Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00163:Tll1'

1393

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 #

IGL00163

Quality Score

Status

Chromosome

Chromosomal Location

64467965-64659305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64469170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 984 (H984Q)

Ref Sequence

ENSEMBL: ENSMUSP00000070560 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066166
AA Change: H984Q

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

SMART Domains

Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: H984Q

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,786,310 (GRCm39)	Q103*	probably null	Het
4933406P04Rik	C	A	10: 20,186,970 (GRCm39)		probably benign	Het
Adgrg6	T	C	10: 14,343,194 (GRCm39)	E251G	probably damaging	Het
Ago2	T	C	15: 72,998,302 (GRCm39)	H292R	probably benign	Het
Akr1c6	T	C	13: 4,498,977 (GRCm39)		probably benign	Het
Arhgap24	T	A	5: 103,008,265 (GRCm39)	M62K	possibly damaging	Het
Bicd1	A	G	6: 149,451,888 (GRCm39)	H834R	possibly damaging	Het
Ccdc77	G	T	6: 120,306,045 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,818,818 (GRCm39)	H337N	probably damaging	Het
Cep192	A	G	18: 68,013,871 (GRCm39)	T2424A	possibly damaging	Het
Cep78	T	C	19: 15,946,504 (GRCm39)	T443A	probably benign	Het
Chrna1	T	A	2: 73,400,986 (GRCm39)	E181D	probably benign	Het
Dmxl1	G	A	18: 49,984,534 (GRCm39)	D177N	probably damaging	Het
Eif3h	T	A	15: 51,650,195 (GRCm39)	I330F	probably damaging	Het
Fam184b	T	C	5: 45,697,091 (GRCm39)	E691G	probably benign	Het
Fastkd1	T	A	2: 69,537,893 (GRCm39)	S230C	probably benign	Het
Gipc2	T	C	3: 151,843,215 (GRCm39)	I141V	probably damaging	Het
Hsd17b2	A	T	8: 118,485,410 (GRCm39)	D291V	probably damaging	Het
Itpr2	G	A	6: 146,292,334 (GRCm39)	A420V	possibly damaging	Het
Jag1	C	T	2: 136,927,952 (GRCm39)		probably null	Het
Minar1	A	T	9: 89,473,150 (GRCm39)		probably benign	Het
Mmp1b	T	A	9: 7,387,946 (GRCm39)	Y16F	probably benign	Het
Muc4	G	T	16: 32,754,090 (GRCm38)	R1322M	probably benign	Het
Myo9b	T	C	8: 71,801,379 (GRCm39)	I1179T	probably benign	Het
Nos1ap	A	G	1: 170,342,175 (GRCm39)		probably benign	Het
Npc1l1	A	T	11: 6,174,199 (GRCm39)	V702E	probably damaging	Het
Or13d1	G	A	4: 52,971,058 (GRCm39)	V146M	possibly damaging	Het
Or1j21	A	G	2: 36,684,012 (GRCm39)	I255V	probably benign	Het
Or2ag17	T	A	7: 106,389,796 (GRCm39)	R137S	probably benign	Het
Or2y10	A	C	11: 49,454,747 (GRCm39)		probably benign	Het
Or4c31	A	T	2: 88,291,696 (GRCm39)	Y4F	probably benign	Het
Or4f7	A	C	2: 111,644,126 (GRCm39)		probably benign	Het
Osmr	A	T	15: 6,873,926 (GRCm39)	L157*	probably null	Het
Pdzph1	T	C	17: 59,281,791 (GRCm39)	T164A	possibly damaging	Het
Ptn	T	C	6: 36,720,424 (GRCm39)	K43E	probably benign	Het
Rbm45	T	C	2: 76,209,051 (GRCm39)	V340A	probably damaging	Het
Rnf5	C	T	17: 34,821,083 (GRCm39)	G83E	probably damaging	Het
Scin	G	T	12: 40,126,971 (GRCm39)	Q459K	probably benign	Het
Serpina5	C	A	12: 104,071,479 (GRCm39)	A362D	probably damaging	Het
Tex47	T	A	5: 7,355,468 (GRCm39)	Y216*	probably null	Het
Tmem259	A	G	10: 79,815,568 (GRCm39)	V81A	probably benign	Het
Tns3	A	T	11: 8,401,066 (GRCm39)	S1077R	probably benign	Het
Trgv3	G	A	13: 19,427,381 (GRCm39)	S88N	probably benign	Het
Ttc17	A	G	2: 94,153,428 (GRCm39)		probably benign	Het
Tubgcp2	T	C	7: 139,610,935 (GRCm39)	T149A	possibly damaging	Het
Ulk1	G	A	5: 110,935,738 (GRCm39)	A25V	probably damaging	Het
Vps13d	T	C	4: 144,895,110 (GRCm39)	E378G	probably damaging	Het
Vsig10	A	G	5: 117,476,479 (GRCm39)	N311S	probably benign	Het
Zfp511	T	C	7: 139,617,429 (GRCm39)	Y144H	possibly damaging	Het

Other mutations in Tll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-07-12