Mutagenetix > Incidental Mutation

Incidental Mutation 'R3434:Fnbp1l'

266331

Institutional Source

Beutler Lab

Gene Symbol

Fnbp1l

Ensembl Gene

ENSMUSG00000039735

Gene Name

formin binding protein 1-like

Synonyms

TOCA1, 2610318I01Rik

MMRRC Submission

040652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122332368-122413363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122339955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 499 (R499Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124947 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162409
AA Change: R441Q

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124439
Gene: ENSMUSG00000039735
AA Change: R441Q

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 damaging
Transcript: ENSMUST00000162947
AA Change: R499Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124947
Gene: ENSMUSG00000039735
AA Change: R499Q

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: ENSMUST00000196051

Predicted Effect

unknown
Transcript: ENSMUST00000197259
AA Change: R344Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197342

Meta Mutation Damage Score

0.0856

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,508,511 (GRCm39)	A1008V	probably damaging	Het
Adora3	A	G	3: 105,812,231 (GRCm39)	K39R	probably benign	Het
Ankib1	A	G	5: 3,742,760 (GRCm39)	V1085A	probably damaging	Het
Atp7a	G	A	X: 105,138,463 (GRCm39)	R563K	probably benign	Het
Azin1	T	C	15: 38,493,820 (GRCm39)	I268V	probably benign	Het
Carm1	T	C	9: 21,480,769 (GRCm39)	F81S	probably damaging	Het
Ccnjl	A	G	11: 43,470,688 (GRCm39)	Y152C	probably damaging	Het
Chrna3	T	A	9: 54,931,610 (GRCm39)	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,514,522 (GRCm39)		probably benign	Het
Clstn2	T	A	9: 97,336,768 (GRCm39)	D903V	probably benign	Het
Dpysl3	C	T	18: 43,494,126 (GRCm39)	V70I	probably benign	Het
Drg2	A	T	11: 60,352,218 (GRCm39)	K180*	probably null	Het
Dync2h1	A	C	9: 7,011,236 (GRCm39)	H3659Q	probably benign	Het
Dysf	A	T	6: 84,047,870 (GRCm39)	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865 (GRCm39)	N533D	probably benign	Het
Fam47e	T	A	5: 92,733,221 (GRCm39)	V152D	probably damaging	Het
Fasn	G	A	11: 120,713,599 (GRCm39)	A24V	probably damaging	Het
Fhl4	T	C	10: 84,934,308 (GRCm39)	T158A	probably benign	Het
Hdlbp	A	T	1: 93,355,883 (GRCm39)	M358K	probably benign	Het
Ift74	A	G	4: 94,510,089 (GRCm39)		probably null	Het
Lhx4	A	G	1: 155,578,147 (GRCm39)	Y332H	probably damaging	Het
Mast2	A	T	4: 116,165,292 (GRCm39)	S1314T	probably benign	Het
Mast4	A	G	13: 102,923,887 (GRCm39)	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726 (GRCm39)		probably null	Het
Mrps23	A	G	11: 88,100,940 (GRCm39)	K44E	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mup6	G	T	4: 60,004,116 (GRCm39)		probably null	Het
Notch3	A	T	17: 32,377,592 (GRCm39)	D161E	possibly damaging	Het
Or2ag13	A	T	7: 106,472,976 (GRCm39)	Y159N	probably benign	Het
Or4a67	T	C	2: 88,598,413 (GRCm39)	D82G	probably damaging	Het
Or5w11	T	C	2: 87,459,418 (GRCm39)	F204L	probably benign	Het
P2rx4	T	A	5: 122,863,133 (GRCm39)	I202K	probably damaging	Het
Phykpl	A	G	11: 51,489,482 (GRCm39)	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,162,234 (GRCm39)	A1047T	probably damaging	Het
Ppat	A	G	5: 77,065,912 (GRCm39)	I402T	probably damaging	Het
Rpgr	A	G	X: 10,042,841 (GRCm39)	S656P	probably benign	Het
Rsbn1l	T	C	5: 21,110,928 (GRCm39)		probably benign	Het
Sacs	A	G	14: 61,449,752 (GRCm39)	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,505,847 (GRCm39)	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,274,432 (GRCm39)	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,618,870 (GRCm39)	T277N	possibly damaging	Het
Slc35a5	A	G	16: 44,964,396 (GRCm39)	I279T	probably benign	Het
Slc39a10	T	C	1: 46,874,877 (GRCm39)	T142A	probably benign	Het
Tle3	T	A	9: 61,321,376 (GRCm39)		probably null	Het
Tmem117	T	C	15: 94,992,573 (GRCm39)	I411T	probably damaging	Het
Ttn	T	C	2: 76,698,721 (GRCm39)	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,708,381 (GRCm39)		probably null	Het
Ush2a	C	T	1: 188,465,955 (GRCm39)	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,990,267 (GRCm39)	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,330,370 (GRCm39)		probably benign	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
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
R6458:Fnbp1l	UTSW	3	122,350,089 (GRCm39)	missense	probably damaging	0.96
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'- ACCTCAGTGGGATCTCTCC -3'
(R):5'- AGAATCATAAAGTCTCTCAAAGTGC -3'

Sequencing Primer
(F):5'- CTTCCTAAGCCTGCAGGG -3'
(R):5'- AGTGCATTTTAATTCAGGGTTCC -3'

Posted On

2015-02-18