Mutagenetix > Incidental Mutation

Incidental Mutation 'R7933:Filip1'

643712

Institutional Source

Beutler Lab

Gene Symbol

Filip1

Ensembl Gene

ENSMUSG00000034898

Gene Name

filamin A interacting protein 1

Synonyms

FILIP, 5730485H21Rik

MMRRC Submission

045979-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R7933 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

79712376-79920133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 79727329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 430 (K430T)

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: K430T

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: K430T

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

Meta Mutation Damage Score

0.1040

Coding Region Coverage

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

Validation Efficiency

98% (42/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,833,227 (GRCm39)	V125A	unknown	Het
Adam34	T	A	8: 44,103,911 (GRCm39)	H578L	probably damaging	Het
Agap2	C	A	10: 126,922,789 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,400,811 (GRCm39)	M678K	probably benign	Het
Ankrd27	A	G	7: 35,301,074 (GRCm39)		probably benign	Het
Atosb	A	T	4: 43,035,919 (GRCm39)	C271S	probably benign	Het
Atrn	T	C	2: 130,836,986 (GRCm39)	L1150P	probably damaging	Het
Bbs1	T	A	19: 4,941,678 (GRCm39)		probably benign	Het
Camta1	C	T	4: 151,168,214 (GRCm39)	E279K	probably damaging	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Col11a2	A	T	17: 34,275,029 (GRCm39)	K400*	probably null	Het
Cpsf4	T	A	5: 145,104,168 (GRCm39)	M1K	probably null	Het
Dnah12	A	T	14: 26,488,072 (GRCm39)	Q992L	probably benign	Het
Dnajc7	T	C	11: 100,487,038 (GRCm39)	Y145C	probably damaging	Het
Eml5	A	T	12: 98,810,279 (GRCm39)	D892E	possibly damaging	Het
Fam193a	A	G	5: 34,623,539 (GRCm39)	K23E	possibly damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Hip1	A	T	5: 135,489,310 (GRCm39)	N45K	probably damaging	Het
Hivep2	T	C	10: 14,003,581 (GRCm39)	S60P	probably damaging	Het
Ighv1-53	A	T	12: 115,122,029 (GRCm39)	C115*	probably null	Het
Macf1	T	C	4: 123,303,444 (GRCm39)	T353A	probably benign	Het
Mast3	A	T	8: 71,239,279 (GRCm39)	V433E	probably damaging	Het
Mast4	A	T	13: 102,909,071 (GRCm39)	M660K	probably damaging	Het
Nr2e1	T	C	10: 42,439,379 (GRCm39)	Y380C	probably damaging	Het
Or10g9b	T	C	9: 39,918,431 (GRCm39)		probably benign	Het
Or5b111	T	A	19: 13,291,569 (GRCm39)	M27L	probably benign	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Slc6a1	T	A	6: 114,288,859 (GRCm39)	W473R	probably damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata31d1e	A	G	13: 59,891,565 (GRCm39)	L85P	probably damaging	Het
Sprr3	T	C	3: 92,364,515 (GRCm39)	I110V	possibly damaging	Het
Ston1	A	G	17: 88,943,572 (GRCm39)	E326G	probably benign	Het
Tapbpl	T	G	6: 125,207,233 (GRCm39)	Q152P	probably damaging	Het
Tectb	C	T	19: 55,183,105 (GRCm39)	L319F	possibly damaging	Het
Tpp2	G	A	1: 44,000,121 (GRCm39)	G413D	probably damaging	Het
Tpsg1	A	G	17: 25,592,178 (GRCm39)	H84R	probably damaging	Het
Usp24	A	G	4: 106,285,686 (GRCm39)	N2437S	probably benign	Het
Usp32	T	C	11: 84,897,885 (GRCm39)	Q1152R	probably damaging	Het
Vmn2r6	T	C	3: 64,467,224 (GRCm39)	T92A	probably benign	Het
Xpo7	A	G	14: 70,944,788 (GRCm39)	V35A	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp169	A	G	13: 48,643,957 (GRCm39)	V390A	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGGACTTCAGCTTCGTGAGG -3'
(R):5'- TGGAAACTCCAGTCTCATGGC -3'

Sequencing Primer
(F):5'- GAGGCTTAACTCAACCTTCTCCAG -3'
(R):5'- AACTCCAGTCTCATGGCGGAAG -3'

Posted On

2020-08-07