Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02187:Fnbp1l'

283690

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fnbp1l

Ensembl Gene

ENSMUSG00000039735

Gene Name

formin binding protein 1-like

Synonyms

TOCA1, 2610318I01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02187

Quality Score

Status

Chromosome

Chromosomal Location

122538719-122619715 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 122568800 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 120 (R120*)

Ref Sequence

ENSEMBL: ENSMUSP00000124947 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000162409
AA Change: R120*

SMART Domains

Protein: ENSMUSP00000124439
Gene: ENSMUSG00000039735
AA Change: R120*

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

probably null
Transcript: ENSMUST00000162947
AA Change: R120*

SMART Domains

Protein: ENSMUSP00000124947
Gene: ENSMUSG00000039735
AA Change: R120*

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

noncoding transcript
Transcript: ENSMUST00000196200

Predicted Effect

probably benign
Transcript: ENSMUST00000197259

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 113,713,194	E922D	possibly damaging	Het
Asxl3	T	A	18: 22,524,978	M2015K	probably damaging	Het
C8a	C	A	4: 104,862,736	R15L	probably damaging	Het
Catsperg2	A	G	7: 29,721,366	V47A	probably benign	Het
Ccdc84	C	T	9: 44,410,787		probably benign	Het
Cdhr2	C	T	13: 54,733,710	T1081I	possibly damaging	Het
Cep85	T	A	4: 134,131,305	M752L	possibly damaging	Het
Cxcr3	T	A	X: 101,732,877	S60C	probably damaging	Het
Cyp24a1	T	A	2: 170,494,093	N208I	probably damaging	Het
Cyp2c38	A	G	19: 39,436,205	I223T	probably benign	Het
Dennd6a	A	G	14: 26,606,926	I35V	probably benign	Het
Emb	T	G	13: 117,268,971		probably benign	Het
Fbxo3	T	C	2: 104,027,950	Y30H	probably damaging	Het
Galnt2	T	C	8: 124,305,506		probably benign	Het
Gckr	T	C	5: 31,307,424		probably benign	Het
Gpr101	A	G	X: 57,501,481	F103S	probably damaging	Het
Gprasp1	T	A	X: 135,799,163	V35E	probably damaging	Het
Ift80	C	A	3: 68,985,456	W133L	probably damaging	Het
Impdh1	C	A	6: 29,207,087		probably benign	Het
Ino80	T	C	2: 119,445,457		probably benign	Het
Kansl1	A	T	11: 104,378,831		probably null	Het
Klhl20	C	T	1: 161,109,710	V32I	probably benign	Het
Lrfn3	A	G	7: 30,355,964	S519P	probably damaging	Het
Mrpl51	A	G	6: 125,193,331	N100S	probably benign	Het
Mybpc3	T	C	2: 91,135,452	I1203T	probably benign	Het
Nbr1	A	G	11: 101,569,359	I394V	possibly damaging	Het
Nfasc	G	A	1: 132,570,481	T1155M	probably damaging	Het
Olfr854	T	A	9: 19,567,097	T96S	probably benign	Het
Pan3	T	C	5: 147,526,588	I440T	probably benign	Het
Patz1	T	C	11: 3,291,134	L174P	probably damaging	Het
Paxx	A	G	2: 25,460,656	L62P	probably damaging	Het
Plekhh1	T	C	12: 79,072,818	S972P	probably damaging	Het
Ppp1r13b	G	T	12: 111,835,038	T404K	probably damaging	Het
Prkaa2	T	C	4: 105,047,166	N238S	probably benign	Het
Prpf6	T	C	2: 181,616,016	Y94H	probably damaging	Het
Rtn4	T	C	11: 29,708,291	I815T	possibly damaging	Het
Slc44a5	A	G	3: 154,262,917	T582A	probably benign	Het
Slitrk3	A	G	3: 73,050,272	L389S	probably damaging	Het
Srp54b	T	A	12: 55,252,775	M297K	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zmym4	T	A	4: 126,870,273	I1325L	probably damaging	Het
Zswim2	C	A	2: 83,923,638	R226L	probably damaging	Het

Other mutations in Fnbp1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Fnbp1l	APN	3	122549249	missense	possibly damaging	0.81
IGL01655:Fnbp1l	APN	3	122568749	splice site	probably null
IGL01750:Fnbp1l	APN	3	122544677	nonsense	probably null
IGL02040:Fnbp1l	APN	3	122570953	splice site	probably benign
IGL03334:Fnbp1l	APN	3	122557949	missense	probably benign	0.00
R0347:Fnbp1l	UTSW	3	122590175	missense	probably damaging	1.00
R0382:Fnbp1l	UTSW	3	122570953	splice site	probably benign
R1401:Fnbp1l	UTSW	3	122546306	missense	probably damaging	0.97
R1746:Fnbp1l	UTSW	3	122556491	missense	probably benign
R1778:Fnbp1l	UTSW	3	122590147	missense	possibly damaging	0.89
R1861:Fnbp1l	UTSW	3	122560932	missense	probably damaging	1.00
R2202:Fnbp1l	UTSW	3	122546962	missense	probably benign	0.00
R3407:Fnbp1l	UTSW	3	122552150	missense	probably damaging	1.00
R3434:Fnbp1l	UTSW	3	122546306	missense	probably damaging	0.97
R3947:Fnbp1l	UTSW	3	122544579	missense	possibly damaging	0.78
R4667:Fnbp1l	UTSW	3	122556567	missense	probably benign	0.04
R4771:Fnbp1l	UTSW	3	122558103	missense	possibly damaging	0.54
R4858:Fnbp1l	UTSW	3	122546315	missense	probably benign	0.30
R5163:Fnbp1l	UTSW	3	122544663	missense	probably benign	0.00
R6151:Fnbp1l	UTSW	3	122570930	missense	possibly damaging	0.89
R6153:Fnbp1l	UTSW	3	122559156	missense	probably benign	0.01
R6452:Fnbp1l	UTSW	3	122544549	missense	probably damaging	1.00
R6458:Fnbp1l	UTSW	3	122556440	missense	probably damaging	0.96
R6788:Fnbp1l	UTSW	3	122546307	nonsense	probably null
R7397:Fnbp1l	UTSW	3	122544637	missense	probably benign	0.13

Posted On

2015-04-16