Mutagenetix > Incidental Mutation

Incidental Mutation 'R9090:Ttll3'

690889

Institutional Source

Beutler Lab

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 #

R9090 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113389260-113414587 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113392635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 47 (S47P)

Ref Sequence

ENSEMBL: ENSMUSP00000032414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032414] [ENSMUST00000038889] [ENSMUST00000156898] [ENSMUST00000171058] [ENSMUST00000203578] [ENSMUST00000204026] [ENSMUST00000204802] [ENSMUST00000205017]

AlphaFold

A4Q9E5

Predicted Effect

probably benign
Transcript: ENSMUST00000032414
AA Change: S47P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: S47P

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: S47P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: S47P

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

probably benign
Transcript: ENSMUST00000171058

SMART Domains

Protein: ENSMUSP00000131690
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	91	1.1e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203524

Predicted Effect

probably benign
Transcript: ENSMUST00000203578

SMART Domains

Protein: ENSMUSP00000145344
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	77	1.2e-41	PFAM

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

probably benign
Transcript: ENSMUST00000204802

SMART Domains

Protein: ENSMUSP00000144751
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	77	1.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205017

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 120,011,114	S819T	probably damaging	Het
Abca13	A	T	11: 9,291,698	D1187V	probably damaging	Het
AF366264	T	C	8: 13,836,697	T465A	possibly damaging	Het
Ak9	C	A	10: 41,424,627	T1611K	unknown	Het
Als2	G	T	1: 59,203,030	T622K	probably benign	Het
Ankrd40	G	A	11: 94,334,436	A98T	probably benign	Het
Ap1b1	T	C	11: 5,023,174	L339P	probably damaging	Het
Appl1	A	C	14: 26,947,127	H363Q	probably benign	Het
Atf6	T	C	1: 170,794,676	N459D	probably damaging	Het
Ccdc129	G	T	6: 55,967,066	R417L	probably benign	Het
Ccdc6	A	T	10: 70,189,163	Q432L	unknown	Het
Ccl21a	T	A	4: 42,773,486	Q84L	probably damaging	Het
Cct4	A	G	11: 23,001,389	I348V	probably benign	Het
Cd300ld2	A	G	11: 115,013,724	Y106H	probably damaging	Het
Cdh19	C	T	1: 110,949,217	E131K	probably damaging	Het
Cdon	A	G	9: 35,491,879	D1095G	probably damaging	Het
Cep85l	T	A	10: 53,281,574	R678*	probably null	Het
Chst3	T	A	10: 60,185,643	S461C	probably damaging	Het
Clk1	A	G	1: 58,420,153	I149T	possibly damaging	Het
Clvs2	T	A	10: 33,513,305	D313V	possibly damaging	Het
Dap3	T	C	3: 88,933,606	T75A	probably benign	Het
Dnaaf1	T	A	8: 119,597,653	F631L	probably benign	Het
Dnah14	A	T	1: 181,769,760	N3549I	probably benign	Het
Dnah17	A	T	11: 118,041,044	Y3701N	probably damaging	Het
Dock6	A	G	9: 21,841,500	V339A	possibly damaging	Het
Dpp6	T	A	5: 27,598,834	C259*	probably null	Het
Dqx1	A	G	6: 83,059,043	T119A	probably benign	Het
Dync1h1	G	T	12: 110,616,876	R469L	probably benign	Het
Eno4	C	T	19: 58,962,828	A424V	probably benign	Het
Fads1	T	A	19: 10,185,798	D146E	probably damaging	Het
Fam171a1	C	T	2: 3,223,506	T303M	probably damaging	Het
Fam189a2	A	T	19: 23,994,857	I161N	possibly damaging	Het
Fam71a	A	G	1: 191,162,956	S497P	probably damaging	Het
Fbxw20	C	T	9: 109,221,355	D401N	probably benign	Het
Fcho1	T	A	8: 71,710,424	T654S	possibly damaging	Het
Flad1	C	A	3: 89,408,551	E235*	probably null	Het
Flrt2	G	T	12: 95,779,133	A82S	probably benign	Het
Gabrg3	A	T	7: 57,179,638	S124T	probably benign	Het
Galt	C	T	4: 41,756,777	T139I	probably benign	Het
Gfod1	T	C	13: 43,303,385	E38G	possibly damaging	Het
Gm10330	A	G	12: 23,779,991	I63T	possibly damaging	Het
Gm15448	T	A	7: 3,816,998	E640V	unknown	Het
Gm49359	A	G	13: 62,455,053	V111A	probably benign	Het
Gpank1	C	T	17: 35,121,758		probably benign	Het
Hck	T	C	2: 153,131,265	L156P	probably damaging	Het
Hcn3	G	T	3: 89,149,960	R444S	probably damaging	Het
Hephl1	T	C	9: 15,076,940	N624S	probably damaging	Het
Hmcn1	A	G	1: 150,756,558	I876T	probably damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,196		probably benign	Het
Itga9	T	A	9: 118,671,791	D377E	possibly damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klk11	C	T	7: 43,776,530	L32F	probably benign	Het
Lta4h	A	G	10: 93,474,550	S427G	probably benign	Het
Lxn	T	A	3: 67,461,318	I122F	probably damaging	Het
Lyz1	A	G	10: 117,288,587	V148A	possibly damaging	Het
Mael	G	T	1: 166,204,855	Q326K	probably benign	Het
Magi3	T	C	3: 104,015,948	D1151G	possibly damaging	Het
Map3k9	C	A	12: 81,722,487	G929V	probably benign	Het
Mcoln1	A	G	8: 3,505,771	Y22C	probably damaging	Het
Mier3	G	T	13: 111,691,336	M45I	probably benign	Het
Mrpl1	T	C	5: 96,223,887	V91A	probably damaging	Het
Myo7a	T	C	7: 98,091,074	H571R	probably benign	Het
Myom1	T	A	17: 71,067,330	W601R	probably damaging	Het
Myom3	C	T	4: 135,778,168	T456I	probably benign	Het
Nags	A	T	11: 102,146,758	H225L	probably benign	Het
Ncaph	C	A	2: 127,116,634	K488N	probably damaging	Het
Nkain3	C	T	4: 20,484,897	R60H	probably damaging	Het
Nlrp9a	A	T	7: 26,562,519	M698L	probably benign	Het
Nmur2	A	C	11: 56,040,482	I134M	probably benign	Het
Nrp2	A	C	1: 62,745,511	E273A	probably benign	Het
Nup85	A	G	11: 115,577,961	D210G	possibly damaging	Het
Obscn	A	G	11: 59,115,817	F1173S	probably damaging	Het
Olfr206	A	T	16: 59,344,782	C306*	probably null	Het
Otogl	T	A	10: 107,817,113	E1126V	probably null	Het
Pfkl	T	C	10: 77,997,592	I259V	probably benign	Het
Phkg1	A	T	5: 129,865,022	Y291N	probably benign	Het
Piezo2	T	G	18: 63,030,379	H2156P	probably damaging	Het
Piezo2	C	A	18: 63,075,719	V1408L	probably damaging	Het
Plekhg3	A	G	12: 76,575,920	T646A	probably benign	Het
Plk5	C	G	10: 80,357,996	R40G	probably damaging	Het
Ppp1r12a	T	C	10: 108,262,363	S838P	probably damaging	Het
Rarb	A	T	14: 16,435,235	Y270*	probably null	Het
Rbm15	T	C	3: 107,331,996	E362G	possibly damaging	Het
Rcan1	A	G	16: 92,465,853	F76L		Het
Rdh19	T	C	10: 127,860,273	L298P	probably damaging	Het
Rims1	T	A	1: 22,428,522	H57L		Het
Rlf	T	C	4: 121,147,554	T1520A	probably benign	Het
Rnase1	T	A	14: 51,145,507	H130L	possibly damaging	Het
Samd8	T	A	14: 21,792,501	M360K	probably damaging	Het
Samhd1	A	G	2: 157,114,285	L329P	probably damaging	Het
Scube1	C	T	15: 83,610,193	E878K	probably damaging	Het
Sema3b	T	C	9: 107,598,955	Y689C	probably damaging	Het
Sh3pxd2b	A	T	11: 32,423,361	N843Y	possibly damaging	Het
Slco1a6	C	T	6: 142,089,849	C583Y	probably damaging	Het
Smg1	A	C	7: 118,212,563	V88G	unknown	Het
Spata24	T	A	18: 35,657,001	N146Y	probably damaging	Het
Tcf3	C	A	10: 80,417,357	V258L	probably benign	Het
Tiam2	T	C	17: 3,414,736	Y247H	probably damaging	Het
Ticrr	T	C	7: 79,660,856	F173L	possibly damaging	Het
Tpp2	A	G	1: 43,954,651	E232G	probably damaging	Het
Trank1	T	A	9: 111,345,479	V138E	probably damaging	Het
Utp4	C	T	8: 106,906,225	T280M	probably damaging	Het
Vmn1r123	A	T	7: 21,162,869	N229Y	probably benign	Het
Vmn1r85	A	T	7: 13,085,015	Y67*	probably null	Het
Zbtb12	T	A	17: 34,895,344	V35E	possibly damaging	Het
Zmym6	T	A	4: 127,124,061	F1212I	probably damaging	Het

Other mutations in Ttll3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Ttll3	APN	6	113394729	missense	probably damaging	1.00
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
R9017:Ttll3	UTSW	6	113412889	missense	probably benign	0.00
R9036:Ttll3	UTSW	6	113399696	missense	possibly damaging	0.47
R9271:Ttll3	UTSW	6	113392635	missense	probably benign
R9329:Ttll3	UTSW	6	113392674	missense	probably benign
R9532:Ttll3	UTSW	6	113409009	missense	possibly damaging	0.69
R9535:Ttll3	UTSW	6	113412873	missense	probably damaging	1.00
R9725:Ttll3	UTSW	6	113409153	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCCTAGGAGACGGGAAAC -3'
(R):5'- GCATTGCAGATTCCCCATCC -3'

Sequencing Primer
(F):5'- ACAAGAGGACGGGGCCC -3'
(R):5'- ATCAGGAAGGGGCTCATCC -3'

Posted On

2021-12-30