Mutagenetix > Incidental Mutations

Incidental Mutation 'R8454:Lmbr1l'

654957

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

1110013E13Rik, D15Ertd735e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8454 (G1)

Quality Score

207.009

Status

Not validated

Chromosome

Chromosomal Location

98903917-98918231 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98912476 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 85 (S85P)

Ref Sequence

ENSEMBL: ENSMUSP00000023736 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023736
AA Change: S85P

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

SMART Domains

Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: S85P

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: ENSMUST00000126159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135051

Meta Mutation Damage Score

0.9379

Coding Region Coverage

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,792,572	F493Y	probably benign	Het
Abcc10	C	A	17: 46,324,177	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,795,682		probably benign	Het
Agt	G	A	8: 124,564,103	T155M	probably benign	Het
Atp8b3	A	G	10: 80,525,799	V763A	probably benign	Het
Btn1a1	C	A	13: 23,464,250	V138L	probably benign	Het
Cd163	A	T	6: 124,328,965	N1109I	probably benign	Het
Cideb	T	A	14: 55,755,141	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,232,249	T126A	probably benign	Het
Dusp27	A	T	1: 166,108,133	N165K	probably damaging	Het
Elfn1	T	C	5: 139,971,471	Y77H	probably damaging	Het
Eml3	A	G	19: 8,934,994	H386R	probably damaging	Het
Fbxo21	A	G	5: 117,995,414	D413G	probably damaging	Het
Fkbp8	T	A	8: 70,531,763		probably null	Het
Fzd1	T	C	5: 4,757,336	Q82R	probably benign	Het
Gast	T	C	11: 100,336,568	L29P	probably benign	Het
Glb1l2	C	A	9: 26,806,417		probably benign	Het
Gm1110	C	G	9: 26,883,280	Q483H	probably benign	Het
Gm1110	T	A	9: 26,883,281	Q483L	probably benign	Het
Gm5737	T	A	7: 120,831,180	V420E	possibly damaging	Het
Gpc6	T	C	14: 116,925,979	L15P	probably damaging	Het
Hagh	C	A	17: 24,857,562	S161*	probably null	Het
Hrh1	A	G	6: 114,480,853	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,879,940	M100K	probably damaging	Het
Itgb8	A	T	12: 119,170,778	V518D	probably benign	Het
Krt82	T	C	15: 101,541,803	Y486C	probably damaging	Het
Met	A	G	6: 17,491,769	S177G	probably damaging	Het
Myl9	T	A	2: 156,781,128	I162N	possibly damaging	Het
Npat	T	A	9: 53,566,951	N973K	possibly damaging	Het
Olfr493	A	T	7: 108,346,682	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,768,137	D674V	possibly damaging	Het
Phtf1	T	A	3: 104,004,449	N702K	probably damaging	Het
Plaa	A	T	4: 94,569,477	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,458,098	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 84,965,147	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,848,553	Q685L	probably benign	Het
Ryr1	C	A	7: 29,015,717	G4661C	unknown	Het
Samd13	T	A	3: 146,646,402	M65L	probably benign	Het
Sec22c	A	G	9: 121,695,655	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,107,022	T431K	probably benign	Het
Sin3b	A	G	8: 72,741,480	M277V	probably benign	Het
Sis	T	C	3: 72,947,501	T468A	possibly damaging	Het
Slitrk3	T	C	3: 73,049,180	N753S	probably benign	Het
Slitrk6	C	A	14: 110,752,046	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,724	A478T	probably damaging	Het
Sugp1	C	A	8: 70,071,597	Y617*	probably null	Het
Tinag	T	C	9: 77,031,695	D167G	probably damaging	Het
Tk2	A	G	8: 104,241,114		probably null	Het
Tmem209	A	T	6: 30,489,309	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,887,486	H260R	probably benign	Het
Tnfrsf14	T	A	4: 154,926,655	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,287,983	D285E	probably benign	Het
Togaram2	C	G	17: 71,697,878	A310G	probably benign	Het
Trpv3	A	G	11: 73,291,622	Y544C	probably damaging	Het
Ttl	T	A	2: 129,066,184	V13D	probably damaging	Het
Usp40	A	T	1: 87,980,972	D602E	probably benign	Het
Vamp5	A	G	6: 72,370,393		probably benign	Het
Vmn2r65	T	A	7: 84,940,194	H838L	possibly damaging	Het
Wdr63	T	C	3: 146,097,227	K70E	probably damaging	Het
Zfp960	T	A	17: 17,088,199	Y392N	probably benign	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
morula	UTSW	15	98904791	missense	probably damaging	1.00
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
R7974:Lmbr1l	UTSW	15	98911619	missense	probably benign	0.03
R8354:Lmbr1l	UTSW	15	98912476	missense	probably damaging	1.00
R8504:Lmbr1l	UTSW	15	98912184	missense	probably damaging	0.97

Predicted Primers

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

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

Posted On

2020-10-20