Mutagenetix > Incidental Mutations

Incidental Mutation 'R7143:Fhl2'

553506

Institutional Source

Beutler Lab

Gene Symbol

Fhl2

Ensembl Gene

ENSMUSG00000008136

Gene Name

four and a half LIM domains 2

Synonyms

SLIM3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7143 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43123074-43196984 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43141851 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 60 (H60N)

Ref Sequence

ENSEMBL: ENSMUSP00000008280 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000008280
AA Change: H60N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: H60N

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 damaging
Transcript: ENSMUST00000185893
AA Change: H60N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: H60N

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 benign
Transcript: ENSMUST00000187357

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	C	T	7: 104,059,215	C129Y	probably damaging	Het
Agbl4	A	G	4: 111,617,136	N374S	probably damaging	Het
Agl	A	G	3: 116,792,021	S153P	probably damaging	Het
Akap6	T	G	12: 52,887,364	D546E	probably benign	Het
Ankrd17	C	A	5: 90,285,961	A650S	possibly damaging	Het
Ankrd53	A	G	6: 83,762,911	R16G	possibly damaging	Het
Apba2	T	C	7: 64,744,417	L570P	probably damaging	Het
Asap1	A	G	15: 64,191,528	F101L	probably damaging	Het
Cadm4	T	A	7: 24,499,567	I89N	possibly damaging	Het
Cadps	C	T	14: 12,491,838	V771I	probably benign	Het
Cenph	A	G	13: 100,761,777	V206A	possibly damaging	Het
Cenpn	A	G	8: 116,937,227	T253A	probably benign	Het
Cep120	C	T	18: 53,683,385	G939R	probably benign	Het
Cfap57	G	A	4: 118,620,709		probably benign	Het
Clip1	T	C	5: 123,653,610	I166V	probably benign	Het
Cstf3	T	A	2: 104,646,616	V144E	probably benign	Het
Cyp21a1	T	A	17: 34,802,326	H357L	probably damaging	Het
Cyth3	T	A	5: 143,684,396	V12E	unknown	Het
Dgat2	T	C	7: 99,157,124	I289V	probably benign	Het
Dip2a	A	G	10: 76,297,791	C527R	probably damaging	Het
Dnah17	A	C	11: 118,086,130	W1879G	probably damaging	Het
Dnaic2	A	G	11: 114,754,250	T504A	possibly damaging	Het
Efl1	C	T	7: 82,762,680	P759L	probably damaging	Het
Egfr	A	C	11: 16,871,627	I351L	probably benign	Het
Ercc6	G	A	14: 32,570,305	E1209K	probably damaging	Het
Fam135b	A	T	15: 71,479,151	M292K	probably benign	Het
Fbxl7	C	A	15: 26,543,158	V468L	probably benign	Het
G6pc	G	T	11: 101,370,723	R83L	probably damaging	Het
Gata4	C	A	14: 63,204,617	R252L	probably damaging	Het
Glt8d1	T	A	14: 31,006,645	I10N	probably damaging	Het
Gm10471	T	A	5: 26,085,676	I166F	probably benign	Het
Gm10803	T	A	2: 93,563,959	Y25*	probably null	Het
Gm19345	T	C	7: 19,857,834	F108S	unknown	Het
Gm4952	A	G	19: 12,618,407	T54A	possibly damaging	Het
Gprc6a	C	T	10: 51,614,890	R921H	probably benign	Het
Hc	A	T	2: 35,050,438	H129Q	probably benign	Het
Heatr5a	T	C	12: 51,961,468	R31G	probably benign	Het
Hephl1	T	C	9: 15,060,810	K945E	possibly damaging	Het
Ik	G	T	18: 36,751,177	M237I	probably damaging	Het
Izumo1	T	A	7: 45,627,095	S361T	probably benign	Het
Kcnq4	A	G	4: 120,711,239	F427L	probably benign	Het
Kifap3	A	T	1: 163,825,859	N338I	possibly damaging	Het
Kifap3	T	A	1: 163,856,040	M430K	possibly damaging	Het
Lamb3	A	G	1: 193,304,565	E53G	probably damaging	Het
Lrp1b	A	T	2: 41,312,643	I1266K		Het
Nat8	A	T	6: 85,830,503	I216K	probably benign	Het
Ncapd2	T	C	6: 125,179,561	I454V	probably benign	Het
Nlrp4f	A	T	13: 65,195,306	V153E	probably damaging	Het
Nlrp4f	G	C	13: 65,199,352	Q9E	possibly damaging	Het
Npy2r	A	T	3: 82,540,943	I175N	probably benign	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr1247	T	C	2: 89,610,019	M28V	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,874	T221A	probably benign	Het
Olfr665	C	T	7: 104,881,186	P160S	probably damaging	Het
Pcdh9	T	C	14: 93,888,272	N154S	probably damaging	Het
Pcdhb2	A	T	18: 37,295,881	E302D	probably benign	Het
Pclo	T	A	5: 14,858,822	V5048E	unknown	Het
Pcnt	A	G	10: 76,389,060	L1870S	possibly damaging	Het
Pigc	T	C	1: 161,970,592	Y48H	probably damaging	Het
Pisd	C	T	5: 32,738,502	V241I	possibly damaging	Het
Pkhd1l1	A	T	15: 44,573,637	M3464L	possibly damaging	Het
Pofut2	T	A	10: 77,259,426	I35N	probably benign	Het
Prss27	A	G	17: 24,045,658	Y265C	probably damaging	Het
Prss56	T	A	1: 87,188,153	I583K	probably benign	Het
Rnpep	T	C	1: 135,283,749	E87G	probably benign	Het
Shtn1	T	C	19: 59,018,906	H304R	probably damaging	Het
Slc23a4	A	T	6: 34,978,913	I62N	probably damaging	Het
Slc35e2	A	T	4: 155,618,594	I355F	probably benign	Het
Snx25	T	C	8: 46,035,715	I868V	possibly damaging	Het
Spatc1l	T	A	10: 76,569,931	L323Q	probably damaging	Het
Taok1	A	G	11: 77,537,988	V962A	probably benign	Het
Tas2r140	A	G	6: 133,055,519	I92T	probably benign	Het
Trim17	C	A	11: 58,965,184	Y22*	probably null	Het
Tti1	T	A	2: 158,007,676	M548L	probably benign	Het
Unc93b1	T	C	19: 3,935,204	V4A	unknown	Het
Utp3	G	C	5: 88,554,517		probably benign	Het
Vmn1r225	A	T	17: 20,502,384	Y29F	probably benign	Het
Vmn1r34	A	T	6: 66,637,664	I30N	probably benign	Het
Vmn2r67	T	A	7: 85,152,638	M152L	probably benign	Het
Wdr20rt	T	G	12: 65,225,918	F52V	probably benign	Het
Zfp869	G	T	8: 69,706,656	H422Q	probably damaging	Het

Other mutations in Fhl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Fhl2	APN	1	43131681	missense	probably benign	0.37
IGL01941:Fhl2	APN	1	43131672	nonsense	probably null
IGL02216:Fhl2	APN	1	43131719	missense	probably null	0.84
IGL02335:Fhl2	APN	1	43128390	nonsense	probably null
IGL02800:Fhl2	APN	1	43128402	missense	probably benign	0.28
IGL03330:Fhl2	APN	1	43153191	missense	probably damaging	1.00
IGL02799:Fhl2	UTSW	1	43128402	missense	probably benign	0.28
IGL02802:Fhl2	UTSW	1	43123601	nonsense	probably null
R0103:Fhl2	UTSW	1	43153221	missense	probably benign	0.00
R0103:Fhl2	UTSW	1	43153221	missense	probably benign	0.00
R0938:Fhl2	UTSW	1	43141706	missense	possibly damaging	0.83
R6459:Fhl2	UTSW	1	43123653	missense	possibly damaging	0.85
R6676:Fhl2	UTSW	1	43131810	missense	possibly damaging	0.83
R7048:Fhl2	UTSW	1	43123648	missense	probably damaging	1.00
X0019:Fhl2	UTSW	1	43128409	missense	possibly damaging	0.73
X0021:Fhl2	UTSW	1	43153143	missense	probably benign
X0028:Fhl2	UTSW	1	43128300	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CGAATGATAAAGGCATGCGTTC -3'
(R):5'- TCTCAGAAACAAGGCCTCCTAG -3'

Sequencing Primer
(F):5'- TAAAGGCATGCGTTCTGACC -3'
(R):5'- AAGGCCTCCTAGTTCAGTGTCTAAG -3'

Posted On

2019-05-15