Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01743:Ttll4'

152900

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

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

IGL01743

Quality Score

Status

Chromosome

Chromosomal Location

74661745-74703730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74688193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 798 (N798S)

Ref Sequence

ENSEMBL: ENSMUSP00000037406 (fasta)

Gene Model

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

AlphaFold

Q80UG8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042125
AA Change: N798S

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: N798S

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

unknown
Transcript: ENSMUST00000113678
AA Change: N734S

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: N734S

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	G	T	8: 3,364,697	C25F	probably benign	Het
Abcc6	A	T	7: 45,996,814	N750K	probably benign	Het
Ackr2	T	C	9: 121,909,500	C314R	probably benign	Het
Adar	C	T	3: 89,745,440	Q210*	probably null	Het
Aifm1	A	G	X: 48,480,276		probably benign	Het
Aldoa	G	T	7: 126,796,703	D198E	probably damaging	Het
Ampd1	T	A	3: 103,094,885		probably benign	Het
Btnl1	T	C	17: 34,385,685	I480T	probably damaging	Het
Capn9	T	C	8: 124,591,769	S125P	probably benign	Het
Cd40lg	T	A	X: 57,212,232	Y26*	probably null	Het
Cdc42bpg	G	T	19: 6,309,823		probably null	Het
Cdh10	T	C	15: 18,986,769	L362P	probably benign	Het
Dhx16	A	G	17: 35,888,108	D782G	probably damaging	Het
Dnajb14	G	T	3: 137,906,000	V320L	possibly damaging	Het
Dpy19l1	C	T	9: 24,485,069	R117Q	probably damaging	Het
Ercc6	T	C	14: 32,552,604	V568A	probably damaging	Het
Faf2	T	C	13: 54,641,498		probably null	Het
Fbrsl1	C	T	5: 110,381,640	V223M	probably damaging	Het
Fcrl5	T	C	3: 87,444,291	V282A	probably damaging	Het
Fxr2	C	T	11: 69,652,622	L650F	possibly damaging	Het
Gabrq	A	G	X: 72,836,842	M314V	probably benign	Het
Gnas	T	A	2: 174,298,332	Y157*	probably null	Het
Gtf2i	T	C	5: 134,286,893	E175G	probably damaging	Het
Gtf3c1	A	C	7: 125,663,415	Y1091D	probably damaging	Het
Heatr5b	G	A	17: 78,824,640	Q345*	probably null	Het
Hydin	T	C	8: 110,592,776	V4437A	possibly damaging	Het
Idi2	T	A	13: 8,958,542	L112Q	probably damaging	Het
Ift80	C	T	3: 68,962,296	V221M	probably benign	Het
Il16	A	G	7: 83,652,299	F205S	probably benign	Het
Irf1	T	A	11: 53,774,451	M218K	probably benign	Het
Itga8	T	C	2: 12,265,333	N114S	probably benign	Het
Itgae	T	C	11: 73,111,759	V114A	probably benign	Het
Klhdc10	A	G	6: 30,441,934		probably null	Het
Krt78	C	A	15: 101,950,898	R288L	probably benign	Het
Lars2	A	T	9: 123,453,248	L632F	probably damaging	Het
Mpdz	T	C	4: 81,317,682	D1220G	probably damaging	Het
Msl1	C	T	11: 98,805,419	T597I	probably damaging	Het
Mtor	T	C	4: 148,530,613		probably benign	Het
Myo1b	T	C	1: 51,782,020	T435A	probably damaging	Het
Neb	A	G	2: 52,225,667	Y4176H	probably damaging	Het
Nxpe3	A	G	16: 55,849,765	F326L	probably benign	Het
Olfr532	T	C	7: 140,419,668	Y35C	probably damaging	Het
Olfr705	A	G	7: 106,714,334	S116P	possibly damaging	Het
Pak7	T	A	2: 136,087,413	R617W	probably damaging	Het
Peak1	C	A	9: 56,259,202	V481L	probably damaging	Het
Pik3ap1	G	A	19: 41,292,828		probably benign	Het
Pmm1	C	T	15: 81,960,786	E6K	probably benign	Het
Ppp2r5c	G	A	12: 110,580,434	V454M	probably benign	Het
Ptprf	C	T	4: 118,248,898		probably null	Het
Pygm	G	A	19: 6,392,994		probably null	Het
Rimbp2	T	A	5: 128,797,848		probably benign	Het
Rps6ka5	A	T	12: 100,575,633		probably null	Het
Scarb2	A	G	5: 92,460,803	V188A	probably benign	Het
Sfrp1	T	A	8: 23,412,338		probably benign	Het
Siglec15	T	A	18: 78,043,605		probably benign	Het
Smgc	A	G	15: 91,854,593	I485V	probably benign	Het
Tas2r124	A	G	6: 132,754,835	I36V	probably benign	Het
Trmt10b	G	T	4: 45,305,879	G185W	probably damaging	Het
Ttn	G	T	2: 76,789,552	T15924N	probably damaging	Het
Utrn	A	T	10: 12,711,557	Y912N	possibly damaging	Het
Vmn2r113	T	C	17: 22,958,311	Y690H	probably benign	Het
Vmn2r51	T	C	7: 10,100,227	R295G	probably damaging	Het
Vpreb3	A	G	10: 75,948,397	T14A	probably benign	Het

Other mutations in Ttll4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Ttll4	APN	1	74685893	missense	probably damaging	1.00
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
IGL03412:Ttll4	APN	1	74687321	missense	probably benign	0.28
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
R9701:Ttll4	UTSW	1	74681323	missense	probably benign	0.07
R9802:Ttll4	UTSW	1	74681323	missense	probably benign	0.07

Posted On

2014-02-04