Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03398:Filip1'

421329

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 #

IGL03398

Quality Score

Status

Chromosome

Chromosomal Location

79712376-79920133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79726225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 798 (V798A)

Ref Sequence

ENSEMBL: ENSMUSP00000091329 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000093811
AA Change: V798A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: V798A

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,039,566 (GRCm39)	I248L	probably benign	Het
Ackr2	C	T	9: 121,737,654 (GRCm39)	L10F	probably damaging	Het
Ankhd1	A	G	18: 36,789,890 (GRCm39)		probably benign	Het
Arhgap5	A	G	12: 52,564,094 (GRCm39)	E355G	probably damaging	Het
Arhgef12	A	G	9: 42,889,522 (GRCm39)	V1031A	probably damaging	Het
Ash1l	T	A	3: 88,914,527 (GRCm39)	V1719E	probably benign	Het
Chd5	A	G	4: 152,461,539 (GRCm39)	N1284D	probably damaging	Het
Dennd4a	A	G	9: 64,779,164 (GRCm39)	D549G	probably benign	Het
Dhx32	A	G	7: 133,361,254 (GRCm39)	Y60H	probably damaging	Het
Elapor1	A	T	3: 108,368,537 (GRCm39)	V818D	possibly damaging	Het
Fcamr	A	G	1: 130,730,985 (GRCm39)	I79M	probably damaging	Het
Ifi208	A	C	1: 173,510,817 (GRCm39)	N324T	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nsl1	T	C	1: 190,814,361 (GRCm39)		probably benign	Het
Parp6	T	C	9: 59,548,336 (GRCm39)	I483T	probably damaging	Het
Ppp2r5e	A	C	12: 75,509,179 (GRCm39)	W367G	possibly damaging	Het
Pramel31	A	G	4: 144,090,061 (GRCm39)	D367G	probably damaging	Het
Serpini2	G	A	3: 75,166,852 (GRCm39)	T135I	probably benign	Het
Sgsm1	T	A	5: 113,403,182 (GRCm39)	N955I	possibly damaging	Het
Tenm2	A	G	11: 35,915,370 (GRCm39)	Y2055H	probably damaging	Het
Tex2	T	C	11: 106,459,098 (GRCm39)	N111D	probably damaging	Het
Ttc5	T	C	14: 51,018,964 (GRCm39)	E51G	possibly damaging	Het
Usp47	A	T	7: 111,673,710 (GRCm39)	E334V	probably damaging	Het
Wdfy4	T	C	14: 32,769,247 (GRCm39)	K2227E	probably benign	Het
Xkr4	T	C	1: 3,286,798 (GRCm39)	E464G	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
IGL02395:Filip1	APN	9	79,805,692 (GRCm39)	missense	probably benign	0.01
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

2016-08-02