Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01843:Ttll7'

178106

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: 0.377) question?

Stock #

IGL01843

Quality Score

Status

Chromosome

Chromosomal Location

146852367-146984009 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 146940021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 545 (K545Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043753 (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: K545Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

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: K545Q

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: K545Q

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: K545Q

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: K545Q

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,553,338		probably benign	Het
Ap1b1	T	C	11: 5,039,169	L782P	probably damaging	Het
Arid1a	T	C	4: 133,681,454	D1914G	unknown	Het
C8a	G	A	4: 104,862,611	Q57*	probably null	Het
Cachd1	T	C	4: 100,992,872	S1144P	probably damaging	Het
Cdh23	A	T	10: 60,419,819		probably null	Het
Cenpe	A	G	3: 135,218,507	Q198R	possibly damaging	Het
Cpne8	T	C	15: 90,569,497	I228V	probably benign	Het
Cr2	A	T	1: 195,150,914		probably benign	Het
Csmd3	T	C	15: 47,658,999		probably benign	Het
Cyp2c23	A	G	19: 44,005,607	V440A	probably benign	Het
Dag1	T	C	9: 108,208,082	D620G	possibly damaging	Het
Dmxl1	T	A	18: 49,878,382	L1202*	probably null	Het
Dnah3	T	G	7: 119,943,575	H3538P	probably benign	Het
Dock8	A	T	19: 25,089,928	Q312L	probably benign	Het
E2f7	T	G	10: 110,774,735	V407G	probably benign	Het
F13b	T	C	1: 139,516,427	S500P	probably damaging	Het
F5	A	G	1: 164,211,826	I2002V	probably benign	Het
Flywch1	T	A	17: 23,760,345	M439L	possibly damaging	Het
Gcn1l1	C	A	5: 115,619,700	A2488E	probably damaging	Het
Gria1	T	C	11: 57,317,774	S832P	probably damaging	Het
Hnrnpr	T	C	4: 136,339,413		probably benign	Het
Hps3	A	G	3: 20,029,001	I177T	probably benign	Het
Irgm2	G	A	11: 58,220,341	G298D	probably benign	Het
Kcnk7	G	A	19: 5,706,202	G152D	probably damaging	Het
Man2a2	T	C	7: 80,362,906	T620A	probably benign	Het
Mapk12	A	G	15: 89,137,466		probably benign	Het
Mapk6	T	C	9: 75,390,290	Y315C	probably damaging	Het
Mdga2	T	A	12: 66,723,131		probably null	Het
Met	T	A	6: 17,491,701	I154N	probably damaging	Het
Nap1l1	A	G	10: 111,492,911	R234G	possibly damaging	Het
Olfm5	C	A	7: 104,160,744	V137F	possibly damaging	Het
Olfr1423	G	T	19: 12,036,677	H22N	probably benign	Het
Pcdha11	C	T	18: 37,012,833	T659I	probably benign	Het
Pfkm	T	C	15: 98,129,306	V620A	possibly damaging	Het
Rbak	A	G	5: 143,176,600		probably benign	Het
Rbl2	A	G	8: 91,090,216	I401M	probably benign	Het
Rragc	T	C	4: 123,921,059	S183P	probably damaging	Het
Sept3	A	G	15: 82,279,613		probably benign	Het
Skiv2l2	T	C	13: 112,918,561		probably benign	Het
Slc22a6	A	T	19: 8,626,214		probably benign	Het
Spag4	A	T	2: 156,068,497	T348S	probably benign	Het
Sptbn1	T	C	11: 30,104,623	R2157G	probably benign	Het
Tmem168	G	A	6: 13,582,941	T263M	probably damaging	Het
Tnik	T	A	3: 28,570,858		probably null	Het
Tnpo2	T	A	8: 85,050,508	V549E	probably damaging	Het
Tubgcp5	T	G	7: 55,799,473	D139E	probably benign	Het
Vmn1r233	T	A	17: 20,994,599	N30Y	probably damaging	Het
Vmn2r25	T	G	6: 123,853,003	D63A	possibly damaging	Het
Vmn2r79	T	A	7: 87,037,277	L622Q	probably damaging	Het
Vmn2r84	T	C	10: 130,386,279	M691V	probably benign	Het
Zc3hc1	A	T	6: 30,372,730		probably benign	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
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
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

2014-05-07