Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02216:Fhl2'

284872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fhl2

Ensembl Gene

ENSMUSG00000008136

Gene Name

four and a half LIM domains 2

Synonyms

SLIM3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

43162234-43236144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43170879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 145 (E145V)

Ref Sequence

ENSEMBL: ENSMUSP00000141170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008280] [ENSMUST00000185893] [ENSMUST00000187357]

AlphaFold

O70433

Predicted Effect

probably null
Transcript: ENSMUST00000008280
AA Change: E145V

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: E145V

Domain	Start	End	E-Value	Type
LIM	39	92	1.35e-11	SMART
LIM	100	153	5.22e-18	SMART
LIM	161	212	3.29e-15	SMART
LIM	220	275	1.01e-15	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000185893
AA Change: E145V

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: E145V

Domain	Start	End	E-Value	Type
LIM	39	92	1.35e-11	SMART
LIM	100	153	5.22e-18	SMART
LIM	161	212	3.29e-15	SMART
LIM	220	275	1.01e-15	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000187357

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the four-and-a-half-LIM-only protein family. The encoded protein functions as a regulator in numerous signaling pathways and cellular processes in development and cellular differentiation, including development and maintenance of the cardiovascular system and striated muscles. This gene also plays a role in bone formation and regulates and bone mineral content and bone mineral density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation display osteopenia and osteoporosis; cardiovascular development is normal but cardiac hypertrophy develops in mutants in response to beta-adrenergic stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	T	C	11: 70,507,005 (GRCm39)	F48L	possibly damaging	Het
Adamts12	A	G	15: 11,241,571 (GRCm39)	N381S	possibly damaging	Het
Akp3	A	T	1: 87,055,372 (GRCm39)	Q473L	probably damaging	Het
Albfm1	T	C	5: 90,727,438 (GRCm39)		probably benign	Het
Ap5s1	T	A	2: 131,054,887 (GRCm39)		probably benign	Het
Atp10b	T	A	11: 43,150,616 (GRCm39)	L1438Q	probably damaging	Het
B3galt4	G	A	17: 34,169,539 (GRCm39)	P233L	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,865,942 (GRCm39)	E393*	probably null	Het
Cd209a	G	T	8: 3,795,576 (GRCm39)	T165N	probably damaging	Het
Chid1	T	C	7: 141,076,506 (GRCm39)		probably benign	Het
Cln3	A	T	7: 126,174,514 (GRCm39)		probably null	Het
Cped1	A	T	6: 22,059,944 (GRCm39)	R203S	probably damaging	Het
Dele1	A	T	18: 38,385,913 (GRCm39)	I102F	probably damaging	Het
Dnttip2	G	T	3: 122,069,910 (GRCm39)	W375L	probably benign	Het
Dync1h1	T	C	12: 110,629,436 (GRCm39)	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,370,332 (GRCm39)	D844G	possibly damaging	Het
Gne	T	C	4: 44,044,761 (GRCm39)	K458E	probably benign	Het
Grid2	G	T	6: 64,322,650 (GRCm39)	R550L	probably damaging	Het
Klhl1	T	A	14: 96,360,658 (GRCm39)	T731S	probably benign	Het
Kng1	T	A	16: 22,877,283 (GRCm39)	D30E	probably damaging	Het
Kyat1	A	G	2: 30,077,264 (GRCm39)	V158A	probably benign	Het
Mcm8	G	T	2: 132,681,449 (GRCm39)	V642F	probably damaging	Het
Mdn1	C	T	4: 32,739,092 (GRCm39)	H3638Y	probably benign	Het
Neb	T	G	2: 52,116,502 (GRCm39)	T4158P	probably benign	Het
Neo1	T	C	9: 58,824,336 (GRCm39)	I697M	probably damaging	Het
Nfkb1	A	T	3: 135,300,724 (GRCm39)	V614D	probably damaging	Het
Or7e169	G	A	9: 19,757,861 (GRCm39)	S18L	probably damaging	Het
Otog	T	C	7: 45,950,892 (GRCm39)	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,784,897 (GRCm39)	R1962S	probably damaging	Het
Plxnb1	A	G	9: 108,929,918 (GRCm39)	Y258C	probably damaging	Het
Pramel12	T	A	4: 143,144,298 (GRCm39)		probably null	Het
Prl3a1	A	G	13: 27,454,127 (GRCm39)	D35G	probably benign	Het
Rag1	A	T	2: 101,473,726 (GRCm39)	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,506,641 (GRCm39)		probably benign	Het
Rnf112	C	T	11: 61,340,804 (GRCm39)	V472M	probably damaging	Het
Rps18	A	G	17: 34,171,015 (GRCm39)		probably benign	Het
Rptn	T	C	3: 93,303,080 (GRCm39)	S138P	possibly damaging	Het
Sbpl	A	C	17: 24,172,690 (GRCm39)	N76K	probably benign	Het
Sh3bp1	A	T	15: 78,789,364 (GRCm39)	M241L	probably benign	Het
Slc22a17	T	C	14: 55,145,433 (GRCm39)	*198W	probably null	Het
Smc3	C	T	19: 53,610,275 (GRCm39)	R221C	probably damaging	Het
Snai1	A	G	2: 167,380,768 (GRCm39)	E87G	probably benign	Het
Snx22	C	A	9: 65,976,470 (GRCm39)	A49S	probably benign	Het
Tas2r143	A	T	6: 42,377,268 (GRCm39)	R33*	probably null	Het
Try4	A	G	6: 41,281,965 (GRCm39)	I184V	probably benign	Het
Ttn	T	A	2: 76,584,896 (GRCm39)	K20355*	probably null	Het
Ttn	A	G	2: 76,622,069 (GRCm39)	V15491A	probably benign	Het
Tut7	T	C	13: 59,948,237 (GRCm39)	T293A	probably benign	Het
Vmn1r170	A	G	7: 23,305,915 (GRCm39)	T106A	probably damaging	Het
Vmn2r59	A	T	7: 41,661,817 (GRCm39)	V666E	probably damaging	Het
Vsx1	T	C	2: 150,526,495 (GRCm39)	N221S	possibly damaging	Het
Zfp846	A	G	9: 20,499,905 (GRCm39)	E45G	probably damaging	Het

Other mutations in Fhl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Fhl2	APN	1	43,170,841 (GRCm39)	missense	probably benign	0.37
IGL01941:Fhl2	APN	1	43,170,832 (GRCm39)	nonsense	probably null
IGL02335:Fhl2	APN	1	43,167,550 (GRCm39)	nonsense	probably null
IGL02800:Fhl2	APN	1	43,167,562 (GRCm39)	missense	probably benign	0.28
IGL03330:Fhl2	APN	1	43,192,351 (GRCm39)	missense	probably damaging	1.00
IGL02799:Fhl2	UTSW	1	43,167,562 (GRCm39)	missense	probably benign	0.28
IGL02802:Fhl2	UTSW	1	43,162,761 (GRCm39)	nonsense	probably null
R0103:Fhl2	UTSW	1	43,192,381 (GRCm39)	missense	probably benign	0.00
R0103:Fhl2	UTSW	1	43,192,381 (GRCm39)	missense	probably benign	0.00
R0938:Fhl2	UTSW	1	43,180,866 (GRCm39)	missense	possibly damaging	0.83
R6459:Fhl2	UTSW	1	43,162,813 (GRCm39)	missense	possibly damaging	0.85
R6676:Fhl2	UTSW	1	43,170,970 (GRCm39)	missense	possibly damaging	0.83
R7048:Fhl2	UTSW	1	43,162,808 (GRCm39)	missense	probably damaging	1.00
R7143:Fhl2	UTSW	1	43,181,011 (GRCm39)	missense	probably damaging	1.00
R7853:Fhl2	UTSW	1	43,180,984 (GRCm39)	missense	probably damaging	0.96
R8695:Fhl2	UTSW	1	43,167,571 (GRCm39)	missense	probably damaging	0.97
R8774:Fhl2	UTSW	1	43,162,751 (GRCm39)	missense	probably damaging	0.98
R8774-TAIL:Fhl2	UTSW	1	43,162,751 (GRCm39)	missense	probably damaging	0.98
R9250:Fhl2	UTSW	1	43,167,422 (GRCm39)	missense	probably damaging	1.00
R9616:Fhl2	UTSW	1	43,167,546 (GRCm39)	missense	probably damaging	1.00
X0019:Fhl2	UTSW	1	43,167,569 (GRCm39)	missense	possibly damaging	0.73
X0021:Fhl2	UTSW	1	43,192,303 (GRCm39)	missense	probably benign
X0028:Fhl2	UTSW	1	43,167,460 (GRCm39)	missense	probably benign	0.09

Posted On

2015-04-16