Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Fip1l1'

183277

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 #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

74696110-74759461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74706084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 114 (T114I)

Ref Sequence

ENSEMBL: ENSMUSP00000109164 (fasta)

Gene Model

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

AlphaFold

Q9D824

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080164
AA Change: T114I

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: T114I

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: T114I

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
AA Change: T114I

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: T114I

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
AA Change: T114I

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

possibly damaging
Transcript: ENSMUST00000113536
AA Change: T114I

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: T114I

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

possibly damaging
Transcript: ENSMUST00000120618
AA Change: T99I

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
AA Change: T99I

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: ENSMUST00000135377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200979

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,969,750 (GRCm39)	T2252A	probably benign	Het
Abcc2	C	T	19: 43,810,189 (GRCm39)		probably benign	Het
Abcf1	T	C	17: 36,272,954 (GRCm39)	E231G	probably benign	Het
Astn2	T	C	4: 65,977,390 (GRCm39)	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,671,766 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,763,473 (GRCm39)		probably benign	Het
Bdp1	A	G	13: 100,160,335 (GRCm39)	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,402,886 (GRCm39)	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,692,885 (GRCm39)	S218G	probably null	Het
Cand2	T	C	6: 115,780,599 (GRCm39)	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,398,824 (GRCm39)	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,487,291 (GRCm39)	V161D	probably damaging	Het
Ctsh	A	G	9: 89,943,600 (GRCm39)	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,677,371 (GRCm39)	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,677,372 (GRCm39)	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,079,543 (GRCm39)	W212*	probably null	Het
Dnah5	T	A	15: 28,343,698 (GRCm39)	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,590,320 (GRCm39)	M794T	probably damaging	Het
F11	G	T	8: 45,703,132 (GRCm39)	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,690,165 (GRCm39)	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705 (GRCm38)	I347V	probably benign	Het
Gbp7	A	C	3: 142,252,211 (GRCm39)	D598A	probably benign	Het
Gm1110	T	A	9: 26,794,526 (GRCm39)	D500V	probably benign	Het
Gm3248	T	A	14: 5,943,928 (GRCm38)	M99L	probably benign	Het
Gpi-ps	A	T	8: 5,689,896 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,081,028 (GRCm39)	R218*	probably null	Het
Ikbip	G	A	10: 90,929,119 (GRCm39)		probably null	Het
Kcnb2	C	T	1: 15,781,033 (GRCm39)	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,869,105 (GRCm39)	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,791,219 (GRCm39)	T442A	probably benign	Het
Mgat1	T	A	11: 49,151,562 (GRCm39)	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,084,576 (GRCm39)	S334R	probably benign	Het
Notch2	A	T	3: 98,054,612 (GRCm39)	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,104,089 (GRCm39)	V520M	probably damaging	Het
Or10d1b	A	G	9: 39,613,549 (GRCm39)	V172A	probably damaging	Het
Or4p18	T	A	2: 88,232,421 (GRCm39)	T286S	possibly damaging	Het
Or5d39	A	T	2: 87,979,922 (GRCm39)	V147E	probably damaging	Het
Or6c3b	T	A	10: 129,527,887 (GRCm39)	T8S	probably benign	Het
Or8g55	A	T	9: 39,784,781 (GRCm39)	D70V	probably damaging	Het
Or8k39	A	C	2: 86,563,521 (GRCm39)	I145R	possibly damaging	Het
Osr2	A	G	15: 35,302,138 (GRCm39)	H246R	probably damaging	Het
Papolg	T	C	11: 23,829,898 (GRCm39)	R224G	probably damaging	Het
Pax6	T	A	2: 105,522,623 (GRCm39)		probably null	Het
Pcyox1	A	G	6: 86,369,250 (GRCm39)	V192A	probably benign	Het
Phf1	C	T	17: 27,154,260 (GRCm39)	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,260,129 (GRCm39)	R45W	probably damaging	Het
Psmb9	T	A	17: 34,402,653 (GRCm39)	K109M	probably damaging	Het
Ptprt	T	A	2: 161,769,593 (GRCm39)	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,580,592 (GRCm39)	I70V	probably benign	Het
Rnf213	G	A	11: 119,309,135 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,905,368 (GRCm39)	I271F	probably benign	Het
Satb2	T	A	1: 56,835,952 (GRCm39)	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,375,859 (GRCm39)	G159V	possibly damaging	Het
Slit1	T	C	19: 41,634,579 (GRCm39)	I393V	probably damaging	Het
Spata20	T	A	11: 94,374,289 (GRCm39)	D327V	probably damaging	Het
Spata31e3	G	A	13: 50,400,721 (GRCm39)	P535L	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Tbc1d32	G	T	10: 56,027,871 (GRCm39)	Q744K	possibly damaging	Het
Tmem108	G	T	9: 103,366,439 (GRCm39)	N517K	possibly damaging	Het
Trp63	T	A	16: 25,681,211 (GRCm39)	N160K	probably damaging	Het
Ttll5	T	C	12: 85,980,385 (GRCm39)	S119P	probably damaging	Het
Ubqln3	T	A	7: 103,791,523 (GRCm39)	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,649,072 (GRCm39)	R638H	probably benign	Het
Wdr3	A	G	3: 100,058,298 (GRCm39)	S436P	probably damaging	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfp976	A	T	7: 42,263,656 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,657,303 (GRCm39)	M860V	probably damaging	Het
Zscan4d	T	C	7: 10,896,296 (GRCm39)	E358G	probably benign	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
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
R9473:Fip1l1	UTSW	5	74,745,719 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07