Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02623:Fhl4'

300938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fhl4

Ensembl Gene

ENSMUSG00000050035

Gene Name

four and a half LIM domains 4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02623

Quality Score

Status

Chromosome

Chromosomal Location

84932883-84938359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84934035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 249 (F249L)

Ref Sequence

ENSEMBL: ENSMUSP00000150570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059383] [ENSMUST00000095383] [ENSMUST00000216771] [ENSMUST00000216889]

AlphaFold

Q8CDC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059383
AA Change: F249L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050054
Gene: ENSMUSG00000050035
AA Change: F249L

Domain	Start	End	E-Value	Type
LIM	38	91	1.69e-12	SMART
LIM	99	152	1.1e-11	SMART
LIM	160	211	2e-14	SMART
LIM	219	275	9.31e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095383

SMART Domains

Protein: ENSMUSP00000093030
Gene: ENSMUSG00000060935

Domain	Start	End	E-Value	Type
Pfam:UPF0444	24	114	1.7e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216771

Predicted Effect

probably damaging
Transcript: ENSMUST00000216889
AA Change: F249L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 90,853,032 (GRCm39)	I35F	probably benign	Het
Acad10	A	G	5: 121,767,993 (GRCm39)	V819A	possibly damaging	Het
Adgrd1	A	T	5: 129,209,809 (GRCm39)	N279Y	probably damaging	Het
Aplp2	C	A	9: 31,089,379 (GRCm39)		probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
B3gnt5	A	G	16: 19,588,360 (GRCm39)	D193G	probably damaging	Het
Cacng1	A	G	11: 107,595,145 (GRCm39)	F144S	probably damaging	Het
Cfap91	T	A	16: 38,154,140 (GRCm39)	D135V	possibly damaging	Het
Dnm3	T	A	1: 162,183,001 (GRCm39)	T105S	probably damaging	Het
Efcab6	T	A	15: 83,763,649 (GRCm39)	I1228F	probably damaging	Het
Erc2	A	G	14: 27,498,937 (GRCm39)	D271G	probably damaging	Het
Fat3	T	C	9: 15,908,433 (GRCm39)	Y2523C	probably damaging	Het
Gm17782	T	C	17: 36,472,958 (GRCm39)		probably benign	Het
Gm4787	A	G	12: 81,425,502 (GRCm39)	Y219H	probably damaging	Het
Hk1	A	G	10: 62,128,138 (GRCm39)	L328P	probably benign	Het
Hspa12a	T	A	19: 58,797,983 (GRCm39)	Y245F	probably benign	Het
Kbtbd12	T	C	6: 88,595,371 (GRCm39)	Y153C	probably damaging	Het
Kcnd2	A	T	6: 21,726,194 (GRCm39)	R562S	probably benign	Het
Lct	T	C	1: 128,235,988 (GRCm39)	S340G	probably benign	Het
Mettl25	C	A	10: 105,662,185 (GRCm39)	G262W	probably damaging	Het
Mindy3	G	A	2: 12,369,294 (GRCm39)	Q142*	probably null	Het
Optn	T	C	2: 5,039,833 (GRCm39)	E318G	probably damaging	Het
Or8j3	A	T	2: 86,028,363 (GRCm39)	H244Q	probably damaging	Het
Pan2	T	C	10: 128,148,768 (GRCm39)	S443P	probably benign	Het
Parva	A	G	7: 112,175,646 (GRCm39)	D259G	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,269 (GRCm39)	L3816Q	probably damaging	Het
Polq	T	C	16: 36,880,737 (GRCm39)	F967S	probably benign	Het
Prdm16	T	C	4: 154,425,334 (GRCm39)	N817S	probably damaging	Het
Ptprt	C	A	2: 161,449,372 (GRCm39)		probably benign	Het
Rbbp8nl	T	A	2: 179,923,236 (GRCm39)	S154C	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slit1	T	C	19: 41,640,122 (GRCm39)	I169V	probably damaging	Het
Smyd4	G	T	11: 75,280,890 (GRCm39)		probably benign	Het
Tial1	A	G	7: 128,045,607 (GRCm39)	Y326H	probably benign	Het
Tmem198b	A	G	10: 128,638,320 (GRCm39)	L81P	probably damaging	Het
Tmem94	T	A	11: 115,687,227 (GRCm39)	C1115*	probably null	Het
Tns3	A	G	11: 8,387,141 (GRCm39)	S1349P	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zfp106	A	T	2: 120,376,395 (GRCm39)		probably null	Het
Zfp119b	T	C	17: 56,246,793 (GRCm39)	E99G	probably damaging	Het
Zfp462	T	A	4: 55,012,986 (GRCm39)	C503S	probably damaging	Het
Zfyve19	G	A	2: 119,042,496 (GRCm39)		probably null	Het
Zxdc	G	T	6: 90,359,352 (GRCm39)	K661N	probably damaging	Het

Other mutations in Fhl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Fhl4	APN	10	84,934,734 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Fhl4	UTSW	10	84,934,293 (GRCm39)	missense	possibly damaging	0.95
R0412:Fhl4	UTSW	10	84,934,680 (GRCm39)	missense	possibly damaging	0.75
R0514:Fhl4	UTSW	10	84,934,250 (GRCm39)	missense	probably damaging	1.00
R1953:Fhl4	UTSW	10	84,934,171 (GRCm39)	missense	probably benign	0.00
R2567:Fhl4	UTSW	10	84,934,644 (GRCm39)	missense	possibly damaging	0.91
R3434:Fhl4	UTSW	10	84,934,308 (GRCm39)	missense	probably benign	0.00
R4489:Fhl4	UTSW	10	84,934,319 (GRCm39)	missense	possibly damaging	0.76
R4512:Fhl4	UTSW	10	84,934,578 (GRCm39)	missense	possibly damaging	0.93
R6588:Fhl4	UTSW	10	84,933,971 (GRCm39)	missense	possibly damaging	0.50
R7699:Fhl4	UTSW	10	84,934,379 (GRCm39)	missense	probably benign	0.09
R7699:Fhl4	UTSW	10	84,934,113 (GRCm39)	missense	probably damaging	0.96
R8197:Fhl4	UTSW	10	84,934,101 (GRCm39)	missense	probably damaging	1.00
R8371:Fhl4	UTSW	10	84,934,637 (GRCm39)	missense	probably benign	0.37

Posted On

2015-04-16