Mutagenetix > Incidental Mutation

Incidental Mutation 'R7244:Tll1'

563417

Institutional Source

Beutler Lab

Gene Symbol

Tll1

Ensembl Gene

ENSMUSG00000053626

Gene Name

tolloid-like

Synonyms

Tll-1, b2b2476Clo

MMRRC Submission

045308-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7244 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64467965-64659305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64478222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 844 (I844V)

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: I844V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000070560
Gene: ENSMUSG00000053626
AA Change: I844V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (45/47)

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
Adgrb3	A	G	1: 25,170,350 (GRCm39)	F983L	probably damaging	Het
Cc2d1b	T	A	4: 108,486,799 (GRCm39)	M632K	probably benign	Het
Cdyl2	G	A	8: 117,301,999 (GRCm39)	R461*	probably null	Het
Cfap57	G	A	4: 118,411,997 (GRCm39)	Q1216*	probably null	Het
Chd1l	A	T	3: 97,505,066 (GRCm39)	V167E	probably damaging	Het
Col6a1	C	A	10: 76,553,242 (GRCm39)	G391*	probably null	Het
Ctsc	C	A	7: 87,951,430 (GRCm39)	Q226K	probably benign	Het
Cyp2c54	A	G	19: 40,035,953 (GRCm39)	V319A	probably damaging	Het
Dnah7b	T	C	1: 46,316,303 (GRCm39)	S3139P	probably damaging	Het
Edrf1	T	C	7: 133,256,079 (GRCm39)	S643P	probably benign	Het
Fam186a	A	T	15: 99,844,273 (GRCm39)	V657D	unknown	Het
Fkbp11	A	G	15: 98,626,073 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,823,607 (GRCm39)	A6447T	possibly damaging	Het
H2-T9	C	A	17: 36,438,496 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,276,307 (GRCm39)	D3017G	probably damaging	Het
Ifi205	G	A	1: 173,845,210 (GRCm39)	Q191*	probably null	Het
Mbd4	C	T	6: 115,821,564 (GRCm39)	D484N	probably benign	Het
Med24	C	T	11: 98,605,223 (GRCm39)		probably null	Het
Mis18bp1	T	C	12: 65,208,404 (GRCm39)	N103S	probably damaging	Het
Mmd2	T	C	5: 142,550,587 (GRCm39)	H217R	probably damaging	Het
Mn1	C	T	5: 111,566,699 (GRCm39)	T223M	possibly damaging	Het
Ms4a4a	A	G	19: 11,358,794 (GRCm39)	Y84C	probably damaging	Het
Mup5	A	T	4: 61,749,818 (GRCm39)		probably null	Het
Mybl2	C	T	2: 162,924,605 (GRCm39)	P658S	probably benign	Het
Mycbp2	C	A	14: 103,446,345 (GRCm39)	V1828L	probably damaging	Het
Myh15	T	C	16: 49,017,149 (GRCm39)	Y1887H	probably damaging	Het
Nadk2	A	G	15: 9,083,271 (GRCm39)		probably null	Het
Nsd3	A	G	8: 26,156,055 (GRCm39)	N541D	probably damaging	Het
Or52e8b	A	G	7: 104,674,148 (GRCm39)	V13A	probably benign	Het
Or52i2	G	T	7: 102,319,046 (GRCm39)		probably benign	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Pcdha11	A	T	18: 37,144,421 (GRCm39)	R171*	probably null	Het
Pkd1l1	A	T	11: 8,821,771 (GRCm39)	V1641E		Het
Pramel28	A	T	4: 143,692,455 (GRCm39)	M182K	probably benign	Het
Prom1	T	A	5: 44,178,242 (GRCm39)	I497L	probably benign	Het
Rasgef1b	T	C	5: 99,706,753 (GRCm39)	K41E	possibly damaging	Het
Rasgrf1	T	C	9: 89,876,810 (GRCm39)	F725S	probably damaging	Het
Ryr2	T	A	13: 11,612,032 (GRCm39)	S3962C	probably damaging	Het
Sema5b	A	T	16: 35,480,915 (GRCm39)	T829S	probably benign	Het
Tdp2	A	G	13: 25,025,284 (GRCm39)	D351G	probably benign	Het
Tet3	A	T	6: 83,347,603 (GRCm39)	D1130E	probably damaging	Het
Tg	T	C	15: 66,612,563 (GRCm39)	C1993R	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Vmn2r109	A	G	17: 20,760,945 (GRCm39)	V804A	possibly damaging	Het
Vps13c	T	C	9: 67,797,086 (GRCm39)	V491A	probably benign	Het
Xpo5	G	T	17: 46,525,551 (GRCm39)	G233C	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCATGGAACCTTTAGTTTATACGC -3'
(R):5'- ATAAGCCTTCAATTATGTGCTCCTTG -3'

Sequencing Primer
(F):5'- TTGCTGACCTGTGGAATG -3'
(R):5'- AATTATGTGCTCCTTGGCTTAATTC -3'

Posted On

2019-06-26