Mutagenetix > Incidental Mutation

Incidental Mutation 'R1809:Filip1l'

203744

Institutional Source

Beutler Lab

Gene Symbol

Filip1l

Ensembl Gene

ENSMUSG00000043336

Gene Name

filamin A interacting protein 1-like

Synonyms

MMRRC Submission

039838-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57353093-57573126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57506660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 18 (R18G)

Ref Sequence

ENSEMBL: ENSMUSP00000124179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099667] [ENSMUST00000114371] [ENSMUST00000159816]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099667
AA Change: R18G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133252
Gene: ENSMUSG00000043336
AA Change: R18G

Domain	Start	End	E-Value	Type
Pfam:CortBP2	55	201	2.6e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114371

SMART Domains

Protein: ENSMUSP00000110011
Gene: ENSMUSG00000022748

Domain	Start	End	E-Value	Type
low complexity region	13	29	N/A	INTRINSIC
Pfam:CMS1	42	266	7.9e-35	PFAM
Pfam:DEAD	127	234	4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159816
AA Change: R18G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: R18G

Domain	Start	End	E-Value	Type
Pfam:CortBP2	61	246	1.8e-65	PFAM
low complexity region	271	286	N/A	INTRINSIC
low complexity region	483	495	N/A	INTRINSIC
coiled coil region	609	780	N/A	INTRINSIC
low complexity region	827	840	N/A	INTRINSIC
low complexity region	1106	1117	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231282

Meta Mutation Damage Score

0.0887

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (107/111)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930502E18Rik	A	G	X: 53,733,749	E99G	probably benign	Het
9130409I23Rik	T	C	1: 181,059,687	I279T	probably damaging	Het
Ablim2	A	G	5: 35,843,270		probably benign	Het
Adamts20	C	T	15: 94,341,087	S750N	probably damaging	Het
Adh6a	G	A	3: 138,330,961	R370H	possibly damaging	Het
Akr1b7	A	G	6: 34,419,111	N183D	probably damaging	Het
Aktip	A	T	8: 91,129,720	I43N	probably damaging	Het
Ankrd26	A	T	6: 118,525,922		probably benign	Het
Ano9	G	A	7: 141,108,804	T144I	possibly damaging	Het
Anpep	G	T	7: 79,841,823	D143E	probably benign	Het
Aox2	C	A	1: 58,294,325	Q234K	probably benign	Het
Ap1g1	C	G	8: 109,833,182		probably benign	Het
Arhgef4	G	A	1: 34,810,555		probably null	Het
Armc4	T	A	18: 7,211,630	Y748F	probably benign	Het
Arsj	A	G	3: 126,438,295	Y230C	possibly damaging	Het
Asmt	C	T	X: 170,675,745		probably benign	Het
Astl	A	T	2: 127,345,485	K72N	probably damaging	Het
Atp2b2	G	A	6: 113,803,743		probably benign	Het
Baiap2l1	A	C	5: 144,324,555		probably null	Het
C7	A	T	15: 5,034,339	N193K	probably damaging	Het
Cacna2d4	G	T	6: 119,270,824	R362L	probably damaging	Het
Cct4	T	A	11: 22,997,615	D189E	probably benign	Het
Cd300lg	G	A	11: 102,043,112	G62S	probably benign	Het
Cdk14	T	A	5: 5,010,901	M307L	probably damaging	Het
Cfi	G	A	3: 129,873,119		probably null	Het
Clec2g	G	T	6: 128,980,310		probably null	Het
Cntnap2	T	C	6: 46,988,675	S807P	probably damaging	Het
Col6a3	T	A	1: 90,827,949	H206L	probably damaging	Het
Cyp2c23	A	T	19: 44,021,558		probably benign	Het
Dlec1	T	C	9: 119,136,699	V1058A	probably benign	Het
Dpp9	A	G	17: 56,199,038	Y454H	probably damaging	Het
Drosha	G	A	15: 12,890,112	G920R	probably null	Het
Duox2	A	G	2: 122,283,897	S1142P	possibly damaging	Het
Fam13a	C	T	6: 58,965,060		probably null	Het
Foxa1	A	G	12: 57,542,741	V231A	probably damaging	Het
Gm11756	A	G	4: 73,917,517	F237L	probably benign	Het
Gm4787	A	T	12: 81,378,529	M285K	possibly damaging	Het
Gm5084	T	A	13: 60,212,506		noncoding transcript	Het
Gm6788	G	A	19: 28,763,186		noncoding transcript	Het
Gm9922	G	T	14: 101,729,405		probably benign	Het
Gtf3c4	A	T	2: 28,833,976	Y440*	probably null	Het
Helq	A	G	5: 100,773,954	S795P	probably damaging	Het
Helz	T	A	11: 107,599,171	S151T	possibly damaging	Het
Irgm1	T	C	11: 48,866,613	T124A	probably benign	Het
Itgam	C	T	7: 128,070,937	P134S	possibly damaging	Het
Kdm6a	T	C	X: 18,236,684	Y217H	probably benign	Het
Kif6	T	C	17: 49,901,784	L744P	probably benign	Het
Kmt2c	C	T	5: 25,284,192	R1203H	probably damaging	Het
Ksr2	A	G	5: 117,555,470	T328A	probably damaging	Het
Lig1	T	C	7: 13,300,355		probably benign	Het
Lpar3	G	A	3: 146,240,548		probably benign	Het
Lrrk2	T	C	15: 91,699,892	F285S	possibly damaging	Het
March7	A	G	2: 60,232,293	D148G	probably benign	Het
Mcee	T	C	7: 64,400,301	L60S	probably damaging	Het
Mob2	A	G	7: 142,016,374	I81T	probably damaging	Het
Mphosph8	T	A	14: 56,672,452	D87E	probably damaging	Het
Myo1g	T	C	11: 6,512,283	T560A	probably benign	Het
Nagk	C	T	6: 83,797,187	T42I	probably benign	Het
Naip1	G	T	13: 100,426,239	T806K	probably benign	Het
Ncor2	A	G	5: 125,118,793		probably benign	Het
Ocln	G	T	13: 100,511,459	Y401*	probably null	Het
Olfr922	G	A	9: 38,816,147	V215I	probably benign	Het
Oma1	T	A	4: 103,325,177	N292K	probably damaging	Het
Ovch2	T	A	7: 107,790,205		probably null	Het
Pcdhb16	T	C	18: 37,478,388	F134L	probably damaging	Het
Pipox	A	T	11: 77,881,534	Y337N	probably benign	Het
Polr3b	A	G	10: 84,693,001	D763G	probably damaging	Het
Pygo1	T	A	9: 72,944,796	N88K	probably damaging	Het
Rab3gap1	T	C	1: 127,934,514	M674T	probably damaging	Het
Rbm25	T	C	12: 83,672,727		probably benign	Het
Rbm26	C	T	14: 105,117,106		probably benign	Het
Rbms2	G	A	10: 128,138,186	T187I	possibly damaging	Het
Rnase11	T	A	14: 51,049,727	R123S	probably benign	Het
Rngtt	A	G	4: 33,443,614	N485D	probably benign	Het
Rp1l1	A	T	14: 64,027,966	M334L	probably benign	Het
Rps9	T	A	7: 3,704,727	L56Q	probably damaging	Het
Saysd1	C	A	14: 20,083,102		probably benign	Het
Sema4d	C	T	13: 51,713,691		probably null	Het
Shisa5	A	T	9: 109,040,930	D34V	probably damaging	Het
Skil	A	G	3: 31,117,506	D547G	probably damaging	Het
Slc2a5	T	A	4: 150,143,057	F444L	probably damaging	Het
Slc9b2	T	G	3: 135,317,131	C10G	possibly damaging	Het
Sorcs2	G	T	5: 36,229,220		probably benign	Het
Stk17b	T	G	1: 53,765,981	K140N	possibly damaging	Het
Stradb	T	A	1: 58,994,390	L404Q	possibly damaging	Het
Synj2	T	C	17: 6,026,551	M432T	possibly damaging	Het
Tanc1	G	T	2: 59,800,097	R800L	probably damaging	Het
Tenm4	A	G	7: 96,873,780	M1473V	probably benign	Het
Tesc	A	G	5: 118,061,602	I190V	probably benign	Het
Tex15	T	C	8: 33,574,234	F1231L	probably benign	Het
Thrsp	T	C	7: 97,417,125	I127V	probably benign	Het
Tlr6	A	T	5: 64,953,712	C617*	probably null	Het
Trank1	A	T	9: 111,392,825	I2877F	probably benign	Het
Ucp1	T	C	8: 83,297,867	S274P	probably damaging	Het
Ucp2	T	A	7: 100,498,399	V195E	probably damaging	Het
Vars2	T	C	17: 35,662,216	T394A	probably damaging	Het
Vmn1r1	A	G	1: 182,157,806	V98A	possibly damaging	Het
Vmn1r225	A	G	17: 20,502,656	I120V	probably benign	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r25	A	G	6: 123,825,378	V522A	probably benign	Het
Vmn2r70	T	C	7: 85,565,922	I135V	probably benign	Het
Vwf	T	C	6: 125,590,175		probably benign	Het
Zcchc11	T	A	4: 108,549,355	H1373Q	probably damaging	Het
Zfp446	T	C	7: 12,979,121	F29L	probably damaging	Het

Other mutations in Filip1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Filip1l	APN	16	57572348	nonsense	probably null
IGL01393:Filip1l	APN	16	57572223	missense	probably damaging	1.00
IGL01886:Filip1l	APN	16	57571250	missense	possibly damaging	0.47
IGL02336:Filip1l	APN	16	57571733	splice site	probably null
IGL02503:Filip1l	APN	16	57571575	missense	probably benign	0.00
IGL02608:Filip1l	APN	16	57572106	missense	probably benign	0.05
IGL02681:Filip1l	APN	16	57571779	missense	probably benign	0.10
IGL02687:Filip1l	APN	16	57571127	missense	probably benign	0.30
IGL02982:Filip1l	APN	16	57572232	missense	probably damaging	1.00
IGL03062:Filip1l	APN	16	57506804	missense	probably damaging	1.00
R1027:Filip1l	UTSW	16	57569688	missense	probably benign
R1347:Filip1l	UTSW	16	57570987	missense	probably damaging	1.00
R1347:Filip1l	UTSW	16	57570987	missense	probably damaging	1.00
R1384:Filip1l	UTSW	16	57571289	missense	possibly damaging	0.61
R1655:Filip1l	UTSW	16	57571851	missense	probably damaging	1.00
R1764:Filip1l	UTSW	16	57570038	missense	probably damaging	1.00
R1983:Filip1l	UTSW	16	57571274	missense	probably damaging	0.98
R2504:Filip1l	UTSW	16	57570662	missense	possibly damaging	0.76
R2504:Filip1l	UTSW	16	57571047	missense	probably damaging	0.97
R3117:Filip1l	UTSW	16	57506732	missense	probably benign	0.07
R3844:Filip1l	UTSW	16	57572427	missense	probably benign	0.15
R3871:Filip1l	UTSW	16	57513286	missense	probably damaging	0.97
R4231:Filip1l	UTSW	16	57506768	missense	probably benign
R4391:Filip1l	UTSW	16	57570792	nonsense	probably null
R4700:Filip1l	UTSW	16	57570695	missense	probably benign	0.00
R4999:Filip1l	UTSW	16	57570415	missense	probably benign	0.01
R5002:Filip1l	UTSW	16	57571103	missense	probably benign	0.01
R5123:Filip1l	UTSW	16	57570662	missense	possibly damaging	0.76
R5294:Filip1l	UTSW	16	57570036	missense	possibly damaging	0.59
R5429:Filip1l	UTSW	16	57570255	missense	probably damaging	0.99
R5811:Filip1l	UTSW	16	57570294	missense	probably damaging	1.00
R6220:Filip1l	UTSW	16	57569989	missense	probably benign	0.31
R6452:Filip1l	UTSW	16	57506800	missense	possibly damaging	0.82
R6678:Filip1l	UTSW	16	57569970	missense	probably benign	0.00
R6700:Filip1l	UTSW	16	57571248	missense	possibly damaging	0.86
R7260:Filip1l	UTSW	16	57570924	missense	probably damaging	1.00
R7327:Filip1l	UTSW	16	57570937	missense	probably damaging	1.00
R7578:Filip1l	UTSW	16	57513282	missense	probably damaging	0.99
R7691:Filip1l	UTSW	16	57572433	missense	probably benign	0.00
R7950:Filip1l	UTSW	16	57569711	missense	probably damaging	1.00
R8288:Filip1l	UTSW	16	57570554	missense	probably damaging	1.00
R8334:Filip1l	UTSW	16	57570147	missense	probably benign	0.18
R8392:Filip1l	UTSW	16	57571353	missense	probably damaging	1.00
R8742:Filip1l	UTSW	16	57571230	missense	probably damaging	1.00
R9020:Filip1l	UTSW	16	57570695	missense	probably benign	0.00
R9157:Filip1l	UTSW	16	57571617	missense	probably benign	0.04
RF019:Filip1l	UTSW	16	57570641	missense	probably benign	0.07
Z1088:Filip1l	UTSW	16	57513405	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGATCAAGTTTGGGGCTGTG -3'
(R):5'- CTTCCCCTTAGATGGTGGTAGC -3'

Sequencing Primer
(F):5'- TGGGGCTGTGGTAAATATTACAAG -3'
(R):5'- AGTTCTCCCTCCAGAATGCTGAG -3'

Posted On

2014-06-23