Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02395:Filip1'

294297

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 #

IGL02395

Quality Score

Status

Chromosome

Chromosomal Location

79712376-79920133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79805692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 21 (P21S)

Ref Sequence

ENSEMBL: ENSMUSP00000149142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093811] [ENSMUST00000172973] [ENSMUST00000217264]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000093811
AA Change: P21S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: P21S

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

probably benign
Transcript: ENSMUST00000172973
AA Change: P21S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134427
Gene: ENSMUSG00000034898
AA Change: P21S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217264
AA Change: P21S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,617,496 (GRCm39)	C540S	probably damaging	Het
Cdk5	A	G	5: 24,624,635 (GRCm39)	V252A	possibly damaging	Het
Ddi2	C	T	4: 141,422,725 (GRCm39)	R329Q	possibly damaging	Het
Dennd2c	T	A	3: 103,065,081 (GRCm39)	F678I	probably benign	Het
Ect2	T	C	3: 27,204,255 (GRCm39)	D18G	probably damaging	Het
Efcab11	C	A	12: 99,820,868 (GRCm39)		probably null	Het
Eri2	T	C	7: 119,387,033 (GRCm39)	E162G	probably damaging	Het
Fam120b	T	C	17: 15,622,777 (GRCm39)	S252P	probably damaging	Het
Kmt5b	T	A	19: 3,864,887 (GRCm39)	D627E	probably benign	Het
Krt87	T	C	15: 101,385,833 (GRCm39)	D254G	probably benign	Het
Man1a2	T	C	3: 100,551,853 (GRCm39)		probably null	Het
Mapk15	T	C	15: 75,870,019 (GRCm39)	S380P	probably benign	Het
Mrpl48	G	T	7: 100,195,551 (GRCm39)		probably benign	Het
Nme8	T	A	13: 19,862,078 (GRCm39)	I184L	possibly damaging	Het
Nrk	A	G	X: 137,876,935 (GRCm39)	E712G	probably damaging	Het
Or4c110	T	A	2: 88,832,507 (GRCm39)	T42S	probably benign	Het
Or4k6	C	A	14: 50,475,886 (GRCm39)	G152V	probably damaging	Het
Or5m5	A	G	2: 85,814,426 (GRCm39)	T81A	possibly damaging	Het
Or6z6	C	T	7: 6,491,802 (GRCm39)	V17M	possibly damaging	Het
Plekho1	A	T	3: 95,902,876 (GRCm39)	Y36*	probably null	Het
Slco1a5	T	A	6: 142,221,213 (GRCm39)	H11L	probably damaging	Het
Tiam2	T	A	17: 3,471,756 (GRCm39)	M466K	possibly damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tnfrsf22	A	T	7: 143,197,053 (GRCm39)	N95K	probably damaging	Het
Vmn1r90	T	C	7: 14,295,822 (GRCm39)	Y92C	probably damaging	Het
Zc2hc1a	T	A	3: 7,593,684 (GRCm39)	L214*	probably null	Het
Zcchc17	C	A	4: 130,230,920 (GRCm39)	V90F	probably damaging	Het
Zcchc7	T	C	4: 44,761,868 (GRCm39)		probably benign	Het
Zmiz1	T	C	14: 25,657,187 (GRCm39)	V821A	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
IGL02285:Filip1	APN	9	79,727,408 (GRCm39)	missense	probably damaging	1.00
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