Mutagenetix > Incidental Mutation

Incidental Mutation 'R6724:Fip1l1'

529751

Institutional Source

Beutler Lab

Gene Symbol

Fip1l1

Ensembl Gene

ENSMUSG00000029227

Gene Name

FIP1 like 1 (S. cerevisiae)

Synonyms

1300019H17Rik, Rje

MMRRC Submission

044842-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R6724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74535449-74598800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74591774 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 378 (V378G)

Ref Sequence

ENSEMBL: ENSMUSP00000079059 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000080164
AA Change: V378G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: V378G

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 damaging
Transcript: ENSMUST00000113534
AA Change: V428G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
AA Change: V428G

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 damaging
Transcript: ENSMUST00000113535
AA Change: V369G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
AA Change: V369G

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: V414G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: V414G

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: V422G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
AA Change: V422G

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: ENSMUST00000125129

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

noncoding transcript
Transcript: ENSMUST00000200787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139697

Meta Mutation Damage Score

0.0796

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	A	16: 85,868,557	T619S	probably benign	Het
Adgra2	G	A	8: 27,114,182	A467T	possibly damaging	Het
AF366264	A	T	8: 13,837,083	L336Q	probably damaging	Het
Alox5	A	T	6: 116,414,548	I416N	probably damaging	Het
Blmh	A	G	11: 76,971,907		probably null	Het
Cftr	T	A	6: 18,255,974	Y567*	probably null	Het
Cnr1	T	A	4: 33,944,728	M372K	possibly damaging	Het
Col6a3	T	C	1: 90,779,152	T2080A	unknown	Het
Crybg3	A	T	16: 59,544,138	C2374S	probably benign	Het
Csmd2	A	G	4: 128,563,371	I3544V	probably damaging	Het
Dnah12	A	T	14: 26,796,223	D1809V	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dnajb12	A	G	10: 59,892,780	D190G	possibly damaging	Het
Dtnb	T	A	12: 3,686,817	V319D	probably damaging	Het
Ercc6	A	T	14: 32,566,331	E820V	probably benign	Het
Gabrg1	T	A	5: 70,754,209	Y358F	possibly damaging	Het
Gcn1l1	T	G	5: 115,609,158		probably null	Het
Gm11011	T	A	2: 169,587,482	T28S	unknown	Het
Gm13762	T	G	2: 88,973,268	I208L	probably benign	Het
Gm14025	A	C	2: 129,038,056	V650G	probably benign	Het
Gm4027	A	T	12: 87,621,984	I129F	unknown	Het
Guf1	C	A	5: 69,566,393	N438K	probably damaging	Het
Hoxa7	T	C	6: 52,215,739	E223G	probably benign	Het
Hspg2	G	A	4: 137,515,307	G611E	probably damaging	Het
Ipo8	A	T	6: 148,809,975		probably null	Het
Isl2	A	G	9: 55,541,288	D3G	possibly damaging	Het
Kcnb2	A	G	1: 15,710,440	Y512C	probably damaging	Het
Kifc1	T	A	17: 33,886,733		probably null	Het
Klhdc10	A	G	6: 30,446,641	D183G	probably damaging	Het
Klra5	T	A	6: 129,906,680	K71N	probably benign	Het
Lrp6	T	C	6: 134,486,541	H559R	possibly damaging	Het
Maml3	T	C	3: 51,855,875	N556S	probably damaging	Het
Man2a1	A	G	17: 64,731,269	I83V	possibly damaging	Het
Mrgpra9	A	G	7: 47,235,038	S293P	probably damaging	Het
Nalcn	A	G	14: 123,298,067	S1282P	probably damaging	Het
Npepps	A	T	11: 97,206,002		probably benign	Het
Olfr1037	A	T	2: 86,085,357	V140E	possibly damaging	Het
Olfr1154	T	G	2: 87,903,602	S25R	probably benign	Het
Olfr1245	A	T	2: 89,574,965	F254I	probably benign	Het
Pkn3	C	A	2: 30,090,550	R818S	possibly damaging	Het
Plekha3	T	A	2: 76,687,401	H190Q	probably damaging	Het
Ppp2r3c	A	T	12: 55,288,496	S261T	probably benign	Het
Ptprj	T	C	2: 90,450,851	D1015G	probably benign	Het
Pus10	T	C	11: 23,729,037	M503T	possibly damaging	Het
Pvr	T	C	7: 19,918,679	R104G	possibly damaging	Het
Rubcnl	A	G	14: 75,052,010	R653G	probably benign	Het
Serpina1a	G	T	12: 103,860,420		probably benign	Het
Shank3	G	A	15: 89,532,453	R265Q	probably damaging	Het
Slc22a22	C	T	15: 57,247,532	R433H	probably damaging	Het
Slc22a26	A	G	19: 7,802,361	I30T	probably benign	Het
Spz1	A	T	13: 92,575,484	N161K	possibly damaging	Het
Tacc2	A	G	7: 130,728,762	R259G	probably damaging	Het
Top1	G	A	2: 160,712,696	V456M	probably damaging	Het
Tpcn2	G	A	7: 145,256,520	A649V	probably benign	Het
Trank1	C	G	9: 111,365,916	R1003G	probably damaging	Het
Tril	T	A	6: 53,819,574	H221L	possibly damaging	Het
Unc79	C	T	12: 103,104,861	T1305I	probably damaging	Het
Unc80	C	T	1: 66,683,191	A2988V	possibly damaging	Het
Vmn1r81	A	T	7: 12,260,672	M3K	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het
Vwa3b	G	A	1: 37,045,031	R95Q	probably damaging	Het
Wdr6	G	A	9: 108,574,894	H597Y	probably benign	Het
Yme1l1	C	T	2: 23,194,762	T624I	probably damaging	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
R6556:Fip1l1	UTSW	5	74547177	critical splice donor site	probably null
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
R9473:Fip1l1	UTSW	5	74585058	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGGTGTTTTATATCATGTAGTC -3'
(R):5'- CCTGTTGAAAACACTTGGGG -3'

Sequencing Primer
(F):5'- ACACATACACGGGTGCTTTG -3'
(R):5'- CTGTGGTCGCGCTCTCG -3'

Posted On

2018-08-01