Mutagenetix > Incidental Mutation

Incidental Mutation 'R7974:Lmbr1l'

650802

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

1110013E13Rik, D15Ertd735e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98903917-98918231 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98911619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 147 (V147I)

Ref Sequence

ENSEMBL: ENSMUSP00000023736 (fasta)

Gene Model

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

AlphaFold

Q9D1E5

Predicted Effect

probably benign
Transcript: ENSMUST00000023736
AA Change: V147I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: V147I

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: 99.0%

Validation Efficiency

100% (64/64)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,044,973		probably null	Het
Adamts19	A	T	18: 59,011,022	Q892L	possibly damaging	Het
Adamts9	A	G	6: 92,909,687		probably null	Het
Aftph	T	C	11: 20,698,233	*686W	probably null	Het
AI661453	T	C	17: 47,466,081	L244P	unknown	Het
Ankar	C	A	1: 72,698,979	E15*	probably null	Het
Ankrd39	A	G	1: 36,546,918		probably benign	Het
Arsi	A	G	18: 60,912,406	D56G	probably damaging	Het
Blmh	T	C	11: 76,965,903	I245T	possibly damaging	Het
Ccr6	T	C	17: 8,256,224	F87S	probably damaging	Het
Cdc42ep2	T	C	19: 5,918,495	K61E	probably damaging	Het
Celsr1	C	T	15: 86,031,030	G914D	probably damaging	Het
Cep126	T	A	9: 8,120,763	K86N	probably benign	Het
Cfap70	A	T	14: 20,420,750	F532I	probably damaging	Het
Cpsf3	T	A	12: 21,308,005	L506Q	probably damaging	Het
Dct	A	C	14: 118,039,655	I273S	probably damaging	Het
Dsel	T	C	1: 111,860,499	I769V	probably benign	Het
Dus2	G	A	8: 106,036,020	E138K	probably benign	Het
Emsy	A	G	7: 98,630,218	S305P	possibly damaging	Het
Erp27	A	T	6: 136,908,065	V245D	probably damaging	Het
Fez1	C	A	9: 36,843,948	T81K	probably damaging	Het
Gli3	A	C	13: 15,726,256	Q1409H	probably benign	Het
Gm10696	T	C	3: 94,175,541	K321R	probably benign	Het
Hdac9	T	C	12: 34,303,220	S664G	possibly damaging	Het
Hibadh	A	G	6: 52,557,895	S167P	probably benign	Het
Hsdl1	A	G	8: 119,566,333	V121A	probably benign	Het
Ighv1-18	A	C	12: 114,683,049	I6S	possibly damaging	Het
Iqcm	T	A	8: 75,554,892	M1K	probably null	Het
Itch	T	C	2: 155,192,159	F417S	probably damaging	Het
Itpr1	C	T	6: 108,523,405	T2653I	possibly damaging	Het
Kank1	T	G	19: 25,424,220	Y1064D	probably damaging	Het
Kmt2c	T	C	5: 25,300,563	Q3249R	probably damaging	Het
Lefty1	T	C	1: 180,937,820	C318R	probably damaging	Het
Meig1	C	A	2: 3,411,874	E37*	probably null	Het
Mpp3	A	G	11: 102,008,354		probably null	Het
Muc3	T	C	5: 137,146,816	N2S		Het
Mup7	T	C	4: 60,067,518	E199G	possibly damaging	Het
Nol4	G	C	18: 22,719,025	Y275*	probably null	Het
Nrxn1	G	A	17: 90,700,779	P429S	probably damaging	Het
Olfr761	T	C	17: 37,952,781	Y81C	probably damaging	Het
Pfkl	A	T	10: 77,994,162	F367L	probably damaging	Het
Pik3cg	T	C	12: 32,204,032	E652G	probably benign	Het
Prkag3	A	G	1: 74,744,821	I301T	probably benign	Het
Rcn1	G	A	2: 105,393,710	P163L	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc37a2	A	T	9: 37,239,125		probably null	Het
Slc9b1	C	T	3: 135,394,030	T437I	possibly damaging	Het
Smap1	T	G	1: 23,849,441	T248P	probably benign	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Spata20	T	C	11: 94,484,140	N212S	possibly damaging	Het
Sphkap	A	C	1: 83,278,962	C355W	probably damaging	Het
Spsb1	T	A	4: 149,907,109	M1L	probably damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stxbp5	A	C	10: 9,770,695		probably null	Het
Taar5	G	C	10: 23,971,222	D173H	possibly damaging	Het
Tfrc	A	G	16: 32,621,283	D438G	probably null	Het
Tinag	A	T	9: 76,999,849	I368K	probably benign	Het
Tm9sf1	A	G	14: 55,636,449	W531R	probably damaging	Het
Tnc	G	T	4: 64,000,724	P1154Q	possibly damaging	Het
Toporsl	A	G	4: 52,611,645	R513G	probably damaging	Het
Ttc30a1	T	C	2: 75,980,344	H465R	probably damaging	Het
Vat1	A	G	11: 101,466,130	S2P	probably benign	Het
Vmn2r107	C	G	17: 20,357,008	P423A	probably benign	Het
Vmn2r2	T	A	3: 64,117,387	E591V	probably damaging	Het
Vmn2r62	G	A	7: 42,764,607	T804I	probably damaging	Het
Vmn2r62	T	A	7: 42,787,857	Y401F	probably damaging	Het
Vmn2r89	A	T	14: 51,456,002	I270F	probably damaging	Het
Zfp418	T	C	7: 7,182,168	F377L	possibly damaging	Het
Zkscan5	T	C	5: 145,207,692	S182P	unknown	Het

Other mutations in Lmbr1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Lmbr1l	APN	15	98904785	missense	probably damaging	1.00
IGL02097:Lmbr1l	APN	15	98917891	missense	probably damaging	0.98
IGL02731:Lmbr1l	APN	15	98917896	missense	probably damaging	0.96
finch	UTSW	15	98909386	critical splice donor site	probably null
Gooseberry	UTSW	15	98912427	missense	probably damaging	0.99
junco	UTSW	15	98912527	missense	probably damaging	1.00
morula	UTSW	15	98904791	missense	probably damaging	1.00
munia	UTSW	15	98909269	critical splice acceptor site	probably null
strawberry	UTSW	15	98909263	nonsense	probably null
R0310:Lmbr1l	UTSW	15	98908773	splice site	probably benign
R1778:Lmbr1l	UTSW	15	98912476	missense	probably damaging	1.00
R2418:Lmbr1l	UTSW	15	98907537	missense	possibly damaging	0.89
R2419:Lmbr1l	UTSW	15	98907537	missense	possibly damaging	0.89
R4181:Lmbr1l	UTSW	15	98908720	missense	possibly damaging	0.94
R4379:Lmbr1l	UTSW	15	98909263	nonsense	probably null
R4472:Lmbr1l	UTSW	15	98906297	missense	probably benign	0.02
R5290:Lmbr1l	UTSW	15	98912242	missense	probably damaging	1.00
R5410:Lmbr1l	UTSW	15	98909262	missense	probably damaging	1.00
R5436:Lmbr1l	UTSW	15	98904791	missense	probably damaging	1.00
R5667:Lmbr1l	UTSW	15	98907608	missense	possibly damaging	0.88
R5671:Lmbr1l	UTSW	15	98907608	missense	possibly damaging	0.88
R5918:Lmbr1l	UTSW	15	98912427	missense	probably damaging	0.99
R6735:Lmbr1l	UTSW	15	98909240	missense	probably damaging	1.00
R6882:Lmbr1l	UTSW	15	98907586	missense	probably damaging	0.99
R7131:Lmbr1l	UTSW	15	98906323	missense	probably benign	0.05
R7136:Lmbr1l	UTSW	15	98911491	splice site	probably null
R7169:Lmbr1l	UTSW	15	98909158	frame shift	probably null
R7169:Lmbr1l	UTSW	15	98909194	critical splice donor site	probably benign
R7336:Lmbr1l	UTSW	15	98913587	missense	possibly damaging	0.94
R7541:Lmbr1l	UTSW	15	98909386	critical splice donor site	probably null
R7603:Lmbr1l	UTSW	15	98908691	nonsense	probably null
R8354:Lmbr1l	UTSW	15	98912476	missense	probably damaging	1.00
R8454:Lmbr1l	UTSW	15	98912476	missense	probably damaging	1.00
R8504:Lmbr1l	UTSW	15	98912184	missense	probably damaging	0.97
R8933:Lmbr1l	UTSW	15	98909269	critical splice acceptor site	probably null
R8974:Lmbr1l	UTSW	15	98912527	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGATGAGGACAGCTTGAAAC -3'
(R):5'- TAGTGCTGCCAAAATCAGGAG -3'

Sequencing Primer
(F):5'- GCTTGAAACCTCTGAAGCTG -3'
(R):5'- CTGCCAAAATCAGGAGGAGGC -3'

Posted On

2020-09-15