Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02285:Filip1'

289941

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Filip1

Ensembl Gene

ENSMUSG00000034898

Gene Name

filamin A interacting protein 1

Synonyms

FILIP, 5730485H21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

IGL02285

Quality Score

Status

Chromosome

Chromosomal Location

79712376-79920133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79727408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 404 (C404R)

Ref Sequence

ENSEMBL: ENSMUSP00000091329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093811] [ENSMUST00000172973]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000093811
AA Change: C404R

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

SMART Domains

Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: C404R

Domain	Start	End	E-Value	Type
Pfam:CortBP2	71	256	2.1e-64	PFAM
coiled coil region	258	540	N/A	INTRINSIC
low complexity region	545	564	N/A	INTRINSIC
low complexity region	579	592	N/A	INTRINSIC
coiled coil region	625	778	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
low complexity region	1126	1140	N/A	INTRINSIC
low complexity region	1168	1180	N/A	INTRINSIC
low complexity region	1198	1214	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172740

Predicted Effect

probably benign
Transcript: ENSMUST00000172973

SMART Domains

Protein: ENSMUSP00000134427
Gene: ENSMUSG00000034898

Domain	Start	End	E-Value	Type
Pfam:CortBP2	65	225	5.2e-74	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	A	G	4: 126,244,670 (GRCm39)	V672A	possibly damaging	Het
Arhgef28	A	T	13: 98,187,536 (GRCm39)	V253D	possibly damaging	Het
Atg3	G	A	16: 44,998,680 (GRCm39)		probably benign	Het
Camsap1	T	C	2: 25,819,814 (GRCm39)	D1557G	probably damaging	Het
Cdh20	A	G	1: 110,065,921 (GRCm39)	T732A	probably damaging	Het
Cert1	A	G	13: 96,752,990 (GRCm39)	H348R	probably benign	Het
Cyp3a13	T	A	5: 137,908,229 (GRCm39)	I207F	probably benign	Het
Dock1	T	G	7: 134,683,649 (GRCm39)		probably null	Het
Drc7	A	T	8: 95,797,861 (GRCm39)		probably benign	Het
Drosha	C	A	15: 12,833,950 (GRCm39)	P18H	unknown	Het
Fbxl5	A	G	5: 43,922,690 (GRCm39)	S243P	possibly damaging	Het
Gm5745	G	A	9: 73,082,780 (GRCm39)		noncoding transcript	Het
Gm7808	T	G	9: 19,839,347 (GRCm39)		probably benign	Het
Gpi-ps	C	T	8: 5,690,373 (GRCm39)		noncoding transcript	Het
Hcn3	T	C	3: 89,060,119 (GRCm39)	D175G	probably damaging	Het
Igkv1-117	A	T	6: 68,098,519 (GRCm39)	M23L	probably benign	Het
Kif26a	A	G	12: 112,123,941 (GRCm39)	D182G	probably damaging	Het
Lmbr1	A	G	5: 29,459,233 (GRCm39)		probably benign	Het
Lypd4	T	A	7: 24,564,865 (GRCm39)	Q91L	probably damaging	Het
Ncoa5	C	T	2: 164,844,760 (GRCm39)	A37T	probably damaging	Het
Or52ad1	G	A	7: 102,995,245 (GRCm39)	R297*	probably null	Het
Or56b1	A	G	7: 104,284,932 (GRCm39)	E17G	probably benign	Het
Or7g17	T	A	9: 18,768,286 (GRCm39)	C122S	possibly damaging	Het
Ppp1r18	A	G	17: 36,178,148 (GRCm39)	K8E	probably damaging	Het
Ppp3ca	A	G	3: 136,634,387 (GRCm39)		probably benign	Het
Ptpn12	T	A	5: 21,260,711 (GRCm39)	Q12L	probably benign	Het
Rpgrip1l	A	G	8: 91,959,535 (GRCm39)	F1122L	possibly damaging	Het
Rps15	G	T	10: 80,129,596 (GRCm39)	M43I	probably benign	Het
Rrp15	T	C	1: 186,453,592 (GRCm39)		probably benign	Het
Sash1	A	T	10: 8,616,098 (GRCm39)	M588K	probably damaging	Het
Slc12a7	A	G	13: 73,943,714 (GRCm39)		probably benign	Het
Slc25a13	A	G	6: 6,042,643 (GRCm39)	V587A	possibly damaging	Het
Sugct	T	C	13: 17,847,181 (GRCm39)	D34G	possibly damaging	Het
Tdpoz2	T	A	3: 93,559,598 (GRCm39)	I125F	probably damaging	Het
Trim52	T	A	14: 106,344,702 (GRCm39)	L120Q	probably damaging	Het
Vmn1r85	T	C	7: 12,818,711 (GRCm39)	I144M	probably damaging	Het
Vmn2r107	T	C	17: 20,595,823 (GRCm39)	F792S	probably damaging	Het
Vsnl1	A	G	12: 11,436,878 (GRCm39)	F34L	probably damaging	Het

Other mutations in Filip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Filip1	APN	9	79,725,226 (GRCm39)	missense	probably damaging	1.00
IGL01101:Filip1	APN	9	79,805,528 (GRCm39)	missense	probably benign	0.44
IGL01301:Filip1	APN	9	79,726,462 (GRCm39)	missense	possibly damaging	0.93
IGL01887:Filip1	APN	9	79,726,899 (GRCm39)	missense	probably benign	0.42
IGL02119:Filip1	APN	9	79,725,548 (GRCm39)	missense	probably benign
IGL02395:Filip1	APN	9	79,805,692 (GRCm39)	missense	probably benign	0.01
IGL03398:Filip1	APN	9	79,726,225 (GRCm39)	missense	probably benign	0.03
IGL03400:Filip1	APN	9	79,727,755 (GRCm39)	missense	probably benign	0.01
IGL03404:Filip1	APN	9	79,725,841 (GRCm39)	missense	probably damaging	0.99
ANU18:Filip1	UTSW	9	79,726,462 (GRCm39)	missense	possibly damaging	0.93
BB010:Filip1	UTSW	9	79,727,329 (GRCm39)	missense	possibly damaging	0.65
BB020:Filip1	UTSW	9	79,727,329 (GRCm39)	missense	possibly damaging	0.65
R0101:Filip1	UTSW	9	79,726,810 (GRCm39)	missense	probably benign	0.04
R0243:Filip1	UTSW	9	79,726,285 (GRCm39)	missense	probably damaging	0.98
R0244:Filip1	UTSW	9	79,726,744 (GRCm39)	missense	possibly damaging	0.87
R0371:Filip1	UTSW	9	79,767,373 (GRCm39)	missense	probably damaging	1.00
R0399:Filip1	UTSW	9	79,725,592 (GRCm39)	missense	possibly damaging	0.71
R0412:Filip1	UTSW	9	79,727,571 (GRCm39)	missense	possibly damaging	0.59
R0671:Filip1	UTSW	9	79,726,672 (GRCm39)	missense	probably damaging	1.00
R1314:Filip1	UTSW	9	79,727,848 (GRCm39)	missense	probably damaging	1.00
R1465:Filip1	UTSW	9	79,805,589 (GRCm39)	missense	probably benign	0.25
R1465:Filip1	UTSW	9	79,805,589 (GRCm39)	missense	probably benign	0.25
R1602:Filip1	UTSW	9	79,727,873 (GRCm39)	missense	probably damaging	0.99
R1801:Filip1	UTSW	9	79,723,128 (GRCm39)	missense	probably damaging	0.98
R1929:Filip1	UTSW	9	79,727,212 (GRCm39)	missense	probably damaging	1.00
R1983:Filip1	UTSW	9	79,767,374 (GRCm39)	missense	probably damaging	1.00
R2066:Filip1	UTSW	9	79,727,498 (GRCm39)	missense	probably damaging	1.00
R2128:Filip1	UTSW	9	79,726,612 (GRCm39)	missense	probably damaging	0.99
R2271:Filip1	UTSW	9	79,727,212 (GRCm39)	missense	probably damaging	1.00
R2411:Filip1	UTSW	9	79,805,715 (GRCm39)	missense	probably damaging	0.98
R3429:Filip1	UTSW	9	79,760,952 (GRCm39)	missense	probably damaging	1.00
R3430:Filip1	UTSW	9	79,760,952 (GRCm39)	missense	probably damaging	1.00
R3945:Filip1	UTSW	9	79,725,649 (GRCm39)	missense	probably benign	0.01
R4007:Filip1	UTSW	9	79,726,009 (GRCm39)	missense	possibly damaging	0.71
R4583:Filip1	UTSW	9	79,723,091 (GRCm39)	missense	possibly damaging	0.76
R4803:Filip1	UTSW	9	79,727,396 (GRCm39)	missense	probably benign	0.05
R4837:Filip1	UTSW	9	79,726,741 (GRCm39)	missense	probably damaging	0.98
R4910:Filip1	UTSW	9	79,725,214 (GRCm39)	missense	probably benign	0.00
R4929:Filip1	UTSW	9	79,727,029 (GRCm39)	missense	probably benign	0.07
R5387:Filip1	UTSW	9	79,725,556 (GRCm39)	missense	probably benign
R5581:Filip1	UTSW	9	79,727,042 (GRCm39)	missense	possibly damaging	0.95
R5808:Filip1	UTSW	9	79,725,983 (GRCm39)	missense	possibly damaging	0.67
R5891:Filip1	UTSW	9	79,727,142 (GRCm39)	missense	possibly damaging	0.69
R6166:Filip1	UTSW	9	79,726,736 (GRCm39)	missense	probably damaging	0.99
R6273:Filip1	UTSW	9	79,723,168 (GRCm39)	missense	probably benign	0.01
R6380:Filip1	UTSW	9	79,726,906 (GRCm39)	missense	probably damaging	0.99
R6385:Filip1	UTSW	9	79,727,813 (GRCm39)	missense	possibly damaging	0.68
R6614:Filip1	UTSW	9	79,723,121 (GRCm39)	missense	probably damaging	1.00
R6715:Filip1	UTSW	9	79,726,040 (GRCm39)	missense	probably benign	0.03
R7047:Filip1	UTSW	9	79,760,916 (GRCm39)	missense	probably damaging	0.98
R7126:Filip1	UTSW	9	79,805,577 (GRCm39)	missense	possibly damaging	0.88
R7144:Filip1	UTSW	9	79,727,495 (GRCm39)	missense	possibly damaging	0.65
R7218:Filip1	UTSW	9	79,725,356 (GRCm39)	missense	probably benign
R7404:Filip1	UTSW	9	79,727,380 (GRCm39)	missense	possibly damaging	0.94
R7702:Filip1	UTSW	9	79,727,931 (GRCm39)	missense	probably benign	0.20
R7866:Filip1	UTSW	9	79,726,225 (GRCm39)	missense	probably benign	0.03
R7933:Filip1	UTSW	9	79,727,329 (GRCm39)	missense	possibly damaging	0.65
R8012:Filip1	UTSW	9	79,725,241 (GRCm39)	missense	probably damaging	0.97
R8097:Filip1	UTSW	9	79,725,541 (GRCm39)	missense	probably benign
R8213:Filip1	UTSW	9	79,725,374 (GRCm39)	missense	probably benign	0.01
R8305:Filip1	UTSW	9	79,727,757 (GRCm39)	nonsense	probably null
R8798:Filip1	UTSW	9	79,727,372 (GRCm39)	missense	possibly damaging	0.94
R9184:Filip1	UTSW	9	79,805,542 (GRCm39)	missense	probably benign	0.03
R9322:Filip1	UTSW	9	79,727,014 (GRCm39)	missense	probably benign	0.01
R9334:Filip1	UTSW	9	79,725,739 (GRCm39)	missense	probably benign	0.32
R9353:Filip1	UTSW	9	79,725,623 (GRCm39)	missense	possibly damaging	0.67
R9541:Filip1	UTSW	9	79,727,135 (GRCm39)	nonsense	probably null
R9607:Filip1	UTSW	9	79,726,402 (GRCm39)	missense	probably damaging	1.00
X0054:Filip1	UTSW	9	79,726,817 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16