Mutagenetix > Incidental Mutation

Incidental Mutation 'R7325:Fip1l1'

568810

Institutional Source

Beutler Lab

Gene Symbol

Fip1l1

Ensembl Gene

ENSMUSG00000029227

Gene Name

factor interacting with PAPOLA and CPSF1

Synonyms

Rje, 1300019H17Rik

MMRRC Submission

045419-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R7325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74696110-74759461 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 74697460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109164 (fasta)

Gene Model

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

AlphaFold

Q9D824

Predicted Effect

probably null
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 null
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 null
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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,571,711 (GRCm39)	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,869,917 (GRCm39)	T638A	probably benign	Het
Agtr1a	A	C	13: 30,565,890 (GRCm39)	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,777,294 (GRCm39)	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,559,637 (GRCm39)	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,620,599 (GRCm39)	L484P	possibly damaging	Het
Astn2	C	T	4: 65,460,906 (GRCm39)	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213 (GRCm39)	L290F	probably benign	Het
Boll	T	C	1: 55,343,757 (GRCm39)	Y222C	probably damaging	Het
Bphl	A	T	13: 34,234,324 (GRCm39)	I147F	possibly damaging	Het
Cadps2	T	G	6: 23,409,934 (GRCm39)	D766A	unknown	Het
Cd300lb	T	A	11: 114,815,858 (GRCm39)	K210M	probably damaging	Het
Cdan1	T	C	2: 120,555,185 (GRCm39)	Q797R	probably benign	Het
Celsr1	T	A	15: 85,917,209 (GRCm39)	S255C	probably damaging	Het
Cfap91	T	A	16: 38,141,963 (GRCm39)		probably null	Het
Cip2a	T	A	16: 48,826,184 (GRCm39)	M417K	probably benign	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Dennd5b	T	A	6: 148,922,068 (GRCm39)	K815N	probably benign	Het
Exd1	A	G	2: 119,350,620 (GRCm39)	V547A	probably benign	Het
Fbxo15	C	T	18: 84,977,243 (GRCm39)	R52C	probably damaging	Het
Flg2	T	A	3: 93,110,679 (GRCm39)	N902K	unknown	Het
Fyttd1	T	A	16: 32,704,618 (GRCm39)	N76K	probably benign	Het
Gins1	T	A	2: 150,758,086 (GRCm39)	D57E	probably benign	Het
Gm5565	G	C	5: 146,095,171 (GRCm39)		probably null	Het
Gpsm2	T	C	3: 108,610,244 (GRCm39)	Y72C	probably damaging	Het
Hace1	C	A	10: 45,465,603 (GRCm39)	S53*	probably null	Het
Insig2	A	G	1: 121,234,666 (GRCm39)	V188A	possibly damaging	Het
Ism1	T	C	2: 139,598,963 (GRCm39)	V312A	probably damaging	Het
Jmy	A	T	13: 93,609,251 (GRCm39)	Y353N	probably damaging	Het
Maz	A	C	7: 126,624,725 (GRCm39)	V265G	probably benign	Het
Mtmr14	T	A	6: 113,246,509 (GRCm39)	I426N	probably damaging	Het
Or1e34	C	T	11: 73,779,101 (GRCm39)	M32I	probably benign	Het
Or5b113	A	G	19: 13,342,001 (GRCm39)	E3G	probably benign	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,413 (GRCm39)	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,476,440 (GRCm39)	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Podn	C	T	4: 107,874,899 (GRCm39)		probably null	Het
Prim1	A	G	10: 127,858,788 (GRCm39)	D232G	probably null	Het
Prrt1	T	A	17: 34,851,161 (GRCm39)	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,167,407 (GRCm39)	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,643,782 (GRCm39)	V53L	probably benign	Het
Shank2	C	A	7: 143,965,422 (GRCm39)	P1010Q	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,294,766 (GRCm39)	A158S	probably damaging	Het
Slc9a9	C	T	9: 94,594,951 (GRCm39)	H154Y	probably benign	Het
Slco1a8	T	C	6: 141,934,951 (GRCm39)	K379E	probably damaging	Het
Slco2a1	T	A	9: 102,962,948 (GRCm39)		probably null	Het
Snapc3	T	C	4: 83,353,507 (GRCm39)	I182T	probably benign	Het
Taok2	A	G	7: 126,470,260 (GRCm39)	V856A	probably benign	Het
Tep1	T	A	14: 51,103,495 (GRCm39)	N265I	probably damaging	Het
Tespa1	A	T	10: 130,197,910 (GRCm39)	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,194,960 (GRCm39)	Q14*	probably null	Het
Trim33	T	C	3: 103,228,952 (GRCm39)	F353L	possibly damaging	Het
Upp1	T	C	11: 9,084,743 (GRCm39)	V154A	probably damaging	Het
Usp34	T	C	11: 23,369,052 (GRCm39)	I1747T		Het
Vmn1r47	T	C	6: 89,999,254 (GRCm39)	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,524,249 (GRCm39)	Y81C	probably benign	Het
Ybx2	A	T	11: 69,831,181 (GRCm39)	T259S	probably benign	Het
Zfp536	T	C	7: 37,179,285 (GRCm39)	T1107A	probably benign	Het
Zfp583	C	T	7: 6,319,585 (GRCm39)	A476T	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
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
R9473:Fip1l1	UTSW	5	74,745,719 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCTTAAGCAGCCTTTTAGTAATG -3'
(R):5'- GAGAGAGTTCACCAACCTGG -3'

Sequencing Primer
(F):5'- GCAGCCTTTTAGTAATGAAACTCCG -3'
(R):5'- GAGAGTTCACCAACCTGGCATTTTC -3'

Posted On

2019-09-13