Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01338:Ttll3'

74700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll3

Ensembl Gene

ENSMUSG00000030276

Gene Name

tubulin tyrosine ligase-like family, member 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01338

Quality Score

Status

Chromosome

Chromosomal Location

113389260-113414587 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 113394729 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 19 (V19G)

Ref Sequence

ENSEMBL: ENSMUSP00000145044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032414] [ENSMUST00000038889] [ENSMUST00000156898] [ENSMUST00000204026] [ENSMUST00000205017]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032414
AA Change: V177G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: V177G

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	214	231	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
Pfam:TTL	404	698	7.7e-84	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000038889
AA Change: V177G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: V177G

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	214	231	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
Pfam:TTL	404	699	9e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156898

SMART Domains

Protein: ENSMUSP00000114839
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	167	8.3e-88	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000203524
AA Change: V24G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203925

Predicted Effect

probably damaging
Transcript: ENSMUST00000204026
AA Change: V29G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145049
Gene: ENSMUSG00000030276
AA Change: V29G

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	86	100	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204683

Predicted Effect

probably damaging
Transcript: ENSMUST00000205017
AA Change: V19G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduced number of primary cilia in colon epithelia accompanied by an increased rate of cell division which is compensated by faster tissue turnover in the colon. Mice exhibit increased incidence of colon tumors by chemical induction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,926,048	N266S	possibly damaging	Het
Adam23	A	G	1: 63,551,855	T494A	possibly damaging	Het
Adamts16	C	T	13: 70,836,115	C143Y	probably damaging	Het
Cacna1i	A	G	15: 80,348,380	I195V	probably damaging	Het
Casp7	T	C	19: 56,404,464	S17P	probably benign	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpvl	T	A	6: 53,974,655	S48C	possibly damaging	Het
Cyp2b19	G	T	7: 26,759,417	M138I	probably benign	Het
Dennd5a	T	C	7: 109,919,404	Y510C	possibly damaging	Het
Derl2	A	G	11: 71,010,355	F229S	possibly damaging	Het
Dlec1	A	G	9: 119,120,911	E452G	probably damaging	Het
Dsc2	T	C	18: 20,047,157	K180E	probably benign	Het
Dus1l	G	A	11: 120,793,092	R177C	possibly damaging	Het
Egfr	A	G	11: 16,863,020	I167V	probably damaging	Het
Fam219b	A	T	9: 57,538,022		probably null	Het
Fn1	T	C	1: 71,626,210	E916G	probably damaging	Het
Gm2058	C	T	7: 39,589,156		noncoding transcript	Het
Gpd1	T	A	15: 99,718,175	V22E	probably damaging	Het
Hsf2	T	C	10: 57,501,379	F124L	probably damaging	Het
I0C0044D17Rik	A	G	4: 98,820,099		probably benign	Het
Igfbp3	A	T	11: 7,208,478	F262I	possibly damaging	Het
Klhl18	A	G	9: 110,455,433	Y62H	probably damaging	Het
Lama2	C	T	10: 27,188,272	E1238K	probably benign	Het
Man1b1	A	G	2: 25,338,227	K170E	probably benign	Het
Mcrs1	A	T	15: 99,249,501	I39N	probably damaging	Het
Mug2	T	C	6: 122,049,628		probably benign	Het
Neu3	C	A	7: 99,813,422	G365W	probably damaging	Het
Nipal3	A	C	4: 135,471,883		probably null	Het
Nrxn3	A	G	12: 89,255,034	I528V	possibly damaging	Het
Olfr122	A	T	17: 37,771,839	H71L	possibly damaging	Het
Osbpl8	A	G	10: 111,267,747	K204R	probably damaging	Het
Pax8	A	G	2: 24,435,919	S318P	possibly damaging	Het
Pcdh18	T	A	3: 49,756,141	N242Y	probably damaging	Het
Pkd1l2	T	A	8: 117,059,520	K649*	probably null	Het
Ppm1n	A	T	7: 19,279,254	D257E	probably benign	Het
Pxdn	A	G	12: 30,002,797	E811G	probably damaging	Het
Relb	T	C	7: 19,616,373	I218V	probably benign	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rtkn2	G	T	10: 68,025,519	C258F	possibly damaging	Het
Scn11a	G	A	9: 119,784,161		probably benign	Het
Snx8	G	A	5: 140,358,096	R96C	probably damaging	Het
Syne2	A	T	12: 76,060,226	T5649S	possibly damaging	Het
Tm2d3	T	A	7: 65,695,222	C82*	probably null	Het
Tnpo2	T	C	8: 85,040,526	L55P	probably damaging	Het
Tsc22d2	T	C	3: 58,417,415		probably benign	Het
Ube2r2	A	G	4: 41,174,119	I86V	probably benign	Het
Vps13d	G	A	4: 145,088,322	T3153I	probably damaging	Het
Wwp1	A	G	4: 19,627,636	I753T	probably damaging	Het

Other mutations in Ttll3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01677:Ttll3	APN	6	113412984	missense	probably benign
IGL01697:Ttll3	APN	6	113399729	missense	probably benign	0.00
IGL01944:Ttll3	APN	6	113414115	missense	probably benign
IGL02688:Ttll3	APN	6	113399739	missense	probably benign	0.00
IGL03068:Ttll3	APN	6	113409197	missense	probably damaging	1.00
R0373:Ttll3	UTSW	6	113398777	missense	probably damaging	1.00
R0472:Ttll3	UTSW	6	113409339	missense	probably damaging	1.00
R0625:Ttll3	UTSW	6	113408903	critical splice acceptor site	probably null
R1868:Ttll3	UTSW	6	113392764	missense	possibly damaging	0.95
R2026:Ttll3	UTSW	6	113398770	missense	probably damaging	1.00
R2061:Ttll3	UTSW	6	113409042	missense	possibly damaging	0.76
R2128:Ttll3	UTSW	6	113412934	missense	probably benign	0.31
R2896:Ttll3	UTSW	6	113392722	missense	probably benign	0.15
R2903:Ttll3	UTSW	6	113407323	missense	probably damaging	0.99
R2906:Ttll3	UTSW	6	113392510	unclassified	probably benign
R4659:Ttll3	UTSW	6	113414141	missense	probably benign
R4746:Ttll3	UTSW	6	113407392	missense	probably damaging	1.00
R4984:Ttll3	UTSW	6	113412940	missense	probably benign	0.00
R5358:Ttll3	UTSW	6	113401331	missense	probably benign	0.26
R5372:Ttll3	UTSW	6	113401421	nonsense	probably null
R5525:Ttll3	UTSW	6	113412978	missense	probably benign
R5548:Ttll3	UTSW	6	113393117	missense	probably damaging	1.00
R5694:Ttll3	UTSW	6	113399708	missense	probably damaging	1.00
R5993:Ttll3	UTSW	6	113398031	nonsense	probably null
R6119:Ttll3	UTSW	6	113394741	missense	probably damaging	1.00
R6268:Ttll3	UTSW	6	113392563	missense	probably benign	0.00
R6719:Ttll3	UTSW	6	113399032	intron	probably benign
R6852:Ttll3	UTSW	6	113399155	frame shift	probably null
R6852:Ttll3	UTSW	6	113399157	frame shift	probably null
R6852:Ttll3	UTSW	6	113399159	frame shift	probably null
R6853:Ttll3	UTSW	6	113399157	frame shift	probably null
R6854:Ttll3	UTSW	6	113399157	frame shift	probably null
R7170:Ttll3	UTSW	6	113413878	missense	probably benign	0.41
R7239:Ttll3	UTSW	6	113399157	frame shift	probably null
R7302:Ttll3	UTSW	6	113409285	missense	probably damaging	1.00
R7330:Ttll3	UTSW	6	113399157	frame shift	probably null
R7330:Ttll3	UTSW	6	113399164	frame shift	probably null
R7586:Ttll3	UTSW	6	113399157	frame shift	probably null
R7587:Ttll3	UTSW	6	113399157	frame shift	probably null
R7701:Ttll3	UTSW	6	113399157	frame shift	probably null
R7702:Ttll3	UTSW	6	113399157	frame shift	probably null
R7776:Ttll3	UTSW	6	113399159	frame shift	probably null
R7793:Ttll3	UTSW	6	113399159	frame shift	probably null
R7797:Ttll3	UTSW	6	113394777	missense	possibly damaging	0.76
R7824:Ttll3	UTSW	6	113399157	frame shift	probably null
R7825:Ttll3	UTSW	6	113399157	frame shift	probably null
R7825:Ttll3	UTSW	6	113399159	frame shift	probably null
R7826:Ttll3	UTSW	6	113399157	frame shift	probably null
R7827:Ttll3	UTSW	6	113399157	frame shift	probably null
R7827:Ttll3	UTSW	6	113399162	frame shift	probably null
R7831:Ttll3	UTSW	6	113399157	frame shift	probably null
R7832:Ttll3	UTSW	6	113399157	frame shift	probably null
R7833:Ttll3	UTSW	6	113409337	missense	probably damaging	1.00
R7966:Ttll3	UTSW	6	113399157	frame shift	probably null
R8344:Ttll3	UTSW	6	113394998	missense	probably damaging	1.00
R8418:Ttll3	UTSW	6	113394773	missense	probably benign	0.04
R8768:Ttll3	UTSW	6	113408988	missense	probably damaging	1.00

Posted On

2013-10-07