Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02937:Tll1'

364347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tll1

Ensembl Gene

ENSMUSG00000053626

Gene Name

tolloid-like

Synonyms

Tll-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02937

Quality Score

Status

Chromosome

Chromosomal Location

64014931-64206271 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 64205285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 33 (Y33*)

Ref Sequence

ENSEMBL: ENSMUSP00000070560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066166] [ENSMUST00000210256]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000066166
AA Change: Y33*

SMART Domains

Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: Y33*

Domain	Start	End	E-Value	Type
ZnMc	153	295	4.12e-56	SMART
CUB	349	461	4.12e-44	SMART
CUB	462	574	3.81e-48	SMART
EGF_CA	574	615	2.28e-9	SMART
CUB	618	730	9.11e-46	SMART
EGF_CA	730	770	4.25e-9	SMART
CUB	774	886	2.01e-47	SMART
CUB	887	1003	7.19e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209451

Predicted Effect

probably benign
Transcript: ENSMUST00000210256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211755

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,294,753	C21Y	probably damaging	Het
4933427D06Rik	T	C	6: 89,108,145		noncoding transcript	Het
5730480H06Rik	A	G	5: 48,379,441	I160V	probably benign	Het
Arhgap29	G	A	3: 121,974,049	E47K	probably damaging	Het
Arhgef12	T	A	9: 43,015,920	S303C	probably damaging	Het
Bap1	A	G	14: 31,258,327	N644S	probably benign	Het
Cc2d1b	A	G	4: 108,631,894	E796G	probably damaging	Het
Cfh	C	A	1: 140,105,442	R788L	probably benign	Het
Cldn1	A	G	16: 26,360,873	F148S	probably damaging	Het
Cryzl1	A	G	16: 91,690,731	M292T	possibly damaging	Het
Cyp11b1	T	C	15: 74,836,559	R385G	possibly damaging	Het
Cyp4f37	T	C	17: 32,625,189	L89P	probably benign	Het
Dach1	A	G	14: 97,915,795		probably null	Het
Ddx58	C	T	4: 40,229,661	C86Y	probably benign	Het
Dhtkd1	A	G	2: 5,917,905	I481T	possibly damaging	Het
Dlx5	A	T	6: 6,881,755	D44E	probably damaging	Het
Dsg1a	T	A	18: 20,331,534	I362N	possibly damaging	Het
Ecm2	T	A	13: 49,518,476	I151N	probably damaging	Het
Far1	T	A	7: 113,540,648	I101N	probably damaging	Het
Gm21985	T	C	2: 112,341,862	S384P	probably benign	Het
Gnb5	T	C	9: 75,340,189	Y247H	probably damaging	Het
Golgb1	A	G	16: 36,916,210	K1940E	probably damaging	Het
Gprc5b	A	G	7: 118,983,794	V284A	probably benign	Het
Idh2	T	C	7: 80,098,913	Y179C	probably damaging	Het
Kalrn	G	A	16: 34,220,130	Q737*	probably null	Het
Kcnj13	T	C	1: 87,386,453	D349G	probably damaging	Het
Lgsn	A	T	1: 31,204,237	T467S	possibly damaging	Het
Map9	T	A	3: 82,363,512	S128T	possibly damaging	Het
Mroh5	A	G	15: 73,789,978	C455R	probably damaging	Het
Nes	A	G	3: 87,979,879	H1771R	probably benign	Het
Nkain2	T	C	10: 32,329,844	Y65C	probably damaging	Het
Olfr303	T	C	7: 86,394,590	K303E	possibly damaging	Het
Olfr623	A	T	7: 103,660,905	V115D	probably damaging	Het
Olfr644	T	A	7: 104,068,849	M61L	probably damaging	Het
Pabpc4l	A	C	3: 46,446,290	D306E	probably benign	Het
Parp12	A	T	6: 39,102,581	Y332N	probably damaging	Het
Parvb	A	T	15: 84,308,953	K316M	probably damaging	Het
Pde8a	T	A	7: 81,295,771		probably benign	Het
Polq	A	G	16: 37,013,109	T55A	probably benign	Het
Ppp2r5b	T	A	19: 6,230,986	K271M	probably damaging	Het
Ralgapb	A	G	2: 158,493,016		probably null	Het
Skap2	T	C	6: 51,909,371	N175D	probably benign	Het
Slc44a3	A	G	3: 121,510,321		probably benign	Het
Smurf2	G	A	11: 106,846,047	H318Y	probably damaging	Het
Tbc1d23	T	C	16: 57,184,415	T460A	possibly damaging	Het
Tcerg1	T	C	18: 42,524,349	S299P	unknown	Het
Tmem59	A	T	4: 107,197,585	T196S	probably damaging	Het
Ttll4	C	A	1: 74,679,503	A171D	possibly damaging	Het
Ttn	T	C	2: 76,811,169	T13528A	possibly damaging	Het
Ttn	A	G	2: 76,887,277		probably benign	Het
Xpc	C	A	6: 91,500,137	G327W	probably damaging	Het
Zbtb7a	A	G	10: 81,144,298	S109G	probably benign	Het
Zfyve26	T	C	12: 79,239,020	M2328V	probably benign	Het

Other mutations in Tll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Tll1	APN	8	64016136	missense	probably benign
IGL00583:Tll1	APN	8	64205292	missense	probably benign
IGL00767:Tll1	APN	8	64071321	missense	probably damaging	1.00
IGL01061:Tll1	APN	8	64038454	critical splice donor site	probably null
IGL01077:Tll1	APN	8	64070232	missense	probably benign	0.27
IGL01536:Tll1	APN	8	64074289	missense	probably damaging	1.00
IGL02137:Tll1	APN	8	64016098	missense	possibly damaging	0.73
IGL02168:Tll1	APN	8	64053967	missense	possibly damaging	0.50
IGL02378:Tll1	APN	8	64017626	nonsense	probably null
IGL02469:Tll1	APN	8	64070280	missense	probably benign	0.41
IGL02504:Tll1	APN	8	64070237	missense	possibly damaging	0.55
IGL02650:Tll1	APN	8	64046997	splice site	probably benign
IGL03006:Tll1	APN	8	64074217	splice site	probably benign
R0518:Tll1	UTSW	8	64098471	missense	probably damaging	1.00
R0521:Tll1	UTSW	8	64098471	missense	probably damaging	1.00
R0541:Tll1	UTSW	8	64038452	splice site	probably null
R0612:Tll1	UTSW	8	64071310	missense	possibly damaging	0.91
R0690:Tll1	UTSW	8	64074290	missense	probably damaging	0.99
R0738:Tll1	UTSW	8	64101950	missense	probably damaging	1.00
R1454:Tll1	UTSW	8	64038490	missense	probably benign
R1619:Tll1	UTSW	8	64056273	missense	probably benign	0.25
R1625:Tll1	UTSW	8	64041442	missense	probably damaging	1.00
R1654:Tll1	UTSW	8	64117903	critical splice donor site	probably null
R1663:Tll1	UTSW	8	64017686	missense	probably benign	0.08
R1681:Tll1	UTSW	8	64085551	missense	possibly damaging	0.93
R1713:Tll1	UTSW	8	64101873	missense	probably damaging	0.99
R1908:Tll1	UTSW	8	64025107	missense	probably damaging	0.98
R2118:Tll1	UTSW	8	64085557	missense	probably benign	0.21
R2121:Tll1	UTSW	8	64085557	missense	probably benign	0.21
R2124:Tll1	UTSW	8	64085557	missense	probably benign	0.21
R2360:Tll1	UTSW	8	64051401	missense	probably damaging	1.00
R2396:Tll1	UTSW	8	64070290	nonsense	probably null
R3032:Tll1	UTSW	8	64098492	missense	probably damaging	0.96
R3115:Tll1	UTSW	8	64053866	missense	probably damaging	1.00
R3889:Tll1	UTSW	8	64205224	missense	possibly damaging	0.77
R4126:Tll1	UTSW	8	64118014	missense	possibly damaging	0.78
R4182:Tll1	UTSW	8	64041511	missense	probably damaging	1.00
R4572:Tll1	UTSW	8	64056309	missense	possibly damaging	0.81
R4677:Tll1	UTSW	8	64051377	missense	probably benign	0.31
R4811:Tll1	UTSW	8	64085473	missense	possibly damaging	0.72
R4904:Tll1	UTSW	8	64070199	missense	probably benign	0.00
R4992:Tll1	UTSW	8	64093944	missense	probably damaging	0.98
R5061:Tll1	UTSW	8	64053949	missense	probably damaging	0.99
R5078:Tll1	UTSW	8	64093887	missense	probably damaging	1.00
R5208:Tll1	UTSW	8	64051493	missense	probably damaging	0.99
R5283:Tll1	UTSW	8	64101966	missense	possibly damaging	0.68
R5399:Tll1	UTSW	8	64085488	missense	probably damaging	1.00
R5699:Tll1	UTSW	8	64117940	missense	probably damaging	0.98
R5986:Tll1	UTSW	8	64074263	missense	probably damaging	0.99
R6019:Tll1	UTSW	8	64041491	missense	possibly damaging	0.83
R6046:Tll1	UTSW	8	64053891	nonsense	probably null
R6083:Tll1	UTSW	8	64038586	splice site	probably null
R6125:Tll1	UTSW	8	64051487	missense	probably damaging	1.00
R6222:Tll1	UTSW	8	64098534	missense	probably benign	0.18
R6275:Tll1	UTSW	8	64051367	nonsense	probably null
R6508:Tll1	UTSW	8	64098460	missense	probably damaging	0.99
R6758:Tll1	UTSW	8	64041405	critical splice donor site	probably null
R6782:Tll1	UTSW	8	64071281	missense	probably benign	0.00
R6848:Tll1	UTSW	8	64098510	missense	probably damaging	0.99
R7057:Tll1	UTSW	8	64101881	missense	probably damaging	1.00
R7144:Tll1	UTSW	8	64124945	missense	possibly damaging	0.90
R7244:Tll1	UTSW	8	64025188	missense	probably benign	0.00
R7336:Tll1	UTSW	8	64025142	missense	probably damaging	0.98
R7373:Tll1	UTSW	8	64051357	missense	probably damaging	0.98
R7626:Tll1	UTSW	8	64098234	splice site	probably null
R7687:Tll1	UTSW	8	64121492	nonsense	probably null
R7699:Tll1	UTSW	8	64093954	missense	probably benign	0.00
R7700:Tll1	UTSW	8	64093954	missense	probably benign	0.00
R7765:Tll1	UTSW	8	64051449	missense	probably damaging	1.00
R7790:Tll1	UTSW	8	64025237	nonsense	probably null
R7954:Tll1	UTSW	8	64118534	missense	probably damaging	1.00
R8710:Tll1	UTSW	8	64124906	missense	possibly damaging	0.77
R8792:Tll1	UTSW	8	64085465	missense	probably damaging	1.00
R9134:Tll1	UTSW	8	64016167	missense	possibly damaging	0.91
R9444:Tll1	UTSW	8	64016089	missense	probably damaging	1.00
X0020:Tll1	UTSW	8	64017628	missense	probably damaging	0.97
Z1176:Tll1	UTSW	8	64047163	missense	probably damaging	1.00

Posted On

2015-12-18