Mutagenetix > Incidental Mutation

Incidental Mutation 'R0834:Fip1l1'

77717

Institutional Source

Beutler Lab

Gene Symbol

Fip1l1

Ensembl Gene

ENSMUSG00000029227

Gene Name

factor interacting with PAPOLA and CPSF1

Synonyms

Rje, 1300019H17Rik

MMRRC Submission

039013-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0834 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

74696110-74759461 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 74755721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039744] [ENSMUST00000080164] [ENSMUST00000087161] [ENSMUST00000113531] [ENSMUST00000113534] [ENSMUST00000113535] [ENSMUST00000113536] [ENSMUST00000120618] [ENSMUST00000153543] [ENSMUST00000127396] [ENSMUST00000117525] [ENSMUST00000121690] [ENSMUST00000117388]

AlphaFold

Q9D824

Predicted Effect

probably benign
Transcript: ENSMUST00000039744

SMART Domains

Protein: ENSMUSP00000040098
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
Blast:PDZ	57	164	1e-33	BLAST
PDZ	188	263	5.33e-19	SMART
PDZ	295	368	2.27e-13	SMART
PDZ	417	494	8.27e-16	SMART
PDZ	547	624	5.71e-19	SMART

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 benign
Transcript: ENSMUST00000087161

SMART Domains

Protein: ENSMUSP00000084405
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
RING	45	82	5.82e-6	SMART
low complexity region	97	107	N/A	INTRINSIC
Blast:PDZ	157	264	3e-33	BLAST
PDZ	288	363	5.33e-19	SMART
PDZ	395	468	2.27e-13	SMART
PDZ	517	594	8.27e-16	SMART
PDZ	647	724	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113531

SMART Domains

Protein: ENSMUSP00000109159
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
Blast:PDZ	2	105	2e-32	BLAST
PDZ	129	204	5.33e-19	SMART
PDZ	236	309	2.27e-13	SMART
PDZ	358	435	8.27e-16	SMART
PDZ	488	565	5.71e-19	SMART

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 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 benign
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: ENSMUST00000139697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125129

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153543

SMART Domains

Protein: ENSMUSP00000121094
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
Blast:PDZ	2	105	9e-37	BLAST
Blast:PDZ	129	159	1e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000127396

SMART Domains

Protein: ENSMUSP00000120886
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117525

SMART Domains

Protein: ENSMUSP00000113837
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
Blast:PDZ	57	164	1e-33	BLAST
PDZ	188	263	5.33e-19	SMART
PDZ	295	368	2.27e-13	SMART
PDZ	417	494	8.27e-16	SMART
PDZ	547	624	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121690

SMART Domains

Protein: ENSMUSP00000113565
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
PDZ	178	253	5.33e-19	SMART
PDZ	285	358	2.27e-13	SMART
PDZ	407	484	8.27e-16	SMART
PDZ	537	614	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117388

SMART Domains

Protein: ENSMUSP00000113035
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
RING	45	82	5.82e-6	SMART
low complexity region	97	107	N/A	INTRINSIC
Blast:PDZ	157	264	3e-33	BLAST
PDZ	288	363	5.33e-19	SMART
PDZ	395	468	2.27e-13	SMART
PDZ	517	594	8.27e-16	SMART
PDZ	647	724	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140084

SMART Domains

Protein: ENSMUSP00000117935
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
PDZ	1	47	2.73e-1	SMART
PDZ	79	154	1.51e-9	SMART
PDZ	156	233	8.27e-16	SMART
SCOP:d1qaua_	274	322	3e-7	SMART
Blast:PDZ	286	322	4e-19	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,063,899 (GRCm39)	E66V	probably damaging	Het
Aldh1a3	T	C	7: 66,062,658 (GRCm39)	I156V	probably benign	Het
Ang4	T	A	14: 52,001,725 (GRCm39)	K74N	probably benign	Het
Arcn1	A	T	9: 44,670,172 (GRCm39)		probably benign	Het
Arhgef33	T	A	17: 80,655,026 (GRCm39)		probably benign	Het
Atn1	A	G	6: 124,720,188 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,185 (GRCm39)	H359R	probably damaging	Het
Bmerb1	T	C	16: 13,911,795 (GRCm39)	L47P	probably damaging	Het
Brip1	T	C	11: 86,083,653 (GRCm39)	T123A	probably benign	Het
Camkv	A	G	9: 107,823,045 (GRCm39)	Y95C	probably damaging	Het
Cdk12	T	A	11: 98,095,211 (GRCm39)	S340T	probably benign	Het
Ckap2l	G	A	2: 129,138,224 (GRCm39)		probably benign	Het
Clmn	A	T	12: 104,738,085 (GRCm39)	L1042Q	probably damaging	Het
Clmn	G	T	12: 104,738,086 (GRCm39)	L1042M	probably damaging	Het
Cluh	T	C	11: 74,554,631 (GRCm39)	V737A	probably benign	Het
Cpne8	A	G	15: 90,424,462 (GRCm39)	V309A	probably benign	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,747,073 (GRCm39)		probably benign	Het
Ctr9	T	A	7: 110,650,159 (GRCm39)	S818T	probably benign	Het
Cyp26a1	C	T	19: 37,688,405 (GRCm39)	A309V	probably damaging	Het
Dbndd2	C	T	2: 164,332,122 (GRCm39)	T115I	possibly damaging	Het
Dhcr7	A	G	7: 143,394,964 (GRCm39)	N157S	probably benign	Het
Dlx2	C	A	2: 71,375,859 (GRCm39)	V155F	probably damaging	Het
Duox1	A	T	2: 122,176,982 (GRCm39)	I1470F	probably damaging	Het
Esrrb	A	T	12: 86,517,071 (GRCm39)	I68F	probably benign	Het
Fhod3	T	A	18: 25,248,862 (GRCm39)	L1347*	probably null	Het
Frem3	A	G	8: 81,413,637 (GRCm39)	Y1966C	probably damaging	Het
Gatd3a	T	C	10: 77,998,539 (GRCm39)	D229G	probably damaging	Het
Ggt5	C	T	10: 75,440,604 (GRCm39)	R242C	possibly damaging	Het
Gm14496	G	A	2: 181,637,480 (GRCm39)	V185I	probably benign	Het
Gnptab	T	C	10: 88,265,814 (GRCm39)	V409A	probably damaging	Het
Gramd1a	A	G	7: 30,837,589 (GRCm39)	F390S	possibly damaging	Het
Helz2	A	G	2: 180,872,570 (GRCm39)	S2477P	probably damaging	Het
Hsd17b3	T	C	13: 64,236,936 (GRCm39)	K3E	probably benign	Het
Ift172	T	C	5: 31,414,715 (GRCm39)	H1395R	probably benign	Het
Jam2	T	A	16: 84,609,855 (GRCm39)	C180S	probably damaging	Het
Kalrn	A	C	16: 33,870,289 (GRCm39)	S160A	possibly damaging	Het
Kcnk3	T	C	5: 30,779,979 (GRCm39)	I343T	probably damaging	Het
Kif13a	T	C	13: 46,967,712 (GRCm39)	E334G	probably damaging	Het
Klhl41	A	G	2: 69,508,491 (GRCm39)	K482E	possibly damaging	Het
Lig3	A	G	11: 82,689,113 (GRCm39)	E794G	probably damaging	Het
Myh13	T	C	11: 67,240,436 (GRCm39)	M780T	possibly damaging	Het
Ndst2	A	G	14: 20,779,761 (GRCm39)	Y160H	probably damaging	Het
Ndufb10	T	C	17: 24,941,648 (GRCm39)	M90V	probably damaging	Het
Obscn	T	C	11: 59,024,104 (GRCm39)	K522R	probably benign	Het
Olfml2b	T	C	1: 170,475,413 (GRCm39)	S113P	probably benign	Het
Or14a257	T	A	7: 86,138,698 (GRCm39)	E20D	probably benign	Het
Or4a78	A	G	2: 89,497,423 (GRCm39)	I269T	probably benign	Het
Or4d10b	T	A	19: 12,036,979 (GRCm39)	M46L	probably benign	Het
Or51v14	T	C	7: 103,261,444 (GRCm39)	T39A	probably benign	Het
Or6k2	T	A	1: 173,986,930 (GRCm39)	M197K	possibly damaging	Het
Parg	T	C	14: 31,936,511 (GRCm39)		probably benign	Het
Pde7a	C	T	3: 19,284,482 (GRCm39)	C367Y	probably damaging	Het
Pigr	T	A	1: 130,772,281 (GRCm39)	C166*	probably null	Het
Pip4k2c	A	T	10: 127,036,704 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prkd2	A	T	7: 16,599,602 (GRCm39)		probably benign	Het
Ptprt	G	T	2: 161,654,059 (GRCm39)		probably null	Het
Rapgef5	C	T	12: 117,610,741 (GRCm39)		probably benign	Het
Retreg1	T	C	15: 25,971,756 (GRCm39)	L356P	probably benign	Het
Rigi	T	A	4: 40,239,596 (GRCm39)	E34V	possibly damaging	Het
Rnf43	A	G	11: 87,622,077 (GRCm39)	T393A	probably benign	Het
Samd3	T	C	10: 26,147,725 (GRCm39)	S467P	probably benign	Het
Scarf1	C	A	11: 75,405,229 (GRCm39)	C89*	probably null	Het
Sdk1	T	C	5: 141,227,779 (GRCm39)	L59S	probably benign	Het
Sgca	C	T	11: 94,861,512 (GRCm39)	W244*	probably null	Het
Sh3d21	T	C	4: 126,045,065 (GRCm39)	K538R	probably benign	Het
Smyd4	T	A	11: 75,281,958 (GRCm39)	L477Q	possibly damaging	Het
Sra1	A	G	18: 36,801,829 (GRCm39)	M87T	probably benign	Het
Ssh2	T	C	11: 77,328,459 (GRCm39)	Y336H	possibly damaging	Het
Steap1	T	C	5: 5,790,357 (GRCm39)	Y197C	probably damaging	Het
Strn3	A	G	12: 51,673,879 (GRCm39)		probably benign	Het
Tgm3	A	G	2: 129,868,677 (GRCm39)	T205A	probably benign	Het
Tll2	G	A	19: 41,101,512 (GRCm39)	T374I	probably damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Trim10	G	A	17: 37,183,283 (GRCm39)	S193N	probably benign	Het
Ttf1	A	T	2: 28,963,962 (GRCm39)	K613*	probably null	Het
Tube1	T	A	10: 39,010,168 (GRCm39)		probably null	Het
Uimc1	T	A	13: 55,224,222 (GRCm39)		probably null	Het
Wwp2	G	T	8: 108,283,428 (GRCm39)		probably benign	Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp292	T	C	4: 34,809,114 (GRCm39)	D1310G	probably benign	Het
Zfp575	A	T	7: 24,285,245 (GRCm39)	L132H	probably damaging	Het
Zmym2	T	C	14: 57,194,420 (GRCm39)	F1226S	probably damaging	Het
Zswim6	A	C	13: 107,862,989 (GRCm39)		noncoding transcript	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
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
R9473:Fip1l1	UTSW	5	74,745,719 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGGGTGAGGTAGCTGAGATATAC -3'
(R):5'- TGGAGCCGGGTCACTACTAAAGAAC -3'

Sequencing Primer
(F):5'- CTACTGTAGAAGCTACTGTGAGC -3'
(R):5'- GGGTCACTACTAAAGAACAAACCTG -3'

Posted On

2013-10-16