Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Ttll3'

316242

Institutional Source

Beutler Lab

Gene Symbol

Ttll3

Ensembl Gene

ENSMUSG00000030276

Gene Name

tubulin tyrosine ligase-like family, member 3

Synonyms

4833441J24Rik

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113366221-113391548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113386003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 612 (A612V)

Ref Sequence

ENSEMBL: ENSMUSP00000032414 (fasta)

Gene Model

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

AlphaFold

A4Q9E5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032414
AA Change: A612V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: A612V

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: A613V

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: A613V

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: A459V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204255

Predicted Effect

probably benign
Transcript: ENSMUST00000205017

Meta Mutation Damage Score

0.1024

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,502,412 (GRCm39)	S191P	probably damaging	Het
Ak2	C	T	4: 128,901,990 (GRCm39)	A221V	probably damaging	Het
Akap9	T	A	5: 4,011,010 (GRCm39)	V571E	probably damaging	Het
Amph	G	T	13: 19,309,205 (GRCm39)	E428*	probably null	Het
Armh3	C	T	19: 45,967,106 (GRCm39)	R12Q	probably damaging	Het
Arnt2	T	A	7: 83,993,078 (GRCm39)	D154V	probably damaging	Het
Arrdc1	G	A	2: 24,816,364 (GRCm39)	Q202*	probably null	Het
Ate1	A	G	7: 130,112,643 (GRCm39)	C72R	probably damaging	Het
Atox1	A	G	11: 55,345,724 (GRCm39)	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,373,215 (GRCm39)	M3L	probably damaging	Het
Bfsp1	A	G	2: 143,704,598 (GRCm39)	V85A	probably benign	Het
Bltp2	T	A	11: 78,159,575 (GRCm39)	C541*	probably null	Het
Caskin2	C	A	11: 115,694,456 (GRCm39)	V382F	probably benign	Het
Ccdc39	T	A	3: 33,874,045 (GRCm39)	M596L	probably damaging	Het
Cd22	C	T	7: 30,569,530 (GRCm39)	V529M	probably damaging	Het
Cd22	A	C	7: 30,575,581 (GRCm39)	Y154D	probably benign	Het
Cdadc1	T	A	14: 59,818,783 (GRCm39)	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,868,631 (GRCm39)	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,726,061 (GRCm39)		probably benign	Het
Cebpa	G	T	7: 34,818,947 (GRCm39)	R35L	probably damaging	Het
Chat	T	C	14: 32,168,830 (GRCm39)	N235S	probably benign	Het
Col12a1	T	A	9: 79,524,987 (GRCm39)	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,045,193 (GRCm39)	E231G	probably damaging	Het
Cryaa	G	T	17: 31,900,029 (GRCm39)	A151S	probably benign	Het
Cspg4b	T	A	13: 113,454,628 (GRCm39)	W225R	probably damaging	Het
Dab1	A	T	4: 104,535,938 (GRCm39)	I116F	probably damaging	Het
Ddx43	C	A	9: 78,303,386 (GRCm39)	N75K	probably benign	Het
Dmbt1	T	G	7: 130,700,863 (GRCm39)	C1014G	possibly damaging	Het
Dner	C	A	1: 84,383,710 (GRCm39)	C558F	probably damaging	Het
Dsc2	A	G	18: 20,165,456 (GRCm39)	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,660,794 (GRCm39)	R378*	probably null	Het
Ecpas	G	T	4: 58,824,270 (GRCm39)	P1116T	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha6	T	C	16: 59,476,160 (GRCm39)	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,480,416 (GRCm39)		noncoding transcript	Het
Faf1	A	T	4: 109,568,005 (GRCm39)	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,503,373 (GRCm39)	V85E	probably damaging	Het
Gadl1	T	A	9: 115,770,448 (GRCm39)	I87N	probably damaging	Het
Galnt14	A	G	17: 73,819,148 (GRCm39)	F314S	probably damaging	Het
Gba2	A	T	4: 43,574,029 (GRCm39)	Y141*	probably null	Het
Gdap1	A	T	1: 17,215,689 (GRCm39)		probably benign	Het
Gfod1	A	T	13: 43,456,719 (GRCm39)		probably null	Het
Gm14295	C	T	2: 176,502,474 (GRCm39)	R655*	probably null	Het
Gm4353	A	G	7: 115,682,934 (GRCm39)	S216P	probably damaging	Het
Gm6605	T	A	7: 38,147,706 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,841,227 (GRCm39)	D634E	probably damaging	Het
Helz2	A	G	2: 180,882,337 (GRCm39)	I152T	probably damaging	Het
Hivep1	A	G	13: 42,313,600 (GRCm39)	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,263,244 (GRCm39)	F144L	probably benign	Het
Inhca	T	C	9: 103,145,513 (GRCm39)	M395V	probably benign	Het
Itgae	A	T	11: 73,009,448 (GRCm39)	Q544L	probably benign	Het
Jmjd1c	A	T	10: 67,054,205 (GRCm39)	E323D	probably damaging	Het
Kdm5a	G	T	6: 120,358,578 (GRCm39)	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377 (GRCm39)		probably null	Het
Lbp	T	C	2: 158,166,499 (GRCm39)	V351A	probably benign	Het
Lss	A	T	10: 76,381,932 (GRCm39)		probably null	Het
Madd	A	C	2: 90,991,831 (GRCm39)		probably benign	Het
Map6	G	A	7: 98,966,679 (GRCm39)	V503I	probably damaging	Het
Mark1	A	G	1: 184,660,260 (GRCm39)	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,563,404 (GRCm39)	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,305,902 (GRCm39)	N5S	probably benign	Het
Mdm4	A	T	1: 132,940,389 (GRCm39)	F48I	probably damaging	Het
Mga	A	T	2: 119,795,461 (GRCm39)		probably benign	Het
Mknk2	A	T	10: 80,507,391 (GRCm39)		probably null	Het
Mmp15	T	C	8: 96,097,407 (GRCm39)	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,053,288 (GRCm39)	K879R	probably benign	Het
Mycbp2	T	C	14: 103,524,696 (GRCm39)	K655E	probably damaging	Het
Nasp	T	C	4: 116,468,323 (GRCm39)	N221D	probably benign	Het
Ndc80	T	C	17: 71,821,213 (GRCm39)	E245G	probably benign	Het
Nmral1	C	T	16: 4,534,193 (GRCm39)	E83K	probably damaging	Het
Noa1	T	A	5: 77,452,034 (GRCm39)	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,086,097 (GRCm39)	Y211*	probably null	Het
Or10n1	G	T	9: 39,525,071 (GRCm39)	M69I	probably benign	Het
Or10v1	T	A	19: 11,873,921 (GRCm39)	Y179N	probably damaging	Het
Or2ag18	A	C	7: 106,404,975 (GRCm39)	H231Q	probably benign	Het
Or4l1	T	C	14: 50,166,478 (GRCm39)	I174M	possibly damaging	Het
Or5b118	A	G	19: 13,448,605 (GRCm39)	I90M	probably damaging	Het
Otoa	T	C	7: 120,730,551 (GRCm39)	F584L	probably damaging	Het
Palb2	G	A	7: 121,723,748 (GRCm39)	T304I	possibly damaging	Het
Pcolce2	A	T	9: 95,552,229 (GRCm39)	M121L	probably benign	Het
Pcsk5	T	C	19: 17,432,236 (GRCm39)	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,668,041 (GRCm39)	D731V	probably damaging	Het
Pex11b	C	A	3: 96,543,037 (GRCm39)	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,768,136 (GRCm39)	Q398E	probably benign	Het
Pkd1	A	G	17: 24,788,888 (GRCm39)	E882G	possibly damaging	Het
Pkhd1	A	T	1: 20,683,036 (GRCm39)	N55K	possibly damaging	Het
Plch2	A	T	4: 155,127,298 (GRCm39)		probably benign	Het
Plcl1	T	A	1: 55,790,504 (GRCm39)	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,673,190 (GRCm39)	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,338,437 (GRCm39)	L676P	probably damaging	Het
Ppp6c	T	G	2: 39,116,186 (GRCm39)	D23A	probably damaging	Het
Prss30	G	A	17: 24,193,642 (GRCm39)		probably benign	Het
Ptprz1	T	C	6: 23,049,674 (GRCm39)		probably null	Het
Rec114	T	A	9: 58,560,188 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,680,764 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,493,349 (GRCm39)	I3715N	possibly damaging	Het
Scin	T	C	12: 40,130,947 (GRCm39)	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,291,652 (GRCm39)	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,314,717 (GRCm39)	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,450,525 (GRCm39)	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,208,027 (GRCm39)	I179T	probably benign	Het
Slc35b1	T	G	11: 95,276,718 (GRCm39)	F102V	possibly damaging	Het
Slc66a2	G	T	18: 80,334,930 (GRCm39)	A232S	probably benign	Het
Slc6a15	A	G	10: 103,245,595 (GRCm39)	D526G	probably benign	Het
Spata16	A	G	3: 26,978,519 (GRCm39)	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,506,228 (GRCm39)	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,709,044 (GRCm39)		noncoding transcript	Het
Sufu	T	A	19: 46,385,651 (GRCm39)	I37N	probably damaging	Het
Tacr1	C	T	6: 82,469,535 (GRCm39)	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tenm3	C	T	8: 48,795,291 (GRCm39)		probably null	Het
Tex36	A	T	7: 133,196,952 (GRCm39)	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,227,887 (GRCm39)	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,159,445 (GRCm39)		probably benign	Het
Trim11	A	G	11: 58,872,889 (GRCm39)	E191G	probably damaging	Het
Ttn	G	A	2: 76,807,466 (GRCm39)	A89V	probably damaging	Het
Usp37	A	G	1: 74,507,431 (GRCm39)	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,298,698 (GRCm39)	V68G	probably benign	Het
Vwf	T	C	6: 125,568,151 (GRCm39)	S349P	probably damaging	Het
Wt1	G	A	2: 104,961,502 (GRCm39)		probably null	Het
Zcchc7	T	A	4: 44,895,838 (GRCm39)	L262H	probably damaging	Het
Zfp873	A	G	10: 81,895,991 (GRCm39)	S241G	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAAGCCCTGAAGTTGGTG -3'
(R):5'- ATGACCACACGCAGGGTATC -3'

Sequencing Primer
(F):5'- AAGTTGGTGCAGGGCTCC -3'
(R):5'- AGGGTATCTGCCTGCACAC -3'

Posted On

2015-05-15