Mutagenetix > Incidental Mutation

Incidental Mutation 'R1764:Filip1l'

193330

Institutional Source

Beutler Lab

Gene Symbol

Filip1l

Ensembl Gene

ENSMUSG00000043336

Gene Name

filamin A interacting protein 1-like

Synonyms

MMRRC Submission

039796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57353093-57573126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57570038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 330 (R330W)

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: R92W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: R92W

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: R330W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: R330W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232413

Meta Mutation Damage Score

0.5202

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

94% (94/100)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	T	5: 5,478,943	I24N	possibly damaging	Het
4930522L14Rik	A	G	5: 109,736,789	V401A	probably benign	Het
5830411N06Rik	A	G	7: 140,297,265	E831G	probably benign	Het
9930021J03Rik	T	A	19: 29,719,160	T978S	possibly damaging	Het
Abca7	G	T	10: 80,008,950	W1502L	probably damaging	Het
Adcy7	A	G	8: 88,308,840	E124G	probably benign	Het
Aif1l	G	A	2: 31,965,106	E66K	probably benign	Het
Aldh8a1	A	T	10: 21,395,493	M373L	probably benign	Het
Alg6	T	C	4: 99,741,578	Y131H	probably benign	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Arrdc4	A	T	7: 68,741,874	I215K	probably damaging	Het
Asb4	A	G	6: 5,390,798		probably null	Het
Astn1	T	C	1: 158,504,251	I305T	probably benign	Het
Atp5b	T	A	10: 128,084,080		probably benign	Het
Atp8a1	C	A	5: 67,631,567	M1044I	probably benign	Het
Atp9b	C	T	18: 80,909,591		probably null	Het
Btaf1	A	G	19: 36,951,118	H113R	probably benign	Het
C87436	G	T	6: 86,453,612	C338F	possibly damaging	Het
Casz1	T	C	4: 148,942,900		probably benign	Het
Cbr3	T	A	16: 93,690,482	H184Q	probably damaging	Het
Cct8l1	T	C	5: 25,517,099	S271P	possibly damaging	Het
Cdc34	A	G	10: 79,685,340	K77R	probably benign	Het
Cdc34	G	T	10: 79,685,338		probably null	Het
Cdh20	A	G	1: 104,934,345		probably benign	Het
Celsr3	A	G	9: 108,828,958	E880G	probably damaging	Het
Cers1	T	G	8: 70,321,491		probably null	Het
Cntn5	T	C	9: 9,673,983	I705V	probably benign	Het
Dennd4c	T	A	4: 86,803,010	D636E	probably damaging	Het
Dnah11	T	C	12: 118,190,825	E240G	probably benign	Het
Dnah2	T	C	11: 69,423,543	Y4100C	probably damaging	Het
Dpysl3	T	C	18: 43,363,518	E151G	probably damaging	Het
Efcab9	T	G	11: 32,524,457	T9P	possibly damaging	Het
Eif4g2	A	T	7: 111,074,487	F725Y	probably damaging	Het
Epha6	T	A	16: 59,775,728	I867F	probably null	Het
Erbin	T	C	13: 103,843,451		probably benign	Het
Evi5l	A	G	8: 4,203,560	E468G	probably damaging	Het
Fmo3	C	T	1: 162,958,573	V283M	possibly damaging	Het
Gabarapl1	A	T	6: 129,533,518	K24N	possibly damaging	Het
Gigyf1	C	T	5: 137,522,508		probably benign	Het
Gm13089	C	A	4: 143,698,270	C201F	probably benign	Het
Gm5581	T	A	6: 131,181,399		noncoding transcript	Het
Gon4l	G	T	3: 88,892,599	K850N	probably damaging	Het
Igf2bp3	C	T	6: 49,109,046	R233H	probably damaging	Het
Iqcf4	G	A	9: 106,568,694	R85C	probably benign	Het
Kalrn	C	T	16: 34,212,873	R473Q	probably damaging	Het
Lmod2	T	A	6: 24,603,377	V117E	probably damaging	Het
Mapk11	A	G	15: 89,144,391		probably null	Het
Mcm3	G	A	1: 20,805,879	R664C	probably damaging	Het
Mex3d	A	G	10: 80,386,936	M162T	probably benign	Het
Mrgprb3	A	G	7: 48,643,023	I260T	probably benign	Het
Ncor2	G	T	5: 125,028,615	A1637D	possibly damaging	Het
Nedd4	T	A	9: 72,730,907	D441E	probably damaging	Het
Nek5	A	T	8: 22,109,912	C194S	probably damaging	Het
Nos1ap	T	C	1: 170,318,878	D369G	possibly damaging	Het
Ntrk1	G	T	3: 87,780,084	T681K	probably damaging	Het
Olfr1306	A	G	2: 111,912,181	F250L	possibly damaging	Het
Olfr538	T	C	7: 140,574,470	W106R	probably damaging	Het
Otogl	C	T	10: 107,899,461	W154*	probably null	Het
Pcdh20	T	C	14: 88,469,184	T227A	possibly damaging	Het
Pcdhb17	T	C	18: 37,487,271	S705P	probably damaging	Het
Piezo2	T	C	18: 63,124,642	H335R	possibly damaging	Het
Pkn2	T	C	3: 142,793,854	Q954R	probably damaging	Het
Prkcq	G	A	2: 11,232,631	V74M	probably damaging	Het
Prkrip1	A	T	5: 136,189,635		probably null	Het
Rb1cc1	A	G	1: 6,214,680		probably benign	Het
Rbm5	A	T	9: 107,767,564	Y11*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Ryr3	C	A	2: 112,860,460	V1082L	probably damaging	Het
Sel1l3	C	A	5: 53,170,447	E497*	probably null	Het
Serpina6	A	T	12: 103,653,923	I189N	probably damaging	Het
Serpinb11	A	T	1: 107,376,802	T166S	probably benign	Het
Skint7	T	C	4: 111,982,073	L188S	probably benign	Het
Slc25a45	C	T	19: 5,884,930	A269V	probably damaging	Het
Sltm	A	G	9: 70,561,800	T114A	probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Spen	C	A	4: 141,472,950	V2766L	probably damaging	Het
Srgap2	T	A	1: 131,319,537	I445F	possibly damaging	Het
Stox2	A	T	8: 47,194,016	Y200*	probably null	Het
Strada	C	A	11: 106,164,184	R384L	probably damaging	Het
Tctn2	G	A	5: 124,619,031		noncoding transcript	Het
Tgfbr3l	G	T	8: 4,249,282	R461L	probably benign	Het
Tmem65	A	G	15: 58,790,149		probably benign	Het
Tpst1	G	T	5: 130,114,502	V294F	possibly damaging	Het
Trim23	A	G	13: 104,198,618	Y384C	probably damaging	Het
Ube3b	C	G	5: 114,404,617	L512V	possibly damaging	Het
Ubxn4	T	A	1: 128,256,179	V92E	probably damaging	Het
Vmn2r57	A	T	7: 41,400,643	C561S	probably damaging	Het
Vwa8	A	G	14: 78,908,195	D104G	probably damaging	Het
Wdr25	T	A	12: 109,026,438	L73*	probably null	Het
Wnt9a	G	A	11: 59,330,902	A209T	probably benign	Het
Zcchc17	A	C	4: 130,329,595	C133G	probably damaging	Het
Zdhhc18	T	A	4: 133,608,676	M375L	probably benign	Het
Zfhx3	T	C	8: 108,951,644	F3109L	probably benign	Het
Zfp202	T	A	9: 40,210,466	D286E	probably benign	Het
Zzef1	T	C	11: 72,893,332	L2021P	probably benign	Het

Other mutations in Filip1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Filip1l	APN	16	57,572,348 (GRCm38)	nonsense	probably null
IGL01393:Filip1l	APN	16	57,572,223 (GRCm38)	missense	probably damaging	1.00
IGL01886:Filip1l	APN	16	57,571,250 (GRCm38)	missense	possibly damaging	0.47
IGL02336:Filip1l	APN	16	57,571,733 (GRCm38)	splice site	probably null
IGL02503:Filip1l	APN	16	57,571,575 (GRCm38)	missense	probably benign	0.00
IGL02608:Filip1l	APN	16	57,572,106 (GRCm38)	missense	probably benign	0.05
IGL02681:Filip1l	APN	16	57,571,779 (GRCm38)	missense	probably benign	0.10
IGL02687:Filip1l	APN	16	57,571,127 (GRCm38)	missense	probably benign	0.30
IGL02982:Filip1l	APN	16	57,572,232 (GRCm38)	missense	probably damaging	1.00
IGL03062:Filip1l	APN	16	57,506,804 (GRCm38)	missense	probably damaging	1.00
R1027:Filip1l	UTSW	16	57,569,688 (GRCm38)	missense	probably benign
R1347:Filip1l	UTSW	16	57,570,987 (GRCm38)	missense	probably damaging	1.00
R1347:Filip1l	UTSW	16	57,570,987 (GRCm38)	missense	probably damaging	1.00
R1384:Filip1l	UTSW	16	57,571,289 (GRCm38)	missense	possibly damaging	0.61
R1655:Filip1l	UTSW	16	57,571,851 (GRCm38)	missense	probably damaging	1.00
R1809:Filip1l	UTSW	16	57,506,660 (GRCm38)	missense	probably benign
R1983:Filip1l	UTSW	16	57,571,274 (GRCm38)	missense	probably damaging	0.98
R2504:Filip1l	UTSW	16	57,571,047 (GRCm38)	missense	probably damaging	0.97
R2504:Filip1l	UTSW	16	57,570,662 (GRCm38)	missense	possibly damaging	0.76
R3117:Filip1l	UTSW	16	57,506,732 (GRCm38)	missense	probably benign	0.07
R3844:Filip1l	UTSW	16	57,572,427 (GRCm38)	missense	probably benign	0.15
R3871:Filip1l	UTSW	16	57,513,286 (GRCm38)	missense	probably damaging	0.97
R4231:Filip1l	UTSW	16	57,506,768 (GRCm38)	missense	probably benign
R4391:Filip1l	UTSW	16	57,570,792 (GRCm38)	nonsense	probably null
R4700:Filip1l	UTSW	16	57,570,695 (GRCm38)	missense	probably benign	0.00
R4999:Filip1l	UTSW	16	57,570,415 (GRCm38)	missense	probably benign	0.01
R5002:Filip1l	UTSW	16	57,571,103 (GRCm38)	missense	probably benign	0.01
R5123:Filip1l	UTSW	16	57,570,662 (GRCm38)	missense	possibly damaging	0.76
R5294:Filip1l	UTSW	16	57,570,036 (GRCm38)	missense	possibly damaging	0.59
R5429:Filip1l	UTSW	16	57,570,255 (GRCm38)	missense	probably damaging	0.99
R5811:Filip1l	UTSW	16	57,570,294 (GRCm38)	missense	probably damaging	1.00
R6220:Filip1l	UTSW	16	57,569,989 (GRCm38)	missense	probably benign	0.31
R6452:Filip1l	UTSW	16	57,506,800 (GRCm38)	missense	possibly damaging	0.82
R6678:Filip1l	UTSW	16	57,569,970 (GRCm38)	missense	probably benign	0.00
R6700:Filip1l	UTSW	16	57,571,248 (GRCm38)	missense	possibly damaging	0.86
R7260:Filip1l	UTSW	16	57,570,924 (GRCm38)	missense	probably damaging	1.00
R7327:Filip1l	UTSW	16	57,570,937 (GRCm38)	missense	probably damaging	1.00
R7578:Filip1l	UTSW	16	57,513,282 (GRCm38)	missense	probably damaging	0.99
R7691:Filip1l	UTSW	16	57,572,433 (GRCm38)	missense	probably benign	0.00
R7950:Filip1l	UTSW	16	57,569,711 (GRCm38)	missense	probably damaging	1.00
R8288:Filip1l	UTSW	16	57,570,554 (GRCm38)	missense	probably damaging	1.00
R8334:Filip1l	UTSW	16	57,570,147 (GRCm38)	missense	probably benign	0.18
R8392:Filip1l	UTSW	16	57,571,353 (GRCm38)	missense	probably damaging	1.00
R8742:Filip1l	UTSW	16	57,571,230 (GRCm38)	missense	probably damaging	1.00
R9020:Filip1l	UTSW	16	57,570,695 (GRCm38)	missense	probably benign	0.00
R9157:Filip1l	UTSW	16	57,571,617 (GRCm38)	missense	probably benign	0.04
RF019:Filip1l	UTSW	16	57,570,641 (GRCm38)	missense	probably benign	0.07
Z1088:Filip1l	UTSW	16	57,513,405 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCTGACCACAAGTGCAAAGG -3'
(R):5'- GCCGACTTTCAATGGCTTCTAGCTC -3'

Sequencing Primer
(F):5'- GGGTAAACTAGCCCTTGCTGAG -3'
(R):5'- CAGACAATTGCTTTGTGGTCATC -3'

Posted On

2014-05-23