	Het
Tnks1bp1	C	T	2: 84,892,755 (GRCm39)	T232I	probably benign	Het
Trpc6	A	T	9: 8,649,512 (GRCm39)	N574I	possibly damaging	Het
Zc3hav1	G	A	6: 38,309,469 (GRCm39)	T451M	probably damaging	Het

Other mutations in Ttll7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Ttll7	APN	3	146,615,337 (GRCm39)	missense	possibly damaging	0.72
IGL01353:Ttll7	APN	3	146,667,474 (GRCm39)	missense	probably damaging	1.00
IGL01415:Ttll7	APN	3	146,615,354 (GRCm39)	missense	possibly damaging	0.90
IGL01843:Ttll7	APN	3	146,645,776 (GRCm39)	missense	possibly damaging	0.93
IGL03101:Ttll7	APN	3	146,602,445 (GRCm39)	missense	possibly damaging	0.82
IGL03378:Ttll7	APN	3	146,615,408 (GRCm39)	missense	probably benign	0.06
R0265:Ttll7	UTSW	3	146,649,915 (GRCm39)	nonsense	probably null
R0358:Ttll7	UTSW	3	146,649,871 (GRCm39)	missense	probably benign
R0363:Ttll7	UTSW	3	146,649,970 (GRCm39)	missense	probably benign	0.00
R0364:Ttll7	UTSW	3	146,650,936 (GRCm39)	missense	possibly damaging	0.82
R0751:Ttll7	UTSW	3	146,645,746 (GRCm39)	missense	probably damaging	1.00
R1184:Ttll7	UTSW	3	146,645,746 (GRCm39)	missense	probably damaging	1.00
R1533:Ttll7	UTSW	3	146,602,422 (GRCm39)	missense	probably damaging	1.00
R1771:Ttll7	UTSW	3	146,600,160 (GRCm39)	missense	probably benign	0.02
R1789:Ttll7	UTSW	3	146,621,535 (GRCm39)	missense	probably damaging	1.00
R1961:Ttll7	UTSW	3	146,621,550 (GRCm39)	splice site	probably benign
R1995:Ttll7	UTSW	3	146,667,510 (GRCm39)	missense	possibly damaging	0.95
R2083:Ttll7	UTSW	3	146,635,859 (GRCm39)	missense	possibly damaging	0.77
R2152:Ttll7	UTSW	3	146,635,944 (GRCm39)	missense	probably damaging	1.00
R2655:Ttll7	UTSW	3	146,653,376 (GRCm39)	missense	probably damaging	1.00
R2926:Ttll7	UTSW	3	146,636,170 (GRCm39)	nonsense	probably null
R4888:Ttll7	UTSW	3	146,599,932 (GRCm39)	start codon destroyed	probably null	0.99
R4999:Ttll7	UTSW	3	146,600,224 (GRCm39)	missense	probably damaging	1.00
R5648:Ttll7	UTSW	3	146,667,465 (GRCm39)	missense	probably damaging	1.00
R5937:Ttll7	UTSW	3	146,649,847 (GRCm39)	nonsense	probably null
R6009:Ttll7	UTSW	3	146,640,290 (GRCm39)	missense	probably damaging	0.99
R6036:Ttll7	UTSW	3	146,645,917 (GRCm39)	missense	probably benign
R6036:Ttll7	UTSW	3	146,645,917 (GRCm39)	missense	probably benign
R6463:Ttll7	UTSW	3	146,637,337 (GRCm39)	missense	possibly damaging	0.86
R6747:Ttll7	UTSW	3	146,649,811 (GRCm39)	missense	probably benign	0.02
R6922:Ttll7	UTSW	3	146,615,369 (GRCm39)	missense	possibly damaging	0.92
R7123:Ttll7	UTSW	3	146,619,051 (GRCm39)	missense	possibly damaging	0.95
R7211:Ttll7	UTSW	3	146,619,031 (GRCm39)	missense	probably damaging	0.97
R8229:Ttll7	UTSW	3	146,607,204 (GRCm39)	missense	probably damaging	0.99
R8406:Ttll7	UTSW	3	146,645,779 (GRCm39)	missense	probably benign
R9343:Ttll7	UTSW	3	146,667,497 (GRCm39)	missense	probably damaging	1.00
R9348:Ttll7	UTSW	3	146,673,768 (GRCm39)	missense	probably benign	0.31
R9629:Ttll7	UTSW	3	146,621,487 (GRCm39)	missense	probably damaging	1.00
RF015:Ttll7	UTSW	3	146,685,413 (GRCm39)	missense	probably benign	0.00
X0024:Ttll7	UTSW	3	146,615,308 (GRCm39)	missense	probably damaging	1.00
X0026:Ttll7	UTSW	3	146,667,450 (GRCm39)	missense	probably damaging	1.00
X0027:Ttll7	UTSW	3	146,653,408 (GRCm39)	missense	probably damaging	1.00
Z1176:Ttll7	UTSW	3	146,653,390 (GRCm39)	missense	probably damaging	1.00
Z1176:Ttll7	UTSW	3	146,635,933 (GRCm39)	missense	probably benign	0.01
Z1176:Ttll7	UTSW	3	146,621,526 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-10-29