Mutagenetix > Incidental Mutation

Incidental Mutation 'R8392:Filip1l'

647449

Institutional Source

Beutler Lab

Gene Symbol

Filip1l

Ensembl Gene

ENSMUSG00000043336

Gene Name

filamin A interacting protein 1-like

Synonyms

MMRRC Submission

067757-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57353093-57573126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57571353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 768 (E768G)

Ref Sequence

ENSEMBL: ENSMUSP00000124179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114371] [ENSMUST00000159414] [ENSMUST00000159816] [ENSMUST00000232413]

AlphaFold

no structure available at present

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 damaging
Transcript: ENSMUST00000159414
AA Change: E530G

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

SMART Domains

Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: E530G

Domain	Start	End	E-Value	Type
coiled coil region	4	345	N/A	INTRINSIC
coiled coil region	371	542	N/A	INTRINSIC
low complexity region	589	602	N/A	INTRINSIC
low complexity region	868	879	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159816
AA Change: E768G

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

SMART Domains

Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: E768G

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

probably benign
Transcript: ENSMUST00000232413

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,646,550	A473T	probably benign	Het
Ano2	T	A	6: 125,880,735	N512K	probably benign	Het
Arhgap18	A	T	10: 26,845,940	Y41F	probably benign	Het
Baz1a	T	A	12: 54,923,123	D584V	probably damaging	Het
Ccl2	A	T	11: 82,036,982	Q84L	probably damaging	Het
Cdv3	T	A	9: 103,355,275	H245L	probably benign	Het
Cfap54	T	G	10: 92,962,417	K1660T	unknown	Het
Col4a1	T	A	8: 11,208,333		probably null	Het
Cpeb3	TTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG	19: 37,174,891		probably benign	Het
Crebbp	G	A	16: 4,084,281	R2365W	possibly damaging	Het
Ctsc	A	T	7: 88,297,243	Q160L	probably benign	Het
Cyp4a10	C	T	4: 115,529,478	R441*	probably null	Het
Cyp8b1	T	C	9: 121,915,234	E344G	probably damaging	Het
Dnah12	T	C	14: 26,885,912	F3801L	probably benign	Het
Dnhd1	A	G	7: 105,703,343	R2568G	possibly damaging	Het
Erbin	T	A	13: 103,834,062	E1015D	probably damaging	Het
Hist1h2ai	C	T	13: 21,716,486	A22V	unknown	Het
Ildr1	G	A	16: 36,722,358	W417*	probably null	Het
Ildr1	G	T	16: 36,722,359	D418Y	probably damaging	Het
Ispd	T	A	12: 36,390,498	L135Q	probably damaging	Het
Kdsr	A	T	1: 106,743,853	M142K	probably damaging	Het
Kidins220	T	A	12: 24,990,728	V111E	probably damaging	Het
Ly75	T	C	2: 60,349,940	E631G	probably benign	Het
Muc13	G	A	16: 33,799,419	G179D	unknown	Het
Nebl	T	A	2: 17,452,552	T66S	probably benign	Het
Npsr1	T	A	9: 24,310,081	I277N	possibly damaging	Het
Olfr352	T	G	2: 36,870,340	I258S	probably damaging	Het
Olfr806	T	A	10: 129,738,041	N292I	probably damaging	Het
Pcdha11	T	A	18: 37,006,159	Y280*	probably null	Het
Pitrm1	T	C	13: 6,549,660	I46T	probably benign	Het
Plxnc1	A	G	10: 94,801,490	V1308A	possibly damaging	Het
Ppp1r9a	T	C	6: 5,143,491		probably null	Het
Ptgdr	A	G	14: 44,858,922	M111T	probably damaging	Het
Rab3gap1	A	G	1: 127,938,633	K850R	probably benign	Het
Rsf1	G	GACGGCGGCC	7: 97,579,909		probably benign	Het
Smtnl2	T	A	11: 72,403,167	M188L	probably benign	Het
Snip1	G	A	4: 125,066,825	V25M	probably damaging	Het
Spock3	A	C	8: 63,355,311	D411A	unknown	Het
Sptbn4	C	T	7: 27,372,296	R1581H	probably damaging	Het
Stard13	A	G	5: 151,042,162	S1080P	probably benign	Het
Svep1	A	T	4: 58,070,566	C2407S	possibly damaging	Het
Tanc1	T	C	2: 59,806,307	S845P	probably damaging	Het
Tnfsf13	T	C	11: 69,683,862	Y202C	probably damaging	Het
Top1	T	A	2: 160,717,454	C632*	probably null	Het
Tsr1	C	A	11: 74,900,270	T225K	probably benign	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
R1809:Filip1l	UTSW	16	57506660	missense	probably benign
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
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'- TCTTTAGGAGGCTCCAGGAAG -3'
(R):5'- TTAGGGTCGTCATCCTGGTC -3'

Sequencing Primer
(F):5'- CTTTAGGAGGCTCCAGGAAGAAGAAG -3'
(R):5'- CTCCTCATAGAACTGACCATTGATC -3'

Posted On

2020-09-02