Mutagenetix > Incidental Mutation

Incidental Mutation 'R2504:Filip1l'

252265

Institutional Source

Beutler Lab

Gene Symbol

Filip1l

Ensembl Gene

ENSMUSG00000043336

Gene Name

filamin A interacting protein 1-like

Synonyms

MMRRC Submission

040412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2504 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57353093-57573126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57571047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 428 (D428V)

Ref Sequence

ENSEMBL: ENSMUSP00000124069 (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: D428V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: D428V

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

possibly damaging
Transcript: ENSMUST00000159816
AA Change: D666V

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: D666V

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 120,018,855 (GRCm38)	D28G	probably benign	Het
Abcg1	T	A	17: 31,092,395 (GRCm38)	S125T	probably damaging	Het
Actbl2	T	C	13: 111,256,183 (GRCm38)	S351P	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,061 (GRCm38)		probably null	Het
BC051665	C	T	13: 60,782,654 (GRCm38)	V295I	probably benign	Het
C1qtnf2	A	G	11: 43,491,156 (GRCm38)	N265S	probably damaging	Het
Ccdc14	C	T	16: 34,721,850 (GRCm38)	R573*	probably null	Het
Cd55b	A	T	1: 130,409,875 (GRCm38)	Y247N	probably damaging	Het
Celsr2	A	T	3: 108,413,591 (GRCm38)	V635E	probably benign	Het
Clec16a	T	C	16: 10,559,687 (GRCm38)		probably benign	Het
Clec4b1	A	G	6: 123,065,945 (GRCm38)	Y41C	probably damaging	Het
Cntn5	A	T	9: 10,172,121 (GRCm38)	D19E	probably benign	Het
Cop1	A	G	1: 159,232,805 (GRCm38)	N53S	probably damaging	Het
Cplane1	G	A	15: 8,219,216 (GRCm38)	E1750K	probably damaging	Het
Csad	A	T	15: 102,188,667 (GRCm38)	M1K	probably null	Het
Cyb5rl	A	G	4: 107,080,945 (GRCm38)	I200V	probably benign	Het
Cyp26a1	A	G	19: 37,698,342 (GRCm38)	T81A	probably damaging	Het
Cyp2d12	A	T	15: 82,559,036 (GRCm38)	H433L	probably benign	Het
D7Ertd443e	T	A	7: 134,349,479 (GRCm38)		probably null	Het
Dennd1b	A	G	1: 139,170,170 (GRCm38)		probably benign	Het
Dmap1	G	T	4: 117,675,298 (GRCm38)	T357K	probably damaging	Het
Dzip1	G	T	14: 118,881,044 (GRCm38)	T759K	probably benign	Het
Elmo2	A	G	2: 165,298,687 (GRCm38)	V300A	probably damaging	Het
Eml5	T	C	12: 98,844,105 (GRCm38)	D864G	possibly damaging	Het
Ep400	A	G	5: 110,668,645 (GRCm38)	V2670A	probably damaging	Het
Epha3	T	A	16: 63,603,625 (GRCm38)	I534F	probably damaging	Het
Epha4	A	C	1: 77,382,991 (GRCm38)	Y742D	probably damaging	Het
Ergic2	A	G	6: 148,204,774 (GRCm38)		probably null	Het
Ero1a	A	T	14: 45,299,088 (GRCm38)		probably null	Het
Fam229a	A	G	4: 129,491,486 (GRCm38)	D70G	probably damaging	Het
Fbn2	C	T	18: 58,093,359 (GRCm38)	R781Q	probably damaging	Het
Fbxo16	A	T	14: 65,270,714 (GRCm38)		probably benign	Het
Fbxo39	T	A	11: 72,317,285 (GRCm38)	S154R	probably benign	Het
Fer	T	A	17: 63,991,580 (GRCm38)		probably null	Het
Fsip2	T	C	2: 82,979,610 (GRCm38)	I2091T	possibly damaging	Het
Glyat	A	C	19: 12,651,398 (GRCm38)	T186P	possibly damaging	Het
Gm10604	A	G	4: 11,980,083 (GRCm38)	S74P	unknown	Het
Gm4787	T	G	12: 81,379,137 (GRCm38)	K82N	possibly damaging	Het
Hectd4	T	C	5: 121,220,620 (GRCm38)	I50T	unknown	Het
Hectd4	T	C	5: 121,263,967 (GRCm38)	S373P	possibly damaging	Het
Hmcn1	A	T	1: 150,686,867 (GRCm38)	C2313*	probably null	Het
Hrob	T	C	11: 102,255,296 (GRCm38)	Y133H	possibly damaging	Het
Igfn1	A	T	1: 135,969,316 (GRCm38)	S1171T	probably benign	Het
Ints8	T	C	4: 11,241,642 (GRCm38)	D267G	probably benign	Het
Itln1	A	G	1: 171,529,159 (GRCm38)	C251R	probably damaging	Het
Jcad	C	T	18: 4,674,026 (GRCm38)	T596M	probably damaging	Het
Kcnj16	C	T	11: 111,025,583 (GRCm38)	T357M	probably benign	Het
Kif13a	G	A	13: 46,814,200 (GRCm38)	T346M	probably damaging	Het
Klhl24	G	A	16: 20,120,167 (GRCm38)	A491T	probably benign	Het
Kntc1	C	T	5: 123,778,347 (GRCm38)	Q748*	probably null	Het
Krt25	T	A	11: 99,317,296 (GRCm38)	K369*	probably null	Het
Krt75	C	T	15: 101,568,031 (GRCm38)	R433Q	probably benign	Het
Krt76	A	G	15: 101,884,858 (GRCm38)	F582L	unknown	Het
Lysmd1	G	A	3: 95,138,397 (GRCm38)	V182I	probably benign	Het
Mab21l2	T	A	3: 86,547,555 (GRCm38)	E46V	probably damaging	Het
Magi2	A	T	5: 20,358,936 (GRCm38)	K355N	probably damaging	Het
Marchf10	T	C	11: 105,385,572 (GRCm38)	D630G	probably damaging	Het
Mast4	A	T	13: 102,738,639 (GRCm38)	I1215N	probably damaging	Het
Nckap1	G	A	2: 80,530,218 (GRCm38)	T523I	probably benign	Het
Nexmif	T	A	X: 104,084,393 (GRCm38)	D1306V	probably damaging	Het
Nfkb1	A	C	3: 135,589,329 (GRCm38)	I918R	possibly damaging	Het
Nt5el	A	G	13: 105,109,742 (GRCm38)	I270M	probably benign	Het
Nup50	A	T	15: 84,933,658 (GRCm38)	T93S	probably benign	Het
Nwd2	T	C	5: 63,804,374 (GRCm38)	Y434H	probably benign	Het
Or13a28	T	C	7: 140,638,484 (GRCm38)	V261A	probably benign	Het
Osbpl1a	C	A	18: 12,905,031 (GRCm38)	V288L	probably benign	Het
Pan3	A	G	5: 147,527,036 (GRCm38)	E562G	possibly damaging	Het
Pappa	T	A	4: 65,180,889 (GRCm38)	Y548*	probably null	Het
Phf3	A	T	1: 30,810,789 (GRCm38)	L1181Q	probably damaging	Het
Phip	T	C	9: 82,915,339 (GRCm38)	H537R	possibly damaging	Het
Pkhd1l1	T	C	15: 44,485,428 (GRCm38)	I240T	probably damaging	Het
Pole	G	A	5: 110,290,502 (GRCm38)		probably null	Het
Polq	T	A	16: 37,011,942 (GRCm38)	S15T	unknown	Het
Prrt2	T	C	7: 127,020,224 (GRCm38)	E23G	possibly damaging	Het
Prss37	A	T	6: 40,517,826 (GRCm38)		probably null	Het
Prune2	T	C	19: 17,000,036 (GRCm38)	L45P	probably damaging	Het
Psd	A	T	19: 46,324,913 (GRCm38)	M6K	possibly damaging	Het
Psmd1	A	G	1: 86,089,997 (GRCm38)	E510G	possibly damaging	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Pxdn	T	A	12: 30,003,406 (GRCm38)	I1194N	probably damaging	Het
Rbp3	C	T	14: 33,956,018 (GRCm38)	T641M	probably damaging	Het
Rgmb	C	A	17: 15,807,647 (GRCm38)	R270L	probably benign	Het
Rpgrip1l	A	G	8: 91,280,716 (GRCm38)		probably null	Het
Rps2	G	A	17: 24,720,379 (GRCm38)		probably benign	Het
Rsbn1l	G	T	5: 20,902,366 (GRCm38)	A550E	probably damaging	Het
S1pr4	C	T	10: 81,499,304 (GRCm38)	R112H	probably benign	Het
Scfd2	T	C	5: 74,531,177 (GRCm38)	N148S	probably damaging	Het
Scin	C	T	12: 40,081,706 (GRCm38)	M276I	probably benign	Het
Sec24d	T	C	3: 123,353,606 (GRCm38)	I708T	possibly damaging	Het
Skint11	T	A	4: 114,228,812 (GRCm38)	F41I	possibly damaging	Het
Slc15a4	A	T	5: 127,617,239 (GRCm38)	F44Y	possibly damaging	Het
Slc6a18	A	G	13: 73,675,806 (GRCm38)	Y72H	probably benign	Het
Slc7a11	A	T	3: 50,377,746 (GRCm38)		probably null	Het
Slc7a14	G	T	3: 31,237,501 (GRCm38)	N209K	possibly damaging	Het
Sstr2	T	C	11: 113,624,431 (GRCm38)	C59R	probably damaging	Het
Stab1	A	G	14: 31,163,040 (GRCm38)		probably null	Het
Stag1	G	T	9: 100,866,210 (GRCm38)	S475I	probably damaging	Het
Stxbp5l	A	G	16: 37,115,667 (GRCm38)	Y1183H	probably damaging	Het
Svep1	A	T	4: 58,135,628 (GRCm38)		probably null	Het
Tm9sf2	A	G	14: 122,158,684 (GRCm38)	T653A	probably benign	Het
Tmeff1	T	C	4: 48,662,059 (GRCm38)	S366P	possibly damaging	Het
Tnnt2	G	T	1: 135,852,065 (GRCm38)	W300L	probably damaging	Het
Traj32	A	G	14: 54,186,103 (GRCm38)		probably benign	Het
Trp53bp2	A	T	1: 182,441,639 (GRCm38)	M223L	probably benign	Het
Tsga10	G	A	1: 37,815,677 (GRCm38)	T246M	probably damaging	Het
Txn2	A	T	15: 77,926,670 (GRCm38)		probably benign	Het
Ubr3	T	A	2: 69,938,198 (GRCm38)	F450I	probably damaging	Het
Usp47	T	C	7: 112,104,470 (GRCm38)		probably null	Het
Vars2	C	T	17: 35,664,793 (GRCm38)	R244Q	probably damaging	Het
Xrra1	T	A	7: 99,897,596 (GRCm38)	F251L	probably damaging	Het
Zfp804a	G	A	2: 82,257,519 (GRCm38)	R564Q	probably benign	Het
Zfp983	T	C	17: 21,658,967 (GRCm38)	C29R	probably damaging	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
R1764:Filip1l	UTSW	16	57,570,038 (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	57,570,662 (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'- GACTCCAGTAAGTCCACAGCAG -3'
(R):5'- TTGCAGAAGGGAGTGGTCTC -3'

Sequencing Primer
(F):5'- AGTAAGTCCACAGCAGCATTAC -3'
(R):5'- ACATATTAGGTCCTCTGTGGCCATG -3'

Posted On

2014-12-04