Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01301:Filip1'

73219

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 #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

79712376-79920133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79726462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 719 (D719G)

Ref Sequence

ENSEMBL: ENSMUSP00000091329 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093811
AA Change: D719G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: D719G

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,164,181 (GRCm39)		probably null	Het
Acacb	A	T	5: 114,384,559 (GRCm39)	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,358,710 (GRCm39)	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,551,425 (GRCm39)	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,005,648 (GRCm39)	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,151,154 (GRCm39)		probably null	Het
Chst3	T	C	10: 60,021,654 (GRCm39)	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625 (GRCm39)	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,375,652 (GRCm39)	L45P	probably damaging	Het
Defb21	A	G	2: 152,416,671 (GRCm39)	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,890,793 (GRCm39)	S325P	probably benign	Het
Fam91a1	T	C	15: 58,314,720 (GRCm39)	F534L	probably damaging	Het
Fermt2	T	C	14: 45,702,320 (GRCm39)	E488G	probably damaging	Het
Gad1-ps	A	G	10: 99,281,013 (GRCm39)		noncoding transcript	Het
Glra3	C	A	8: 56,393,997 (GRCm39)	A36E	probably benign	Het
Gm9884	T	A	1: 25,869,729 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,546,770 (GRCm39)		probably benign	Het
Hnrnpm	C	T	17: 33,888,142 (GRCm39)		probably null	Het
Lrrk2	T	A	15: 91,651,542 (GRCm39)	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,195,701 (GRCm39)	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,588,750 (GRCm39)	Y164*	probably null	Het
Msra	T	C	14: 64,447,884 (GRCm39)	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,342,565 (GRCm39)	A749T	probably damaging	Het
Ngdn	G	T	14: 55,254,571 (GRCm39)	A41S	probably benign	Het
Nlrp12	A	T	7: 3,288,722 (GRCm39)	S597T	probably damaging	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,886,899 (GRCm39)	S551P	probably benign	Het
Plekhg5	C	T	4: 152,197,010 (GRCm39)	A752V	probably benign	Het
Prpf4b	T	C	13: 35,068,274 (GRCm39)	S368P	probably benign	Het
Pus7	A	G	5: 23,951,422 (GRCm39)		probably null	Het
Rad23b	T	C	4: 55,366,774 (GRCm39)		probably benign	Het
Rgs13	T	C	1: 144,047,152 (GRCm39)		probably benign	Het
Sfpq	T	C	4: 126,920,553 (GRCm39)		probably benign	Het
Slc9a9	T	A	9: 94,937,512 (GRCm39)	S455T	probably benign	Het
Slco1a1	A	G	6: 141,878,256 (GRCm39)		probably benign	Het
Tmem26	A	T	10: 68,614,436 (GRCm39)	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,211,250 (GRCm39)	I232V	probably benign	Het
Trpm2	A	G	10: 77,759,818 (GRCm39)	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,366,652 (GRCm39)		probably benign	Het
Zfp213	G	T	17: 23,780,391 (GRCm39)	A43D	probably benign	Het
Zfp365	A	G	10: 67,745,184 (GRCm39)	V198A	probably damaging	Het
Zfp395	T	A	14: 65,632,200 (GRCm39)		probably null	Het
Zfp618	G	A	4: 63,051,063 (GRCm39)	V615M	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
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

2013-10-07