Mutagenetix > Incidental Mutation

Incidental Mutation 'R7169:Lmbr1l'

558150

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

D15Ertd735e, 1110013E13Rik

MMRRC Submission

045229-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7169 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

98801798-98815944 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

ACTACAT to ACTACATGCTACAT at 98807075 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 benign
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

Coding Region Coverage

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

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,040,707 (GRCm39)	V870A	probably damaging	Het
Ahi1	T	G	10: 20,930,918 (GRCm39)	D919E	probably damaging	Het
Angptl6	T	A	9: 20,786,475 (GRCm39)	R390S	probably damaging	Het
Arhgef11	A	G	3: 87,634,755 (GRCm39)	I873V	possibly damaging	Het
BC024063	T	C	10: 81,946,293 (GRCm39)	Y638H	possibly damaging	Het
Brsk1	T	C	7: 4,718,403 (GRCm39)	S751P	probably benign	Het
Calhm5	T	A	10: 33,968,160 (GRCm39)	T298S	probably damaging	Het
Cdh20	G	A	1: 104,875,078 (GRCm39)	A287T	possibly damaging	Het
Clic3	G	A	2: 25,348,731 (GRCm39)	R237H	probably benign	Het
Cog6	G	T	3: 52,897,387 (GRCm39)	P562H	possibly damaging	Het
Csnk2a2	A	G	8: 96,215,006 (GRCm39)	Y24H		Het
Ctif	T	C	18: 75,605,087 (GRCm39)	D484G	probably damaging	Het
Cyria	A	G	12: 12,409,233 (GRCm39)	D71G	possibly damaging	Het
Dennd6b	A	T	15: 89,073,055 (GRCm39)	F161I	possibly damaging	Het
Dnah14	G	T	1: 181,529,930 (GRCm39)	V2235L	probably benign	Het
Dnah6	A	T	6: 73,015,729 (GRCm39)	V3636D	probably damaging	Het
Dpm1	A	T	2: 168,053,343 (GRCm39)	Y207*	probably null	Het
Eml3	A	G	19: 8,910,828 (GRCm39)	T227A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eppk1	C	A	15: 75,990,114 (GRCm39)	A2256S	probably benign	Het
Etnppl	A	T	3: 130,414,345 (GRCm39)	N80I	probably damaging	Het
Eya4	A	T	10: 23,031,845 (GRCm39)	N236K	probably benign	Het
Gm12886	T	G	4: 121,273,948 (GRCm39)	Q89H	probably damaging	Het
Gsdme	T	C	6: 50,204,358 (GRCm39)	T200A	probably benign	Het
Hipk1	C	T	3: 103,651,533 (GRCm39)	A1122T	probably benign	Het
Icos	A	G	1: 61,034,705 (GRCm39)	D176G	probably damaging	Het
Igkv5-43	T	A	6: 69,800,519 (GRCm39)	Y56F	probably damaging	Het
Il1r1	T	C	1: 40,332,519 (GRCm39)		probably null	Het
Ildr2	G	A	1: 166,135,503 (GRCm39)		probably null	Het
Ilf3	T	A	9: 21,306,722 (GRCm39)	H305Q	probably damaging	Het
Insrr	A	G	3: 87,715,901 (GRCm39)	H532R	probably benign	Het
Lratd1	A	G	12: 14,200,619 (GRCm39)	F36S	probably damaging	Het
Lrrc25	T	G	8: 71,070,437 (GRCm39)	S73A	probably benign	Het
Lrrn1	T	C	6: 107,544,565 (GRCm39)	L121P	probably damaging	Het
Ly6c1	C	A	15: 74,916,495 (GRCm39)	V116L	probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Mroh7	T	A	4: 106,548,836 (GRCm39)	D1009V	probably damaging	Het
Mybpc3	T	C	2: 90,948,524 (GRCm39)	V4A	possibly damaging	Het
Mycbp2	A	G	14: 103,497,636 (GRCm39)	S979P	possibly damaging	Het
Ntn5	C	T	7: 45,336,198 (GRCm39)	R210*	probably null	Het
Nuak1	T	C	10: 84,210,609 (GRCm39)	D493G	probably damaging	Het
Oprk1	T	A	1: 5,659,304 (GRCm39)	D11E	probably benign	Het
Or13a1	G	T	6: 116,471,025 (GRCm39)	A152S	probably benign	Het
Or4f14	A	G	2: 111,742,939 (GRCm39)	M112T	possibly damaging	Het
Or4k37	T	A	2: 111,158,943 (GRCm39)	Y60N	probably damaging	Het
Or56a41	T	C	7: 104,740,397 (GRCm39)	I150V	possibly damaging	Het
Pkd1l2	T	A	8: 117,767,574 (GRCm39)	T1239S	possibly damaging	Het
Pkm	A	G	9: 59,578,908 (GRCm39)	D296G	possibly damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pop5	T	A	5: 115,378,287 (GRCm39)	V77E	possibly damaging	Het
Ppp1r10	T	C	17: 36,240,365 (GRCm39)	S552P	probably damaging	Het
Rabggta	C	G	14: 55,958,358 (GRCm39)	R101P	probably damaging	Het
Rorc	A	T	3: 94,296,487 (GRCm39)	E243V	probably benign	Het
Setmar	C	A	6: 108,042,049 (GRCm39)	A3E	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc12a7	G	A	13: 73,932,679 (GRCm39)	V56M	probably benign	Het
Snph	T	A	2: 151,436,307 (GRCm39)	N207I	probably damaging	Het
Snx14	A	G	9: 88,280,362 (GRCm39)	V531A	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tlr3	A	T	8: 45,850,056 (GRCm39)	M871K	probably damaging	Het
Tnfrsf11a	A	T	1: 105,772,421 (GRCm39)	R569S	possibly damaging	Het
Trim66	A	G	7: 109,054,328 (GRCm39)	V1294A	probably benign	Het
Vldlr	G	A	19: 27,221,728 (GRCm39)	V698I	probably benign	Het
Vmn2r73	G	A	7: 85,507,663 (GRCm39)	Q550*	probably null	Het
Zdhhc5	A	T	2: 84,532,675 (GRCm39)		probably null	Het
Zfhx3	T	A	8: 109,678,030 (GRCm39)	Y3027N	possibly damaging	Het
Zfp663	C	T	2: 165,194,359 (GRCm39)	S620N	probably benign	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	98,807,039 (GRCm39)	frame shift	probably null
R7336:Lmbr1l	UTSW	15	98,811,468 (GRCm39)	missense	possibly damaging	0.94
R7541:Lmbr1l	UTSW	15	98,807,267 (GRCm39)	critical splice donor site	probably null
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'- TGACTCGTATGCACCATGCC -3'
(R):5'- CTTCTGGGTGAGTGTCAGAATC -3'

Sequencing Primer
(F):5'- ATGCCCAGCAGCTTGTAC -3'
(R):5'- GTGAGTGTCAGAATCTGGGAG -3'

Posted On

2019-06-26