Mutagenetix > Incidental Mutations

Incidental Mutation 'R0382:Fnbp1l'

31001

Institutional Source

Beutler Lab

Gene Symbol

Fnbp1l

Ensembl Gene

ENSMUSG00000039735

Gene Name

formin binding protein 1-like

Synonyms

TOCA1, 2610318I01Rik

MMRRC Submission

038588-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122538719-122619715 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 122570953 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124947 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000162947

SMART Domains

Protein: ENSMUSP00000124947
Gene: ENSMUSG00000039735

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: ENSMUST00000195964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196200

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,946,919	Q266L	probably benign	Het
Abca13	T	C	11: 9,636,650		probably benign	Het
Adap2	T	C	11: 80,178,385		probably benign	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Brinp1	T	C	4: 68,762,308	R662G	possibly damaging	Het
Celsr3	C	A	9: 108,829,218	P967T	probably damaging	Het
Ces1b	T	C	8: 93,076,052		probably benign	Het
Ckm	T	C	7: 19,421,384	*382Q	probably null	Het
Clec14a	A	G	12: 58,268,617	V73A	probably damaging	Het
Cmya5	A	T	13: 93,092,748	V1944E	probably benign	Het
Col6a6	T	A	9: 105,755,555	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,343	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672	N161S	probably damaging	Het
Dnah17	T	C	11: 118,128,996	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,901,769	V388A	possibly damaging	Het
Fat3	A	G	9: 15,959,756	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,481,060	*401R	probably null	Het
Fbxo5	G	T	10: 5,801,176	Y270*	probably null	Het
Fstl3	T	C	10: 79,777,307	S3P	probably benign	Het
Gpatch1	T	C	7: 35,301,655	D309G	probably damaging	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Klk6	A	G	7: 43,829,245	D192G	probably benign	Het
Lrp6	A	G	6: 134,467,668	S1080P	probably damaging	Het
Lztfl1	T	C	9: 123,707,906		probably null	Het
Mov10l1	A	G	15: 88,985,593	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,906,913	R62H	probably damaging	Het
Obscn	T	C	11: 59,040,306	T5835A	probably damaging	Het
Olfr1052	A	G	2: 86,298,593	Y259C	probably damaging	Het
Olfr1183	A	T	2: 88,461,725	R147S	possibly damaging	Het
Olfr1354	T	A	10: 78,917,126	Y95*	probably null	Het
Olfr792	T	C	10: 129,541,014	I159T	probably benign	Het
P2rx2	T	A	5: 110,341,179	E289V	probably benign	Het
Patl1	T	A	19: 11,925,232		probably null	Het
Ptprf	A	G	4: 118,223,394		probably benign	Het
Qrfpr	C	T	3: 36,180,969	C253Y	possibly damaging	Het
Rad21l	A	T	2: 151,645,443	D540E	probably damaging	Het
Rbm45	T	A	2: 76,370,211	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,125,899		probably benign	Het
Sgsm3	G	A	15: 81,008,314	W280*	probably null	Het
Slc9a9	A	T	9: 94,685,217	H113L	probably benign	Het
Slc9b2	G	T	3: 135,318,422	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 83,029,534		noncoding transcript	Het
Slfn8	T	A	11: 83,004,556	I475F	probably damaging	Het
Stox2	A	G	8: 47,203,284		probably benign	Het
Strbp	A	T	2: 37,600,826	N472K	probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tmem39a	A	G	16: 38,591,398		probably benign	Het
Trpc4ap	A	G	2: 155,636,230	L664P	probably damaging	Het
Uap1	T	A	1: 170,161,482	M124L	probably benign	Het
Usp48	A	G	4: 137,621,218	N536S	probably benign	Het
Usp50	T	A	2: 126,777,928	I155F	probably damaging	Het
Utp4	T	C	8: 106,922,935	I672T	probably benign	Het
Vmn1r94	A	T	7: 20,167,653	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,483,099	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,847,597	Y395C	probably damaging	Het
Vps41	C	A	13: 18,827,727	H335N	probably benign	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
IGL02187:Fnbp1l	APN	3	122568800	nonsense	probably null
IGL03334:Fnbp1l	APN	3	122557949	missense	probably benign	0.00
R0347:Fnbp1l	UTSW	3	122590175	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CAAGGCAAGCCAAATCCTGGTCTAA -3'
(R):5'- CCCCACACCTTAAAATGGGGAGTG -3'

Sequencing Primer
(F):5'- AGCCAAATCCTGGTCTAAATTTTAC -3'
(R):5'- TGATTTCCATAGAGGAGAAGCAC -3'

Posted On

2013-04-24