Mutagenetix > Incidental Mutation

Incidental Mutation 'R7404:Filip1'

574434

Institutional Source

Beutler Lab

Gene Symbol

Filip1

Ensembl Gene

ENSMUSG00000034898

Gene Name

filamin A interacting protein 1

Synonyms

5730485H21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R7404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79815051-80012851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79820098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 413 (E413V)

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: E413V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: E413V

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

SMART Domains

Protein: ENSMUSP00000134427
Gene: ENSMUSG00000034898

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
Ablim3	C	T	18: 61,822,028	A297T	probably damaging	Het
Adprhl1	T	A	8: 13,225,118	S547C	probably damaging	Het
Ankrd63	G	C	2: 118,703,312	R43G	unknown	Het
Asah2	T	C	19: 32,057,854	T24A	probably benign	Het
Asb17	G	A	3: 153,844,810		probably null	Het
Atp8b5	C	T	4: 43,342,640	T437I	probably benign	Het
Bbs2	T	C	8: 94,082,364	D311G	probably damaging	Het
Birc6	C	T	17: 74,639,794	T2851I	possibly damaging	Het
Cchcr1	T	C	17: 35,524,796	W266R	probably benign	Het
Col14a1	C	A	15: 55,388,628	S560*	probably null	Het
Crocc	G	A	4: 141,026,186	T1317M	possibly damaging	Het
Cxxc1	T	A	18: 74,219,207	V334E	possibly damaging	Het
Cyp3a25	T	A	5: 145,986,825	D336V	probably damaging	Het
D430042O09Rik	A	T	7: 125,865,262	N1267I	probably damaging	Het
Dapk1	A	G	13: 60,719,641	T221A	probably benign	Het
Dnah11	G	T	12: 118,104,808	T1605K	probably benign	Het
Dnah7c	T	C	1: 46,666,063	V2412A	possibly damaging	Het
Ect2l	T	A	10: 18,159,781	D524V	probably damaging	Het
Ehbp1l1	T	C	19: 5,720,844	E223G	possibly damaging	Het
Ephb2	A	T	4: 136,771,213	M185K	probably damaging	Het
Fcer1a	T	C	1: 173,221,516	K243E	probably damaging	Het
Fcgbp	T	A	7: 28,101,507	I1326N	probably damaging	Het
Fgfr1	T	C	8: 25,555,550	V45A	probably benign	Het
Frs3	T	C	17: 47,702,726		probably null	Het
Fstl4	A	G	11: 53,134,071	T257A	probably benign	Het
Gm15922	T	C	7: 3,739,345	Y61C	probably damaging	Het
Golga5	A	T	12: 102,484,519	K477M	probably damaging	Het
Gpr171	A	T	3: 59,098,201	I51K	probably damaging	Het
H1f0	T	A	15: 79,028,880	Y53*	probably null	Het
Hephl1	A	G	9: 15,069,751	V795A	possibly damaging	Het
Hmcn1	A	T	1: 150,720,759	D1775E	probably benign	Het
Hs3st2	A	G	7: 121,500,945	D338G	possibly damaging	Het
Hsd3b6	T	A	3: 98,806,218	Y255F	probably benign	Het
Hspa9	T	C	18: 34,943,276	N328D	possibly damaging	Het
Hvcn1	T	A	5: 122,237,685	I100N	probably damaging	Het
Ifi207	C	T	1: 173,728,928	S748N	possibly damaging	Het
Kcnma1	G	T	14: 24,002,834	T180K	unknown	Het
Kctd16	A	G	18: 40,258,773	D138G	probably damaging	Het
Kifc3	A	G	8: 95,103,464	Y605H	probably benign	Het
Kmt2d	T	A	15: 98,845,495	Q3928L	unknown	Het
Lamb2	C	T	9: 108,487,583	R1179C	probably damaging	Het
Layn	T	A	9: 51,057,370	I358F	possibly damaging	Het
Lrig1	G	A	6: 94,626,471	T232M	probably damaging	Het
Lrp1	T	C	10: 127,582,708	T38A		Het
Map3k14	A	G	11: 103,239,092	V333A	probably benign	Het
Med13	T	C	11: 86,286,446	D1608G	possibly damaging	Het
Mrps31	T	G	8: 22,421,413	S224A	probably benign	Het
Msh6	G	T	17: 87,975,120			Het
Ncapd3	A	G	9: 27,067,019	D838G	probably benign	Het
Nlrp1a	C	A	11: 71,097,093	E1184*	probably null	Het
Npat	T	A	9: 53,554,933		probably null	Het
Nup210	A	T	6: 91,073,245	I414N	probably benign	Het
Olfr1097	A	C	2: 86,890,873	L101V	probably benign	Het
Olfr1346	T	C	7: 6,474,164	L18P	probably damaging	Het
Olfr1484	T	A	19: 13,585,388	I28N	possibly damaging	Het
Olfr187	T	C	16: 59,036,240	T166A	possibly damaging	Het
Olfr378	A	T	11: 73,425,593	L130H	probably damaging	Het
Olfr666	A	T	7: 104,892,974	V218E	possibly damaging	Het
Olfr876	A	T	9: 37,803,961	T17S	possibly damaging	Het
Otud7b	G	C	3: 96,136,625		probably null	Het
Phf11d	A	C	14: 59,359,493	W86G	probably benign	Het
Pik3c2b	T	A	1: 133,090,706	S964T	probably damaging	Het
Plod3	G	A	5: 136,995,047	V687I	probably benign	Het
Poglut1	T	G	16: 38,537,922	Y208S	possibly damaging	Het
Pou1f1	T	A	16: 65,533,863	L253H	probably damaging	Het
Pou2f1	C	T	1: 165,911,386	A166T	unknown	Het
Rhbdl3	C	T	11: 80,346,833	S297L	probably damaging	Het
Rxra	A	T	2: 27,741,854	N179I	probably damaging	Het
Ryr2	C	T	13: 11,735,620	E1922K	probably damaging	Het
Scube1	T	C	15: 83,615,010	Y668C	probably damaging	Het
Sec16b	A	G	1: 157,531,357	Y120C	probably damaging	Het
Sec61b	G	T	4: 47,483,047	K92N	probably damaging	Het
Slc13a3	T	C	2: 165,434,064	N254S	possibly damaging	Het
Slc17a7	T	A	7: 45,172,930	Y397N	probably benign	Het
Slc25a3	A	G	10: 91,117,040	V333A	possibly damaging	Het
Slc7a8	A	T	14: 54,726,826	V390E	probably damaging	Het
Sorbs2	G	A	8: 45,759,196		probably null	Het
Srgap1	T	C	10: 121,785,745	N948D	probably benign	Het
Tacc2	A	T	7: 130,623,336	T584S	probably benign	Het
Tec	A	T	5: 72,763,618	D471E	probably damaging	Het
Tecpr2	C	T	12: 110,931,604	A430V	probably benign	Het
Tmcc2	A	T	1: 132,361,021	D309E	probably damaging	Het
Tmem82	G	A	4: 141,617,431	A67V	possibly damaging	Het
Ttc23l	T	C	15: 10,551,577	Q21R	probably damaging	Het
Ttc37	T	A	13: 76,148,747	Y1074*	probably null	Het
Ubl3	A	G	5: 148,511,954	F26L	probably damaging	Het
Upf2	A	G	2: 6,040,203	E1088G	unknown	Het
Usp9y	T	A	Y: 1,341,780	I1362F	probably benign	Het
Wnk4	T	A	11: 101,268,492		probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Zfc3h1	T	A	10: 115,415,248	V1248D	probably damaging	Het
Zfp12	T	A	5: 143,240,344	V56D	probably damaging	Het

Other mutations in Filip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Filip1	APN	9	79817944	missense	probably damaging	1.00
IGL01101:Filip1	APN	9	79898246	missense	probably benign	0.44
IGL01301:Filip1	APN	9	79819180	missense	possibly damaging	0.93
IGL01887:Filip1	APN	9	79819617	missense	probably benign	0.42
IGL02119:Filip1	APN	9	79818266	missense	probably benign
IGL02285:Filip1	APN	9	79820126	missense	probably damaging	1.00
IGL02395:Filip1	APN	9	79898410	missense	probably benign	0.01
IGL03398:Filip1	APN	9	79818943	missense	probably benign	0.03
IGL03400:Filip1	APN	9	79820473	missense	probably benign	0.01
IGL03404:Filip1	APN	9	79818559	missense	probably damaging	0.99
ANU18:Filip1	UTSW	9	79819180	missense	possibly damaging	0.93
BB010:Filip1	UTSW	9	79820047	missense	possibly damaging	0.65
BB020:Filip1	UTSW	9	79820047	missense	possibly damaging	0.65
R0101:Filip1	UTSW	9	79819528	missense	probably benign	0.04
R0243:Filip1	UTSW	9	79819003	missense	probably damaging	0.98
R0244:Filip1	UTSW	9	79819462	missense	possibly damaging	0.87
R0371:Filip1	UTSW	9	79860091	missense	probably damaging	1.00
R0399:Filip1	UTSW	9	79818310	missense	possibly damaging	0.71
R0412:Filip1	UTSW	9	79820289	missense	possibly damaging	0.59
R0671:Filip1	UTSW	9	79819390	missense	probably damaging	1.00
R1314:Filip1	UTSW	9	79820566	missense	probably damaging	1.00
R1465:Filip1	UTSW	9	79898307	missense	probably benign	0.25
R1465:Filip1	UTSW	9	79898307	missense	probably benign	0.25
R1602:Filip1	UTSW	9	79820591	missense	probably damaging	0.99
R1801:Filip1	UTSW	9	79815846	missense	probably damaging	0.98
R1929:Filip1	UTSW	9	79819930	missense	probably damaging	1.00
R1983:Filip1	UTSW	9	79860092	missense	probably damaging	1.00
R2066:Filip1	UTSW	9	79820216	missense	probably damaging	1.00
R2128:Filip1	UTSW	9	79819330	missense	probably damaging	0.99
R2271:Filip1	UTSW	9	79819930	missense	probably damaging	1.00
R2411:Filip1	UTSW	9	79898433	missense	probably damaging	0.98
R3429:Filip1	UTSW	9	79853670	missense	probably damaging	1.00
R3430:Filip1	UTSW	9	79853670	missense	probably damaging	1.00
R3945:Filip1	UTSW	9	79818367	missense	probably benign	0.01
R4007:Filip1	UTSW	9	79818727	missense	possibly damaging	0.71
R4583:Filip1	UTSW	9	79815809	missense	possibly damaging	0.76
R4803:Filip1	UTSW	9	79820114	missense	probably benign	0.05
R4837:Filip1	UTSW	9	79819459	missense	probably damaging	0.98
R4910:Filip1	UTSW	9	79817932	missense	probably benign	0.00
R4929:Filip1	UTSW	9	79819747	missense	probably benign	0.07
R5387:Filip1	UTSW	9	79818274	missense	probably benign
R5581:Filip1	UTSW	9	79819760	missense	possibly damaging	0.95
R5808:Filip1	UTSW	9	79818701	missense	possibly damaging	0.67
R5891:Filip1	UTSW	9	79819860	missense	possibly damaging	0.69
R6166:Filip1	UTSW	9	79819454	missense	probably damaging	0.99
R6273:Filip1	UTSW	9	79815886	missense	probably benign	0.01
R6380:Filip1	UTSW	9	79819624	missense	probably damaging	0.99
R6385:Filip1	UTSW	9	79820531	missense	possibly damaging	0.68
R6614:Filip1	UTSW	9	79815839	missense	probably damaging	1.00
R6715:Filip1	UTSW	9	79818758	missense	probably benign	0.03
R7047:Filip1	UTSW	9	79853634	missense	probably damaging	0.98
R7126:Filip1	UTSW	9	79898295	missense	possibly damaging	0.88
R7144:Filip1	UTSW	9	79820213	missense	possibly damaging	0.65
R7218:Filip1	UTSW	9	79818074	missense	probably benign
R7702:Filip1	UTSW	9	79820649	missense	probably benign	0.20
R7866:Filip1	UTSW	9	79818943	missense	probably benign	0.03
R7933:Filip1	UTSW	9	79820047	missense	possibly damaging	0.65
R8012:Filip1	UTSW	9	79817959	missense	probably damaging	0.97
R8097:Filip1	UTSW	9	79818259	missense	probably benign
R8213:Filip1	UTSW	9	79818092	missense	probably benign	0.01
R8305:Filip1	UTSW	9	79820475	nonsense	probably null
R8798:Filip1	UTSW	9	79820090	missense	possibly damaging	0.94
R9184:Filip1	UTSW	9	79898260	missense	probably benign	0.03
R9322:Filip1	UTSW	9	79819732	missense	probably benign	0.01
R9334:Filip1	UTSW	9	79818457	missense	probably benign	0.32
R9353:Filip1	UTSW	9	79818341	missense	possibly damaging	0.67
R9541:Filip1	UTSW	9	79819853	nonsense	probably null
R9607:Filip1	UTSW	9	79819120	missense	probably damaging	1.00
X0054:Filip1	UTSW	9	79819535	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTCGTTCAGCAGGTCTTTGG -3'
(R):5'- TTGGCTTATCGCAAAGGATCG -3'

Sequencing Primer
(F):5'- CAGGTCTTTGGTTAGGTTCTTCTCC -3'
(R):5'- CTTATCGCAAAGGATCGAGGAACTG -3'

Posted On

2019-09-13