Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02514:Fip1l1'

296701

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fip1l1

Ensembl Gene

ENSMUSG00000029227

Gene Name

factor interacting with PAPOLA and CPSF1

Synonyms

Rje, 1300019H17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL02514

Quality Score

Status

Chromosome

Chromosomal Location

74696110-74759461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74731813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 310 (V310A)

Ref Sequence

ENSEMBL: ENSMUSP00000113995 (fasta)

Gene Model

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

AlphaFold

Q9D824

Predicted Effect

probably damaging
Transcript: ENSMUST00000080164
AA Change: V266A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: V266A

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

possibly damaging
Transcript: ENSMUST00000113534
AA Change: V325A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
AA Change: V325A

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

possibly damaging
Transcript: ENSMUST00000113535
AA Change: V266A

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
AA Change: V266A

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: V302A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: V302A

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: V310A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
AA Change: V310A

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: ENSMUST00000201412

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,909 (GRCm39)	C114*	probably null	Het
4933421I07Rik	A	G	7: 42,096,981 (GRCm39)	M110T	probably damaging	Het
Amer1	A	G	X: 94,470,117 (GRCm39)	V667A	possibly damaging	Het
Casr	C	T	16: 36,320,687 (GRCm39)	G487E	probably damaging	Het
Catsperd	G	A	17: 56,968,271 (GRCm39)	G552D	probably damaging	Het
Ceacam3	A	G	7: 16,896,906 (GRCm39)	D624G	possibly damaging	Het
Celsr2	A	G	3: 108,304,826 (GRCm39)	V2208A	probably benign	Het
Cibar1	T	G	4: 12,164,080 (GRCm39)		probably benign	Het
Clca4a	G	A	3: 144,660,832 (GRCm39)	S664F	probably damaging	Het
Ddx23	A	T	15: 98,556,199 (GRCm39)	S40T	unknown	Het
Dhodh	G	A	8: 110,332,896 (GRCm39)	R58*	probably null	Het
Dhx36	A	G	3: 62,408,319 (GRCm39)	L173S	possibly damaging	Het
Dnaaf5	C	T	5: 139,159,872 (GRCm39)		probably benign	Het
Dnah3	T	C	7: 119,565,470 (GRCm39)	D2546G	probably damaging	Het
Eef2	T	G	10: 81,015,427 (GRCm39)	I316S	probably benign	Het
Efcab6	T	C	15: 83,917,143 (GRCm39)	D139G	possibly damaging	Het
Efcab6	A	T	15: 83,755,512 (GRCm39)		probably benign	Het
Eif4g3	T	A	4: 137,853,505 (GRCm39)	I357N	possibly damaging	Het
Elovl2	G	A	13: 41,348,247 (GRCm39)	T44M	probably benign	Het
Fbln1	T	A	15: 85,128,463 (GRCm39)	C553*	probably null	Het
Gast	A	G	11: 100,227,718 (GRCm39)	D100G	probably benign	Het
Gk	G	A	X: 84,756,970 (GRCm39)		probably benign	Het
Gm1330	G	A	2: 148,841,305 (GRCm39)		probably benign	Het
Hspg2	C	A	4: 137,296,887 (GRCm39)	T4355K	probably benign	Het
Ipo7	T	C	7: 109,648,035 (GRCm39)	V639A	possibly damaging	Het
Lrrc7	T	C	3: 157,865,929 (GRCm39)	M1271V	probably damaging	Het
Msantd1	T	A	5: 35,078,887 (GRCm39)	S141T	probably damaging	Het
Myo9b	T	C	8: 71,743,650 (GRCm39)	I237T	probably damaging	Het
Or10ag59	G	A	2: 87,405,537 (GRCm39)	M36I	probably benign	Het
Or13a21	A	T	7: 139,999,507 (GRCm39)	Y60N	probably damaging	Het
Or2w3	T	C	11: 58,556,469 (GRCm39)	F28S	probably damaging	Het
Or4k40	A	C	2: 111,251,117 (GRCm39)	Y60D	probably damaging	Het
Pan2	A	T	10: 128,146,610 (GRCm39)	M416L	possibly damaging	Het
Pank4	T	C	4: 155,054,922 (GRCm39)	F209L	probably damaging	Het
Pcdhb13	A	T	18: 37,576,044 (GRCm39)	I141L	possibly damaging	Het
Pik3r2	A	G	8: 71,223,236 (GRCm39)	Y422H	probably benign	Het
Pramel14	T	C	4: 143,719,772 (GRCm39)	K198E	probably benign	Het
Prdm4	A	T	10: 85,743,781 (GRCm39)	I158N	probably damaging	Het
Prl	T	G	13: 27,243,377 (GRCm39)	L14R	probably damaging	Het
Rabl6	C	A	2: 25,498,188 (GRCm39)	A23S	probably damaging	Het
Rbm15b	T	A	9: 106,762,176 (GRCm39)	H664L	probably damaging	Het
Rhobtb1	T	A	10: 69,125,471 (GRCm39)	H618Q	probably benign	Het
Slc15a1	T	C	14: 121,724,452 (GRCm39)	K140R	probably damaging	Het
Slc6a17	A	G	3: 107,402,993 (GRCm39)	S145P	possibly damaging	Het
Snx31	T	C	15: 36,525,728 (GRCm39)	T324A	probably damaging	Het
Spatc1l	T	C	10: 76,405,490 (GRCm39)		probably benign	Het
Taar7b	A	G	10: 23,876,882 (GRCm39)	N349S	probably benign	Het
Tbx19	T	C	1: 164,981,273 (GRCm39)	I74V	probably benign	Het
Tmtc2	G	A	10: 105,025,960 (GRCm39)	T836I	possibly damaging	Het
Vmn2r72	C	A	7: 85,387,907 (GRCm39)	M552I	possibly damaging	Het
Vsig10l	A	G	7: 43,113,338 (GRCm39)	T199A	probably benign	Het
Washc4	A	T	10: 83,405,947 (GRCm39)	E481V	probably damaging	Het
Zc3h15	T	A	2: 83,483,725 (GRCm39)	N33K	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
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
R9473:Fip1l1	UTSW	5	74,745,719 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16