Mutagenetix > Incidental Mutations

Incidental Mutation 'R6556:Fip1l1'

522148

Institutional Source

Beutler Lab

Gene Symbol

Fip1l1

Ensembl Gene

ENSMUSG00000029227

Gene Name

FIP1 like 1 (S. cerevisiae)

Synonyms

1300019H17Rik, Rje

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R6556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74535449-74598800 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 74547177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113995 (fasta)

Gene Model

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

AlphaFold

Q9D824

Predicted Effect

probably benign
Transcript: ENSMUST00000080164

SMART Domains

Protein: ENSMUSP00000079059
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	1.2e-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 null
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 benign
Transcript: ENSMUST00000113536

SMART Domains

Protein: ENSMUSP00000109164
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	1.3e-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 null
Transcript: ENSMUST00000120618

SMART Domains

Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121950

SMART Domains

Protein: ENSMUSP00000113611
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	153	195	6.6e-29	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
low complexity region	503	557	N/A	INTRINSIC
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200979

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	A	G	15: 81,980,738	D60G	probably damaging	Het
2310035C23Rik	T	A	1: 105,726,440	F845I	probably damaging	Het
4930539E08Rik	T	A	17: 28,904,611	D114V	probably damaging	Het
AF366264	G	A	8: 13,837,690	Q134*	probably null	Het
Atp2a1	G	T	7: 126,450,262	P536Q	probably benign	Het
Cabyr	T	A	18: 12,751,016	S187T	probably benign	Het
Camkk1	A	T	11: 73,033,870	N303I	probably benign	Het
Cdh13	C	T	8: 118,968,187	P259S	probably damaging	Het
Csnk1g3	A	G	18: 53,930,282	D255G	possibly damaging	Het
Dennd5b	A	C	6: 149,014,251		probably null	Het
Dnajc14	A	G	10: 128,814,631	D528G	probably benign	Het
Edem1	T	C	6: 108,854,357	F593S	probably benign	Het
Erbb2	G	A	11: 98,436,082	D1106N	possibly damaging	Het
Ermp1	T	C	19: 29,612,921	M794V	possibly damaging	Het
Fam208a	T	G	14: 27,429,258	Y64D	probably benign	Het
Fam214b	C	T	4: 43,033,896	R460H	probably damaging	Het
Gm11639	A	G	11: 105,008,251	N4343S	probably null	Het
Gm20730	C	T	6: 43,081,542	C112Y	probably damaging	Het
Gtf2h1	T	A	7: 46,808,665	C245S	probably damaging	Het
Hdhd5	T	C	6: 120,523,554	H61R	probably benign	Het
Ighv1-71	A	T	12: 115,742,472	V31E	probably damaging	Het
Igsf9b	T	C	9: 27,329,555	F688S	probably damaging	Het
Iqcd	T	C	5: 120,602,378	V258A	probably damaging	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Lpo	G	T	11: 87,817,763	Y136*	probably null	Het
Med30	A	G	15: 52,730,383		probably benign	Het
Mertk	T	A	2: 128,776,421	V524D	probably benign	Het
Olfr1156	T	C	2: 87,949,976	I86V	probably benign	Het
Olfr1261	T	A	2: 89,994,173	F260Y	probably benign	Het
Olfr1263	T	C	2: 90,015,094	Y55H	probably damaging	Het
Pde6b	T	A	5: 108,421,501	M358K	possibly damaging	Het
Prep	GA	G	10: 45,158,314		probably null	Het
Prpf4b	G	A	13: 34,896,032	R793Q	probably damaging	Het
Rela	T	A	19: 5,647,338	N524K	probably damaging	Het
Rnaset2a	T	C	17: 8,141,648	D74G	probably damaging	Het
Serinc2	T	A	4: 130,258,271	I267F	probably damaging	Het
Sesn3	T	C	9: 14,321,253	F274S	possibly damaging	Het
Spag1	T	C	15: 36,195,407	Y249H	probably damaging	Het
Sstr1	A	T	12: 58,213,692	D367V	possibly damaging	Het
Tnnt1	T	C	7: 4,509,577	E110G	probably damaging	Het
Tpm1	T	A	9: 67,028,169		probably null	Het
Unc93b1	T	C	19: 3,944,105	V412A	probably benign	Het
Uox	G	C	3: 146,624,648		probably null	Het
Usp44	T	C	10: 93,846,008	Y107H	probably benign	Het

Other mutations in Fip1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Fip1l1	APN	5	74587065	splice site	probably benign
IGL02008:Fip1l1	APN	5	74545423	missense	possibly damaging	0.80
IGL02069:Fip1l1	APN	5	74591873	missense	probably damaging	1.00
IGL02406:Fip1l1	APN	5	74564544	missense	probably benign	0.01
IGL02514:Fip1l1	APN	5	74571152	missense	probably damaging	1.00
IGL03139:Fip1l1	APN	5	74571115	missense	possibly damaging	0.84
R0031:Fip1l1	UTSW	5	74557109	missense	probably damaging	1.00
R0325:Fip1l1	UTSW	5	74595842	missense	probably damaging	1.00
R0600:Fip1l1	UTSW	5	74595842	missense	probably damaging	1.00
R0834:Fip1l1	UTSW	5	74595060	unclassified	probably benign
R1183:Fip1l1	UTSW	5	74595102	missense	probably damaging	1.00
R1328:Fip1l1	UTSW	5	74546135	missense	possibly damaging	0.94
R2434:Fip1l1	UTSW	5	74546824	missense	possibly damaging	0.81
R4120:Fip1l1	UTSW	5	74588191	missense	probably damaging	1.00
R4197:Fip1l1	UTSW	5	74535736	missense	probably damaging	1.00
R4440:Fip1l1	UTSW	5	74536785	intron	probably benign
R4825:Fip1l1	UTSW	5	74588205	splice site	probably null
R4838:Fip1l1	UTSW	5	74591939	missense	probably damaging	1.00
R5800:Fip1l1	UTSW	5	74546081	missense	possibly damaging	0.77
R6159:Fip1l1	UTSW	5	74591947	missense	probably damaging	1.00
R6724:Fip1l1	UTSW	5	74591774	missense	probably damaging	0.99
R6984:Fip1l1	UTSW	5	74542073	missense	probably damaging	0.99
R7092:Fip1l1	UTSW	5	74536843	missense	probably damaging	0.98
R7205:Fip1l1	UTSW	5	74588075	splice site	probably null
R7325:Fip1l1	UTSW	5	74536799	critical splice acceptor site	probably null
R7590:Fip1l1	UTSW	5	74591774	missense	probably benign	0.41
R8182:Fip1l1	UTSW	5	74588152	missense	probably damaging	0.99
R8826:Fip1l1	UTSW	5	74564527	missense	probably benign	0.01
R8905:Fip1l1	UTSW	5	74595963	missense	probably damaging	0.99
R8950:Fip1l1	UTSW	5	74595863	missense	probably damaging	1.00
R9154:Fip1l1	UTSW	5	74587042	missense	possibly damaging	0.95
R9372:Fip1l1	UTSW	5	74546802	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- ATCAGCTAGCTGTAGGCCAC -3'
(R):5'- GTGCCACCTATAATCACAGCAGAG -3'

Sequencing Primer
(F):5'- CACAGCTAGTTACTATTAATGTGGCC -3'
(R):5'- GCAGACAACAGCTTTACTTGG -3'

Posted On

2018-06-06