Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00420:Filip1'

6148

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 essential (E-score: 0.580) question?

Stock #

IGL00420

Quality Score

Status

Chromosome

Chromosomal Location

79712376-79920133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79725226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1131 (T1131I)

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: T1131I

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

SMART Domains

Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: T1131I

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,931,078 (GRCm39)	S170T	probably benign	Het
Cep55	C	A	19: 38,061,887 (GRCm39)	Q443K	probably damaging	Het
Ces1c	T	C	8: 93,833,301 (GRCm39)	E388G	probably benign	Het
Chd9	T	C	8: 91,752,020 (GRCm39)	S1753P	possibly damaging	Het
Cse1l	T	A	2: 166,769,724 (GRCm39)	I343N	probably damaging	Het
Ctif	T	G	18: 75,570,247 (GRCm39)	M551L	possibly damaging	Het
Cyp2c29	A	G	19: 39,310,143 (GRCm39)		probably benign	Het
Gm13941	G	A	2: 110,922,193 (GRCm39)		probably benign	Het
Klc3	T	C	7: 19,130,220 (GRCm39)	E319G	possibly damaging	Het
Lonrf1	T	C	8: 36,697,231 (GRCm39)		probably benign	Het
Lrba	A	G	3: 86,267,089 (GRCm39)	E1593G	probably benign	Het
Mroh5	G	A	15: 73,664,638 (GRCm39)		probably benign	Het
Mthfr	T	A	4: 148,125,727 (GRCm39)	M20K	probably benign	Het
Nsd2	C	A	5: 34,040,347 (GRCm39)	N960K	possibly damaging	Het
Osgin1	T	A	8: 120,171,785 (GRCm39)	V193E	probably damaging	Het
Pced1a	A	T	2: 130,261,098 (GRCm39)	C420S	probably benign	Het
Pkd2l1	C	T	19: 44,146,075 (GRCm39)		probably null	Het
Plekhg5	C	A	4: 152,186,498 (GRCm39)		probably null	Het
Prkg2	A	G	5: 99,172,400 (GRCm39)	V105A	probably benign	Het
Rab11fip3	A	G	17: 26,286,599 (GRCm39)	I518T	probably benign	Het
Rapgef5	T	A	12: 117,677,917 (GRCm39)	V150D	probably damaging	Het
Sema4c	A	G	1: 36,593,001 (GRCm39)		probably benign	Het
Slc27a2	A	G	2: 126,422,837 (GRCm39)	E354G	probably damaging	Het
Slc28a3	A	T	13: 58,722,114 (GRCm39)	L257I	probably benign	Het
Slc2a8	G	T	2: 32,863,636 (GRCm39)	Q469K	probably damaging	Het
Slc44a1	T	C	4: 53,553,550 (GRCm39)	V519A	possibly damaging	Het
Slco6d1	A	G	1: 98,359,955 (GRCm39)		probably null	Het
Strap	T	C	6: 137,722,521 (GRCm39)	S219P	probably damaging	Het
Tjp1	T	C	7: 64,950,967 (GRCm39)	I1636V	probably benign	Het
Tle1	G	A	4: 72,087,355 (GRCm39)	R126C	possibly damaging	Het
Traf3	T	A	12: 111,205,501 (GRCm39)	I94N	probably damaging	Het
Trps1	G	T	15: 50,710,266 (GRCm39)	T28K	probably benign	Het
Unc13c	T	A	9: 73,643,985 (GRCm39)	T1160S	probably damaging	Het
Vapb	G	A	2: 173,619,964 (GRCm39)	V228M	probably benign	Het
Wdr3	A	T	3: 100,055,424 (GRCm39)	D506E	probably damaging	Het
Zfp119a	A	T	17: 56,172,792 (GRCm39)	C350*	probably null	Het
Zfp51	A	T	17: 21,683,714 (GRCm39)	M110L	probably benign	Het
Zfp687	G	A	3: 94,919,727 (GRCm39)	A15V	probably damaging	Het
Zkscan6	A	G	11: 65,719,287 (GRCm39)	T436A	possibly damaging	Het

Other mutations in Filip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20