Mutagenetix > Incidental Mutation

Incidental Mutation 'R5918:Lmbr1l'

461493

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1l

Ensembl Gene

ENSMUSG00000022999

Gene Name

limb region 1 like

Synonyms

D15Ertd735e, 1110013E13Rik

MMRRC Submission

044115-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5918 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

98801798-98815944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98810308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 101 (I101N)

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: I101N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: I101N

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

0.6884

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

93% (66/71)

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
Afap1	A	T	5: 36,131,869 (GRCm39)	I399F	possibly damaging	Het
Aknad1	C	T	3: 108,659,703 (GRCm39)	P239L	probably benign	Het
Ankrd9	A	G	12: 110,943,200 (GRCm39)	V245A	probably benign	Het
Anxa1	T	C	19: 20,355,857 (GRCm39)		probably benign	Het
Arhgef2	A	G	3: 88,543,387 (GRCm39)	K454R	probably damaging	Het
AU040320	A	G	4: 126,708,064 (GRCm39)	T227A	probably benign	Het
Bbs2	C	T	8: 94,824,931 (GRCm39)	R17H	probably damaging	Het
Bcl2l12	A	G	7: 44,640,888 (GRCm39)		probably benign	Het
C1qtnf9	G	T	14: 61,009,737 (GRCm39)		probably benign	Het
Ccdc38	C	G	10: 93,406,748 (GRCm39)	Y219*	probably null	Het
Ceacam3	G	T	7: 16,893,670 (GRCm39)	D394Y	probably damaging	Het
Crip1	A	C	12: 113,117,287 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,260,803 (GRCm39)	V1987A	probably benign	Het
Dnah9	C	A	11: 65,725,025 (GRCm39)	C4376F	probably damaging	Het
Galnt9	T	C	5: 110,763,332 (GRCm39)	F446L	probably damaging	Het
Garin1a	A	G	6: 29,285,942 (GRCm39)	R76G	probably null	Het
Gm14322	A	G	2: 177,411,499 (GRCm39)	D103G	probably benign	Het
Gpa33	T	C	1: 165,958,107 (GRCm39)		probably null	Het
Lactb2	T	A	1: 13,720,954 (GRCm39)	I93F	probably benign	Het
Lifr	A	T	15: 7,188,897 (GRCm39)	T93S	probably benign	Het
Lrrc8c	G	A	5: 105,756,117 (GRCm39)	V631M	possibly damaging	Het
Mctp2	A	C	7: 71,878,288 (GRCm39)	D263E	probably damaging	Het
Nbeal1	T	A	1: 60,307,051 (GRCm39)	I1627N	possibly damaging	Het
Neb	T	C	2: 52,087,906 (GRCm39)	Y5188C	probably damaging	Het
Nf1	T	C	11: 79,460,048 (GRCm39)		probably benign	Het
Nr6a1	T	C	2: 38,629,103 (GRCm39)	D250G	probably damaging	Het
Ola1	T	C	2: 72,987,128 (GRCm39)	E168G	probably benign	Het
Or1a1	T	C	11: 74,086,944 (GRCm39)	V205A	probably damaging	Het
Or2d2b	T	A	7: 106,705,828 (GRCm39)	Q80L	probably damaging	Het
Or4k2	A	G	14: 50,424,425 (GRCm39)	I83T	probably benign	Het
Or7g22	T	C	9: 19,048,684 (GRCm39)	Y132H	probably damaging	Het
Or9i1b	T	A	19: 13,897,139 (GRCm39)	F252I	probably damaging	Het
Pik3r6	C	T	11: 68,416,497 (GRCm39)	Q29*	probably null	Het
Ppargc1a	C	T	5: 51,620,579 (GRCm39)		probably benign	Het
Ppl	C	T	16: 4,922,765 (GRCm39)	R242H	probably benign	Het
Ppp1r37	G	T	7: 19,266,036 (GRCm39)	Q577K	probably benign	Het
Prcd	A	G	11: 116,548,366 (GRCm39)	E25G	probably damaging	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Ptgs1	A	C	2: 36,141,089 (GRCm39)	E512A	probably damaging	Het
Radil	T	G	5: 142,473,357 (GRCm39)	I535L	probably benign	Het
Rbl2	G	T	8: 91,816,758 (GRCm39)	V373F	probably benign	Het
Ryr1	T	C	7: 28,708,577 (GRCm39)	Y4802C	probably benign	Het
Sdc2	A	G	15: 33,028,313 (GRCm39)	T144A	probably benign	Het
Senp6	T	C	9: 80,021,398 (GRCm39)		probably null	Het
Sipa1l3	T	C	7: 29,096,631 (GRCm39)	D531G	probably damaging	Het
Slc22a27	C	A	19: 7,887,411 (GRCm39)	C189F	possibly damaging	Het
Srcin1	T	C	11: 97,424,323 (GRCm39)		probably null	Het
Svep1	C	T	4: 58,069,345 (GRCm39)	E2814K	possibly damaging	Het
Tjp3	T	G	10: 81,113,746 (GRCm39)	H504P	probably benign	Het
Tmprss4	T	A	9: 45,086,414 (GRCm39)	K378*	probably null	Het
Tns4	C	T	11: 98,964,497 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,580,298 (GRCm39)	T15205A	possibly damaging	Het
Ush2a	G	T	1: 188,089,011 (GRCm39)	G322V	probably benign	Het
Vac14	A	T	8: 111,363,104 (GRCm39)		probably null	Het
Vmn1r175	T	G	7: 23,508,372 (GRCm39)	D85A	probably damaging	Het
Vmn2r93	T	C	17: 18,546,030 (GRCm39)	L634P	probably damaging	Het
Zeb2	A	T	2: 45,001,271 (GRCm39)		probably benign	Het
Zfp616	T	A	11: 73,974,086 (GRCm39)	H118Q	possibly damaging	Het
Zfp945	T	A	17: 23,069,955 (GRCm39)	H648L	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	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
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
R8354:Lmbr1l	UTSW	15	98,810,357 (GRCm39)	missense	probably damaging	1.00
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'- ACGAGGTTCCACAGACCTAG -3'
(R):5'- CTGGTTCTAAAAGCCCTGGGTG -3'

Sequencing Primer
(F):5'- GTTCCACAGACCTAGAGCCAAAAAG -3'
(R):5'- TGCCCTTGGGAAAGAAATAGCTTC -3'

Posted On

2017-02-28