Mutagenetix > Incidental Mutation

Incidental Mutation 'R1118:Fhl3'

97525

Institutional Source

Beutler Lab

Gene Symbol

Fhl3

Ensembl Gene

ENSMUSG00000032643

Gene Name

four and a half LIM domains 3

Synonyms

MMRRC Submission

039191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R1118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124594494-124602404 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 124599584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038684] [ENSMUST00000038684] [ENSMUST00000106199] [ENSMUST00000106199] [ENSMUST00000145942] [ENSMUST00000145942]

AlphaFold

Q9R059

Predicted Effect

probably null
Transcript: ENSMUST00000038684

SMART Domains

Protein: ENSMUSP00000040150
Gene: ENSMUSG00000032643

Domain	Start	End	E-Value	Type
LIM	39	92	2.7e-11	SMART
LIM	100	153	1.67e-16	SMART
LIM	161	212	4.48e-17	SMART
LIM	220	284	2.91e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000038684

SMART Domains

Protein: ENSMUSP00000040150
Gene: ENSMUSG00000032643

Domain	Start	End	E-Value	Type
LIM	39	92	2.7e-11	SMART
LIM	100	153	1.67e-16	SMART
LIM	161	212	4.48e-17	SMART
LIM	220	284	2.91e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106199

SMART Domains

Protein: ENSMUSP00000101805
Gene: ENSMUSG00000032643

Domain	Start	End	E-Value	Type
LIM	39	92	2.7e-11	SMART
LIM	100	153	1.67e-16	SMART
LIM	161	212	4.48e-17	SMART
LIM	220	275	8.49e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106199

SMART Domains

Protein: ENSMUSP00000101805
Gene: ENSMUSG00000032643

Domain	Start	End	E-Value	Type
LIM	39	92	2.7e-11	SMART
LIM	100	153	1.67e-16	SMART
LIM	161	212	4.48e-17	SMART
LIM	220	275	8.49e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145942

SMART Domains

Protein: ENSMUSP00000121702
Gene: ENSMUSG00000032643

Domain	Start	End	E-Value	Type
Blast:LIM	1	31	5e-6	BLAST
LIM	39	92	2.7e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145942

SMART Domains

Protein: ENSMUSP00000121702
Gene: ENSMUSG00000032643

Domain	Start	End	E-Value	Type
Blast:LIM	1	31	5e-6	BLAST
LIM	39	92	2.7e-11	SMART

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.3%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	A	G	18: 63,085,095 (GRCm39)	T431A	probably benign	Het
Bcan	T	A	3: 87,896,534 (GRCm39)	I721F	probably damaging	Het
Card10	T	C	15: 78,686,643 (GRCm39)	D58G	possibly damaging	Het
Cd200r2	A	G	16: 44,729,969 (GRCm39)	N171S	probably damaging	Het
Celsr1	T	C	15: 85,916,248 (GRCm39)	D575G	probably damaging	Het
Ces1f	A	G	8: 93,993,870 (GRCm39)		probably benign	Het
Cped1	A	T	6: 22,237,698 (GRCm39)	H938L	probably benign	Het
Creld1	A	G	6: 113,468,656 (GRCm39)	D259G	probably benign	Het
Cubn	T	C	2: 13,341,053 (GRCm39)	I2223V	possibly damaging	Het
Dop1a	A	G	9: 86,397,459 (GRCm39)	D921G	probably damaging	Het
Dusp7	T	C	9: 106,250,849 (GRCm39)	S325P	possibly damaging	Het
Fat4	A	T	3: 39,037,091 (GRCm39)	D3581V	possibly damaging	Het
Gap43	T	C	16: 42,112,167 (GRCm39)	E198G	probably benign	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Grina	T	C	15: 76,132,779 (GRCm39)	F182S	probably damaging	Het
Gsk3b	T	C	16: 38,028,346 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Haus6	A	G	4: 86,503,563 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,494,679 (GRCm39)	A4137T	possibly damaging	Het
Itih4	C	A	14: 30,618,124 (GRCm39)		probably benign	Het
Itprid1	T	C	6: 55,866,155 (GRCm39)	F183L	probably damaging	Het
Kif22	A	G	7: 126,631,916 (GRCm39)	S384P	probably benign	Het
Lbr	A	C	1: 181,648,233 (GRCm39)		probably benign	Het
Mei1	G	A	15: 82,000,068 (GRCm39)		probably benign	Het
Misp	T	C	10: 79,662,969 (GRCm39)	V462A	probably benign	Het
Mrgpra3	A	C	7: 47,239,039 (GRCm39)	L296V	possibly damaging	Het
Ndufa9	A	T	6: 126,799,031 (GRCm39)	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Or4f14	T	A	2: 111,743,222 (GRCm39)	T18S	probably benign	Het
Otud4	C	T	8: 80,379,980 (GRCm39)		probably benign	Het
P4ha3	T	C	7: 99,962,535 (GRCm39)	I431T	probably damaging	Het
Pcdhb15	T	A	18: 37,606,815 (GRCm39)	F16I	probably benign	Het
Pcnp	A	G	16: 55,844,754 (GRCm39)	S49P	probably damaging	Het
Pdxdc1	T	A	16: 13,697,278 (GRCm39)		probably benign	Het
Pgc	T	A	17: 48,039,828 (GRCm39)		probably null	Het
Phf11a	T	C	14: 59,521,778 (GRCm39)	D131G	probably benign	Het
Prdm2	G	A	4: 142,858,953 (GRCm39)	H1446Y	possibly damaging	Het
Rad54b	T	C	4: 11,563,352 (GRCm39)	S4P	probably damaging	Het
Slc52a2	T	C	15: 76,423,808 (GRCm39)		probably benign	Het
Slc9a4	G	A	1: 40,623,490 (GRCm39)		probably benign	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smg7	A	T	1: 152,742,326 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sspo	A	G	6: 48,436,352 (GRCm39)	Y1234C	probably damaging	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Stk36	A	G	1: 74,671,925 (GRCm39)	E875G	probably benign	Het
Stmn4	T	G	14: 66,591,844 (GRCm39)		probably benign	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Tex14	A	T	11: 87,413,343 (GRCm39)	R1031S	probably benign	Het
Tia1	G	A	6: 86,396,091 (GRCm39)	V96I	probably benign	Het
Ticrr	C	T	7: 79,343,701 (GRCm39)	P1189S	probably benign	Het
Tnxb	G	A	17: 34,904,017 (GRCm39)	V1053M	probably damaging	Het
Tpp2	T	C	1: 44,031,556 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,664,406 (GRCm39)	M991T	possibly damaging	Het
Ttc3	T	A	16: 94,217,127 (GRCm39)		probably benign	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Vmn2r107	G	A	17: 20,576,860 (GRCm39)	R286Q	probably benign	Het
Wdr87-ps	G	A	7: 29,233,669 (GRCm39)		noncoding transcript	Het
Wrap73	A	T	4: 154,236,884 (GRCm39)		probably null	Het
Zfp958	A	T	8: 4,676,169 (GRCm39)	N46Y	possibly damaging	Het

Other mutations in Fhl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0592:Fhl3	UTSW	4	124,599,470 (GRCm39)	missense	probably benign	0.23
R2402:Fhl3	UTSW	4	124,599,481 (GRCm39)	missense	probably damaging	1.00
R2921:Fhl3	UTSW	4	124,599,463 (GRCm39)	missense	probably damaging	1.00
R2923:Fhl3	UTSW	4	124,599,463 (GRCm39)	missense	probably damaging	1.00
R4583:Fhl3	UTSW	4	124,601,342 (GRCm39)	missense	probably benign	0.41
R5147:Fhl3	UTSW	4	124,601,724 (GRCm39)	missense	probably benign	0.01
R5460:Fhl3	UTSW	4	124,599,796 (GRCm39)	missense	probably damaging	1.00
R5932:Fhl3	UTSW	4	124,599,520 (GRCm39)	missense	probably damaging	1.00
R6855:Fhl3	UTSW	4	124,601,315 (GRCm39)	missense	probably benign	0.00
R9267:Fhl3	UTSW	4	124,601,498 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCATTTGACTGTGCAAAATGCAAC -3'
(R):5'- TCCAGGAACATACAGCGTGTGGAG -3'

Sequencing Primer
(F):5'- AACGAGTCCTTGTACGGC -3'
(R):5'- TCACTGTCCTGACAGGTGAAG -3'

Posted On

2014-01-05