Mutagenetix > Incidental Mutation

Incidental Mutation 'R0319:Lmo3'

25551

Institutional Source

Beutler Lab

Gene Symbol

Lmo3

Ensembl Gene

ENSMUSG00000030226

Gene Name

LIM domain only 3

Synonyms

Rbtn-3, Rbtn3

MMRRC Submission

038529-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.749) question?

Stock #

R0319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138339916-138558966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138354309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 85 (T85M)

Ref Sequence

ENSEMBL: ENSMUSP00000124762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160050] [ENSMUST00000161450] [ENSMUST00000162185] [ENSMUST00000162772] [ENSMUST00000163024] [ENSMUST00000163065] [ENSMUST00000203435]

AlphaFold

Q8BZL8

Predicted Effect

silent
Transcript: ENSMUST00000160050

SMART Domains

Protein: ENSMUSP00000124722
Gene: ENSMUSG00000030226

Domain	Start	End	E-Value	Type
LIM	12	59	7.82e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161450
AA Change: T74M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124862
Gene: ENSMUSG00000030226
AA Change: T74M

Domain	Start	End	E-Value	Type
LIM	12	66	8.69e-15	SMART
LIM	76	130	3.12e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162185
AA Change: T74M

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124105
Gene: ENSMUSG00000030226
AA Change: T74M

Domain	Start	End	E-Value	Type
LIM	12	66	8.69e-15	SMART
LIM	76	108	6.02e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162772
AA Change: T74M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125335
Gene: ENSMUSG00000030226
AA Change: T74M

Domain	Start	End	E-Value	Type
LIM	12	66	8.69e-15	SMART
LIM	76	130	3.12e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163024
AA Change: T74M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125589
Gene: ENSMUSG00000030226
AA Change: T74M

Domain	Start	End	E-Value	Type
LIM	12	66	8.69e-15	SMART
LIM	76	130	3.12e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163065
AA Change: T85M

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

SMART Domains

Protein: ENSMUSP00000124762
Gene: ENSMUSG00000030226
AA Change: T85M

Domain	Start	End	E-Value	Type
LIM	23	77	8.69e-15	SMART
LIM	87	141	3.12e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203435
AA Change: T74M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145048
Gene: ENSMUSG00000030226
AA Change: T74M

Domain	Start	End	E-Value	Type
LIM	12	66	8.69e-15	SMART
LIM	76	130	3.12e-16	SMART

Meta Mutation Damage Score

0.3665

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.1%

Validation Efficiency

100% (58/58)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice show no overt phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	C	7: 127,836,362 (GRCm39)	V77G	probably benign	Het
Abcb1b	A	G	5: 8,877,428 (GRCm39)	R663G	probably benign	Het
Acly	A	G	11: 100,395,808 (GRCm39)	V404A	probably damaging	Het
Actg2	T	A	6: 83,497,725 (GRCm39)	I103F	probably damaging	Het
Anapc5	A	G	5: 122,956,919 (GRCm39)	V120A	probably damaging	Het
Ankk1	T	G	9: 49,327,371 (GRCm39)	T603P	probably damaging	Het
Ankmy2	T	C	12: 36,215,898 (GRCm39)	S33P	possibly damaging	Het
Arhgef19	A	T	4: 140,983,710 (GRCm39)	T748S	possibly damaging	Het
Atad5	T	A	11: 80,011,616 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,249,483 (GRCm39)	L105P	probably damaging	Het
Cacna1s	T	C	1: 135,998,455 (GRCm39)	V161A	probably damaging	Het
Col6a3	T	C	1: 90,735,426 (GRCm39)	E741G	possibly damaging	Het
Cpne9	G	A	6: 113,271,654 (GRCm39)	G338E	probably damaging	Het
Cyp3a13	G	A	5: 137,897,124 (GRCm39)	P397S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Draxin	A	G	4: 148,200,429 (GRCm39)	L7P	probably benign	Het
Exosc7	T	A	9: 122,960,025 (GRCm39)		probably benign	Het
Far2	A	G	6: 148,058,968 (GRCm39)	E218G	probably damaging	Het
Ggps1	A	C	13: 14,228,462 (GRCm39)	N240K	possibly damaging	Het
Kcnip1	T	C	11: 33,601,529 (GRCm39)		probably benign	Het
Kcnv2	A	T	19: 27,301,424 (GRCm39)	Y425F	probably benign	Het
Kdelr2	T	A	5: 143,398,272 (GRCm39)	F40I	probably damaging	Het
Kdm1b	C	T	13: 47,207,195 (GRCm39)	P173L	probably benign	Het
Kif20b	G	A	19: 34,925,132 (GRCm39)		probably benign	Het
Klhl9	A	T	4: 88,638,691 (GRCm39)	Y517N	possibly damaging	Het
Lgals3bp	A	G	11: 118,284,347 (GRCm39)	S411P	probably damaging	Het
Lvrn	C	A	18: 46,997,820 (GRCm39)	T256N	probably damaging	Het
Malt1	T	C	18: 65,595,986 (GRCm39)		probably null	Het
Mgst1	A	G	6: 138,133,155 (GRCm39)	I157V	possibly damaging	Het
Mob3a	A	T	10: 80,525,819 (GRCm39)	V164E	possibly damaging	Het
Mprip	T	A	11: 59,587,864 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,959,712 (GRCm39)	N276S	probably benign	Het
Or5an1b	A	T	19: 12,299,680 (GRCm39)	C170*	probably null	Het
P3h2	T	A	16: 25,789,681 (GRCm39)	I529F	possibly damaging	Het
Pikfyve	T	A	1: 65,285,490 (GRCm39)	S865T	probably benign	Het
Rcbtb2	G	A	14: 73,415,909 (GRCm39)	R474Q	probably benign	Het
Rpl27	G	A	11: 101,334,321 (GRCm39)		probably benign	Het
Rtp1	G	A	16: 23,250,210 (GRCm39)	E192K	probably damaging	Het
Sgk2	T	C	2: 162,837,592 (GRCm39)		probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc49a4	T	C	16: 35,570,884 (GRCm39)	D140G	probably benign	Het
Spdl1	T	C	11: 34,714,347 (GRCm39)	N114S	possibly damaging	Het
Syne2	C	T	12: 76,110,936 (GRCm39)	R5756W	probably damaging	Het
Tor1aip1	T	C	1: 155,882,927 (GRCm39)	E307G	probably damaging	Het
Tpd52	T	C	3: 9,018,749 (GRCm39)	T44A	probably benign	Het
Trim67	A	T	8: 125,549,966 (GRCm39)	Y532F	probably damaging	Het
Ttll9	C	A	2: 152,842,018 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,680,571 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,909,709 (GRCm39)	I539M	probably benign	Het
Vmn1r19	T	A	6: 57,381,600 (GRCm39)	M51K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,941 (GRCm39)	M787K	probably damaging	Het
Xdh	T	A	17: 74,213,096 (GRCm39)		probably benign	Het
Zfp109	A	T	7: 23,933,895 (GRCm39)	V8E	probably damaging	Het
Zfp595	G	A	13: 67,464,577 (GRCm39)	A562V	possibly damaging	Het
Zfp759	A	G	13: 67,288,356 (GRCm39)	T636A	probably benign	Het

Other mutations in Lmo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01768:Lmo3	APN	6	138,393,495 (GRCm39)	missense	probably damaging	1.00
IGL03196:Lmo3	APN	6	138,342,993 (GRCm39)	missense	probably benign	0.05
R2119:Lmo3	UTSW	6	138,393,492 (GRCm39)	missense	probably damaging	1.00
R6860:Lmo3	UTSW	6	138,393,566 (GRCm39)	missense	possibly damaging	0.83
R7318:Lmo3	UTSW	6	138,398,363 (GRCm39)	intron	probably benign
R7443:Lmo3	UTSW	6	138,354,220 (GRCm39)	missense	probably damaging	1.00
R7483:Lmo3	UTSW	6	138,393,500 (GRCm39)	missense	probably damaging	1.00
R9367:Lmo3	UTSW	6	138,342,958 (GRCm39)	nonsense	probably null
R9500:Lmo3	UTSW	6	138,393,621 (GRCm39)	missense
X0027:Lmo3	UTSW	6	138,393,482 (GRCm39)	missense	probably damaging	1.00
Z1177:Lmo3	UTSW	6	138,393,498 (GRCm39)	missense	probably benign	0.10
Z1177:Lmo3	UTSW	6	138,393,494 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCCTAGAGAATGGCACCTTTCG -3'
(R):5'- TGTCAAAGAGGAGTGATTCAGACGC -3'

Sequencing Primer
(F):5'- TCGGGGGGAGGTCAAATTAAATG -3'
(R):5'- CTCTAACAAGCAGGTGTTTCTGAG -3'

Posted On

2013-04-16