Mutagenetix > Incidental Mutation

Incidental Mutation 'R9473:Fip1l1'

715563

Institutional Source

Beutler Lab

Gene Symbol

Fip1l1

Ensembl Gene

ENSMUSG00000029227

Gene Name

factor interacting with PAPOLA and CPSF1

Synonyms

Rje, 1300019H17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R9473 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74696110-74759461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74745719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 372 (T372I)

Ref Sequence

ENSEMBL: ENSMUSP00000109164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080164] [ENSMUST00000113534] [ENSMUST00000113535] [ENSMUST00000113536] [ENSMUST00000120618]

AlphaFold

Q9D824

Predicted Effect

probably damaging
Transcript: ENSMUST00000080164
AA Change: T336I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: T336I

Domain	Start	End	E-Value	Type
low complexity region	44	53	N/A	INTRINSIC
low complexity region	78	94	N/A	INTRINSIC
Pfam:Fip1	152	196	1.2e-28	PFAM
low complexity region	296	357	N/A	INTRINSIC
low complexity region	405	441	N/A	INTRINSIC
low complexity region	453	507	N/A	INTRINSIC
low complexity region	510	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113534

SMART Domains

Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227

Domain	Start	End	E-Value	Type
low complexity region	44	53	N/A	INTRINSIC
low complexity region	78	94	N/A	INTRINSIC
Pfam:Fip1	152	196	1.1e-28	PFAM
low complexity region	270	290	N/A	INTRINSIC
low complexity region	355	405	N/A	INTRINSIC
low complexity region	455	491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113535

SMART Domains

Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227

Domain	Start	End	E-Value	Type
low complexity region	44	53	N/A	INTRINSIC
low complexity region	78	94	N/A	INTRINSIC
Pfam:Fip1	152	196	6.4e-29	PFAM
low complexity region	296	346	N/A	INTRINSIC
low complexity region	396	432	N/A	INTRINSIC
low complexity region	444	498	N/A	INTRINSIC
low complexity region	501	514	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113536
AA Change: T372I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: T372I

Domain	Start	End	E-Value	Type
low complexity region	44	53	N/A	INTRINSIC
low complexity region	78	94	N/A	INTRINSIC
Pfam:Fip1	152	196	1.3e-28	PFAM
low complexity region	247	267	N/A	INTRINSIC
low complexity region	332	393	N/A	INTRINSIC
low complexity region	441	477	N/A	INTRINSIC
low complexity region	489	543	N/A	INTRINSIC
low complexity region	546	559	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120618
AA Change: T380I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
AA Change: T380I

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
low complexity region	63	79	N/A	INTRINSIC
Pfam:Fip1	137	181	2e-29	PFAM
low complexity region	255	275	N/A	INTRINSIC
low complexity region	340	401	N/A	INTRINSIC
low complexity region	449	485	N/A	INTRINSIC
low complexity region	497	551	N/A	INTRINSIC
low complexity region	554	567	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,980,912 (GRCm39)	P107L	probably benign	Het
Abcc10	T	C	17: 46,617,609 (GRCm39)	N1142S	probably benign	Het
Accsl	T	C	2: 93,686,092 (GRCm39)	H575R	probably benign	Het
Adgra2	T	A	8: 27,610,943 (GRCm39)	L964Q	probably damaging	Het
Akap5	T	C	12: 76,376,632 (GRCm39)	L688P	probably damaging	Het
Anapc10	A	G	8: 80,501,673 (GRCm39)	N147S	probably damaging	Het
Atm	C	T	9: 53,410,272 (GRCm39)	E1059K	probably benign	Het
Bltp2	G	A	11: 78,174,983 (GRCm39)	R1706H	probably damaging	Het
Bmf	A	C	2: 118,363,104 (GRCm39)	F251V	probably benign	Het
Capn3	G	T	2: 120,326,535 (GRCm39)	E576*	probably null	Het
Capns2	T	C	8: 93,628,854 (GRCm39)	*248R	probably null	Het
Ceacam13	G	T	7: 17,747,281 (GRCm39)	V245L	probably benign	Het
Clcn3	T	C	8: 61,407,651 (GRCm39)	D2G	probably benign	Het
Dcstamp	G	A	15: 39,617,972 (GRCm39)	C127Y	probably damaging	Het
Dnmt3l	C	T	10: 77,886,022 (GRCm39)	Q36*	probably null	Het
Dpys	A	G	15: 39,687,583 (GRCm39)	I405T	possibly damaging	Het
Duoxa1	A	G	2: 122,134,326 (GRCm39)	I309T	probably benign	Het
Eif2b1	G	A	5: 124,712,677 (GRCm39)	Q156*	probably null	Het
Eif3l	T	A	15: 78,970,704 (GRCm39)	M326K	probably damaging	Het
Fbxl13	T	C	5: 21,790,243 (GRCm39)	N267D	possibly damaging	Het
Galt	A	G	4: 41,757,575 (GRCm39)	N249S	probably benign	Het
Gm17324	G	T	9: 78,355,839 (GRCm39)	R47S	unknown	Het
Gm45871	T	G	18: 90,609,093 (GRCm39)	D110E	probably benign	Het
Gtf2ird1	T	A	5: 134,433,534 (GRCm39)	T298S	probably benign	Het
Ighv7-4	T	C	12: 114,186,722 (GRCm39)	I17V	probably benign	Het
Krt7	C	T	15: 101,318,409 (GRCm39)	R299W	probably damaging	Het
Macc1	A	G	12: 119,297,990 (GRCm39)		probably benign	Het
Mturn	G	A	6: 54,666,009 (GRCm39)	E61K	probably benign	Het
Nol11	T	C	11: 107,075,581 (GRCm39)	D149G	probably null	Het
Nr4a3	A	T	4: 48,052,143 (GRCm39)	N299I	probably damaging	Het
Pip5k1b	A	T	19: 24,335,590 (GRCm39)	I351N	probably damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Pramel11	T	G	4: 143,620,815 (GRCm39)	T468P	probably benign	Het
Rdh19	A	G	10: 127,696,177 (GRCm39)	T310A	probably benign	Het
Rflnb	T	A	11: 75,913,064 (GRCm39)	Y108F	probably damaging	Het
Rfx1	A	T	8: 84,819,903 (GRCm39)	I713F	probably damaging	Het
Saxo5	G	A	8: 3,529,232 (GRCm39)	C239Y	probably benign	Het
Scgn	T	C	13: 24,143,731 (GRCm39)		probably null	Het
Serpina1d	T	C	12: 103,729,939 (GRCm39)	*414W	probably null	Het
Slc18a3	T	C	14: 32,185,913 (GRCm39)	I157V	probably benign	Het
Steap1	T	C	5: 5,790,378 (GRCm39)	Y190C	probably damaging	Het
Svep1	A	G	4: 58,064,243 (GRCm39)	S3247P	probably benign	Het
Syne1	T	C	10: 5,198,258 (GRCm39)	I3778V	probably benign	Het
Tas2r114	T	C	6: 131,666,104 (GRCm39)	D308G	probably benign	Het
Tpm2	A	T	4: 43,514,813 (GRCm39)	L274*	probably null	Het
Ttc39b	A	G	4: 83,181,977 (GRCm39)	F81L	possibly damaging	Het
Ttn	A	G	2: 76,547,338 (GRCm39)	V32236A	probably damaging	Het
Ubr5	A	G	15: 38,002,617 (GRCm39)	V1472A		Het
Ugt2b1	A	T	5: 87,065,539 (GRCm39)	V500D	possibly damaging	Het
Vpreb1b	G	A	16: 17,798,565 (GRCm39)	C17Y	probably benign	Het
Wscd1	A	G	11: 71,679,644 (GRCm39)	N506D	probably damaging	Het

Other mutations in Fip1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Fip1l1	APN	5	74,747,726 (GRCm39)	splice site	probably benign
IGL02008:Fip1l1	APN	5	74,706,084 (GRCm39)	missense	possibly damaging	0.80
IGL02069:Fip1l1	APN	5	74,752,534 (GRCm39)	missense	probably damaging	1.00
IGL02406:Fip1l1	APN	5	74,725,205 (GRCm39)	missense	probably benign	0.01
IGL02514:Fip1l1	APN	5	74,731,813 (GRCm39)	missense	probably damaging	1.00
IGL03139:Fip1l1	APN	5	74,731,776 (GRCm39)	missense	possibly damaging	0.84
R0031:Fip1l1	UTSW	5	74,717,770 (GRCm39)	missense	probably damaging	1.00
R0325:Fip1l1	UTSW	5	74,756,503 (GRCm39)	missense	probably damaging	1.00
R0600:Fip1l1	UTSW	5	74,756,503 (GRCm39)	missense	probably damaging	1.00
R0834:Fip1l1	UTSW	5	74,755,721 (GRCm39)	unclassified	probably benign
R1183:Fip1l1	UTSW	5	74,755,763 (GRCm39)	missense	probably damaging	1.00
R1328:Fip1l1	UTSW	5	74,706,796 (GRCm39)	missense	possibly damaging	0.94
R2434:Fip1l1	UTSW	5	74,707,485 (GRCm39)	missense	possibly damaging	0.81
R4120:Fip1l1	UTSW	5	74,748,852 (GRCm39)	missense	probably damaging	1.00
R4197:Fip1l1	UTSW	5	74,696,397 (GRCm39)	missense	probably damaging	1.00
R4440:Fip1l1	UTSW	5	74,697,446 (GRCm39)	intron	probably benign
R4825:Fip1l1	UTSW	5	74,748,866 (GRCm39)	splice site	probably null
R4838:Fip1l1	UTSW	5	74,752,600 (GRCm39)	missense	probably damaging	1.00
R5800:Fip1l1	UTSW	5	74,706,742 (GRCm39)	missense	possibly damaging	0.77
R6159:Fip1l1	UTSW	5	74,752,608 (GRCm39)	missense	probably damaging	1.00
R6556:Fip1l1	UTSW	5	74,707,838 (GRCm39)	critical splice donor site	probably null
R6724:Fip1l1	UTSW	5	74,752,435 (GRCm39)	missense	probably damaging	0.99
R6984:Fip1l1	UTSW	5	74,702,734 (GRCm39)	missense	probably damaging	0.99
R7092:Fip1l1	UTSW	5	74,697,504 (GRCm39)	missense	probably damaging	0.98
R7205:Fip1l1	UTSW	5	74,748,736 (GRCm39)	splice site	probably null
R7325:Fip1l1	UTSW	5	74,697,460 (GRCm39)	critical splice acceptor site	probably null
R7590:Fip1l1	UTSW	5	74,752,435 (GRCm39)	missense	probably benign	0.41
R8182:Fip1l1	UTSW	5	74,748,813 (GRCm39)	missense	probably damaging	0.99
R8826:Fip1l1	UTSW	5	74,725,188 (GRCm39)	missense	probably benign	0.01
R8905:Fip1l1	UTSW	5	74,756,624 (GRCm39)	missense	probably damaging	0.99
R8950:Fip1l1	UTSW	5	74,756,524 (GRCm39)	missense	probably damaging	1.00
R9154:Fip1l1	UTSW	5	74,747,703 (GRCm39)	missense	possibly damaging	0.95
R9372:Fip1l1	UTSW	5	74,707,463 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TCATCAGGAAAGTTGGATGCTG -3'
(R):5'- TAGACATGGGTAAGACAAGTTTACG -3'

Sequencing Primer
(F):5'- ATCAGGAAAGTTGGATGCTGTATTTG -3'
(R):5'- AACTGTCTTAGTGCTGGAATGAAGC -3'

Posted On

2022-06-15