Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03378:Ttll7'

420574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll7

Ensembl Gene

ENSMUSG00000036745

Gene Name

tubulin tyrosine ligase-like family, member 7

Synonyms

1110049N09Rik, 4921517B04Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.467) question?

Stock #

IGL03378

Quality Score

Status

Chromosome

Chromosomal Location

146852367-146984009 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146909653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 291 (F291L)

Ref Sequence

ENSEMBL: ENSMUSP00000043753 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037942
AA Change: F291L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

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: F291L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: F291L

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: F291L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: F291L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	A	15: 34,355,632	I261N	probably benign	Het
Bace1	T	A	9: 45,858,901		probably null	Het
Caprin2	G	T	6: 148,877,854	Q152K	probably benign	Het
Cdh16	C	T	8: 104,619,285	D285N	probably benign	Het
Cnnm2	G	A	19: 46,878,034	A874T	possibly damaging	Het
Dhx38	A	T	8: 109,559,090		probably null	Het
Dnhd1	A	C	7: 105,713,733	E3834A	possibly damaging	Het
Erc2	A	C	14: 28,011,723	S585R	probably damaging	Het
Gli3	A	G	13: 15,644,420	E269G	probably damaging	Het
Gpr161	T	C	1: 165,310,508	L204P	probably damaging	Het
Hp	A	G	8: 109,575,707	V203A	probably damaging	Het
Krtap6-5	A	T	16: 89,047,789	C19S	unknown	Het
Lce1i	A	T	3: 92,777,726	S48T	unknown	Het
Lrp2	A	T	2: 69,431,152	S4482T	probably damaging	Het
Mpdz	A	T	4: 81,419,048		probably benign	Het
Olfr1049	T	A	2: 86,255,019	I225L	possibly damaging	Het
Olfr1186	T	A	2: 88,526,154	Y190*	probably null	Het
Olfr357	T	C	2: 36,996,903	F31S	probably damaging	Het
Papola	G	T	12: 105,809,433		probably null	Het
Prss23	T	C	7: 89,510,144	D239G	probably damaging	Het
Setd2	A	G	9: 110,553,152	T83A	unknown	Het
Sh3pxd2b	T	G	11: 32,381,443	L56V	probably damaging	Het
Ski	A	G	4: 155,160,872	S300P	probably benign	Het
Srebf2	T	C	15: 82,169,788	S17P	probably damaging	Het
Svs5	C	A	2: 164,333,340	H37Q	probably benign	Het
Tbx21	A	G	11: 97,114,741	S133P	probably benign	Het
Tgfbr3	G	T	5: 107,109,702	S830R	probably damaging	Het
Thsd1	A	T	8: 22,243,778	K280N	probably benign	Het
Tnfrsf13c	T	A	15: 82,224,312	M1L	probably benign	Het
Ttn	A	G	2: 76,769,563	V10762A	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
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
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
R9343:Ttll7	UTSW	3	146961742	missense	probably damaging	1.00
R9348:Ttll7	UTSW	3	146968013	missense	probably benign	0.31
R9629:Ttll7	UTSW	3	146915732	missense	probably damaging	1.00
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

Posted On

2016-08-02