Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00551:Limd2'

13585

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Limd2

Ensembl Gene

ENSMUSG00000040699

Gene Name

LIM domain containing 2

Synonyms

0610025L06Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00551

Quality Score

Status

Chromosome

Chromosomal Location

106047080-106051555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106050031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 15 (E15G)

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 benign
Transcript: ENSMUST00000045923
AA Change: E15G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045357
Gene: ENSMUSG00000040699
AA Change: E15G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064545
AA Change: E15G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067070
Gene: ENSMUSG00000040699
AA Change: E15G

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 benign
Transcript: ENSMUST00000106875
AA Change: E15G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102488
Gene: ENSMUSG00000040699
AA Change: E15G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122989

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Art2b	C	T	7: 101,229,776 (GRCm39)	C41Y	probably damaging	Het
Btk	A	G	X: 133,474,683 (GRCm39)	Y42H	probably damaging	Het
Cacna1e	T	C	1: 154,279,429 (GRCm39)	D1720G	probably damaging	Het
Ccr5	T	C	9: 123,924,625 (GRCm39)	I76T	probably damaging	Het
Chd3	A	G	11: 69,237,455 (GRCm39)	V1913A	probably damaging	Het
Dmxl2	A	G	9: 54,358,122 (GRCm39)	Y526H	probably damaging	Het
Dnah8	A	T	17: 30,882,452 (GRCm39)	K675*	probably null	Het
Eif2b1	A	G	5: 124,714,932 (GRCm39)	F115L	probably damaging	Het
Erlin1	T	C	19: 44,047,585 (GRCm39)	D112G	probably damaging	Het
Fabp12	A	G	3: 10,311,115 (GRCm39)		probably benign	Het
Fam47c	A	G	X: 77,782,060 (GRCm39)	E214G	probably damaging	Het
Fkbp5	G	T	17: 28,620,020 (GRCm39)		probably benign	Het
H1f2	C	A	13: 23,922,828 (GRCm39)		probably benign	Het
Kidins220	G	T	12: 25,088,559 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,750,295 (GRCm39)	C696S	possibly damaging	Het
Naa16	A	G	14: 79,593,169 (GRCm39)	F468L	probably damaging	Het
Ndufaf1	A	G	2: 119,490,950 (GRCm39)	S37P	probably damaging	Het
Phrf1	A	G	7: 140,838,790 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,819 (GRCm39)	T228A	probably benign	Het
Rfc1	A	T	5: 65,453,352 (GRCm39)	F265L	probably benign	Het
Selenos	A	G	7: 65,736,942 (GRCm39)	E137G	probably benign	Het
Tars1	T	C	15: 11,388,307 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,698,390 (GRCm39)	I44T	probably benign	Het
Usp26	A	G	X: 50,846,182 (GRCm39)	V31A	probably benign	Het

Other mutations in Limd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6846:Limd2	UTSW	11	106,050,213 (GRCm39)	start codon destroyed	probably null	0.57
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

Posted On

2012-12-06