Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03412:Ttll4'

421847

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll4

Ensembl Gene

ENSMUSG00000033257

Gene Name

tubulin tyrosine ligase-like family, member 4

Synonyms

4632407P03Rik

Accession Numbers

Genbank: NM_001014974.1; Ensembl: ENSMUST00000042125

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL03412

Quality Score

Status

Chromosome

Chromosomal Location

74661745-74703730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74687321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 693 (I693V)

Ref Sequence

ENSEMBL: ENSMUSP00000037406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042125] [ENSMUST00000113678] [ENSMUST00000141119]

AlphaFold

Q80UG8

Predicted Effect

probably benign
Transcript: ENSMUST00000042125
AA Change: I693V

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: I693V

Domain	Start	End	E-Value	Type
low complexity region	504	544	N/A	INTRINSIC
Pfam:TTL	645	940	2.2e-106	PFAM
low complexity region	942	961	N/A	INTRINSIC
low complexity region	1103	1113	N/A	INTRINSIC
low complexity region	1168	1182	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113678

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257

Domain	Start	End	E-Value	Type
low complexity region	504	544	N/A	INTRINSIC
Pfam:TTL	636	876	3.4e-82	PFAM
low complexity region	878	897	N/A	INTRINSIC
low complexity region	1039	1049	N/A	INTRINSIC
low complexity region	1104	1118	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140591

Predicted Effect

probably benign
Transcript: ENSMUST00000141119

SMART Domains

Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257

Domain	Start	End	E-Value	Type
low complexity region	56	96	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155753

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(20) : Targeted, other(2) Gene trapped(18)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,491,770	R736*	probably null	Het
Agpat2	T	C	2: 26,593,661	T255A	probably benign	Het
Akap3	G	A	6: 126,864,725	M102I	probably benign	Het
Cd300lb	C	A	11: 114,928,380	R5M	probably damaging	Het
Chrna5	A	T	9: 55,004,435	D69V	probably damaging	Het
Col9a1	G	A	1: 24,210,427		probably null	Het
Dnajb12	A	T	10: 59,890,073	H60L	probably benign	Het
Dnal1	T	A	12: 84,135,667	M1K	probably null	Het
Exoc7	C	T	11: 116,289,275	V655M	possibly damaging	Het
Fastkd3	A	G	13: 68,583,721	R54G	probably benign	Het
Fbln2	G	A	6: 91,271,781	D1143N	probably damaging	Het
Flii	C	T	11: 60,722,640	V174M	probably damaging	Het
Gtf2h4	T	C	17: 35,668,483	I388M	probably damaging	Het
Il20rb	A	G	9: 100,474,996	V27A	probably benign	Het
Kidins220	T	C	12: 24,999,345	S320P	probably damaging	Het
Kif1b	T	C	4: 149,274,939	S114G	probably benign	Het
Lama3	T	C	18: 12,419,182	V397A	probably damaging	Het
Man2a2	A	T	7: 80,366,998	V356D	probably damaging	Het
Mcpt9	T	G	14: 56,028,027	T72P	probably damaging	Het
Mmd	T	C	11: 90,257,603		probably null	Het
Mroh2b	G	A	15: 4,944,372	R1124Q	probably benign	Het
Mvp	T	C	7: 126,993,563	D392G	probably damaging	Het
Mycbpap	T	A	11: 94,508,101		probably null	Het
Myh2	A	G	11: 67,189,569	H1203R	probably benign	Het
Nbeal1	T	A	1: 60,242,567	C816*	probably null	Het
Olfr1242	T	A	2: 89,494,211	I34F	probably benign	Het
Olfr1440	A	T	19: 12,394,379	T39S	probably damaging	Het
Pcdh12	C	T	18: 38,283,515	V186M	probably benign	Het
Pik3c2a	C	T	7: 116,417,839	E228K	probably benign	Het
Plcz1	A	C	6: 140,016,097	Y243D	probably damaging	Het
Rspo3	T	A	10: 29,535,274	I19F	possibly damaging	Het
Slc2a12	T	C	10: 22,664,969	L241P	probably damaging	Het
Slc4a10	G	A	2: 62,250,543		probably benign	Het
Snai2	A	T	16: 14,707,256	T209S	possibly damaging	Het
Sorcs2	T	C	5: 36,046,504	D549G	probably damaging	Het
Srsf12	G	A	4: 33,230,929	R141Q	probably damaging	Het
Stab1	T	G	14: 31,154,407	E908D	probably benign	Het
Stat6	A	T	10: 127,658,205	M634L	probably benign	Het
Tex21	A	G	12: 76,245,006		probably null	Het
Tsc2	C	A	17: 24,597,068	R1715L	probably damaging	Het
Vmn1r5	A	T	6: 56,985,933	M198L	possibly damaging	Het
Vmn1r50	T	C	6: 90,108,025	Y251H	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438	I651T	probably benign	Het
Wdr3	G	T	3: 100,151,977	T342K	probably benign	Het
Zbtb44	A	G	9: 31,053,467	T58A	probably benign	Het
Zeb2	A	G	2: 45,002,708		probably benign	Het
Zmym2	C	T	14: 56,959,719	Q1315*	probably null	Het
Zmym6	T	C	4: 127,092,938	I137T	probably damaging	Het

Other mutations in Ttll4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Ttll4	APN	1	74685893	missense	probably damaging	1.00
IGL01743:Ttll4	APN	1	74688193	missense	possibly damaging	0.63
IGL01914:Ttll4	APN	1	74679058	missense	probably benign	0.01
IGL02288:Ttll4	APN	1	74679401	missense	probably benign	0.05
IGL02621:Ttll4	APN	1	74687484	missense	probably damaging	1.00
IGL02662:Ttll4	APN	1	74687231	splice site	probably null
IGL02890:Ttll4	APN	1	74687339	nonsense	probably null
IGL02937:Ttll4	APN	1	74679503	missense	possibly damaging	0.92
IGL03178:Ttll4	APN	1	74680408	missense	probably damaging	0.96
1mM(1):Ttll4	UTSW	1	74689980	missense	probably null	1.00
R0083:Ttll4	UTSW	1	74679769	missense	probably benign	0.13
R0108:Ttll4	UTSW	1	74679769	missense	probably benign	0.13
R0135:Ttll4	UTSW	1	74679928	missense	possibly damaging	0.86
R0137:Ttll4	UTSW	1	74679692	missense	possibly damaging	0.74
R0306:Ttll4	UTSW	1	74696757	missense	probably benign	0.28
R0506:Ttll4	UTSW	1	74688618	missense	probably benign	0.06
R0555:Ttll4	UTSW	1	74688280	missense	probably damaging	1.00
R1617:Ttll4	UTSW	1	74679401	missense	probably benign	0.05
R1649:Ttll4	UTSW	1	74697470	missense	possibly damaging	0.52
R1793:Ttll4	UTSW	1	74687840	missense	possibly damaging	0.91
R1898:Ttll4	UTSW	1	74697482	missense	probably benign	0.01
R1952:Ttll4	UTSW	1	74687559	missense	probably damaging	0.99
R1987:Ttll4	UTSW	1	74685368	missense	possibly damaging	0.81
R1989:Ttll4	UTSW	1	74685368	missense	possibly damaging	0.81
R2067:Ttll4	UTSW	1	74680382	missense	possibly damaging	0.94
R2162:Ttll4	UTSW	1	74686391	missense	probably damaging	1.00
R2185:Ttll4	UTSW	1	74679829	missense	possibly damaging	0.54
R2875:Ttll4	UTSW	1	74686438	splice site	probably null
R2876:Ttll4	UTSW	1	74686438	splice site	probably null
R2895:Ttll4	UTSW	1	74685358	missense	possibly damaging	0.92
R2896:Ttll4	UTSW	1	74685358	missense	possibly damaging	0.92
R3157:Ttll4	UTSW	1	74697611	missense	possibly damaging	0.81
R3832:Ttll4	UTSW	1	74686391	missense	probably damaging	1.00
R4707:Ttll4	UTSW	1	74679007	missense	possibly damaging	0.62
R4784:Ttll4	UTSW	1	74679007	missense	possibly damaging	0.62
R4785:Ttll4	UTSW	1	74679007	missense	possibly damaging	0.62
R5176:Ttll4	UTSW	1	74679286	missense	probably damaging	0.99
R5202:Ttll4	UTSW	1	74687852	critical splice donor site	probably null
R5244:Ttll4	UTSW	1	74696448	missense	probably benign	0.30
R5264:Ttll4	UTSW	1	74686376	missense	possibly damaging	0.92
R5452:Ttll4	UTSW	1	74679321	missense	probably benign	0.06
R5992:Ttll4	UTSW	1	74685391	missense	probably damaging	1.00
R6111:Ttll4	UTSW	1	74697539	missense	possibly damaging	0.95
R6722:Ttll4	UTSW	1	74681789	missense	possibly damaging	0.95
R6776:Ttll4	UTSW	1	74681353	missense	probably damaging	1.00
R6815:Ttll4	UTSW	1	74679349	missense	possibly damaging	0.89
R6836:Ttll4	UTSW	1	74689413	missense	probably damaging	0.98
R6963:Ttll4	UTSW	1	74681816	missense	probably damaging	1.00
R7271:Ttll4	UTSW	1	74688661	missense	possibly damaging	0.83
R7508:Ttll4	UTSW	1	74687259	missense	possibly damaging	0.81
R7714:Ttll4	UTSW	1	74679413	missense	probably benign	0.00
R7837:Ttll4	UTSW	1	74681757	critical splice acceptor site	probably null
R8032:Ttll4	UTSW	1	74696473	missense	possibly damaging	0.82
R8036:Ttll4	UTSW	1	74679230	missense	probably benign	0.02
R8115:Ttll4	UTSW	1	74687330	nonsense	probably null
R8949:Ttll4	UTSW	1	74681816	missense	probably damaging	0.99
R9145:Ttll4	UTSW	1	74679790	missense	probably benign	0.02
R9156:Ttll4	UTSW	1	74680066	missense	probably benign	0.00
R9329:Ttll4	UTSW	1	74685962	missense	possibly damaging	0.85

Posted On

2016-08-02