Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Ttll3'

104309

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 #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

113366221-113391548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113376690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 357 (S357P)

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: S356P

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

SMART Domains

Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: S356P

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: S357P

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

SMART Domains

Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: S357P

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: S203P

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,203,613 (GRCm39)		probably benign	Het
Arid2	A	C	15: 96,259,453 (GRCm39)		probably null	Het
Cadm1	C	A	9: 47,761,622 (GRCm39)	D435E	probably damaging	Het
Dagla	A	G	19: 10,248,562 (GRCm39)	F33L	probably benign	Het
Edrf1	A	G	7: 133,245,459 (GRCm39)	H199R	probably benign	Het
F5	T	A	1: 164,021,621 (GRCm39)	N1365K	probably benign	Het
Gipc2	T	G	3: 151,843,245 (GRCm39)	I131L	probably benign	Het
Gpc1	C	T	1: 92,786,132 (GRCm39)	S507F	possibly damaging	Het
Grid1	A	G	14: 35,031,214 (GRCm39)	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,330,573 (GRCm39)	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871 (GRCm39)	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,536,965 (GRCm39)	C252S	probably damaging	Het
Mast4	A	C	13: 102,904,401 (GRCm39)	N645K	probably damaging	Het
Megf9	T	A	4: 70,351,709 (GRCm39)	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,953,477 (GRCm39)	D586G	possibly damaging	Het
Ninl	A	T	2: 150,781,867 (GRCm39)	L1206Q	probably damaging	Het
Oog2	T	A	4: 143,921,754 (GRCm39)	N221K	possibly damaging	Het
Or13a17	T	C	7: 140,271,565 (GRCm39)	V249A	possibly damaging	Het
Or5b96	T	A	19: 12,867,831 (GRCm39)	T37S	probably benign	Het
Or6c8b	C	A	10: 128,882,371 (GRCm39)	C187F	probably damaging	Het
Pik3ap1	G	A	19: 41,313,018 (GRCm39)	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,356,972 (GRCm39)	E181G	probably benign	Het
Scaf11	A	C	15: 96,321,504 (GRCm39)		probably benign	Het
Skic3	C	T	13: 76,276,852 (GRCm39)	L479F	probably benign	Het
Skint7	T	A	4: 111,837,654 (GRCm39)		probably benign	Het
Sox14	T	C	9: 99,757,716 (GRCm39)	I8V	probably benign	Het
Spata31f3	T	A	4: 42,874,163 (GRCm39)	M2L	probably benign	Het
Stim1	A	T	7: 102,075,176 (GRCm39)		probably benign	Het
Vmn1r178	T	A	7: 23,593,114 (GRCm39)	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,920,460 (GRCm39)		probably benign	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
IGL01944:Ttll3	APN	6	113,391,076 (GRCm39)	missense	probably benign
IGL02688:Ttll3	APN	6	113,376,700 (GRCm39)	missense	probably benign	0.00
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

2014-01-21