Mutagenetix > Incidental Mutation

Incidental Mutation 'R7541:Lmbr1l'

583908

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

D15Ertd735e, 1110013E13Rik

MMRRC Submission

045613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98801798-98815944 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 98807267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023736]

AlphaFold

Q9D1E5

Predicted Effect

probably null
Transcript: ENSMUST00000023736

SMART Domains

Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999

Domain	Start	End	E-Value	Type
Pfam:LMBR1	28	269	2e-41	PFAM
Pfam:LMBR1	266	450	1.2e-35	PFAM

Meta Mutation Damage Score

0.9576

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. [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
Acss2	G	A	2: 155,416,610 (GRCm39)		probably null	Het
Adamts10	G	A	17: 33,750,590 (GRCm39)	R210H	probably benign	Het
Als2	T	C	1: 59,206,775 (GRCm39)		probably null	Het
Aplp2	A	T	9: 31,063,652 (GRCm39)	M652K	possibly damaging	Het
Atrn	A	G	2: 130,803,491 (GRCm39)	I560M	possibly damaging	Het
Bicc1	T	C	10: 70,782,434 (GRCm39)	D602G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cd200l2	T	A	16: 45,348,855 (GRCm39)	T106S	possibly damaging	Het
Cdh4	A	G	2: 179,086,603 (GRCm39)		probably null	Het
Clasp1	T	A	1: 118,470,727 (GRCm39)		probably null	Het
Col6a6	A	G	9: 105,644,523 (GRCm39)	I1255T	probably damaging	Het
Comp	G	T	8: 70,834,000 (GRCm39)	V672L	probably damaging	Het
Dbnl	T	G	11: 5,745,486 (GRCm39)	D122E	probably damaging	Het
Dgkz	G	A	2: 91,773,020 (GRCm39)	R346C	probably damaging	Het
Dnhd1	C	T	7: 105,327,516 (GRCm39)	R54C	probably damaging	Het
Elmo3	T	C	8: 106,033,346 (GRCm39)	I121T	probably damaging	Het
Fam184b	A	G	5: 45,699,574 (GRCm39)	L614P	probably damaging	Het
Fbh1	T	C	2: 11,754,348 (GRCm39)	R797G	probably benign	Het
Fcgbpl1	T	A	7: 27,843,681 (GRCm39)	C856*	probably null	Het
Gata6	A	G	18: 11,059,108 (GRCm39)	T392A	probably damaging	Het
Gm29609	A	G	5: 31,311,576 (GRCm39)	F855S	probably benign	Het
Gm3424	T	C	14: 17,337,195 (GRCm39)	N88D	possibly damaging	Het
Gnas	T	A	2: 174,139,892 (GRCm39)	S80T	unknown	Het
Hsd17b14	C	A	7: 45,215,570 (GRCm39)	P190Q	probably damaging	Het
Iqch	C	T	9: 63,352,803 (GRCm39)	V955I	possibly damaging	Het
Kcnt2	T	C	1: 140,304,122 (GRCm39)	V164A	probably benign	Het
Krt87	A	G	15: 101,336,515 (GRCm39)	L46P	probably damaging	Het
Lef1	A	G	3: 130,984,748 (GRCm39)	M237V	probably benign	Het
Lrrc49	T	C	9: 60,517,686 (GRCm39)	I408V	probably damaging	Het
Luc7l3	T	C	11: 94,186,791 (GRCm39)	S365G	unknown	Het
Marchf2	A	T	17: 33,922,032 (GRCm39)	C109*	probably null	Het
Metrnl	T	A	11: 121,606,796 (GRCm39)	C284S	probably damaging	Het
Mmachc	G	A	4: 116,563,082 (GRCm39)	T91I	probably benign	Het
Mrps7	T	G	11: 115,497,696 (GRCm39)	M187R	probably damaging	Het
Ncapd3	A	G	9: 26,978,336 (GRCm39)	E845G	probably damaging	Het
Nscme3l	G	A	19: 5,553,439 (GRCm39)	P114L	probably benign	Het
Ooep	T	A	9: 78,285,347 (GRCm39)	T90S	possibly damaging	Het
Or13c25	A	T	4: 52,911,376 (GRCm39)	D139E	probably benign	Het
Or2y1g	T	A	11: 49,171,160 (GRCm39)	F62I	probably damaging	Het
Pcdhb18	A	T	18: 37,624,662 (GRCm39)	D664V	probably damaging	Het
Pigz	T	C	16: 31,763,949 (GRCm39)	S336P	probably benign	Het
Pou2f2	A	T	7: 24,815,553 (GRCm39)	D71E	probably benign	Het
Reep6	G	T	10: 80,171,033 (GRCm39)	R303L	possibly damaging	Het
Rmdn2	A	T	17: 79,935,297 (GRCm39)	S137C		Het
Rnf220	A	T	4: 117,347,127 (GRCm39)	L95H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Stxbp1	A	T	2: 32,708,517 (GRCm39)	S83T	probably damaging	Het
Tcstv7b	A	T	13: 120,702,515 (GRCm39)	M104L	probably benign	Het
Trappc11	T	C	8: 47,958,617 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,621,645 (GRCm39)	D15598E	probably damaging	Het
Vav2	T	A	2: 27,165,014 (GRCm39)	R645W	probably damaging	Het
Vmn1r169	T	A	7: 23,277,412 (GRCm39)	V268D	probably benign	Het
Zp2	A	T	7: 119,735,279 (GRCm39)	C365S	probably damaging	Het

Other mutations in Lmbr1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Lmbr1l	APN	15	98,802,666 (GRCm39)	missense	probably damaging	1.00
IGL02097:Lmbr1l	APN	15	98,815,772 (GRCm39)	missense	probably damaging	0.98
IGL02731:Lmbr1l	APN	15	98,815,777 (GRCm39)	missense	probably damaging	0.96
finch	UTSW	15	98,807,267 (GRCm39)	critical splice donor site	probably null
Gooseberry	UTSW	15	98,810,308 (GRCm39)	missense	probably damaging	0.99
junco	UTSW	15	98,810,408 (GRCm39)	missense	probably damaging	1.00
morula	UTSW	15	98,802,672 (GRCm39)	missense	probably damaging	1.00
munia	UTSW	15	98,807,150 (GRCm39)	critical splice acceptor site	probably null
strawberry	UTSW	15	98,807,144 (GRCm39)	nonsense	probably null
R0310:Lmbr1l	UTSW	15	98,806,654 (GRCm39)	splice site	probably benign
R1778:Lmbr1l	UTSW	15	98,810,357 (GRCm39)	missense	probably damaging	1.00
R2418:Lmbr1l	UTSW	15	98,805,418 (GRCm39)	missense	possibly damaging	0.89
R2419:Lmbr1l	UTSW	15	98,805,418 (GRCm39)	missense	possibly damaging	0.89
R4181:Lmbr1l	UTSW	15	98,806,601 (GRCm39)	missense	possibly damaging	0.94
R4379:Lmbr1l	UTSW	15	98,807,144 (GRCm39)	nonsense	probably null
R4472:Lmbr1l	UTSW	15	98,804,178 (GRCm39)	missense	probably benign	0.02
R5290:Lmbr1l	UTSW	15	98,810,123 (GRCm39)	missense	probably damaging	1.00
R5410:Lmbr1l	UTSW	15	98,807,143 (GRCm39)	missense	probably damaging	1.00
R5436:Lmbr1l	UTSW	15	98,802,672 (GRCm39)	missense	probably damaging	1.00
R5667:Lmbr1l	UTSW	15	98,805,489 (GRCm39)	missense	possibly damaging	0.88
R5671:Lmbr1l	UTSW	15	98,805,489 (GRCm39)	missense	possibly damaging	0.88
R5918:Lmbr1l	UTSW	15	98,810,308 (GRCm39)	missense	probably damaging	0.99
R6735:Lmbr1l	UTSW	15	98,807,121 (GRCm39)	missense	probably damaging	1.00
R6882:Lmbr1l	UTSW	15	98,805,467 (GRCm39)	missense	probably damaging	0.99
R7131:Lmbr1l	UTSW	15	98,804,204 (GRCm39)	missense	probably benign	0.05
R7136:Lmbr1l	UTSW	15	98,809,372 (GRCm39)	splice site	probably null
R7169:Lmbr1l	UTSW	15	98,807,075 (GRCm39)	critical splice donor site	probably benign
R7169:Lmbr1l	UTSW	15	98,807,039 (GRCm39)	frame shift	probably null
R7336:Lmbr1l	UTSW	15	98,811,468 (GRCm39)	missense	possibly damaging	0.94
R7603:Lmbr1l	UTSW	15	98,806,572 (GRCm39)	nonsense	probably null
R7974:Lmbr1l	UTSW	15	98,809,500 (GRCm39)	missense	probably benign	0.03
R8354:Lmbr1l	UTSW	15	98,810,357 (GRCm39)	missense	probably damaging	1.00
R8454:Lmbr1l	UTSW	15	98,810,357 (GRCm39)	missense	probably damaging	1.00
R8504:Lmbr1l	UTSW	15	98,810,065 (GRCm39)	missense	probably damaging	0.97
R8933:Lmbr1l	UTSW	15	98,807,150 (GRCm39)	critical splice acceptor site	probably null
R8974:Lmbr1l	UTSW	15	98,810,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAACTTCCCAGTGACAGAG -3'
(R):5'- GTGAGGATCCTTAGTGCACTC -3'

Sequencing Primer
(F):5'- TTCCCAGTGACAGAGAACATGCG -3'
(R):5'- ATCTGTAACTCTGGGCCAGCTG -3'

Posted On

2019-10-17