Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00767:Tll1'

14471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tll1

Ensembl Gene

ENSMUSG00000053626

Gene Name

tolloid-like

Synonyms

Tll-1, b2b2476Clo

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00767

Quality Score

Status

Chromosome

Chromosomal Location

64467965-64659305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64524355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 444 (R444C)

Ref Sequence

ENSEMBL: ENSMUSP00000070560 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066166
AA Change: R444C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: R444C

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

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anpep	A	C	7: 79,490,638 (GRCm39)	S293A	probably benign	Het
Dgkh	T	A	14: 78,824,701 (GRCm39)		probably benign	Het
Dlg5	T	A	14: 24,215,353 (GRCm39)	T657S	probably damaging	Het
Hpf1	A	G	8: 61,349,836 (GRCm39)	I155V	probably benign	Het
Il12rb2	T	C	6: 67,280,546 (GRCm39)	I554V	possibly damaging	Het
Mindy2	A	G	9: 70,541,285 (GRCm39)		probably null	Het
Nostrin	A	G	2: 69,006,119 (GRCm39)	T268A	probably benign	Het
Npy6r	A	G	18: 44,409,385 (GRCm39)	T269A	probably benign	Het
Nt5dc3	T	A	10: 86,656,137 (GRCm39)		probably benign	Het
Osgin2	G	A	4: 16,006,377 (GRCm39)	H106Y	probably damaging	Het
Pdlim3	G	A	8: 46,349,827 (GRCm39)	G46R	probably damaging	Het
Pdpk1	T	G	17: 24,325,835 (GRCm39)	K147N	possibly damaging	Het
Pfkfb3	T	C	2: 11,493,565 (GRCm39)	D137G	probably damaging	Het
Polg	G	A	7: 79,101,673 (GRCm39)	P1048S	probably damaging	Het
Ptcd3	A	T	6: 71,880,432 (GRCm39)	I97K	probably damaging	Het
Resf1	T	C	6: 149,236,248 (GRCm39)		probably benign	Het
Serpinb10	G	T	1: 107,463,807 (GRCm39)	V30F	possibly damaging	Het
Stk17b	A	G	1: 53,803,182 (GRCm39)		probably benign	Het
Ttbk2	A	G	2: 120,576,226 (GRCm39)	V848A	probably benign	Het
Ttn	T	C	2: 76,716,017 (GRCm39)		probably benign	Het

Other mutations in Tll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Tll1	APN	8	64,469,170 (GRCm39)	missense	probably benign
IGL00583:Tll1	APN	8	64,658,326 (GRCm39)	missense	probably benign
IGL01061:Tll1	APN	8	64,491,488 (GRCm39)	critical splice donor site	probably null
IGL01077:Tll1	APN	8	64,523,266 (GRCm39)	missense	probably benign	0.27
IGL01536:Tll1	APN	8	64,527,323 (GRCm39)	missense	probably damaging	1.00
IGL02137:Tll1	APN	8	64,469,132 (GRCm39)	missense	possibly damaging	0.73
IGL02168:Tll1	APN	8	64,507,001 (GRCm39)	missense	possibly damaging	0.50
IGL02378:Tll1	APN	8	64,470,660 (GRCm39)	nonsense	probably null
IGL02469:Tll1	APN	8	64,523,314 (GRCm39)	missense	probably benign	0.41
IGL02504:Tll1	APN	8	64,523,271 (GRCm39)	missense	possibly damaging	0.55
IGL02650:Tll1	APN	8	64,500,031 (GRCm39)	splice site	probably benign
IGL02937:Tll1	APN	8	64,658,319 (GRCm39)	nonsense	probably null
IGL03006:Tll1	APN	8	64,527,251 (GRCm39)	splice site	probably benign
R0518:Tll1	UTSW	8	64,551,505 (GRCm39)	missense	probably damaging	1.00
R0521:Tll1	UTSW	8	64,551,505 (GRCm39)	missense	probably damaging	1.00
R0541:Tll1	UTSW	8	64,491,486 (GRCm39)	splice site	probably null
R0612:Tll1	UTSW	8	64,524,344 (GRCm39)	missense	possibly damaging	0.91
R0690:Tll1	UTSW	8	64,527,324 (GRCm39)	missense	probably damaging	0.99
R0738:Tll1	UTSW	8	64,554,984 (GRCm39)	missense	probably damaging	1.00
R1454:Tll1	UTSW	8	64,491,524 (GRCm39)	missense	probably benign
R1619:Tll1	UTSW	8	64,509,307 (GRCm39)	missense	probably benign	0.25
R1625:Tll1	UTSW	8	64,494,476 (GRCm39)	missense	probably damaging	1.00
R1654:Tll1	UTSW	8	64,570,937 (GRCm39)	critical splice donor site	probably null
R1663:Tll1	UTSW	8	64,470,720 (GRCm39)	missense	probably benign	0.08
R1681:Tll1	UTSW	8	64,538,585 (GRCm39)	missense	possibly damaging	0.93
R1713:Tll1	UTSW	8	64,554,907 (GRCm39)	missense	probably damaging	0.99
R1908:Tll1	UTSW	8	64,478,141 (GRCm39)	missense	probably damaging	0.98
R2118:Tll1	UTSW	8	64,538,591 (GRCm39)	missense	probably benign	0.21
R2121:Tll1	UTSW	8	64,538,591 (GRCm39)	missense	probably benign	0.21
R2124:Tll1	UTSW	8	64,538,591 (GRCm39)	missense	probably benign	0.21
R2360:Tll1	UTSW	8	64,504,435 (GRCm39)	missense	probably damaging	1.00
R2396:Tll1	UTSW	8	64,523,324 (GRCm39)	nonsense	probably null
R3032:Tll1	UTSW	8	64,551,526 (GRCm39)	missense	probably damaging	0.96
R3115:Tll1	UTSW	8	64,506,900 (GRCm39)	missense	probably damaging	1.00
R3889:Tll1	UTSW	8	64,658,258 (GRCm39)	missense	possibly damaging	0.77
R4126:Tll1	UTSW	8	64,571,048 (GRCm39)	missense	possibly damaging	0.78
R4182:Tll1	UTSW	8	64,494,545 (GRCm39)	missense	probably damaging	1.00
R4572:Tll1	UTSW	8	64,509,343 (GRCm39)	missense	possibly damaging	0.81
R4677:Tll1	UTSW	8	64,504,411 (GRCm39)	missense	probably benign	0.31
R4811:Tll1	UTSW	8	64,538,507 (GRCm39)	missense	possibly damaging	0.72
R4904:Tll1	UTSW	8	64,523,233 (GRCm39)	missense	probably benign	0.00
R4992:Tll1	UTSW	8	64,546,978 (GRCm39)	missense	probably damaging	0.98
R5061:Tll1	UTSW	8	64,506,983 (GRCm39)	missense	probably damaging	0.99
R5078:Tll1	UTSW	8	64,546,921 (GRCm39)	missense	probably damaging	1.00
R5208:Tll1	UTSW	8	64,504,527 (GRCm39)	missense	probably damaging	0.99
R5283:Tll1	UTSW	8	64,555,000 (GRCm39)	missense	possibly damaging	0.68
R5399:Tll1	UTSW	8	64,538,522 (GRCm39)	missense	probably damaging	1.00
R5699:Tll1	UTSW	8	64,570,974 (GRCm39)	missense	probably damaging	0.98
R5986:Tll1	UTSW	8	64,527,297 (GRCm39)	missense	probably damaging	0.99
R6019:Tll1	UTSW	8	64,494,525 (GRCm39)	missense	possibly damaging	0.83
R6046:Tll1	UTSW	8	64,506,925 (GRCm39)	nonsense	probably null
R6083:Tll1	UTSW	8	64,491,620 (GRCm39)	splice site	probably null
R6125:Tll1	UTSW	8	64,504,521 (GRCm39)	missense	probably damaging	1.00
R6222:Tll1	UTSW	8	64,551,568 (GRCm39)	missense	probably benign	0.18
R6275:Tll1	UTSW	8	64,504,401 (GRCm39)	nonsense	probably null
R6508:Tll1	UTSW	8	64,551,494 (GRCm39)	missense	probably damaging	0.99
R6758:Tll1	UTSW	8	64,494,439 (GRCm39)	critical splice donor site	probably null
R6782:Tll1	UTSW	8	64,524,315 (GRCm39)	missense	probably benign	0.00
R6848:Tll1	UTSW	8	64,551,544 (GRCm39)	missense	probably damaging	0.99
R7057:Tll1	UTSW	8	64,554,915 (GRCm39)	missense	probably damaging	1.00
R7144:Tll1	UTSW	8	64,577,979 (GRCm39)	missense	possibly damaging	0.90
R7244:Tll1	UTSW	8	64,478,222 (GRCm39)	missense	probably benign	0.00
R7336:Tll1	UTSW	8	64,478,176 (GRCm39)	missense	probably damaging	0.98
R7373:Tll1	UTSW	8	64,504,391 (GRCm39)	missense	probably damaging	0.98
R7626:Tll1	UTSW	8	64,551,268 (GRCm39)	splice site	probably null
R7687:Tll1	UTSW	8	64,574,526 (GRCm39)	nonsense	probably null
R7699:Tll1	UTSW	8	64,546,988 (GRCm39)	missense	probably benign	0.00
R7700:Tll1	UTSW	8	64,546,988 (GRCm39)	missense	probably benign	0.00
R7765:Tll1	UTSW	8	64,504,483 (GRCm39)	missense	probably damaging	1.00
R7790:Tll1	UTSW	8	64,478,271 (GRCm39)	nonsense	probably null
R7954:Tll1	UTSW	8	64,571,568 (GRCm39)	missense	probably damaging	1.00
R8710:Tll1	UTSW	8	64,577,940 (GRCm39)	missense	possibly damaging	0.77
R8792:Tll1	UTSW	8	64,538,499 (GRCm39)	missense	probably damaging	1.00
R9134:Tll1	UTSW	8	64,469,201 (GRCm39)	missense	possibly damaging	0.91
R9444:Tll1	UTSW	8	64,469,123 (GRCm39)	missense	probably damaging	1.00
R9539:Tll1	UTSW	8	64,494,457 (GRCm39)	missense	probably damaging	1.00
X0020:Tll1	UTSW	8	64,470,662 (GRCm39)	missense	probably damaging	0.97
Z1176:Tll1	UTSW	8	64,500,197 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06