Mutagenetix > Incidental Mutation

Incidental Mutation 'R2903:Ttll3'

261551

Institutional Source

Beutler Lab

Gene Symbol

Ttll3

Ensembl Gene

ENSMUSG00000030276

Gene Name

tubulin tyrosine ligase-like family, member 3

Synonyms

4833441J24Rik

MMRRC Submission

040490-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113366221-113391548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113384284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 534 (F534S)

Ref Sequence

ENSEMBL: ENSMUSP00000032414 (fasta)

Gene Model

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

AlphaFold

A4Q9E5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032414
AA Change: F534S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: F534S

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: F535S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: F535S

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: F381S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204255

Predicted Effect

probably benign
Transcript: ENSMUST00000205017

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	A	T	14: 34,233,898 (GRCm39)	V131E	unknown	Het
Ccnk	T	C	12: 108,168,647 (GRCm39)		probably benign	Het
Cd276	A	G	9: 58,444,603 (GRCm39)	F123L	probably benign	Het
Ddr2	T	A	1: 169,825,730 (GRCm39)	N290I	probably damaging	Het
Ecpas	A	G	4: 58,828,622 (GRCm39)	V937A	possibly damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gpt	A	G	15: 76,582,666 (GRCm39)	D37G	probably damaging	Het
Grik3	T	A	4: 125,564,437 (GRCm39)	L473Q	probably damaging	Het
Hsp90b1	A	C	10: 86,539,349 (GRCm39)	I90S	probably damaging	Het
Ift56	T	C	6: 38,378,037 (GRCm39)	V283A	possibly damaging	Het
Ing5	G	A	1: 93,731,710 (GRCm39)		probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kdr	T	C	5: 76,127,069 (GRCm39)	Y307C	probably damaging	Het
Or51t4	A	T	7: 102,598,661 (GRCm39)	M320L	probably benign	Het
Rapgef5	A	G	12: 117,677,854 (GRCm39)	K161R	probably damaging	Het
Rassf10	A	T	7: 112,553,756 (GRCm39)	D119V	possibly damaging	Het
Samhd1	A	T	2: 156,965,335 (GRCm39)	F160Y	possibly damaging	Het
Sh3bp2	T	A	5: 34,700,900 (GRCm39)	C34*	probably null	Het
Six3	A	G	17: 85,931,283 (GRCm39)	E313G	probably damaging	Het
Tas2r118	A	G	6: 23,969,801 (GRCm39)	F87L	possibly damaging	Het
Tmem131	A	G	1: 36,864,378 (GRCm39)	L591P	probably damaging	Het
Trav17	A	C	14: 54,044,123 (GRCm39)	S10R	probably benign	Het
Umodl1	T	A	17: 31,211,147 (GRCm39)	V890E	probably damaging	Het
Uso1	G	A	5: 92,343,294 (GRCm39)		probably null	Het
Utrn	A	G	10: 12,519,172 (GRCm39)	I2260T	probably damaging	Het
Vav1	A	G	17: 57,613,187 (GRCm39)	N620D	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
IGL01697:Ttll3	APN	6	113,376,690 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCACTTCTGACCACAGCCTG -3'
(R):5'- AGTCTGTGGTCTGAAATCTAGCC -3'

Sequencing Primer
(F):5'- GAGCTCTTGGTCCCTGACTG -3'
(R):5'- CTAGCCTGGATCTAAGAGTTCACTG -3'

Posted On

2015-01-23