Mutagenetix > Incidental Mutations

Incidental Mutation 'R8334:Filip1l'

644548

Institutional Source

Beutler Lab

Gene Symbol

Filip1l

Ensembl Gene

ENSMUSG00000043336

Gene Name

filamin A interacting protein 1-like

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57353093-57573126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57570147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 366 (I366T)

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 benign
Transcript: ENSMUST00000159414
AA Change: I128T

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: I128T

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 benign
Transcript: ENSMUST00000159816
AA Change: I366T

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: I366T

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	G	9: 22,444,118	E483G	probably benign	Het
Abca8a	A	T	11: 110,068,824	S696T	probably damaging	Het
Abhd12	T	C	2: 150,858,453	I75V	probably benign	Het
Adamts9	T	C	6: 92,937,244		probably null	Het
Ap2a1	C	T	7: 44,904,711	V499I	possibly damaging	Het
Arhgef16	T	A	4: 154,282,767	K394*	probably null	Het
Armc2	A	G	10: 41,923,765	F699S	probably damaging	Het
Atat1	C	T	17: 35,909,258		probably null	Het
Atm	A	G	9: 53,522,273	S226P	probably benign	Het
Bcas3	A	G	11: 85,576,811	T687A	possibly damaging	Het
Bmp2k	T	C	5: 97,027,894	M78T	possibly damaging	Het
Brinp3	T	A	1: 146,902,053	L746H	probably damaging	Het
Capn8	G	A	1: 182,611,105		probably null	Het
Ccdc154	T	A	17: 25,171,607	F602I	probably damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,841,272		probably null	Het
Chd3	A	G	11: 69,350,796	F1504L	probably damaging	Het
Cpsf1	A	T	15: 76,603,587	N77K	probably benign	Het
Crybb3	T	A	5: 113,075,979	Q188L	possibly damaging	Het
Dnah8	T	A	17: 30,769,831	H3258Q	probably benign	Het
Dnajb6	C	T	5: 29,781,240	R269W	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Ech1	A	G	7: 28,831,823	I279V	probably benign	Het
Ehbp1	C	A	11: 22,007,170	R1173L	probably damaging	Het
Ehd4	T	C	2: 120,137,064	E83G	probably damaging	Het
Epha7	A	G	4: 28,938,777	E544G	probably benign	Het
Esp23	A	G	17: 39,073,904	V67A	possibly damaging	Het
Etl4	T	C	2: 20,781,046	V726A	probably damaging	Het
Fbxo39	G	A	11: 72,317,644	W274*	probably null	Het
Gm4841	T	C	18: 60,270,982	D13G	probably benign	Het
Gm6205	T	G	5: 94,682,776	N44K	probably benign	Het
Gtpbp2	T	A	17: 46,166,442	F411Y	possibly damaging	Het
Kmt5b	G	T	19: 3,814,795	V620L	probably benign	Het
Lrrc24	T	C	15: 76,716,000	Q313R	probably benign	Het
Lsm1	A	G	8: 25,802,019	E108G	probably benign	Het
Macf1	T	C	4: 123,432,108	K5201E	possibly damaging	Het
Mki67	G	T	7: 135,696,516	T2263K	probably damaging	Het
Mroh1	G	A	15: 76,446,556	G1156S	probably benign	Het
Ncor1	A	T	11: 62,383,244	M190K	probably damaging	Het
Nsmce3	A	G	7: 64,872,719	V67A	probably damaging	Het
Nuggc	T	C	14: 65,645,029	V741A	probably benign	Het
Olfm3	G	T	3: 115,122,557	L379F	probably damaging	Het
Olfr1274-ps	T	C	2: 90,400,933	S91P	probably benign	Het
Olfr935	T	A	9: 38,994,593	I281F	probably benign	Het
Pcdhb13	A	G	18: 37,444,800	T744A	probably damaging	Het
Plek	T	C	11: 16,983,220	T298A	probably benign	Het
Pou5f2	A	G	13: 78,025,273	I111M	probably benign	Het
Pou6f2	C	T	13: 18,125,406	R556H	probably damaging	Het
Rcor1	G	A	12: 111,093,095	A148T		Het
Rnh1	A	G	7: 141,168,631	V11A	probably benign	Het
Rrnad1	C	T	3: 87,927,749	V31I	possibly damaging	Het
Slc35f1	T	C	10: 53,108,148	F335L	possibly damaging	Het
Srrm2	T	C	17: 23,808,356	V22A	unknown	Het
St7	A	T	6: 17,934,221	H534L	probably damaging	Het
Swi5	T	A	2: 32,280,451		probably benign	Het
Syf2	T	A	4: 134,931,275	H40Q	probably benign	Het
Tgtp2	G	A	11: 49,058,894	L284F	probably benign	Het
Tnn	C	T	1: 160,118,483	G922R	probably damaging	Het
Trbc1	A	C	6: 41,539,112		probably benign	Het
Trim33	A	T	3: 103,353,829	T1115S	probably benign	Het
Ttc22	C	A	4: 106,638,918		probably null	Het
Ttn	C	T	2: 76,808,030	A13969T	probably damaging	Het
Tuba4a	T	C	1: 75,217,301	D74G	probably benign	Het
Ube3c	T	A	5: 29,590,884	D90E	probably benign	Het
Ubr7	T	C	12: 102,758,138	V37A	probably damaging	Het
Vmn2r28	A	C	7: 5,484,060	C535G	probably damaging	Het
Wdr36	A	G	18: 32,859,293	T628A	possibly damaging	Het
Whrn	C	T	4: 63,494,810	V142M	probably damaging	Het
Wnk2	A	T	13: 49,050,482		probably null	Het
Xkr7	C	T	2: 153,054,963	T579I	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
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
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'- TCTGACCACAAGTGCAAAGG -3'
(R):5'- CCAGAGCTGTGATCCTTACAC -3'

Sequencing Primer
(F):5'- TTGCTGAGGCCAGAGCTCAG -3'
(R):5'- GAGCTGTGATCCTTACACTAAGTTTG -3'

Posted On

2020-09-02