Mutagenetix > Incidental Mutation

Incidental Mutation 'R6458:Fnbp1l'

517420

Institutional Source

Beutler Lab

Gene Symbol

Fnbp1l

Ensembl Gene

ENSMUSG00000039735

Gene Name

formin binding protein 1-like

Synonyms

TOCA1, 2610318I01Rik

MMRRC Submission

044593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122332368-122413363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122350089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 374 (I374N)

Ref Sequence

ENSEMBL: ENSMUSP00000124947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162409] [ENSMUST00000162947]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000162409

SMART Domains

Protein: ENSMUSP00000124439
Gene: ENSMUSG00000039735

Domain	Start	End	E-Value	Type
FCH	1	93	4.83e-18	SMART
coiled coil region	131	177	N/A	INTRINSIC
PDB:2KE4\|A	331	426	3e-30	PDB
low complexity region	468	477	N/A	INTRINSIC
SH3	483	540	5.27e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162884

Predicted Effect

probably damaging
Transcript: ENSMUST00000162947
AA Change: I374N

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124947
Gene: ENSMUSG00000039735
AA Change: I374N

Domain	Start	End	E-Value	Type
FCH	1	93	4.83e-18	SMART
coiled coil region	131	177	N/A	INTRINSIC
low complexity region	333	347	N/A	INTRINSIC
PDB:2KE4\|A	389	484	4e-30	PDB
low complexity region	526	535	N/A	INTRINSIC
SH3	541	598	5.27e-16	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000197259
AA Change: I219N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197342

Meta Mutation Damage Score

0.1003

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,655 (GRCm39)	V28A	possibly damaging	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Akap12	T	C	10: 4,305,148 (GRCm39)	S653P	probably damaging	Het
Anapc4	G	A	5: 53,021,895 (GRCm39)	R659H	possibly damaging	Het
Arel1	T	C	12: 84,987,159 (GRCm39)	N86D	possibly damaging	Het
Bco1	A	G	8: 117,854,245 (GRCm39)	D390G	possibly damaging	Het
Ccr1l1	A	T	9: 123,778,203 (GRCm39)	D81E	probably damaging	Het
Chd1	A	T	17: 15,950,864 (GRCm39)	N185I	probably benign	Het
Clca4b	T	G	3: 144,617,088 (GRCm39)	N854T	possibly damaging	Het
Col4a4	T	C	1: 82,433,546 (GRCm39)	T1466A	unknown	Het
Cxcr4	T	C	1: 128,516,831 (GRCm39)	I277V	probably benign	Het
Dgkq	A	G	5: 108,802,242 (GRCm39)	V441A	possibly damaging	Het
Dnah10	G	T	5: 124,886,333 (GRCm39)	L3030F	probably damaging	Het
Epg5	T	A	18: 77,991,469 (GRCm39)	D55E	probably benign	Het
Ermap	A	T	4: 119,035,337 (GRCm39)	N550K	probably damaging	Het
Gadl1	T	A	9: 115,870,070 (GRCm39)	*479K	probably null	Het
Gm5591	T	A	7: 38,218,459 (GRCm39)	T805S	probably damaging	Het
H2-T3	A	T	17: 36,497,911 (GRCm39)	M334K	possibly damaging	Het
Ihh	C	T	1: 74,985,601 (GRCm39)	A295T	probably damaging	Het
Il18r1	T	A	1: 40,530,342 (GRCm39)	Y356*	probably null	Het
Lingo3	A	G	10: 80,671,150 (GRCm39)	V260A	probably damaging	Het
Lrp2	T	G	2: 69,335,500 (GRCm39)	M1408L	probably benign	Het
Mical1	C	A	10: 41,360,731 (GRCm39)	H657N	probably benign	Het
Mpp2	T	A	11: 101,971,595 (GRCm39)	M12L	probably benign	Het
Muc16	A	T	9: 18,553,017 (GRCm39)	D4425E	probably benign	Het
Muc4	T	A	16: 32,579,694 (GRCm39)		probably null	Het
Myt1l	T	A	12: 29,945,298 (GRCm39)	F1021Y	unknown	Het
Nbas	T	C	12: 13,338,750 (GRCm39)	S197P	probably damaging	Het
Nckap1	T	C	2: 80,342,893 (GRCm39)		probably null	Het
Nek1	T	G	8: 61,553,046 (GRCm39)	V903G	probably benign	Het
Or14c43	A	G	7: 86,114,888 (GRCm39)	I90V	probably damaging	Het
Or1e18-ps1	T	G	11: 73,279,517 (GRCm39)	S112R	probably damaging	Het
Or4p22	T	A	2: 88,317,562 (GRCm39)	I162N	possibly damaging	Het
Or8b40	T	C	9: 38,027,350 (GRCm39)	V91A	possibly damaging	Het
Ppm1j	T	C	3: 104,688,560 (GRCm39)	V53A	probably benign	Het
Ralgapb	T	A	2: 158,286,540 (GRCm39)	D328E	probably damaging	Het
Rgma	T	A	7: 73,059,442 (GRCm39)	V88E	probably damaging	Het
Slc30a6	A	G	17: 74,730,108 (GRCm39)	T333A	probably damaging	Het
Spr	T	C	6: 85,114,039 (GRCm39)		probably null	Het
Srek1	A	T	13: 103,880,076 (GRCm39)	V494E	probably benign	Het
Ston1	A	T	17: 88,942,731 (GRCm39)	T46S	probably benign	Het
Stox2	T	C	8: 47,645,079 (GRCm39)	K858E	possibly damaging	Het
Thoc1	G	A	18: 9,993,333 (GRCm39)	R564Q	probably benign	Het
Thoc2l	A	T	5: 104,670,169 (GRCm39)	I1564L	probably benign	Het
Tmc5	T	A	7: 118,244,539 (GRCm39)	N472K	probably damaging	Het
Ttc41	A	G	10: 86,594,134 (GRCm39)	T856A	possibly damaging	Het
Ttn	A	T	2: 76,608,854 (GRCm39)	W17721R	probably damaging	Het
Vmn1r69	A	G	7: 10,314,365 (GRCm39)	I43T	probably benign	Het
Vmn2r56	T	A	7: 12,427,984 (GRCm39)	I761F	probably damaging	Het
Zfp109	T	C	7: 23,927,870 (GRCm39)	D521G	probably benign	Het
Zfp516	A	G	18: 83,005,475 (GRCm39)	H793R	probably benign	Het
Zfp800	A	T	6: 28,244,215 (GRCm39)	I250N	probably damaging	Het
Zpbp	T	A	11: 11,358,538 (GRCm39)	Y243F	probably damaging	Het

Other mutations in Fnbp1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Fnbp1l	APN	3	122,342,898 (GRCm39)	missense	possibly damaging	0.81
IGL01655:Fnbp1l	APN	3	122,362,398 (GRCm39)	splice site	probably null
IGL01750:Fnbp1l	APN	3	122,338,326 (GRCm39)	nonsense	probably null
IGL02040:Fnbp1l	APN	3	122,364,602 (GRCm39)	splice site	probably benign
IGL02187:Fnbp1l	APN	3	122,362,449 (GRCm39)	nonsense	probably null
IGL03334:Fnbp1l	APN	3	122,351,598 (GRCm39)	missense	probably benign	0.00
R0347:Fnbp1l	UTSW	3	122,383,824 (GRCm39)	missense	probably damaging	1.00
R0382:Fnbp1l	UTSW	3	122,364,602 (GRCm39)	splice site	probably benign
R1401:Fnbp1l	UTSW	3	122,339,955 (GRCm39)	missense	probably damaging	0.97
R1746:Fnbp1l	UTSW	3	122,350,140 (GRCm39)	missense	probably benign
R1778:Fnbp1l	UTSW	3	122,383,796 (GRCm39)	missense	possibly damaging	0.89
R1861:Fnbp1l	UTSW	3	122,354,581 (GRCm39)	missense	probably damaging	1.00
R2202:Fnbp1l	UTSW	3	122,340,611 (GRCm39)	missense	probably benign	0.00
R3407:Fnbp1l	UTSW	3	122,345,799 (GRCm39)	missense	probably damaging	1.00
R3434:Fnbp1l	UTSW	3	122,339,955 (GRCm39)	missense	probably damaging	0.97
R3947:Fnbp1l	UTSW	3	122,338,228 (GRCm39)	missense	possibly damaging	0.78
R4667:Fnbp1l	UTSW	3	122,350,216 (GRCm39)	missense	probably benign	0.04
R4771:Fnbp1l	UTSW	3	122,351,752 (GRCm39)	missense	possibly damaging	0.54
R4858:Fnbp1l	UTSW	3	122,339,964 (GRCm39)	missense	probably benign	0.30
R5163:Fnbp1l	UTSW	3	122,338,312 (GRCm39)	missense	probably benign	0.00
R6151:Fnbp1l	UTSW	3	122,364,579 (GRCm39)	missense	possibly damaging	0.89
R6153:Fnbp1l	UTSW	3	122,352,805 (GRCm39)	missense	probably benign	0.01
R6452:Fnbp1l	UTSW	3	122,338,198 (GRCm39)	missense	probably damaging	1.00
R6788:Fnbp1l	UTSW	3	122,339,956 (GRCm39)	nonsense	probably null
R7397:Fnbp1l	UTSW	3	122,338,286 (GRCm39)	missense	probably benign	0.13
R9182:Fnbp1l	UTSW	3	122,363,345 (GRCm39)	missense	probably damaging	1.00
R9525:Fnbp1l	UTSW	3	122,352,703 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TATGACTGTACCCAGCACCCTC -3'
(R):5'- AGGACAACAAACTATGCACATTTGG -3'

Sequencing Primer
(F):5'- GTACCCAGCACCCTCTTTATAATAC -3'
(R):5'- ATGCACATTTGGCTTATTGATTCC -3'

Posted On

2018-05-21