Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02688:Ttll3'

303643

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll3

Ensembl Gene

ENSMUSG00000030276

Gene Name

tubulin tyrosine ligase-like family, member 3

Synonyms

4833441J24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02688

Quality Score

Status

Chromosome

Chromosomal Location

113366221-113391548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113376700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 360 (I360T)

Ref Sequence

ENSEMBL: ENSMUSP00000037870 (fasta)

Gene Model

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

AlphaFold

A4Q9E5

Predicted Effect

probably benign
Transcript: ENSMUST00000032414
AA Change: I359T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: I359T

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 benign
Transcript: ENSMUST00000038889
AA Change: I360T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: I360T

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

unknown
Transcript: ENSMUST00000203524
AA Change: I206T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203925

Predicted Effect

probably benign
Transcript: ENSMUST00000204026

SMART Domains

Protein: ENSMUSP00000145049
Gene: ENSMUSG00000030276

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 benign
Transcript: ENSMUST00000205017

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	A	8: 41,279,357 (GRCm39)	R583S	probably benign	Het
Bcl9l	C	T	9: 44,416,560 (GRCm39)	T211I	possibly damaging	Het
C6	A	G	15: 4,827,802 (GRCm39)	I724V	probably benign	Het
Cacna2d4	T	A	6: 119,247,710 (GRCm39)		probably null	Het
Casp4	A	G	9: 5,322,844 (GRCm39)	E40G	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Dnah7a	A	C	1: 53,483,631 (GRCm39)	M3382R	possibly damaging	Het
Dst	T	C	1: 34,235,033 (GRCm39)	L3526P	probably damaging	Het
Eya4	A	G	10: 23,035,008 (GRCm39)	S116P	probably benign	Het
Gabra4	T	A	5: 71,729,510 (GRCm39)	E423D	probably benign	Het
Ighv1-67	T	G	12: 115,567,643 (GRCm39)	T90P	probably damaging	Het
Kcnh8	A	G	17: 53,266,471 (GRCm39)	T828A	probably benign	Het
Nr5a2	A	G	1: 136,868,145 (GRCm39)		probably null	Het
Nup214	C	T	2: 31,921,287 (GRCm39)	P1237S	probably benign	Het
Phactr3	A	G	2: 177,920,792 (GRCm39)	D215G	probably damaging	Het
Phf2	G	T	13: 48,959,315 (GRCm39)	P897Q	unknown	Het
Pla2r1	T	C	2: 60,285,545 (GRCm39)	R690G	probably damaging	Het
Ppargc1b	A	G	18: 61,445,314 (GRCm39)	S181P	possibly damaging	Het
Sele	A	T	1: 163,877,699 (GRCm39)	I165F	probably damaging	Het
Srcap	T	C	7: 127,141,625 (GRCm39)	S1626P	probably benign	Het
Tenm2	A	G	11: 35,959,285 (GRCm39)	I1088T	probably benign	Het
Tnrc18	T	C	5: 142,775,927 (GRCm39)	S69G	probably damaging	Het
Trmt5	C	A	12: 73,328,232 (GRCm39)	E324*	probably null	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het

Other mutations in Ttll3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Ttll3	APN	6	113,371,690 (GRCm39)	missense	probably damaging	1.00
IGL01677:Ttll3	APN	6	113,389,945 (GRCm39)	missense	probably benign
IGL01697:Ttll3	APN	6	113,376,690 (GRCm39)	missense	probably benign	0.00
IGL01944:Ttll3	APN	6	113,391,076 (GRCm39)	missense	probably benign
IGL03068:Ttll3	APN	6	113,386,158 (GRCm39)	missense	probably damaging	1.00
R0373:Ttll3	UTSW	6	113,375,738 (GRCm39)	missense	probably damaging	1.00
R0472:Ttll3	UTSW	6	113,386,300 (GRCm39)	missense	probably damaging	1.00
R0625:Ttll3	UTSW	6	113,385,864 (GRCm39)	critical splice acceptor site	probably null
R1868:Ttll3	UTSW	6	113,369,725 (GRCm39)	missense	possibly damaging	0.95
R2026:Ttll3	UTSW	6	113,375,731 (GRCm39)	missense	probably damaging	1.00
R2061:Ttll3	UTSW	6	113,386,003 (GRCm39)	missense	possibly damaging	0.76
R2128:Ttll3	UTSW	6	113,389,895 (GRCm39)	missense	probably benign	0.31
R2896:Ttll3	UTSW	6	113,369,683 (GRCm39)	missense	probably benign	0.15
R2903:Ttll3	UTSW	6	113,384,284 (GRCm39)	missense	probably damaging	0.99
R2906:Ttll3	UTSW	6	113,369,471 (GRCm39)	unclassified	probably benign
R4659:Ttll3	UTSW	6	113,391,102 (GRCm39)	missense	probably benign
R4746:Ttll3	UTSW	6	113,384,353 (GRCm39)	missense	probably damaging	1.00
R4984:Ttll3	UTSW	6	113,389,901 (GRCm39)	missense	probably benign	0.00
R5358:Ttll3	UTSW	6	113,378,292 (GRCm39)	missense	probably benign	0.26
R5372:Ttll3	UTSW	6	113,378,382 (GRCm39)	nonsense	probably null
R5525:Ttll3	UTSW	6	113,389,939 (GRCm39)	missense	probably benign
R5548:Ttll3	UTSW	6	113,370,078 (GRCm39)	missense	probably damaging	1.00
R5694:Ttll3	UTSW	6	113,376,669 (GRCm39)	missense	probably damaging	1.00
R5993:Ttll3	UTSW	6	113,374,992 (GRCm39)	nonsense	probably null
R6119:Ttll3	UTSW	6	113,371,702 (GRCm39)	missense	probably damaging	1.00
R6268:Ttll3	UTSW	6	113,369,524 (GRCm39)	missense	probably benign	0.00
R6719:Ttll3	UTSW	6	113,375,993 (GRCm39)	intron	probably benign
R6852:Ttll3	UTSW	6	113,376,120 (GRCm39)	frame shift	probably null
R6852:Ttll3	UTSW	6	113,376,116 (GRCm39)	frame shift	probably null
R6852:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R6853:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R6854:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7170:Ttll3	UTSW	6	113,390,839 (GRCm39)	missense	probably benign	0.41
R7239:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7302:Ttll3	UTSW	6	113,386,246 (GRCm39)	missense	probably damaging	1.00
R7330:Ttll3	UTSW	6	113,376,125 (GRCm39)	frame shift	probably null
R7330:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7586:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7587:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7701:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7702:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7776:Ttll3	UTSW	6	113,376,120 (GRCm39)	frame shift	probably null
R7793:Ttll3	UTSW	6	113,376,120 (GRCm39)	frame shift	probably null
R7797:Ttll3	UTSW	6	113,371,738 (GRCm39)	missense	possibly damaging	0.76
R7824:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7825:Ttll3	UTSW	6	113,376,120 (GRCm39)	frame shift	probably null
R7825:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7826:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7827:Ttll3	UTSW	6	113,376,123 (GRCm39)	frame shift	probably null
R7827:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7831:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7832:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7833:Ttll3	UTSW	6	113,386,298 (GRCm39)	missense	probably damaging	1.00
R7966:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R8344:Ttll3	UTSW	6	113,371,959 (GRCm39)	missense	probably damaging	1.00
R8418:Ttll3	UTSW	6	113,371,734 (GRCm39)	missense	probably benign	0.04
R8768:Ttll3	UTSW	6	113,385,949 (GRCm39)	missense	probably damaging	1.00
R9017:Ttll3	UTSW	6	113,389,850 (GRCm39)	missense	probably benign	0.00
R9036:Ttll3	UTSW	6	113,376,657 (GRCm39)	missense	possibly damaging	0.47
R9090:Ttll3	UTSW	6	113,369,596 (GRCm39)	missense	probably benign
R9271:Ttll3	UTSW	6	113,369,596 (GRCm39)	missense	probably benign
R9329:Ttll3	UTSW	6	113,369,635 (GRCm39)	missense	probably benign
R9532:Ttll3	UTSW	6	113,385,970 (GRCm39)	missense	possibly damaging	0.69
R9535:Ttll3	UTSW	6	113,389,834 (GRCm39)	missense	probably damaging	1.00
R9725:Ttll3	UTSW	6	113,386,114 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16