Mutagenetix > Incidental Mutation

Incidental Mutation 'R5671:Lmbr1l'

500092

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

1110013E13Rik, D15Ertd735e

MMRRC Submission

043314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5671 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98903917-98918231 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 98907608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 337 (D337E)

Ref Sequence

ENSEMBL: ENSMUSP00000023736 (fasta)

Gene Model

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

AlphaFold

Q9D1E5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023736
AA Change: D337E

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: D337E

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: ENSMUST00000135051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231087

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4930444G20Rik	T	A	10: 22,066,843	T413S	possibly damaging	Het
A530099J19Rik	A	G	13: 19,729,295		noncoding transcript	Het
Ak2	T	A	4: 129,008,247	F238I	probably damaging	Het
Akap8l	T	C	17: 32,338,292	Y115C	probably damaging	Het
Alms1	T	A	6: 85,629,208	N2613K	possibly damaging	Het
Antxr1	C	T	6: 87,217,273		probably null	Het
Ap3b1	A	T	13: 94,528,257	R901S	unknown	Het
Arhgap45	A	G	10: 80,025,476	E491G	probably damaging	Het
Capn11	C	T	17: 45,639,674	R293Q	possibly damaging	Het
Cdx1	C	T	18: 61,019,899	V212I	probably benign	Het
Clca4b	G	A	3: 144,921,863	T449I	probably benign	Het
Clec14a	T	C	12: 58,267,826	I337V	probably benign	Het
Clip4	A	C	17: 71,789,883	M1L	probably damaging	Het
Exoc3l4	T	C	12: 111,423,417	I142T	probably damaging	Het
Flnb	T	A	14: 7,890,843	I575N	probably benign	Het
Gad1-ps	A	T	10: 99,444,533		noncoding transcript	Het
Golga7	C	T	8: 23,250,344	A57T	probably damaging	Het
Gpa33	A	G	1: 166,146,791	T66A	possibly damaging	Het
Gpr45	A	G	1: 43,033,058	Y287C	probably damaging	Het
H2-Eb1	C	A	17: 34,314,255	Y150*	probably null	Het
H2-Ke6	T	C	17: 34,026,461	D233G	probably null	Het
Ifna6	A	T	4: 88,827,669	Q85L	probably damaging	Het
Igkv9-120	G	A	6: 68,050,273	W57*	probably null	Het
Ivns1abp	G	T	1: 151,354,009	L149F	probably benign	Het
Kank4	A	G	4: 98,765,461		probably null	Het
Lama2	A	T	10: 27,190,544	C1114S	probably damaging	Het
Ly75	T	C	2: 60,308,311	D1404G	probably damaging	Het
Muc4	A	G	16: 32,753,720	T1199A	probably benign	Het
Nalcn	A	G	14: 123,295,406	I1314T	probably damaging	Het
Nhlrc1	A	G	13: 47,013,717	F355L	probably benign	Het
Olfr1285	C	T	2: 111,408,473		noncoding transcript	Het
Olfr1388	T	C	11: 49,444,313	V154A	probably benign	Het
Olfr1444	A	T	19: 12,861,807	T11S	probably benign	Het
Pcsk1	A	G	13: 75,097,907	T135A	possibly damaging	Het
Ptpru	T	A	4: 131,820,190	Y112F	possibly damaging	Het
Rbbp8	A	G	18: 11,742,642	S871G	probably benign	Het
Rhoj	A	T	12: 75,393,969	I135F	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Ska1	G	T	18: 74,196,996	D224E	probably damaging	Het
Slc11a2	A	G	15: 100,403,288	Y295H	probably damaging	Het
Slc22a28	A	T	19: 8,131,431	C116S	probably damaging	Het
Synpo	T	C	18: 60,595,950	D1060G	probably damaging	Het
Tectb	T	C	19: 55,192,627	S310P	probably benign	Het
Tmc6	A	G	11: 117,775,615	S288P	possibly damaging	Het
Tpo	A	G	12: 30,119,491	S82P	probably benign	Het
Ttyh3	T	A	5: 140,631,552	M321L	probably benign	Het
Usp8	A	G	2: 126,742,425	D518G	probably benign	Het
Vmn2r11	A	G	5: 109,054,906	W102R	probably benign	Het
Vps13a	G	A	19: 16,715,100	H817Y	probably benign	Het
Vps51	A	G	19: 6,068,194	V757A	probably benign	Het
Washc4	T	C	10: 83,570,028	S463P	probably damaging	Het
Zfp423	T	C	8: 87,782,327	N442S	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
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
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'- GCCCAAGTTAGATGAAGATATGTGG -3'
(R):5'- AGCAGGTGGATTGTCACGAG -3'

Sequencing Primer
(F):5'- ATGAAGATATGTGGCTGCCC -3'
(R):5'- AGAAGGCTGGATGGTCCTGGTGTTC -3'

Posted On

2017-12-01