Mutagenetix > Incidental Mutation

Incidental Mutation 'R7603:Lmbr1l'

588135

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

1110013E13Rik, D15Ertd735e

MMRRC Submission

045713-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98903917-98918231 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 98908691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 280 (Q280*)

Ref Sequence

ENSEMBL: ENSMUSP00000023736 (fasta)

Gene Model

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

AlphaFold

Q9D1E5

Predicted Effect

probably null
Transcript: ENSMUST00000023736
AA Change: Q280*

SMART Domains

Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: Q280*

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

0.9755

Coding Region Coverage

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

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	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
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
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'- GTACCAAGGTCCCACTTACTC -3'
(R):5'- GCTCTGACTCGAAGAATCTGC -3'

Sequencing Primer
(F):5'- GCATGTGAACCCACCGTCAG -3'
(R):5'- TGCAGTGAGTCTAAATCCGC -3'

Posted On

2019-10-24