Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:Lmbr1l'

645711

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

D15Ertd735e, 1110013E13Rik

MMRRC Submission

067806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8354 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98801798-98815944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98810357 bp (GRCm39)

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]

AlphaFold

Q9D1E5

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: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,635,103 (GRCm39)	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,616,045 (GRCm39)		probably benign	Het
Agt	G	A	8: 125,290,842 (GRCm39)	T155M	probably benign	Het
Atp8b3	A	G	10: 80,361,633 (GRCm39)	V763A	probably benign	Het
Btn1a1	C	A	13: 23,648,420 (GRCm39)	V138L	probably benign	Het
Cd163	A	T	6: 124,305,924 (GRCm39)	N1109I	probably benign	Het
Cideb	T	A	14: 55,992,598 (GRCm39)	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,130,130 (GRCm39)	T126A	probably benign	Het
Dnai3	T	C	3: 145,802,982 (GRCm39)	K70E	probably damaging	Het
Elfn1	T	C	5: 139,957,226 (GRCm39)	Y77H	probably damaging	Het
Eml3	A	G	19: 8,912,358 (GRCm39)	H386R	probably damaging	Het
Fbxo21	A	G	5: 118,133,479 (GRCm39)	D413G	probably damaging	Het
Fzd1	T	C	5: 4,807,336 (GRCm39)	Q82R	probably benign	Het
Gast	T	C	11: 100,227,394 (GRCm39)	L29P	probably benign	Het
Glb1l2	C	A	9: 26,717,713 (GRCm39)		probably benign	Het
Gm1110	C	G	9: 26,794,576 (GRCm39)	Q483H	probably benign	Het
Gm1110	T	A	9: 26,794,577 (GRCm39)	Q483L	probably benign	Het
Gpc6	T	C	14: 117,163,391 (GRCm39)	L15P	probably damaging	Het
Hagh	C	A	17: 25,076,536 (GRCm39)	S161*	probably null	Het
Hrh1	A	G	6: 114,457,814 (GRCm39)	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,843,560 (GRCm39)	M100K	probably damaging	Het
Itgb8	A	T	12: 119,134,513 (GRCm39)	V518D	probably benign	Het
Krt82	T	C	15: 101,450,238 (GRCm39)	Y486C	probably damaging	Het
Met	A	G	6: 17,491,768 (GRCm39)	S177G	probably damaging	Het
Myl9	T	A	2: 156,623,048 (GRCm39)	I162N	possibly damaging	Het
Npat	T	A	9: 53,478,251 (GRCm39)	N973K	possibly damaging	Het
Or5p68	A	T	7: 107,945,889 (GRCm39)	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,901,190 (GRCm39)	D674V	possibly damaging	Het
Phtf1	T	A	3: 103,911,765 (GRCm39)	N702K	probably damaging	Het
Plaa	A	T	4: 94,457,714 (GRCm39)	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,038,011 (GRCm39)	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 85,691,776 (GRCm39)	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,575,864 (GRCm39)	Q685L	probably benign	Het
Ryr1	C	A	7: 28,715,142 (GRCm39)	G4661C	unknown	Het
Samd13	T	A	3: 146,352,157 (GRCm39)	M65L	probably benign	Het
Sdr42e2	T	A	7: 120,430,403 (GRCm39)	V420E	possibly damaging	Het
Sec22c	A	G	9: 121,524,721 (GRCm39)	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,014,329 (GRCm39)	T431K	probably benign	Het
Sin3b	A	G	8: 73,468,108 (GRCm39)	M277V	probably benign	Het
Sis	T	C	3: 72,854,834 (GRCm39)	T468A	possibly damaging	Het
Slitrk3	T	C	3: 72,956,513 (GRCm39)	N753S	probably benign	Het
Slitrk6	C	A	14: 110,989,478 (GRCm39)	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,870 (GRCm39)	A478T	probably damaging	Het
Styxl2	A	T	1: 165,935,702 (GRCm39)	N165K	probably damaging	Het
Sugp1	C	A	8: 70,524,247 (GRCm39)	Y617*	probably null	Het
Tinag	T	C	9: 76,938,977 (GRCm39)	D167G	probably damaging	Het
Tk2	A	G	8: 104,967,746 (GRCm39)		probably null	Het
Tmem209	A	T	6: 30,489,308 (GRCm39)	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,723,320 (GRCm39)	H260R	probably benign	Het
Tnfrsf14	T	A	4: 155,011,112 (GRCm39)	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,014,553 (GRCm39)	D285E	probably benign	Het
Togaram2	C	G	17: 72,004,873 (GRCm39)	A310G	probably benign	Het
Trpv3	A	G	11: 73,182,448 (GRCm39)	Y544C	probably damaging	Het
Ttl	T	A	2: 128,908,104 (GRCm39)	V13D	probably damaging	Het
Usp40	A	T	1: 87,908,694 (GRCm39)	D602E	probably benign	Het
Vamp5	A	G	6: 72,347,376 (GRCm39)		probably benign	Het
Vmn2r65	T	A	7: 84,589,402 (GRCm39)	H838L	possibly damaging	Het
Vps35l	T	A	7: 118,391,795 (GRCm39)	F493Y	probably benign	Het
Zfp960	T	A	17: 17,308,461 (GRCm39)	Y392N	probably benign	Het

Other mutations in Lmbr1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Lmbr1l	APN	15	98,802,666 (GRCm39)	missense	probably damaging	1.00
IGL02097:Lmbr1l	APN	15	98,815,772 (GRCm39)	missense	probably damaging	0.98
IGL02731:Lmbr1l	APN	15	98,815,777 (GRCm39)	missense	probably damaging	0.96
finch	UTSW	15	98,807,267 (GRCm39)	critical splice donor site	probably null
Gooseberry	UTSW	15	98,810,308 (GRCm39)	missense	probably damaging	0.99
junco	UTSW	15	98,810,408 (GRCm39)	missense	probably damaging	1.00
morula	UTSW	15	98,802,672 (GRCm39)	missense	probably damaging	1.00
munia	UTSW	15	98,807,150 (GRCm39)	critical splice acceptor site	probably null
strawberry	UTSW	15	98,807,144 (GRCm39)	nonsense	probably null
R0310:Lmbr1l	UTSW	15	98,806,654 (GRCm39)	splice site	probably benign
R1778:Lmbr1l	UTSW	15	98,810,357 (GRCm39)	missense	probably damaging	1.00
R2418:Lmbr1l	UTSW	15	98,805,418 (GRCm39)	missense	possibly damaging	0.89
R2419:Lmbr1l	UTSW	15	98,805,418 (GRCm39)	missense	possibly damaging	0.89
R4181:Lmbr1l	UTSW	15	98,806,601 (GRCm39)	missense	possibly damaging	0.94
R4379:Lmbr1l	UTSW	15	98,807,144 (GRCm39)	nonsense	probably null
R4472:Lmbr1l	UTSW	15	98,804,178 (GRCm39)	missense	probably benign	0.02
R5290:Lmbr1l	UTSW	15	98,810,123 (GRCm39)	missense	probably damaging	1.00
R5410:Lmbr1l	UTSW	15	98,807,143 (GRCm39)	missense	probably damaging	1.00
R5436:Lmbr1l	UTSW	15	98,802,672 (GRCm39)	missense	probably damaging	1.00
R5667:Lmbr1l	UTSW	15	98,805,489 (GRCm39)	missense	possibly damaging	0.88
R5671:Lmbr1l	UTSW	15	98,805,489 (GRCm39)	missense	possibly damaging	0.88
R5918:Lmbr1l	UTSW	15	98,810,308 (GRCm39)	missense	probably damaging	0.99
R6735:Lmbr1l	UTSW	15	98,807,121 (GRCm39)	missense	probably damaging	1.00
R6882:Lmbr1l	UTSW	15	98,805,467 (GRCm39)	missense	probably damaging	0.99
R7131:Lmbr1l	UTSW	15	98,804,204 (GRCm39)	missense	probably benign	0.05
R7136:Lmbr1l	UTSW	15	98,809,372 (GRCm39)	splice site	probably null
R7169:Lmbr1l	UTSW	15	98,807,075 (GRCm39)	critical splice donor site	probably benign
R7169:Lmbr1l	UTSW	15	98,807,039 (GRCm39)	frame shift	probably null
R7336:Lmbr1l	UTSW	15	98,811,468 (GRCm39)	missense	possibly damaging	0.94
R7541:Lmbr1l	UTSW	15	98,807,267 (GRCm39)	critical splice donor site	probably null
R7603:Lmbr1l	UTSW	15	98,806,572 (GRCm39)	nonsense	probably null
R7974:Lmbr1l	UTSW	15	98,809,500 (GRCm39)	missense	probably benign	0.03
R8454:Lmbr1l	UTSW	15	98,810,357 (GRCm39)	missense	probably damaging	1.00
R8504:Lmbr1l	UTSW	15	98,810,065 (GRCm39)	missense	probably damaging	0.97
R8933:Lmbr1l	UTSW	15	98,807,150 (GRCm39)	critical splice acceptor site	probably null
R8974:Lmbr1l	UTSW	15	98,810,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTCCACAGACCTAGAGC -3'
(R):5'- GATGGATAGCTCCTTCCCATGG -3'

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

Posted On

2020-09-02