Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02982:Filip1l'

406578

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Filip1l

Ensembl Gene

ENSMUSG00000043336

Gene Name

filamin A interacting protein 1-like

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

57353093-57573126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57572232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1061 (H1061R)

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: H823R

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

SMART Domains

Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: H823R

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: H1061R

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

SMART Domains

Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: H1061R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	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
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
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

Posted On

2016-08-02