Mutagenetix > Incidental Mutation

Incidental Mutation 'R6855:Fhl3'

554332

Institutional Source

Beutler Lab

Gene Symbol

Fhl3

Ensembl Gene

ENSMUSG00000032643

Gene Name

four and a half LIM domains 3

Synonyms

MMRRC Submission

045024-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6855 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

124594494-124602404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124601315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 113 (D113N)

Ref Sequence

ENSEMBL: ENSMUSP00000121702 (fasta)

Gene Model

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

AlphaFold

Q9R059

Predicted Effect

silent
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

silent
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
AA Change: D113N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121702
Gene: ENSMUSG00000032643
AA Change: D113N

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (57/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,114,844 (GRCm39)	S228F	probably damaging	Het
Cdh23	A	T	10: 60,141,901 (GRCm39)	M3062K	possibly damaging	Het
Cdh8	G	C	8: 99,916,849 (GRCm39)	S422C	probably damaging	Het
Col15a1	G	T	4: 47,245,544 (GRCm39)	K98N	probably damaging	Het
Cyp3a57	T	A	5: 145,309,376 (GRCm39)	L238H	probably damaging	Het
Dchs2	G	A	3: 83,255,501 (GRCm39)	R2399H	probably benign	Het
Dennd4c	A	C	4: 86,754,694 (GRCm39)	H1568P	probably benign	Het
Dkk2	T	G	3: 131,883,683 (GRCm39)	C194W	probably damaging	Het
Dnm2	C	T	9: 21,387,881 (GRCm39)	R369C	probably damaging	Het
Efcab7	T	G	4: 99,757,777 (GRCm39)	L308*	probably null	Het
Elp2	T	A	18: 24,739,934 (GRCm39)	N53K	possibly damaging	Het
Eml6	T	C	11: 29,701,381 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,468,286 (GRCm39)	E913*	probably null	Het
Fam186a	T	A	15: 99,852,756 (GRCm39)	Y154F	unknown	Het
Fryl	A	T	5: 73,216,843 (GRCm39)	M2149K	probably damaging	Het
Gbf1	T	C	19: 46,268,380 (GRCm39)	Y1251H	probably benign	Het
Ghitm	C	A	14: 36,847,859 (GRCm39)	G262W	probably null	Het
Gm14325	T	A	2: 177,474,635 (GRCm39)	H148L	probably damaging	Het
Grxcr1	C	A	5: 68,189,437 (GRCm39)	N69K	possibly damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrp1b	G	C	2: 40,518,708 (GRCm39)	H175D	possibly damaging	Het
Lrrc2	T	A	9: 110,782,250 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,904,151 (GRCm39)	F291L	probably benign	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Nfil3	T	A	13: 53,122,641 (GRCm39)	K88*	probably null	Het
Nit1	A	C	1: 171,171,130 (GRCm39)	V194G	probably damaging	Het
Nup210	T	C	6: 91,017,835 (GRCm39)	M1052V	probably benign	Het
Nup210l	A	G	3: 90,044,231 (GRCm39)	T511A	probably benign	Het
Nwd2	G	T	5: 63,961,794 (GRCm39)	M459I	probably benign	Het
Or8k31-ps1	T	C	2: 86,356,513 (GRCm39)	N3D	probably benign	Het
Peg3	A	C	7: 6,711,797 (GRCm39)	S1142A	probably benign	Het
Phf3	T	A	1: 30,859,204 (GRCm39)	K959N	probably damaging	Het
Piezo2	C	T	18: 63,223,950 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,764,036 (GRCm39)	I365V	possibly damaging	Het
Plec	T	A	15: 76,070,818 (GRCm39)	Q860L	probably damaging	Het
Poglut2	C	A	1: 44,149,987 (GRCm39)	E401*	probably null	Het
Ppp5c	T	G	7: 16,740,891 (GRCm39)	D359A	possibly damaging	Het
Pvr	C	T	7: 19,643,139 (GRCm39)	A365T	possibly damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rasa3	A	T	8: 13,635,029 (GRCm39)	L430Q	probably damaging	Het
Rims2	T	G	15: 39,208,911 (GRCm39)	V198G	probably benign	Het
Rnf38	C	T	4: 44,149,224 (GRCm39)	R41H	probably damaging	Het
Rptn	G	A	3: 93,305,558 (GRCm39)	V964I	probably benign	Het
Rrp1b	A	G	17: 32,271,719 (GRCm39)	D263G	probably benign	Het
Sgip1	T	C	4: 102,819,573 (GRCm39)	C560R	probably damaging	Het
Shisal2b	T	C	13: 105,000,214 (GRCm39)	Q3R	probably benign	Het
Sidt1	A	C	16: 44,065,706 (GRCm39)	I734S	probably null	Het
Ssh1	G	T	5: 114,080,636 (GRCm39)	D931E	probably damaging	Het
Thumpd2	C	A	17: 81,351,599 (GRCm39)	R274I	probably damaging	Het
Tpi1	T	C	6: 124,789,426 (GRCm39)	D183G	probably damaging	Het
Trnt1	T	A	6: 106,754,883 (GRCm39)	Y205N	probably damaging	Het
Tsc22d2	G	A	3: 58,324,235 (GRCm39)	V376M	probably damaging	Het
Usp34	T	C	11: 23,402,569 (GRCm39)	V2454A	possibly damaging	Het
Uspl1	C	A	5: 149,124,655 (GRCm39)	S24Y	probably damaging	Het
Vmn1r58	A	C	7: 5,413,451 (GRCm39)	W260G	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zfp868	A	C	8: 70,064,230 (GRCm39)	H368Q	probably 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
R1118:Fhl3	UTSW	4	124,599,584 (GRCm39)	critical splice donor site	probably null
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
R9267:Fhl3	UTSW	4	124,601,498 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCATGAACACTGCTTTCTGTGC -3'
(R):5'- ACATCCGAACTCTTACCTGCG -3'

Sequencing Primer
(F):5'- GCTCCTTCGTGCCTGACAAG -3'
(R):5'- CGCTCCCACCTGTGATG -3'

Posted On

2019-05-30