Mutagenetix > Incidental Mutation

Incidental Mutation 'R6846:Limd2'

534775

Institutional Source

Beutler Lab

Gene Symbol

Limd2

Ensembl Gene

ENSMUSG00000040699

Gene Name

LIM domain containing 2

Synonyms

0610025L06Rik

MMRRC Submission

044952-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R6846 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106047080-106051555 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

C to T at 106050213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000102488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002044] [ENSMUST00000007444] [ENSMUST00000045923] [ENSMUST00000064545] [ENSMUST00000100326] [ENSMUST00000103072] [ENSMUST00000106875]

AlphaFold

Q8BGB5

Predicted Effect

probably benign
Transcript: ENSMUST00000002044

SMART Domains

Protein: ENSMUSP00000002044
Gene: ENSMUSG00000020700

Domain	Start	End	E-Value	Type
PB1	44	123	1.04e-18	SMART
S_TKc	362	622	4.23e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000007444

SMART Domains

Protein: ENSMUSP00000007444
Gene: ENSMUSG00000069631

Domain	Start	End	E-Value	Type
Pfam:Pkinase	69	379	2.4e-37	PFAM
Pfam:Pkinase_Tyr	70	302	2.1e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000045923
AA Change: M1I

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045357
Gene: ENSMUSG00000040699
AA Change: M1I

Domain	Start	End	E-Value	Type
LIM	40	92	3.93e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000064545
AA Change: M1I

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000067070
Gene: ENSMUSG00000040699
AA Change: M1I

Domain	Start	End	E-Value	Type
LIM	40	92	3.93e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100326

SMART Domains

Protein: ENSMUSP00000097900
Gene: ENSMUSG00000075480

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	61	74	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103072

SMART Domains

Protein: ENSMUSP00000099361
Gene: ENSMUSG00000069631

Domain	Start	End	E-Value	Type
Pfam:Pkinase	32	342	2.2e-35	PFAM
Pfam:Pkinase_Tyr	33	266	2.5e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106875
AA Change: M1I

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102488
Gene: ENSMUSG00000040699
AA Change: M1I

Domain	Start	End	E-Value	Type
LIM	40	92	3.93e-13	SMART

Meta Mutation Damage Score

0.9557

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,221 (GRCm39)	N3502D	possibly damaging	Het
Ambn	T	A	5: 88,609,574 (GRCm39)	I94K	possibly damaging	Het
Ank3	A	G	10: 69,660,179 (GRCm39)	H227R	probably damaging	Het
Arhgap42	G	T	9: 9,006,446 (GRCm39)	P650Q	probably damaging	Het
Bahcc1	A	G	11: 120,162,422 (GRCm39)	E240G	possibly damaging	Het
Cd19	T	C	7: 126,010,025 (GRCm39)	E408G	probably benign	Het
Cdh11	G	A	8: 103,391,276 (GRCm39)	T320I	probably damaging	Het
Cep131	G	A	11: 119,956,517 (GRCm39)	R944W	probably damaging	Het
Dgkd	T	G	1: 87,853,413 (GRCm39)		probably null	Het
Dnaaf1	T	A	8: 120,309,401 (GRCm39)	L163Q	probably damaging	Het
Ecpas	A	G	4: 58,814,081 (GRCm39)	C1342R	possibly damaging	Het
Etl4	T	A	2: 20,748,919 (GRCm39)	L550Q	possibly damaging	Het
Evpl	T	C	11: 116,114,633 (GRCm39)	E1019G	probably damaging	Het
Fam120b	T	C	17: 15,635,091 (GRCm39)	L601P	probably damaging	Het
Fhit	C	A	14: 9,763,762 (GRCm38)	R172L	possibly damaging	Het
Hoxa6	T	C	6: 52,183,523 (GRCm39)	H174R	possibly damaging	Het
Htra4	A	G	8: 25,520,561 (GRCm39)	F367L	probably damaging	Het
Ighg2c	A	G	12: 113,251,930 (GRCm39)	I102T	unknown	Het
Iws1	T	C	18: 32,219,326 (GRCm39)		probably benign	Het
Lats2	A	G	14: 57,933,591 (GRCm39)	V842A	probably damaging	Het
Lrp2	T	A	2: 69,348,787 (GRCm39)	Q728L	probably damaging	Het
Mcc	T	A	18: 44,606,707 (GRCm39)	T400S	possibly damaging	Het
Mthfd1l	A	G	10: 3,997,898 (GRCm39)	D623G	probably damaging	Het
Myocos	T	C	1: 162,484,665 (GRCm39)		probably benign	Het
Nat1	G	T	8: 67,943,995 (GRCm39)	A124S	probably benign	Het
Nfya	A	T	17: 48,702,715 (GRCm39)	M62K	probably benign	Het
Nlgn1	A	G	3: 25,490,506 (GRCm39)	V378A	probably damaging	Het
Or52r1c	T	A	7: 102,735,265 (GRCm39)	I175N	possibly damaging	Het
Or5ak22	A	T	2: 85,230,861 (GRCm39)	N5K	probably damaging	Het
Pitpnm2	T	C	5: 124,269,234 (GRCm39)	S463G	probably benign	Het
Serpinb3b	T	C	1: 107,082,403 (GRCm39)	E287G	probably benign	Het
Slc16a13	T	C	11: 70,108,661 (GRCm39)	T390A	probably benign	Het
Slc7a14	A	G	3: 31,278,372 (GRCm39)	M411T	probably damaging	Het
Strn	A	G	17: 79,043,886 (GRCm39)	F11L	probably damaging	Het
Swap70	T	A	7: 109,854,956 (GRCm39)	F85L	possibly damaging	Het
Tanc2	T	A	11: 105,689,479 (GRCm39)	W214R	probably benign	Het
Tenm3	T	C	8: 48,729,773 (GRCm39)	K1411R	probably benign	Het
Tmem176a	G	T	6: 48,820,759 (GRCm39)	R116L	probably damaging	Het
Trim71	G	T	9: 114,354,115 (GRCm39)	H296Q	probably damaging	Het
Vmn1r67	A	T	7: 10,180,840 (GRCm39)	I35L	probably benign	Het
Vnn3	A	G	10: 23,727,620 (GRCm39)	T47A	probably benign	Het
Zscan10	A	T	17: 23,824,581 (GRCm39)	Q12H	probably damaging	Het

Other mutations in Limd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Limd2	APN	11	106,050,031 (GRCm39)	missense	probably benign
IGL01516:Limd2	APN	11	106,049,870 (GRCm39)	missense	probably benign
R2088:Limd2	UTSW	11	106,049,568 (GRCm39)	missense	probably damaging	0.99
R4870:Limd2	UTSW	11	106,050,215 (GRCm39)	start codon destroyed	probably null	0.36
R6807:Limd2	UTSW	11	106,049,771 (GRCm39)	missense	probably benign
R6998:Limd2	UTSW	11	106,049,516 (GRCm39)	missense	probably benign	0.11
R7877:Limd2	UTSW	11	106,050,004 (GRCm39)	missense	probably benign	0.29
R8859:Limd2	UTSW	11	106,049,576 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCTTAGACCGCTGTACCG -3'
(R):5'- CCCAGAGCAACAGGAAATGACTTAG -3'

Sequencing Primer
(F):5'- TTAGACCGCTGTACCGTGCTG -3'
(R):5'- CAACAGGAAATGACTTAGGGAAAG -3'

Posted On

2018-09-12