Mutagenetix > Incidental Mutation

Incidental Mutation 'R3117:Filip1l'

263108

Institutional Source

Beutler Lab

Gene Symbol

Filip1l

Ensembl Gene

ENSMUSG00000043336

Gene Name

filamin A interacting protein 1-like

Synonyms

4631422O05Rik

MMRRC Submission

040590-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57173640-57393167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57327095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 42 (S42P)

Ref Sequence

ENSEMBL: ENSMUSP00000124179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099667] [ENSMUST00000114371] [ENSMUST00000159816]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099667
AA Change: S42P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133252
Gene: ENSMUSG00000043336
AA Change: S42P

Domain	Start	End	E-Value	Type
Pfam:CortBP2	55	201	2.6e-67	PFAM

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: ENSMUST00000159816
AA Change: S42P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: S42P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AW551984	T	C	9: 39,504,656 (GRCm39)	T532A	probably benign	Het
Dglucy	A	G	12: 100,804,937 (GRCm39)	S143G	probably benign	Het
Dlec1	G	A	9: 118,972,971 (GRCm39)		probably null	Het
Fcho2	A	C	13: 98,913,946 (GRCm39)	I217S	probably damaging	Het
Fras1	G	A	5: 96,919,571 (GRCm39)	A3595T	probably damaging	Het
Hacd3	G	T	9: 64,905,591 (GRCm39)	D182E	probably damaging	Het
Hsfy2	C	G	1: 56,676,265 (GRCm39)	D91H	probably damaging	Het
Man1a	T	A	10: 53,906,890 (GRCm39)	M295L	probably damaging	Het
Mkrn3	CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA	CGGCATTGGCACTGGCATTGGCA	7: 62,068,962 (GRCm39)		probably benign	Het
Mlc1	T	C	15: 88,860,731 (GRCm39)	D93G	probably damaging	Het
Myo5c	G	A	9: 75,173,476 (GRCm39)		probably null	Het
Nlrc4	T	C	17: 74,743,063 (GRCm39)	I852V	probably benign	Het
Notch3	C	T	17: 32,377,089 (GRCm39)	C272Y	probably damaging	Het
Or7g35	A	T	9: 19,496,237 (GRCm39)	I135F	probably damaging	Het
Ovgp1	T	C	3: 105,893,768 (GRCm39)		probably benign	Het
Pbld2	A	G	10: 62,890,215 (GRCm39)	T208A	probably benign	Het
Prpf39	T	C	12: 65,104,651 (GRCm39)	V572A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ttc3	G	A	16: 94,243,422 (GRCm39)	R1142Q	possibly damaging	Het
Ttc41	T	C	10: 86,560,184 (GRCm39)	M369T	possibly damaging	Het
Vwa3b	G	A	1: 37,148,158 (GRCm39)	V437I	possibly damaging	Het

Other mutations in Filip1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Filip1l	APN	16	57,392,711 (GRCm39)	nonsense	probably null
IGL01393:Filip1l	APN	16	57,392,586 (GRCm39)	missense	probably damaging	1.00
IGL01886:Filip1l	APN	16	57,391,613 (GRCm39)	missense	possibly damaging	0.47
IGL02336:Filip1l	APN	16	57,392,096 (GRCm39)	splice site	probably null
IGL02503:Filip1l	APN	16	57,391,938 (GRCm39)	missense	probably benign	0.00
IGL02608:Filip1l	APN	16	57,392,469 (GRCm39)	missense	probably benign	0.05
IGL02681:Filip1l	APN	16	57,392,142 (GRCm39)	missense	probably benign	0.10
IGL02687:Filip1l	APN	16	57,391,490 (GRCm39)	missense	probably benign	0.30
IGL02982:Filip1l	APN	16	57,392,595 (GRCm39)	missense	probably damaging	1.00
IGL03062:Filip1l	APN	16	57,327,167 (GRCm39)	missense	probably damaging	1.00
R1027:Filip1l	UTSW	16	57,390,051 (GRCm39)	missense	probably benign
R1347:Filip1l	UTSW	16	57,391,350 (GRCm39)	missense	probably damaging	1.00
R1347:Filip1l	UTSW	16	57,391,350 (GRCm39)	missense	probably damaging	1.00
R1384:Filip1l	UTSW	16	57,391,652 (GRCm39)	missense	possibly damaging	0.61
R1655:Filip1l	UTSW	16	57,392,214 (GRCm39)	missense	probably damaging	1.00
R1764:Filip1l	UTSW	16	57,390,401 (GRCm39)	missense	probably damaging	1.00
R1809:Filip1l	UTSW	16	57,327,023 (GRCm39)	missense	probably benign
R1983:Filip1l	UTSW	16	57,391,637 (GRCm39)	missense	probably damaging	0.98
R2504:Filip1l	UTSW	16	57,391,410 (GRCm39)	missense	probably damaging	0.97
R2504:Filip1l	UTSW	16	57,391,025 (GRCm39)	missense	possibly damaging	0.76
R3844:Filip1l	UTSW	16	57,392,790 (GRCm39)	missense	probably benign	0.15
R3871:Filip1l	UTSW	16	57,333,649 (GRCm39)	missense	probably damaging	0.97
R4231:Filip1l	UTSW	16	57,327,131 (GRCm39)	missense	probably benign
R4391:Filip1l	UTSW	16	57,391,155 (GRCm39)	nonsense	probably null
R4700:Filip1l	UTSW	16	57,391,058 (GRCm39)	missense	probably benign	0.00
R4999:Filip1l	UTSW	16	57,390,778 (GRCm39)	missense	probably benign	0.01
R5002:Filip1l	UTSW	16	57,391,466 (GRCm39)	missense	probably benign	0.01
R5123:Filip1l	UTSW	16	57,391,025 (GRCm39)	missense	possibly damaging	0.76
R5294:Filip1l	UTSW	16	57,390,399 (GRCm39)	missense	possibly damaging	0.59
R5429:Filip1l	UTSW	16	57,390,618 (GRCm39)	missense	probably damaging	0.99
R5811:Filip1l	UTSW	16	57,390,657 (GRCm39)	missense	probably damaging	1.00
R6220:Filip1l	UTSW	16	57,390,352 (GRCm39)	missense	probably benign	0.31
R6452:Filip1l	UTSW	16	57,327,163 (GRCm39)	missense	possibly damaging	0.82
R6678:Filip1l	UTSW	16	57,390,333 (GRCm39)	missense	probably benign	0.00
R6700:Filip1l	UTSW	16	57,391,611 (GRCm39)	missense	possibly damaging	0.86
R7260:Filip1l	UTSW	16	57,391,287 (GRCm39)	missense	probably damaging	1.00
R7327:Filip1l	UTSW	16	57,391,300 (GRCm39)	missense	probably damaging	1.00
R7578:Filip1l	UTSW	16	57,333,645 (GRCm39)	missense	probably damaging	0.99
R7691:Filip1l	UTSW	16	57,392,796 (GRCm39)	missense	probably benign	0.00
R7950:Filip1l	UTSW	16	57,390,074 (GRCm39)	missense	probably damaging	1.00
R8288:Filip1l	UTSW	16	57,390,917 (GRCm39)	missense	probably damaging	1.00
R8334:Filip1l	UTSW	16	57,390,510 (GRCm39)	missense	probably benign	0.18
R8392:Filip1l	UTSW	16	57,391,716 (GRCm39)	missense	probably damaging	1.00
R8742:Filip1l	UTSW	16	57,391,593 (GRCm39)	missense	probably damaging	1.00
R9020:Filip1l	UTSW	16	57,391,058 (GRCm39)	missense	probably benign	0.00
R9157:Filip1l	UTSW	16	57,391,980 (GRCm39)	missense	probably benign	0.04
RF019:Filip1l	UTSW	16	57,391,004 (GRCm39)	missense	probably benign	0.07
Z1088:Filip1l	UTSW	16	57,333,768 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTAGTGCTGCTAGGGTGTAAC -3'
(R):5'- GCACACCAAATTCATAGGCAGG -3'

Sequencing Primer
(F):5'- CTGCTAGGGTGTAACAGGTAC -3'
(R):5'- ATAGGCAGGCTTCCCCTTAGATG -3'

Posted On

2015-02-05