Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02378:Tll1'

291211

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 #

IGL02378

Quality Score

Status

Chromosome

Chromosomal Location

64467965-64659305 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 64470660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 921 (L921*)

Ref Sequence

ENSEMBL: ENSMUSP00000070560 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000066166
AA Change: L921*

SMART Domains

Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: L921*

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,080,424 (GRCm39)	T414I	probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acer2	A	T	4: 86,804,491 (GRCm39)	T69S	probably benign	Het
Adcy2	A	G	13: 68,878,411 (GRCm39)	V409A	probably damaging	Het
Anks3	T	A	16: 4,768,626 (GRCm39)	Y239F	possibly damaging	Het
Arhgap42	G	A	9: 9,035,584 (GRCm39)	H253Y	possibly damaging	Het
Asb18	A	T	1: 89,920,710 (GRCm39)	L189Q	probably damaging	Het
C3	T	C	17: 57,519,698 (GRCm39)	R1185G	probably benign	Het
Cdca7l	T	A	12: 117,835,862 (GRCm39)	V66E	possibly damaging	Het
Cdrt4	G	T	11: 62,883,534 (GRCm39)	E79*	probably null	Het
Cep57	A	C	9: 13,732,842 (GRCm39)	Y34*	probably null	Het
Cep63	A	T	9: 102,473,314 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,144,721 (GRCm39)	I516K	possibly damaging	Het
Dnah10	A	G	5: 124,850,131 (GRCm39)	E1551G	probably damaging	Het
Dysf	T	C	6: 84,088,887 (GRCm39)	I843T	probably damaging	Het
Gabra1	C	A	11: 42,031,082 (GRCm39)	V283F	probably damaging	Het
Hcfc2	T	C	10: 82,544,905 (GRCm39)	I179T	possibly damaging	Het
Htr2c	G	A	X: 145,976,755 (GRCm39)		probably benign	Het
Irgc	G	A	7: 24,131,500 (GRCm39)	T439I	probably benign	Het
Itgae	T	A	11: 73,008,947 (GRCm39)	L476H	probably benign	Het
Jarid2	A	C	13: 45,067,801 (GRCm39)	K1070T	probably damaging	Het
Lama2	A	G	10: 26,919,652 (GRCm39)	I2193T	probably damaging	Het
Med19	A	G	2: 84,515,625 (GRCm39)	E103G	probably damaging	Het
Nav1	C	T	1: 135,397,716 (GRCm39)	D818N	probably benign	Het
Nom1	G	T	5: 29,656,124 (GRCm39)	E830*	probably null	Het
Or10g9b	T	G	9: 39,917,769 (GRCm39)	T159P	probably damaging	Het
Or5b98	A	C	19: 12,931,747 (GRCm39)	S265R	probably benign	Het
Orai3	G	T	7: 127,369,333 (GRCm39)	R58L	probably damaging	Het
Osbpl8	T	A	10: 111,118,006 (GRCm39)	M583K	possibly damaging	Het
Pik3cb	A	T	9: 98,944,893 (GRCm39)	M624K	probably benign	Het
Rars2	G	A	4: 34,656,199 (GRCm39)	R451H	possibly damaging	Het
Rgs22	A	G	15: 36,103,951 (GRCm39)	L170P	probably benign	Het
Rps6kl1	C	A	12: 85,185,448 (GRCm39)	D417Y	probably damaging	Het
Senp6	A	G	9: 80,033,674 (GRCm39)	D106G	probably damaging	Het
Setx	C	T	2: 29,063,738 (GRCm39)		probably benign	Het
Sfswap	T	A	5: 129,616,668 (GRCm39)	Y371N	probably damaging	Het
Slc24a3	C	T	2: 145,360,322 (GRCm39)	R141C	possibly damaging	Het
Sorcs1	C	T	19: 50,171,109 (GRCm39)	W926*	probably null	Het
Steap4	A	G	5: 8,026,741 (GRCm39)	T235A	probably benign	Het
Tead2	T	A	7: 44,867,571 (GRCm39)		probably null	Het
Tnfrsf19	T	A	14: 61,208,451 (GRCm39)	T357S	probably benign	Het
Tnik	C	A	3: 28,692,608 (GRCm39)	S825*	probably null	Het
Vil1	T	A	1: 74,469,850 (GRCm39)		probably null	Het
Vmn2r106	T	C	17: 20,497,791 (GRCm39)	K483E	probably damaging	Het
Vwa5a	G	A	9: 38,645,266 (GRCm39)	M450I	probably benign	Het
Xirp2	C	T	2: 67,344,112 (GRCm39)	P2118S	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
IGL00767:Tll1	APN	8	64,524,355 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16