Mutagenetix > Incidental Mutation

Incidental Mutation 'R1778:Fnbp1l'

197209

Institutional Source

Beutler Lab

Gene Symbol

Fnbp1l

Ensembl Gene

ENSMUSG00000039735

Gene Name

formin binding protein 1-like

Synonyms

TOCA1, 2610318I01Rik

MMRRC Submission

039809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122538719-122619715 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122590147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 41 (N41D)

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
AA Change: N41D

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124439
Gene: ENSMUSG00000039735
AA Change: N41D

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

possibly damaging
Transcript: ENSMUST00000162947
AA Change: N41D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124947
Gene: ENSMUSG00000039735
AA Change: N41D

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

Meta Mutation Damage Score

0.1408

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

98% (107/109)

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	G	T	10: 77,982,944 (GRCm38)	A150S	probably benign	Het
4930432E11Rik	T	C	7: 29,560,706 (GRCm38)		noncoding transcript	Het
4930568D16Rik	A	G	2: 35,354,983 (GRCm38)	M119T	probably damaging	Het
Aadacl2	A	G	3: 60,017,450 (GRCm38)		probably null	Het
Abca9	C	T	11: 110,130,716 (GRCm38)	W1056*	probably null	Het
Adam20	A	C	8: 40,796,661 (GRCm38)	T603P	possibly damaging	Het
Adgrl1	T	C	8: 83,930,037 (GRCm38)	L323P	probably damaging	Het
Afap1l2	C	T	19: 56,916,206 (GRCm38)	E628K	possibly damaging	Het
Ahctf1	A	T	1: 179,753,015 (GRCm38)	L1874Q	possibly damaging	Het
Ak8	A	G	2: 28,712,321 (GRCm38)	E89G	probably benign	Het
Aldh16a1	G	A	7: 45,147,308 (GRCm38)	R256C	probably damaging	Het
Anxa5	G	A	3: 36,465,331 (GRCm38)	T3M	probably damaging	Het
Arhgef16	T	C	4: 154,287,986 (GRCm38)	K210E	probably benign	Het
Armc4	A	T	18: 7,127,388 (GRCm38)	C942S	probably damaging	Het
Baz2b	T	C	2: 60,006,136 (GRCm38)	T18A	unknown	Het
BC037034	T	C	5: 138,262,477 (GRCm38)		probably null	Het
Bub1	A	C	2: 127,803,122 (GRCm38)	I960M	possibly damaging	Het
Cbln2	G	T	18: 86,713,147 (GRCm38)	D27Y	probably benign	Het
Ces2h	C	A	8: 105,014,607 (GRCm38)	P77Q	possibly damaging	Het
Chga	T	A	12: 102,561,700 (GRCm38)	M150K	probably benign	Het
Chmp3	A	G	6: 71,577,807 (GRCm38)	E162G	probably benign	Het
Clip3	A	G	7: 30,297,436 (GRCm38)	N161S	probably damaging	Het
Col12a1	T	A	9: 79,604,585 (GRCm38)		probably benign	Het
Cuedc2	C	T	19: 46,331,640 (GRCm38)	G105D	probably benign	Het
Cyp2j7	A	C	4: 96,199,390 (GRCm38)	F428V	probably damaging	Het
Ddx60	A	G	8: 61,974,176 (GRCm38)	I762V	possibly damaging	Het
Def6	G	A	17: 28,220,186 (GRCm38)	R257Q	probably benign	Het
Dkkl1	A	T	7: 45,211,395 (GRCm38)		probably null	Het
Dnah3	A	G	7: 120,078,402 (GRCm38)	L433P	probably damaging	Het
Eif2s3y	C	T	Y: 1,011,287 (GRCm38)	R33C	probably benign	Het
Elavl2	T	A	4: 91,253,478 (GRCm38)	Y269F	probably damaging	Het
Esco2	A	G	14: 65,831,262 (GRCm38)	S200P	possibly damaging	Het
Fam213b	A	T	4: 154,897,357 (GRCm38)	V151D	probably damaging	Het
Fcrl1	T	A	3: 87,385,319 (GRCm38)		probably benign	Het
Fhod1	C	A	8: 105,329,677 (GRCm38)	D1135Y	probably damaging	Het
Folh1	A	T	7: 86,761,699 (GRCm38)		probably null	Het
Fpr-rs7	T	C	17: 20,114,015 (GRCm38)	D71G	probably damaging	Het
Gm10271	A	G	10: 116,961,939 (GRCm38)		probably benign	Het
Gm4841	A	T	18: 60,270,948 (GRCm38)	Y24*	probably null	Het
Gm9825	A	T	6: 7,983,124 (GRCm38)		noncoding transcript	Het
Greb1	G	A	12: 16,690,894 (GRCm38)	R1396C	probably benign	Het
Hectd1	C	T	12: 51,753,807 (GRCm38)	C2076Y	probably damaging	Het
Hnrnpu	A	G	1: 178,325,241 (GRCm38)		probably benign	Het
Ice2	T	C	9: 69,415,648 (GRCm38)	I475T	probably benign	Het
Ifit1bl1	T	A	19: 34,594,193 (GRCm38)	Q288L	probably damaging	Het
Ik	T	C	18: 36,756,818 (GRCm38)		probably benign	Het
Kidins220	C	T	12: 25,013,446 (GRCm38)		probably benign	Het
Kmt2c	T	C	5: 25,372,974 (GRCm38)	D768G	probably benign	Het
Kmt2e	A	G	5: 23,492,364 (GRCm38)	T87A	probably damaging	Het
Lama5	G	A	2: 180,195,481 (GRCm38)		probably benign	Het
Lmbr1l	A	G	15: 98,912,476 (GRCm38)	S85P	probably damaging	Het
Lrig2	A	G	3: 104,467,366 (GRCm38)		probably benign	Het
Lrig3	A	G	10: 126,010,075 (GRCm38)	D791G	probably damaging	Het
Lrrc2	G	A	9: 110,980,840 (GRCm38)	V315M	probably benign	Het
Lrrc4b	A	G	7: 44,462,399 (GRCm38)	D565G	probably benign	Het
Mpped1	C	T	15: 83,791,990 (GRCm38)		probably benign	Het
Msrb2	T	A	2: 19,383,303 (GRCm38)	D87E	probably benign	Het
Muc20	T	C	16: 32,794,141 (GRCm38)	T289A	possibly damaging	Het
Myo15	C	A	11: 60,478,412 (GRCm38)	P666Q	possibly damaging	Het
Nfat5	C	T	8: 107,361,789 (GRCm38)	P579L	probably damaging	Het
Nipbl	A	C	15: 8,319,488 (GRCm38)	M1920R	probably damaging	Het
Nuak1	T	C	10: 84,374,874 (GRCm38)		probably null	Het
Nup210l	A	G	3: 90,189,486 (GRCm38)	E1334G	probably damaging	Het
Olfr12	G	A	1: 92,620,620 (GRCm38)	G238E	possibly damaging	Het
Olfr1410	A	T	1: 92,608,109 (GRCm38)	N91Y	possibly damaging	Het
Olfr262	T	A	19: 12,241,455 (GRCm38)	I69F	probably benign	Het
Olfr675	A	T	7: 105,024,163 (GRCm38)	N272K	probably benign	Het
Olfr804	T	C	10: 129,705,705 (GRCm38)	Y276H	probably benign	Het
P4ha3	A	T	7: 100,300,691 (GRCm38)		probably null	Het
Pbld2	C	T	10: 63,054,371 (GRCm38)	A186V	probably benign	Het
Pcdh18	A	T	3: 49,755,634 (GRCm38)	Y411N	probably benign	Het
Pgf	A	G	12: 85,171,767 (GRCm38)	S70P	probably benign	Het
Phrf1	T	A	7: 141,232,456 (GRCm38)	D44E	probably benign	Het
Pla2g4a	A	G	1: 149,902,445 (GRCm38)		probably benign	Het
Plce1	A	G	19: 38,780,790 (GRCm38)		probably benign	Het
Plxna2	A	G	1: 194,810,970 (GRCm38)	N1851S	probably benign	Het
Prl7a2	G	A	13: 27,659,271 (GRCm38)	T183I	probably damaging	Het
Ptger4	A	T	15: 5,235,095 (GRCm38)	L335H	probably damaging	Het
Ptgr1	A	G	4: 58,984,865 (GRCm38)		probably benign	Het
Rdh7	A	G	10: 127,884,721 (GRCm38)	S261P	probably benign	Het
Reg3a	A	G	6: 78,383,286 (GRCm38)	T150A	probably benign	Het
Rnf111	A	G	9: 70,476,112 (GRCm38)	S180P	probably benign	Het
Rnf17	A	G	14: 56,522,399 (GRCm38)	M1554V	probably damaging	Het
Rnf215	T	A	11: 4,135,873 (GRCm38)	Y117*	probably null	Het
Rogdi	T	C	16: 5,010,505 (GRCm38)	T165A	probably benign	Het
Rpe65	A	G	3: 159,622,848 (GRCm38)	Y431C	probably damaging	Het
Scube1	A	G	15: 83,610,204 (GRCm38)	F844S	probably damaging	Het
Sdr16c6	T	A	4: 4,058,814 (GRCm38)	E257D	probably benign	Het
Sim1	C	A	10: 50,981,553 (GRCm38)	C466*	probably null	Het
Spi1	T	A	2: 91,099,522 (GRCm38)	H46Q	probably damaging	Het
Sumf2	C	A	5: 129,845,068 (GRCm38)		probably benign	Het
Tbcb	A	G	7: 30,231,612 (GRCm38)	Y28H	probably benign	Het
Tecta	C	T	9: 42,343,631 (GRCm38)	C1752Y	probably damaging	Het
Tep1	T	C	14: 50,829,622 (GRCm38)		probably benign	Het
Tmem245	A	T	4: 56,903,968 (GRCm38)	W591R	probably damaging	Het
Tnxb	A	G	17: 34,683,574 (GRCm38)	I1134V	probably benign	Het
Trim13	G	T	14: 61,605,619 (GRCm38)	A362S	probably benign	Het
Trim47	T	A	11: 116,109,820 (GRCm38)	D134V	probably damaging	Het
Ttc26	T	A	6: 38,409,476 (GRCm38)	D377E	possibly damaging	Het
Utrn	C	A	10: 12,436,364 (GRCm38)	D616Y	probably damaging	Het
Vnn1	G	T	10: 23,899,517 (GRCm38)	A222S	possibly damaging	Het
Wdr17	A	G	8: 54,690,214 (GRCm38)	W110R	probably damaging	Het
Wwp1	G	T	4: 19,627,892 (GRCm38)	Y700*	probably null	Het
Zbtb21	T	C	16: 97,950,585 (GRCm38)	S661G	probably benign	Het
Zfp955b	A	G	17: 33,302,814 (GRCm38)	K419R	probably benign	Het

Other mutations in Fnbp1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Fnbp1l	APN	3	122,549,249 (GRCm38)	missense	possibly damaging	0.81
IGL01655:Fnbp1l	APN	3	122,568,749 (GRCm38)	splice site	probably null
IGL01750:Fnbp1l	APN	3	122,544,677 (GRCm38)	nonsense	probably null
IGL02040:Fnbp1l	APN	3	122,570,953 (GRCm38)	splice site	probably benign
IGL02187:Fnbp1l	APN	3	122,568,800 (GRCm38)	nonsense	probably null
IGL03334:Fnbp1l	APN	3	122,557,949 (GRCm38)	missense	probably benign	0.00
R0347:Fnbp1l	UTSW	3	122,590,175 (GRCm38)	missense	probably damaging	1.00
R0382:Fnbp1l	UTSW	3	122,570,953 (GRCm38)	splice site	probably benign
R1401:Fnbp1l	UTSW	3	122,546,306 (GRCm38)	missense	probably damaging	0.97
R1746:Fnbp1l	UTSW	3	122,556,491 (GRCm38)	missense	probably benign
R1861:Fnbp1l	UTSW	3	122,560,932 (GRCm38)	missense	probably damaging	1.00
R2202:Fnbp1l	UTSW	3	122,546,962 (GRCm38)	missense	probably benign	0.00
R3407:Fnbp1l	UTSW	3	122,552,150 (GRCm38)	missense	probably damaging	1.00
R3434:Fnbp1l	UTSW	3	122,546,306 (GRCm38)	missense	probably damaging	0.97
R3947:Fnbp1l	UTSW	3	122,544,579 (GRCm38)	missense	possibly damaging	0.78
R4667:Fnbp1l	UTSW	3	122,556,567 (GRCm38)	missense	probably benign	0.04
R4771:Fnbp1l	UTSW	3	122,558,103 (GRCm38)	missense	possibly damaging	0.54
R4858:Fnbp1l	UTSW	3	122,546,315 (GRCm38)	missense	probably benign	0.30
R5163:Fnbp1l	UTSW	3	122,544,663 (GRCm38)	missense	probably benign	0.00
R6151:Fnbp1l	UTSW	3	122,570,930 (GRCm38)	missense	possibly damaging	0.89
R6153:Fnbp1l	UTSW	3	122,559,156 (GRCm38)	missense	probably benign	0.01
R6452:Fnbp1l	UTSW	3	122,544,549 (GRCm38)	missense	probably damaging	1.00
R6458:Fnbp1l	UTSW	3	122,556,440 (GRCm38)	missense	probably damaging	0.96
R6788:Fnbp1l	UTSW	3	122,546,307 (GRCm38)	nonsense	probably null
R7397:Fnbp1l	UTSW	3	122,544,637 (GRCm38)	missense	probably benign	0.13
R9182:Fnbp1l	UTSW	3	122,569,696 (GRCm38)	missense	probably damaging	1.00
R9525:Fnbp1l	UTSW	3	122,559,054 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCACAGCACGAGGCAATGGTTATC -3'
(R):5'- AGGGACCAGGGCTTCCCTTTATAC -3'

Sequencing Primer
(F):5'- GGTTATCTAACTTAACCATCAGTCC -3'
(R):5'- AGGGCTTCCCTTTATACTTTACAC -3'

Posted On

2014-05-23