Mutagenetix > Incidental Mutation

Incidental Mutation 'R8974:Lmbr1l'

683338

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

D15Ertd735e, 1110013E13Rik

MMRRC Submission

068808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98801798-98815944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98810408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 68 (C68R)

Ref Sequence

ENSEMBL: ENSMUSP00000023736 (fasta)

Gene Model

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

AlphaFold

Q9D1E5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023736
AA Change: C68R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: C68R

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

0.9272

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 13,143,716 (GRCm39)	V342A	probably damaging	Het
Acot4	T	C	12: 84,090,515 (GRCm39)	F404S	probably benign	Het
Alpk1	T	C	3: 127,473,580 (GRCm39)	T808A	probably benign	Het
Apba3	T	C	10: 81,109,032 (GRCm39)	V154A		Het
Arhgap27	A	T	11: 103,224,756 (GRCm39)	F476I	possibly damaging	Het
Asah2	A	T	19: 32,030,305 (GRCm39)	D122E	probably benign	Het
Asb10	T	C	5: 24,745,209 (GRCm39)	I47V	probably benign	Het
Catsperd	A	G	17: 56,959,525 (GRCm39)	T322A	possibly damaging	Het
Ccdc142	T	C	6: 83,078,963 (GRCm39)	V100A	probably benign	Het
Cdc5l	A	T	17: 45,715,621 (GRCm39)	C664S	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cep89	A	G	7: 35,097,493 (GRCm39)	S40G	probably damaging	Het
Csmd2	A	G	4: 128,446,380 (GRCm39)	K3315R		Het
Cyp2d34	T	C	15: 82,500,537 (GRCm39)	E434G	probably damaging	Het
Degs1	A	G	1: 182,107,278 (GRCm39)	Y30H	probably benign	Het
Eps8l1	A	G	7: 4,474,817 (GRCm39)	D266G	probably damaging	Het
Fam168a	A	T	7: 100,484,611 (GRCm39)	T234S	probably benign	Het
Fzd3	G	T	14: 65,472,440 (GRCm39)	Q443K	possibly damaging	Het
Galnt7	A	G	8: 58,105,934 (GRCm39)	S27P		Het
Gpr162	T	C	6: 124,837,876 (GRCm39)	D258G	probably damaging	Het
Hdac2	A	G	10: 36,862,340 (GRCm39)	Y68C	probably damaging	Het
Loxhd1	A	G	18: 77,518,899 (GRCm39)	T1902A	possibly damaging	Het
Lrrc4c	T	C	2: 97,459,992 (GRCm39)	M206T	probably damaging	Het
Lrrc75b	T	C	10: 75,389,848 (GRCm39)	T168A	probably benign	Het
Magi1	A	G	6: 93,674,223 (GRCm39)	F1003L	probably damaging	Het
Map1s	T	C	8: 71,366,994 (GRCm39)	L633P	probably damaging	Het
Mapk11	G	A	15: 89,028,014 (GRCm39)	T341I	probably benign	Het
Mycbp2	A	T	14: 103,361,857 (GRCm39)	V4441D	probably damaging	Het
Nin	T	C	12: 70,124,932 (GRCm39)	E130G		Het
Nod2	T	A	8: 89,390,433 (GRCm39)	Y247N	probably damaging	Het
Nudcd3	A	T	11: 6,143,163 (GRCm39)	V169E	probably benign	Het
Or2w2	A	T	13: 21,758,203 (GRCm39)	I141N	probably damaging	Het
Or51v15-ps1	T	C	7: 103,278,489 (GRCm39)	Y226C	unknown	Het
Or6c200-ps1	A	C	10: 128,869,905 (GRCm39)	C269G	probably damaging	Het
Pcdh9	A	C	14: 94,125,113 (GRCm39)	N352K	probably benign	Het
Pfpl	G	A	19: 12,405,839 (GRCm39)	G30D	probably damaging	Het
Pi15	A	G	1: 17,691,675 (GRCm39)	D159G	possibly damaging	Het
Plxna4	G	T	6: 32,216,447 (GRCm39)	R543S	possibly damaging	Het
Ppp1r12c	C	T	7: 4,486,698 (GRCm39)	E543K	probably damaging	Het
Prkdc	T	A	16: 15,617,726 (GRCm39)		probably null	Het
Proca1	T	C	11: 78,096,144 (GRCm39)	S172P	probably damaging	Het
Ralgapa1	C	A	12: 55,723,791 (GRCm39)	M1578I	probably benign	Het
Rnf103	C	A	6: 71,486,092 (GRCm39)	A241E	probably damaging	Het
Rorb	T	C	19: 18,955,070 (GRCm39)	D182G	probably benign	Het
Ryr3	T	C	2: 112,742,624 (GRCm39)	K485E	possibly damaging	Het
Sec24d	G	A	3: 123,099,498 (GRCm39)	D324N	probably damaging	Het
Serpina3f	T	A	12: 104,183,642 (GRCm39)	I168N	probably damaging	Het
Sidt1	A	T	16: 44,101,980 (GRCm39)	*62R	probably null	Het
Slc22a27	A	C	19: 7,903,751 (GRCm39)	S129A	probably damaging	Het
Spata31e1	T	C	13: 49,939,556 (GRCm39)	D718G	probably benign	Het
Stab1	A	G	14: 30,882,779 (GRCm39)	V408A	probably benign	Het
Svil	G	T	18: 5,099,650 (GRCm39)	G1729W	probably damaging	Het
Tbx20	A	G	9: 24,681,082 (GRCm39)	S137P	probably damaging	Het
Tcstv2c	T	A	13: 120,616,486 (GRCm39)	D108E	probably benign	Het
Trem2	G	A	17: 48,655,599 (GRCm39)	R52Q	probably damaging	Het
Trim55	T	C	3: 19,699,603 (GRCm39)	S112P	probably damaging	Het
Vmn1r172	A	T	7: 23,359,840 (GRCm39)	M242L	probably benign	Het
Vmn2r91	G	A	17: 18,325,636 (GRCm39)	A85T	probably benign	Het
Zc3h3	T	C	15: 75,657,452 (GRCm39)	T580A	probably benign	Het
Zfp451	A	G	1: 33,816,535 (GRCm39)	C472R	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
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

Predicted Primers

PCR Primer
(F):5'- TAAGAGCTGGTCATTGAGAGGC -3'
(R):5'- ATCCTGTGTGCCAAGGCTAC -3'

Sequencing Primer
(F):5'- TCATTGAGAGGCCGATCAAC -3'
(R):5'- TGTGCCAAGGCTACCCTGTAG -3'

Posted On

2021-10-11