Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Lmbr1l'

426527

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

1110013E13Rik, D15Ertd735e

MMRRC Submission

042979-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98903917-98918231 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98909262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 213 (T213A)

Ref Sequence

ENSEMBL: ENSMUSP00000023736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023736] [ENSMUST00000109127]

AlphaFold

Q9D1E5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023736
AA Change: T213A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: T213A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109127

SMART Domains

Protein: ENSMUSP00000104755
Gene: ENSMUSG00000022999

Domain	Start	End	E-Value	Type
Pfam:LMBR1	1	324	6.3e-110	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231087

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,126,473		noncoding transcript	Het
Adam24	A	G	8: 40,681,064	M524V	probably benign	Het
Adamts20	T	A	15: 94,281,957	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,611,237	I1350L	probably damaging	Het
Arhgap17	A	G	7: 123,297,493		probably null	Het
Ascl5	A	T	1: 136,051,188	I129F	probably damaging	Het
AU040320	A	T	4: 126,823,716	H362L	possibly damaging	Het
Bpifb9a	A	T	2: 154,270,235	N564Y	probably benign	Het
Cdon	G	T	9: 35,470,035	D574Y	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Ces1e	T	A	8: 93,210,442	I334F	possibly damaging	Het
Clip2	G	A	5: 134,522,791	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,278,353	T195S	probably benign	Het
Csmd2	C	A	4: 128,548,819	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,699,284	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,547,448	T696M	probably benign	Het
Ep300	T	C	15: 81,648,854	M1704T	unknown	Het
Exoc2	A	G	13: 30,864,856	F738S	probably damaging	Het
Fis1	A	G	5: 136,965,566	E36G	probably damaging	Het
Galnt1	A	G	18: 24,267,547	I237V	probably benign	Het
Gspt1	A	T	16: 11,230,510	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hykk	G	A	9: 54,946,066	C224Y	probably damaging	Het
Ifi211	T	C	1: 173,906,263	T111A	probably benign	Het
Il17rd	T	C	14: 27,095,911	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,091,366	N539K	probably benign	Het
Madd	C	T	2: 91,154,514	R1318Q	probably damaging	Het
Mecom	C	A	3: 29,997,721	A182S	probably benign	Het
Olfr1305	C	T	2: 111,873,292	A188T	probably damaging	Het
Olfr20	C	T	11: 73,353,806	P18S	probably benign	Het
Olfr272	C	A	4: 52,910,991	A268S	probably benign	Het
Olfr67	A	T	7: 103,787,374	V301E	probably damaging	Het
Otud4	T	A	8: 79,672,997	M780K	probably benign	Het
Pdia5	A	G	16: 35,453,536	V130A	probably damaging	Het
Phldb2	T	A	16: 45,825,612	H202L	possibly damaging	Het
Ppig	G	A	2: 69,735,897	G136E	probably null	Het
Prr14l	C	A	5: 32,827,777	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,188,330	V182A	possibly damaging	Het
Rai14	A	G	15: 10,574,938	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,497,047	I115T	probably benign	Het
Rc3h1	G	T	1: 160,964,963	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,918,291	Q21L	probably benign	Het
Rfx8	A	G	1: 39,710,156		probably null	Het
Scap	A	G	9: 110,374,182		probably null	Het
Shank1	T	A	7: 44,351,822	S988R	unknown	Het
Slc16a14	T	A	1: 84,907,424	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,281,368		probably null	Het
Tab2	T	C	10: 7,919,821	H225R	possibly damaging	Het
Tbx19	T	A	1: 165,160,372	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,530,106	I268K	probably damaging	Het
Tox2	A	G	2: 163,320,373	M388V	probably benign	Het
Trbv17	T	C	6: 41,163,538	L109P	probably damaging	Het
Trim72	A	G	7: 128,009,923	H299R	probably damaging	Het
Vmn1r63	C	T	7: 5,803,190	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,225,258	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,521,231	V724A	probably benign	Het
Zscan10	T	C	17: 23,610,421	F569L	probably damaging	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
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
R7974:Lmbr1l	UTSW	15	98911619	missense	probably benign	0.03
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'- CTGTGTTCTGACCAACTCCAG -3'
(R):5'- GCAAGACAAGTTGACATGGC -3'

Sequencing Primer
(F):5'- GTGTTCTGACCAACTCCAGATGATG -3'
(R):5'- AGACTTCTGGGAGTACTACCTC -3'

Posted On

2016-09-01