Mutagenetix > Incidental Mutation

Incidental Mutation 'R4231:Filip1l'

320882

Institutional Source

Beutler Lab

Gene Symbol

Filip1l

Ensembl Gene

ENSMUSG00000043336

Gene Name

filamin A interacting protein 1-like

Synonyms

4631422O05Rik

MMRRC Submission

041050-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57173640-57393167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57327131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 54 (S54P)

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: S54P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133252
Gene: ENSMUSG00000043336
AA Change: S54P

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: S54P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: S54P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Ajuba	T	C	14: 54,806,983 (GRCm39)	R490G	probably damaging	Het
Akap6	A	T	12: 53,187,821 (GRCm39)	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 25,095,636 (GRCm39)	G494R	probably damaging	Het
Ankar	T	C	1: 72,697,701 (GRCm39)	D1034G	probably benign	Het
Aox3	T	A	1: 58,154,044 (GRCm39)	N23K	probably benign	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atg14	T	C	14: 47,788,802 (GRCm39)	K184E	probably benign	Het
Bltp1	C	T	3: 36,974,385 (GRCm39)	T663I	probably benign	Het
Cacnb2	A	G	2: 14,986,251 (GRCm39)	K343E	probably damaging	Het
Casp8	T	C	1: 58,883,929 (GRCm39)	V432A	probably damaging	Het
Cd93	A	T	2: 148,284,880 (GRCm39)	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,755,834 (GRCm39)	M1V	probably null	Het
Crat	T	C	2: 30,303,023 (GRCm39)	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,273,858 (GRCm39)	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,155,304 (GRCm39)	P94S	probably damaging	Het
Dtx3	A	G	10: 127,029,058 (GRCm39)	I60T	possibly damaging	Het
Gm12887	A	T	4: 121,479,299 (GRCm39)	M1K	probably null	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Insyn2b	A	T	11: 34,353,143 (GRCm39)	E395V	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Irak2	A	G	6: 113,667,817 (GRCm39)	E466G	probably damaging	Het
Irgm2	C	T	11: 58,110,304 (GRCm39)		probably benign	Het
Jak3	T	A	8: 72,138,189 (GRCm39)	V880D	probably damaging	Het
Jmy	G	T	13: 93,635,433 (GRCm39)	P128T	probably benign	Het
Kif20a	A	G	18: 34,765,091 (GRCm39)	N775S	probably benign	Het
Kremen1	G	A	11: 5,193,881 (GRCm39)	Q50*	probably null	Het
Lrrc71	A	G	3: 87,648,298 (GRCm39)	I438T	probably benign	Het
Map3k1	T	C	13: 111,905,028 (GRCm39)	T374A	probably benign	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Mta1	T	C	12: 113,099,447 (GRCm39)	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,837,325 (GRCm39)	Q13L	probably benign	Het
Nbas	A	G	12: 13,443,344 (GRCm39)	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,767,660 (GRCm39)	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,310,137 (GRCm39)	T467S	probably damaging	Het
Or13a20	T	C	7: 140,232,653 (GRCm39)	Y254H	probably damaging	Het
Or4f17-ps1	C	T	2: 111,358,546 (GRCm39)	R314C	probably damaging	Het
Or7g30	T	A	9: 19,352,886 (GRCm39)	L226I	probably damaging	Het
Pam	A	G	1: 97,811,849 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,876,631 (GRCm39)	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,326,762 (GRCm39)	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,094,376 (GRCm39)	S71P	probably benign	Het
Ptprq	A	T	10: 107,522,144 (GRCm39)	Y602*	probably null	Het
Rfx4	A	T	10: 84,650,558 (GRCm39)	M84L	probably benign	Het
Rfx7	A	T	9: 72,526,672 (GRCm39)	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf216	A	T	5: 143,078,845 (GRCm39)	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,541,097 (GRCm39)	V402A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sart3	A	G	5: 113,909,479 (GRCm39)	M73T	probably benign	Het
Scn10a	G	T	9: 119,460,610 (GRCm39)	T1088K	probably damaging	Het
Senp2	T	C	16: 21,830,304 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,450,151 (GRCm39)	N92D	probably benign	Het
Sipa1	A	T	19: 5,704,117 (GRCm39)	L735Q	probably damaging	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,988,820 (GRCm39)	S296T	probably benign	Het
Spc24	T	C	9: 21,667,498 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,062,165 (GRCm39)	S806P	probably damaging	Het
Tgm3	A	T	2: 129,886,509 (GRCm39)	K577*	probably null	Het
Wscd2	A	G	5: 113,699,045 (GRCm39)	D200G	probably benign	Het
Xpo6	T	C	7: 125,773,354 (GRCm39)	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,310,991 (GRCm39)	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,161,041 (GRCm39)	K375*	probably null	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
R3117:Filip1l	UTSW	16	57,327,095 (GRCm39)	missense	probably benign	0.07
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
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'- GCTGCTAGGGTGTAACAGGTAC -3'
(R):5'- GCTATCAACTTCTCTAACAGCAAGC -3'

Sequencing Primer
(F):5'- GGGTGTAACAGGTACTTATAAAACTC -3'
(R):5'- GCACACCAAATTCATAGGCAGG -3'

Posted On

2015-06-12