Mutagenetix > Incidental Mutation

Incidental Mutation 'R7327:Filip1l'

569020

Institutional Source

Beutler Lab

Gene Symbol

Filip1l

Ensembl Gene

ENSMUSG00000043336

Gene Name

filamin A interacting protein 1-like

Synonyms

MMRRC Submission

045420-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57353093-57573126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 57570937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 629 (E629D)

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: E391D

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

SMART Domains

Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: E391D

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: E629D

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

SMART Domains

Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: E629D

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,548,680	T3I	probably benign	Het
Ahi1	T	A	10: 20,987,077	V717E	probably damaging	Het
Anapc4	A	G	5: 52,845,330	T238A	probably damaging	Het
Arhgap27	A	T	11: 103,360,541	C120*	probably null	Het
Bdp1	A	T	13: 100,041,532	V1943D	probably damaging	Het
Cdc14b	A	G	13: 64,225,647	V141A	probably damaging	Het
Cfap46	G	T	7: 139,635,146		probably null	Het
Cgnl1	C	A	9: 71,725,883	R62L	possibly damaging	Het
Chaf1a	A	G	17: 56,062,573	S522G	probably benign	Het
Cox19	A	G	5: 139,342,647	F37S	probably damaging	Het
Csmd1	G	A	8: 16,058,707	S1894L	probably damaging	Het
Cyp4a12a	A	T	4: 115,327,559	R346W	probably damaging	Het
Dip2a	A	C	10: 76,272,562	C1315G	probably benign	Het
Dmxl2	A	C	9: 54,401,585	W1961G	probably damaging	Het
Dst	T	C	1: 34,201,405	L1945P	probably damaging	Het
Efr3a	A	G	15: 65,819,778	S92G	probably damaging	Het
Ep300	C	T	15: 81,627,314	T865I	unknown	Het
Ercc6	A	G	14: 32,526,404	E304G	probably benign	Het
Frem1	G	A	4: 83,020,755	T30I	possibly damaging	Het
Glb1	T	C	9: 114,417,058	F59S	probably benign	Het
Gli3	T	C	13: 15,725,559	L1177P	probably benign	Het
Gm16486	T	A	8: 70,716,804	M1181K	possibly damaging	Het
Gpatch2l	A	G	12: 86,256,872	T223A	probably damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Hmcn1	A	T	1: 150,603,814	M4633K	probably benign	Het
Hoxc8	T	A	15: 102,991,110	Y111N	probably damaging	Het
Ifi207	A	G	1: 173,729,015	L726P	probably benign	Het
Iqgap2	T	A	13: 95,635,655	M1339L	probably benign	Het
Kif21b	A	G	1: 136,159,649	Q901R	possibly damaging	Het
Krtap4-8	C	A	11: 99,780,408	C79F	unknown	Het
Ldb3	T	C	14: 34,571,802	N155S	probably damaging	Het
Mad2l1	T	A	6: 66,539,810	V162E	probably benign	Het
Map7	T	A	10: 20,233,462	V87E	unknown	Het
Mndal	A	T	1: 173,875,619	D73E	unknown	Het
Msantd1	T	C	5: 34,917,695	S34P	probably damaging	Het
Myh14	T	C	7: 44,611,553	Q1838R	possibly damaging	Het
Myh15	G	T	16: 49,173,006	R1668L	possibly damaging	Het
Ncoa7	A	G	10: 30,689,800	M666T	probably damaging	Het
Nol6	A	T	4: 41,116,686	L944Q	probably benign	Het
Olfr197	A	T	16: 59,186,013	F157I	unknown	Het
Orc1	A	G	4: 108,588,714	T10A	probably benign	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pglyrp2	C	T	17: 32,415,919	A490T	probably benign	Het
Pirb	A	T	7: 3,717,188	C395*	probably null	Het
Ppp1r11	T	C	17: 36,951,008	R12G	possibly damaging	Het
Prlr	A	G	15: 10,346,438	D290G	probably benign	Het
Ptpn21	G	T	12: 98,680,101	R1033S	probably damaging	Het
Rad54l2	A	G	9: 106,693,461	L1220P	possibly damaging	Het
Rufy3	G	A	5: 88,642,952	R504H	probably damaging	Het
Scgb2b21	C	T	7: 33,519,905	V25I	probably benign	Het
Sh3bgrl2	T	C	9: 83,548,489	S11P	possibly damaging	Het
Slain2	A	T	5: 72,974,659	T498S	probably benign	Het
Slc12a4	C	T	8: 105,955,715	G121S	probably damaging	Het
Slc30a9	A	T	5: 67,342,119	I307F	probably damaging	Het
Snap91	C	T	9: 86,773,545	G800R	unknown	Het
Tnc	G	T	4: 63,964,762		probably null	Het
Trav21-dv12	T	C	14: 53,876,057		probably benign	Het
Txk	A	T	5: 72,715,883	I228N	probably damaging	Het
Vac14	T	C	8: 110,711,620	Y622H	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr35	T	G	12: 8,987,312	M306R	probably benign	Het
Zan	A	T	5: 137,465,232	S562T	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
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'- TCAAGTCCAAAACTGATGCAGAAG -3'
(R):5'- ACTTGGCAAGCTCCATCTTG -3'

Sequencing Primer
(F):5'- TGTAACCAAGGAGAGAGATGACCTC -3'
(R):5'- GCAAGCTCCATCTTGGCATG -3'

Posted On

2019-09-13