Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01819:Fhl4'

154465

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: 0.093) question?

Stock #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

85096287-85102495 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85098870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 16 (K16E)

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: K16E

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

SMART Domains

Protein: ENSMUSP00000050054
Gene: ENSMUSG00000050035
AA Change: K16E

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: K16E

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,584,561	S105P	probably benign	Het
Adora2b	A	G	11: 62,265,184	N153S	possibly damaging	Het
Afm	C	T	5: 90,524,906	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,615,721	D397G	probably damaging	Het
Dnah9	A	G	11: 66,108,126	V1032A	probably benign	Het
Elovl7	T	G	13: 108,274,320	V143G	probably damaging	Het
Golga1	C	T	2: 39,034,149	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409	R628*	probably null	Het
Hectd4	A	G	5: 121,328,418	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,515,990	*149R	probably null	Het
Kcnab1	T	A	3: 65,319,454	Y185N	probably damaging	Het
Lars	G	T	18: 42,202,550	T1167K	probably benign	Het
Mib2	A	T	4: 155,655,258		probably null	Het
Mrps2	T	C	2: 28,468,336	V46A	probably benign	Het
Myo18b	T	C	5: 112,878,050	T45A	unknown	Het
Myo1e	C	T	9: 70,343,040		probably benign	Het
Olfr1129	A	G	2: 87,575,479	I132V	probably damaging	Het
Olfr1285	T	A	2: 111,408,733	V106E	probably damaging	Het
Osbp2	A	T	11: 3,717,127	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,519,921	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,487,537	W765R	probably damaging	Het
Phf11c	T	C	14: 59,393,137	T40A	probably benign	Het
Pih1d2	T	A	9: 50,621,877	S268R	probably benign	Het
Pkd1l2	T	C	8: 116,998,174	N2333D	probably damaging	Het
Prex1	A	G	2: 166,621,245	I62T	probably damaging	Het
Ptcd2	T	C	13: 99,326,711	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,980,843	V933F	probably damaging	Het
Sphk2	A	G	7: 45,711,056		probably null	Het
Tfcp2	T	G	15: 100,504,439	E492D	probably benign	Het
Ttn	C	T	2: 76,798,762	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,792,687	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,485,557	S158I	probably benign	Het

Other mutations in Fhl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02623:Fhl4	APN	10	85098171	missense	probably damaging	1.00
PIT4382001:Fhl4	UTSW	10	85098429	missense	possibly damaging	0.95
R0412:Fhl4	UTSW	10	85098816	missense	possibly damaging	0.75
R0514:Fhl4	UTSW	10	85098386	missense	probably damaging	1.00
R1953:Fhl4	UTSW	10	85098307	missense	probably benign	0.00
R2567:Fhl4	UTSW	10	85098780	missense	possibly damaging	0.91
R3434:Fhl4	UTSW	10	85098444	missense	probably benign	0.00
R4489:Fhl4	UTSW	10	85098455	missense	possibly damaging	0.76
R4512:Fhl4	UTSW	10	85098714	missense	possibly damaging	0.93
R6588:Fhl4	UTSW	10	85098107	missense	possibly damaging	0.50
R7699:Fhl4	UTSW	10	85098249	missense	probably damaging	0.96
R7699:Fhl4	UTSW	10	85098515	missense	probably benign	0.09
R8197:Fhl4	UTSW	10	85098237	missense	probably damaging	1.00
R8371:Fhl4	UTSW	10	85098773	missense	probably benign	0.37

Posted On

2014-02-04