Mutagenetix > Incidental Mutation

Incidental Mutation 'R0671:Filip1'

216154

Institutional Source

Beutler Lab

Gene Symbol

Filip1

Ensembl Gene

ENSMUSG00000034898

Gene Name

filamin A interacting protein 1

Synonyms

5730485H21Rik

MMRRC Submission

038856-MU

Accession Numbers

Essential gene?

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

Stock #

R0671 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

79815051-80012851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79819390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 649 (V649E)

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: V649E

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

SMART Domains

Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: V649E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,003,008		probably benign	Het
4930430A15Rik	A	C	2: 111,204,137	V350G	possibly damaging	Het
A530064D06Rik	G	A	17: 48,166,656	T31I	probably benign	Het
Abca17	A	G	17: 24,281,249	F1323L	probably benign	Het
Abcf3	T	A	16: 20,550,487	N206K	probably damaging	Het
Adam10	A	G	9: 70,765,941		probably benign	Het
Adamtsl3	A	T	7: 82,523,182	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,560,905	I413N	probably benign	Het
Asb18	G	T	1: 89,993,171	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,241,879	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,287,320	E2235G	probably damaging	Het
Blnk	G	T	19: 40,937,667	S330*	probably null	Het
Bpnt1	T	G	1: 185,356,611	N319K	probably benign	Het
Brip1	G	A	11: 86,152,667	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,813,806	D288E	probably benign	Het
Calcoco2	A	G	11: 96,107,528	V23A	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,167,285		probably benign	Het
Cdk12	T	C	11: 98,230,109		probably benign	Het
Clec4a3	A	G	6: 122,954,034		probably null	Het
Cpne2	T	A	8: 94,548,342		probably benign	Het
Cyfip1	T	C	7: 55,923,962		probably null	Het
Cyp26c1	A	G	19: 37,686,561	H110R	probably damaging	Het
Cyp2j13	A	G	4: 96,071,695	Y75H	probably damaging	Het
Defb43	T	A	14: 63,011,838	V10D	probably damaging	Het
Dhx36	G	A	3: 62,493,741	S368L	possibly damaging	Het
Dock6	G	A	9: 21,804,627		probably benign	Het
Elp2	T	C	18: 24,612,442		probably benign	Het
Emilin3	A	G	2: 160,908,329	L453P	probably damaging	Het
Eml6	A	T	11: 29,805,065	D903E	probably benign	Het
Ep300	T	C	15: 81,616,134		probably benign	Het
Ep400	G	A	5: 110,688,196	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998	S620P	probably benign	Het
Fbxo42	G	A	4: 141,195,239	V239M	probably damaging	Het
Fermt2	T	C	14: 45,469,319	D340G	probably benign	Het
Fut8	G	A	12: 77,475,017	E477K	probably damaging	Het
Gbp3	G	A	3: 142,565,390	G185D	probably benign	Het
Gclc	G	T	9: 77,786,798	D345Y	probably damaging	Het
Gkn2	A	G	6: 87,375,818	D43G	possibly damaging	Het
Gm960	A	G	19: 4,626,188	S639P	probably damaging	Het
Gnptab	A	G	10: 88,443,304		probably benign	Het
Greb1l	C	T	18: 10,474,303	T206I	probably damaging	Het
Grk4	A	G	5: 34,748,267	N452S	probably benign	Het
Hcn2	G	C	10: 79,734,232		probably null	Het
Hpn	T	C	7: 31,109,160	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,553,280	D3268G	probably damaging	Het
Immt	A	T	6: 71,871,557	Q467L	possibly damaging	Het
Kalrn	T	C	16: 34,116,408	S1636G	probably benign	Het
Kcnh8	T	A	17: 52,978,113	L1037*	probably null	Het
Klhl33	T	C	14: 50,892,394	T548A	probably damaging	Het
Klri2	T	C	6: 129,740,208	I71V	probably benign	Het
Kmt2c	A	T	5: 25,404,365	C254S	probably damaging	Het
Lama3	T	C	18: 12,477,590	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,264,929	Q1702R	probably damaging	Het
Mga	A	T	2: 119,919,910		probably null	Het
Mis18a	A	T	16: 90,720,673	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,781,517	D83G	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,734,394		probably benign	Het
Mrrf	C	T	2: 36,153,698	A149V	probably benign	Het
Mycbp2	A	T	14: 103,194,588	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,692,766	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,807,437	I943T	probably damaging	Het
Ncapd3	T	A	9: 27,087,477	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,249,758		probably null	Het
Ncor2	C	T	5: 125,049,387	A136T	probably benign	Het
Olfr311	T	A	11: 58,841,855	I247N	possibly damaging	Het
Olfr483	C	A	7: 108,104,156	Y282*	probably null	Het
Olfr539	A	G	7: 140,667,677	D123G	probably damaging	Het
Olfr887	T	A	9: 38,085,127	M97K	possibly damaging	Het
Opa1	T	C	16: 29,602,207		probably benign	Het
Pcdhb4	T	C	18: 37,307,742	M35T	probably benign	Het
Per3	T	C	4: 151,028,831	I347V	probably benign	Het
Pex13	G	A	11: 23,665,831	P5L	possibly damaging	Het
Phkb	T	A	8: 85,875,693	W38R	probably damaging	Het
Plekhf1	A	T	7: 38,221,402	D247E	probably benign	Het
Plxnb2	A	G	15: 89,157,981	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,799,332	H1344L	possibly damaging	Het
Ptk7	T	G	17: 46,590,312	N196H	possibly damaging	Het
Rab27a	G	T	9: 73,075,433	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505	C82*	probably null	Het
Rccd1	A	T	7: 80,320,217		probably benign	Het
Riiad1	T	C	3: 94,472,239	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,105,050	E77G	probably damaging	Het
Rnf126	A	T	10: 79,761,607	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,307,468	R623G	probably benign	Het
Rpusd1	T	G	17: 25,728,524	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,663,293		probably null	Het
Scfd1	A	T	12: 51,412,628	Q324L	probably benign	Het
Skint3	G	T	4: 112,255,777	E195*	probably null	Het
Slc7a10	A	T	7: 35,197,333	T165S	probably benign	Het
Smagp	A	G	15: 100,621,852	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,317,341	H172R	probably damaging	Het
Spast	A	G	17: 74,339,451		probably benign	Het
Sspo	G	T	6: 48,490,391		probably benign	Het
Ston2	C	T	12: 91,740,466		probably null	Het
Tas2r103	T	G	6: 133,036,350	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,222,505		probably benign	Het
Telo2	G	A	17: 25,113,165	P143L	probably benign	Het
Tgfbi	A	T	13: 56,638,726	Y674F	probably null	Het
Tha1	T	A	11: 117,873,157		probably benign	Het
Timp4	T	A	6: 115,249,853	S110C	probably damaging	Het
Tlr6	T	C	5: 64,954,592	K324R	probably benign	Het
Tnip3	A	G	6: 65,597,363	E137G	probably damaging	Het
Trak1	T	C	9: 121,448,955		probably null	Het
Trim47	A	G	11: 116,108,352	S233P	probably benign	Het
Tspoap1	A	T	11: 87,762,809	E155V	probably damaging	Het
Tsta3	A	G	15: 75,928,958	V27A	possibly damaging	Het
Uggt1	A	T	1: 36,155,128	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,664,735	S117P	probably benign	Het
Vmn1r124	A	T	7: 21,260,511	V36D	probably damaging	Het
Wdr27	T	C	17: 14,928,396	T112A	probably benign	Het
Wdr90	T	C	17: 25,846,393	T1630A	probably benign	Het
Zfp352	A	G	4: 90,223,919	T99A	probably benign	Het

Other mutations in Filip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Filip1	APN	9	79,817,944 (GRCm38)	missense	probably damaging	1.00
IGL01101:Filip1	APN	9	79,898,246 (GRCm38)	missense	probably benign	0.44
IGL01301:Filip1	APN	9	79,819,180 (GRCm38)	missense	possibly damaging	0.93
IGL01887:Filip1	APN	9	79,819,617 (GRCm38)	missense	probably benign	0.42
IGL02119:Filip1	APN	9	79,818,266 (GRCm38)	missense	probably benign
IGL02285:Filip1	APN	9	79,820,126 (GRCm38)	missense	probably damaging	1.00
IGL02395:Filip1	APN	9	79,898,410 (GRCm38)	missense	probably benign	0.01
IGL03398:Filip1	APN	9	79,818,943 (GRCm38)	missense	probably benign	0.03
IGL03400:Filip1	APN	9	79,820,473 (GRCm38)	missense	probably benign	0.01
IGL03404:Filip1	APN	9	79,818,559 (GRCm38)	missense	probably damaging	0.99
ANU18:Filip1	UTSW	9	79,819,180 (GRCm38)	missense	possibly damaging	0.93
BB010:Filip1	UTSW	9	79,820,047 (GRCm38)	missense	possibly damaging	0.65
BB020:Filip1	UTSW	9	79,820,047 (GRCm38)	missense	possibly damaging	0.65
R0101:Filip1	UTSW	9	79,819,528 (GRCm38)	missense	probably benign	0.04
R0243:Filip1	UTSW	9	79,819,003 (GRCm38)	missense	probably damaging	0.98
R0244:Filip1	UTSW	9	79,819,462 (GRCm38)	missense	possibly damaging	0.87
R0371:Filip1	UTSW	9	79,860,091 (GRCm38)	missense	probably damaging	1.00
R0399:Filip1	UTSW	9	79,818,310 (GRCm38)	missense	possibly damaging	0.71
R0412:Filip1	UTSW	9	79,820,289 (GRCm38)	missense	possibly damaging	0.59
R1314:Filip1	UTSW	9	79,820,566 (GRCm38)	missense	probably damaging	1.00
R1465:Filip1	UTSW	9	79,898,307 (GRCm38)	missense	probably benign	0.25
R1465:Filip1	UTSW	9	79,898,307 (GRCm38)	missense	probably benign	0.25
R1602:Filip1	UTSW	9	79,820,591 (GRCm38)	missense	probably damaging	0.99
R1801:Filip1	UTSW	9	79,815,846 (GRCm38)	missense	probably damaging	0.98
R1929:Filip1	UTSW	9	79,819,930 (GRCm38)	missense	probably damaging	1.00
R1983:Filip1	UTSW	9	79,860,092 (GRCm38)	missense	probably damaging	1.00
R2066:Filip1	UTSW	9	79,820,216 (GRCm38)	missense	probably damaging	1.00
R2128:Filip1	UTSW	9	79,819,330 (GRCm38)	missense	probably damaging	0.99
R2271:Filip1	UTSW	9	79,819,930 (GRCm38)	missense	probably damaging	1.00
R2411:Filip1	UTSW	9	79,898,433 (GRCm38)	missense	probably damaging	0.98
R3429:Filip1	UTSW	9	79,853,670 (GRCm38)	missense	probably damaging	1.00
R3430:Filip1	UTSW	9	79,853,670 (GRCm38)	missense	probably damaging	1.00
R3945:Filip1	UTSW	9	79,818,367 (GRCm38)	missense	probably benign	0.01
R4007:Filip1	UTSW	9	79,818,727 (GRCm38)	missense	possibly damaging	0.71
R4583:Filip1	UTSW	9	79,815,809 (GRCm38)	missense	possibly damaging	0.76
R4803:Filip1	UTSW	9	79,820,114 (GRCm38)	missense	probably benign	0.05
R4837:Filip1	UTSW	9	79,819,459 (GRCm38)	missense	probably damaging	0.98
R4910:Filip1	UTSW	9	79,817,932 (GRCm38)	missense	probably benign	0.00
R4929:Filip1	UTSW	9	79,819,747 (GRCm38)	missense	probably benign	0.07
R5387:Filip1	UTSW	9	79,818,274 (GRCm38)	missense	probably benign
R5581:Filip1	UTSW	9	79,819,760 (GRCm38)	missense	possibly damaging	0.95
R5808:Filip1	UTSW	9	79,818,701 (GRCm38)	missense	possibly damaging	0.67
R5891:Filip1	UTSW	9	79,819,860 (GRCm38)	missense	possibly damaging	0.69
R6166:Filip1	UTSW	9	79,819,454 (GRCm38)	missense	probably damaging	0.99
R6273:Filip1	UTSW	9	79,815,886 (GRCm38)	missense	probably benign	0.01
R6380:Filip1	UTSW	9	79,819,624 (GRCm38)	missense	probably damaging	0.99
R6385:Filip1	UTSW	9	79,820,531 (GRCm38)	missense	possibly damaging	0.68
R6614:Filip1	UTSW	9	79,815,839 (GRCm38)	missense	probably damaging	1.00
R6715:Filip1	UTSW	9	79,818,758 (GRCm38)	missense	probably benign	0.03
R7047:Filip1	UTSW	9	79,853,634 (GRCm38)	missense	probably damaging	0.98
R7126:Filip1	UTSW	9	79,898,295 (GRCm38)	missense	possibly damaging	0.88
R7144:Filip1	UTSW	9	79,820,213 (GRCm38)	missense	possibly damaging	0.65
R7218:Filip1	UTSW	9	79,818,074 (GRCm38)	missense	probably benign
R7404:Filip1	UTSW	9	79,820,098 (GRCm38)	missense	possibly damaging	0.94
R7702:Filip1	UTSW	9	79,820,649 (GRCm38)	missense	probably benign	0.20
R7866:Filip1	UTSW	9	79,818,943 (GRCm38)	missense	probably benign	0.03
R7933:Filip1	UTSW	9	79,820,047 (GRCm38)	missense	possibly damaging	0.65
R8012:Filip1	UTSW	9	79,817,959 (GRCm38)	missense	probably damaging	0.97
R8097:Filip1	UTSW	9	79,818,259 (GRCm38)	missense	probably benign
R8213:Filip1	UTSW	9	79,818,092 (GRCm38)	missense	probably benign	0.01
R8305:Filip1	UTSW	9	79,820,475 (GRCm38)	nonsense	probably null
R8798:Filip1	UTSW	9	79,820,090 (GRCm38)	missense	possibly damaging	0.94
R9184:Filip1	UTSW	9	79,898,260 (GRCm38)	missense	probably benign	0.03
R9322:Filip1	UTSW	9	79,819,732 (GRCm38)	missense	probably benign	0.01
R9334:Filip1	UTSW	9	79,818,457 (GRCm38)	missense	probably benign	0.32
R9353:Filip1	UTSW	9	79,818,341 (GRCm38)	missense	possibly damaging	0.67
R9541:Filip1	UTSW	9	79,819,853 (GRCm38)	nonsense	probably null
R9607:Filip1	UTSW	9	79,819,120 (GRCm38)	missense	probably damaging	1.00
X0054:Filip1	UTSW	9	79,819,535 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCCTGTAAGTCACGACTTTTAGCC -3'
(R):5'- CCTCACGAAGCTGAAGTCCTTCAC -3'

Sequencing Primer
(F):5'- AACCTGTGTCGCAGCTC -3'
(R):5'- TCCTGTGAACTGAGCTGC -3'

Posted On

2014-07-25