Mutagenetix > Incidental Mutation

Incidental Mutation 'R4707:Fmnl3'

355375

Institutional Source

Beutler Lab

Gene Symbol

Fmnl3

Ensembl Gene

ENSMUSG00000023008

Gene Name

formin-like 3

Synonyms

2700073B04Rik, Wbp3

MMRRC Submission

041955-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.706) question?

Stock #

R4707 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99215106-99268363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99221362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 481 (M481T)

Ref Sequence

ENSEMBL: ENSMUSP00000113094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081224] [ENSMUST00000088233] [ENSMUST00000120633]

AlphaFold

Q6ZPF4

Predicted Effect

probably benign
Transcript: ENSMUST00000081224
AA Change: M430T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: M430T

Domain	Start	End	E-Value	Type
Drf_GBD	26	227	2.99e-88	SMART
Drf_FH3	230	421	6.1e-71	SMART
low complexity region	448	497	N/A	INTRINSIC
FH2	510	944	9.85e-141	SMART
low complexity region	960	975	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088233
AA Change: M481T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: M481T

Domain	Start	End	E-Value	Type
Drf_GBD	26	278	3.91e-92	SMART
Drf_FH3	281	472	6.1e-71	SMART
low complexity region	499	548	N/A	INTRINSIC
FH2	561	995	9.85e-141	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120633
AA Change: M481T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: M481T

Domain	Start	End	E-Value	Type
Drf_GBD	26	278	3.91e-92	SMART
Drf_FH3	281	472	6.1e-71	SMART
low complexity region	499	548	N/A	INTRINSIC
FH2	561	995	9.85e-141	SMART
low complexity region	1011	1026	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140368

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,224,544 (GRCm39)	K450R	probably damaging	Het
Abcd2	T	C	15: 91,043,385 (GRCm39)	D601G	probably benign	Het
Abcf3	A	G	16: 20,367,808 (GRCm39)	K56E	possibly damaging	Het
Acaca	T	C	11: 84,203,680 (GRCm39)	V1477A	probably damaging	Het
Adamts20	G	A	15: 94,231,528 (GRCm39)	P887L	possibly damaging	Het
Ahnak	T	G	19: 8,994,099 (GRCm39)	S5128A	probably benign	Het
Ahsa2	C	A	11: 23,443,162 (GRCm39)	V197F	probably benign	Het
Ak9	C	A	10: 41,221,456 (GRCm39)	H402N	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Ankrd16	A	G	2: 11,783,608 (GRCm39)	D70G	probably damaging	Het
Apob	A	T	12: 8,056,205 (GRCm39)	K1562N	probably damaging	Het
Arfgap2	C	A	2: 91,100,316 (GRCm39)	S250R	probably damaging	Het
Arhgef10l	C	T	4: 140,264,194 (GRCm39)	M671I	possibly damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
B4galnt2	C	T	11: 95,766,923 (GRCm39)		probably null	Het
C8a	A	G	4: 104,713,618 (GRCm39)	Y171H	probably damaging	Het
Cacnb4	A	G	2: 52,364,927 (GRCm39)	V112A	probably benign	Het
Capn9	G	T	8: 125,340,195 (GRCm39)	C566F	possibly damaging	Het
Ccdc88a	T	A	11: 29,397,956 (GRCm39)	S230T	probably benign	Het
Cd300c2	A	T	11: 114,887,811 (GRCm39)	F197Y	probably benign	Het
Chd5	A	G	4: 152,445,039 (GRCm39)	Y340C	probably damaging	Het
Chrd	A	T	16: 20,557,558 (GRCm39)	I726F	possibly damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clasp1	T	A	1: 118,470,927 (GRCm39)	Y197*	probably null	Het
Cyp2c69	C	G	19: 39,837,852 (GRCm39)	G410A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dapp1	T	C	3: 137,638,928 (GRCm39)	D225G	probably benign	Het
Dnah5	A	T	15: 28,372,521 (GRCm39)	D2924V	probably damaging	Het
Efcab12	A	T	6: 115,791,510 (GRCm39)	L554Q	possibly damaging	Het
Emsy	T	C	7: 98,246,311 (GRCm39)	T228A	possibly damaging	Het
Evc2	G	A	5: 37,579,204 (GRCm39)	V1106I	probably benign	Het
Exoc8	G	T	8: 125,624,209 (GRCm39)	Q53K	possibly damaging	Het
Fbn2	A	T	18: 58,189,344 (GRCm39)	V1594D	probably damaging	Het
Fer1l4	T	C	2: 155,887,543 (GRCm39)	Y551C	possibly damaging	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Fras1	A	G	5: 96,883,097 (GRCm39)	N2543S	probably damaging	Het
Fsd2	T	C	7: 81,209,428 (GRCm39)	D138G	probably damaging	Het
Gda	C	T	19: 21,405,992 (GRCm39)	V5I	probably benign	Het
Glt8d2	A	T	10: 82,496,583 (GRCm39)	D158E	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Greb1l	A	G	18: 10,532,922 (GRCm39)	M830V	probably benign	Het
Hnrnpul1	A	C	7: 25,426,258 (GRCm39)	V531G	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Igsf3	G	C	3: 101,365,410 (GRCm39)	R1127P	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Islr	T	C	9: 58,064,970 (GRCm39)	D179G	possibly damaging	Het
Jcad	G	T	18: 4,649,338 (GRCm39)	E70*	probably null	Het
Kcnd2	T	C	6: 21,723,211 (GRCm39)	I467T	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Lrrtm3	T	A	10: 63,923,781 (GRCm39)	H462L	probably benign	Het
Mbd5	T	C	2: 49,140,168 (GRCm39)	L44S	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Mgam	A	T	6: 40,691,566 (GRCm39)		probably null	Het
Mipep	T	A	14: 61,109,552 (GRCm39)	I643N	probably damaging	Het
Mmrn1	A	T	6: 60,965,457 (GRCm39)	I1162L	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,861,600 (GRCm39)	C1354Y	probably damaging	Het
Nbeal2	A	T	9: 110,461,123 (GRCm39)	S1647T	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nedd9	A	T	13: 41,492,051 (GRCm39)		probably null	Het
Nr4a2	T	A	2: 57,002,105 (GRCm39)	H116L	probably benign	Het
Nwd2	A	G	5: 63,951,665 (GRCm39)	Y232C	probably damaging	Het
Odf4	A	G	11: 68,817,514 (GRCm39)	L58P	probably damaging	Het
Or2a20	T	A	6: 43,193,883 (GRCm39)	V12D	probably benign	Het
Or4a27	T	A	2: 88,559,056 (GRCm39)	M296L	possibly damaging	Het
Or4c116	A	T	2: 88,942,576 (GRCm39)	F93L	probably damaging	Het
Or4g17	T	A	2: 111,209,990 (GRCm39)	L215H	probably damaging	Het
Or7e165	C	T	9: 19,694,596 (GRCm39)	H18Y	probably damaging	Het
Or8g24	A	G	9: 38,989,558 (GRCm39)	V161A	probably benign	Het
Or8s5	G	T	15: 98,238,659 (GRCm39)	H70Q	possibly damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Prdx6b	T	C	2: 80,123,404 (GRCm39)	L71P	probably damaging	Het
Prmt2	A	G	10: 76,062,055 (GRCm39)	I50T	probably damaging	Het
Ptdss1	T	C	13: 67,143,482 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,254,532 (GRCm39)	T138A	possibly damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rev3l	T	A	10: 39,699,393 (GRCm39)	S1297T	probably damaging	Het
Rgma	C	A	7: 73,067,564 (GRCm39)	T367K	probably damaging	Het
Rps6ka5	C	T	12: 100,564,144 (GRCm39)		probably null	Het
Rslcan18	A	T	13: 67,246,590 (GRCm39)	C217S	probably damaging	Het
Rtp3	A	G	9: 110,815,279 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,745,087 (GRCm39)	N3848K	probably damaging	Het
Sema6a	T	A	18: 47,381,779 (GRCm39)	T923S	probably benign	Het
Serpinb6d	A	T	13: 33,855,336 (GRCm39)	T337S	possibly damaging	Het
Sf3b1	G	A	1: 55,029,666 (GRCm39)	T1112M	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sidt1	A	T	16: 44,090,221 (GRCm39)	Y369*	probably null	Het
Slc16a6	A	G	11: 109,354,193 (GRCm39)	S59P	probably benign	Het
Slc25a17	A	C	15: 81,211,527 (GRCm39)	L163W	probably damaging	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Sptbn1	T	C	11: 30,087,197 (GRCm39)	T1081A	possibly damaging	Het
Sptbn4	T	C	7: 27,116,431 (GRCm39)	D456G	probably benign	Het
Sycp1	C	A	3: 102,760,805 (GRCm39)	A703S	possibly damaging	Het
Tas2r118	T	A	6: 23,969,225 (GRCm39)	M279L	probably benign	Het
Tc2n	T	G	12: 101,660,832 (GRCm39)	Q133H	probably benign	Het
Tctn1	A	G	5: 122,399,468 (GRCm39)		probably null	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tex10	A	T	4: 48,468,984 (GRCm39)	S64T	probably benign	Het
Tex15	A	G	8: 34,072,525 (GRCm39)	T2691A	probably benign	Het
Tmem175	A	T	5: 108,790,016 (GRCm39)	T123S	probably damaging	Het
Tsc1	C	A	2: 28,562,419 (GRCm39)	S348R	probably damaging	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Ttll8	A	T	15: 88,801,293 (GRCm39)	I465N	probably damaging	Het
Ubr3	A	G	2: 69,768,714 (GRCm39)		probably benign	Het
Ugdh	A	T	5: 65,580,695 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,437,215 (GRCm39)	L3326S	probably damaging	Het
Vmn2r125	A	T	4: 156,702,276 (GRCm39)	I21F	probably damaging	Het
Vps9d1	G	A	8: 123,975,351 (GRCm39)		probably benign	Het
Xab2	G	A	8: 3,668,117 (GRCm39)	R154C	possibly damaging	Het
Zbtb12	T	C	17: 35,114,475 (GRCm39)	S87P	probably damaging	Het
Zc3h12a	A	G	4: 125,014,686 (GRCm39)	M266T	probably damaging	Het
Zfp108	G	A	7: 23,959,837 (GRCm39)	A143T	probably benign	Het

Other mutations in Fmnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Fmnl3	APN	15	99,220,551 (GRCm39)	missense	probably damaging	1.00
IGL00672:Fmnl3	APN	15	99,223,562 (GRCm39)	missense	probably damaging	1.00
IGL00727:Fmnl3	APN	15	99,220,551 (GRCm39)	missense	probably damaging	1.00
IGL00754:Fmnl3	APN	15	99,220,551 (GRCm39)	missense	probably damaging	1.00
IGL00927:Fmnl3	APN	15	99,235,509 (GRCm39)	critical splice donor site	probably null
IGL02376:Fmnl3	APN	15	99,216,844 (GRCm39)	missense	possibly damaging	0.51
IGL02607:Fmnl3	APN	15	99,222,653 (GRCm39)	missense	probably damaging	1.00
IGL03323:Fmnl3	APN	15	99,219,162 (GRCm39)	missense	probably damaging	1.00
C9142:Fmnl3	UTSW	15	99,235,508 (GRCm39)	splice site	probably null
PIT4280001:Fmnl3	UTSW	15	99,219,134 (GRCm39)	critical splice donor site	probably null
R0003:Fmnl3	UTSW	15	99,219,013 (GRCm39)	missense	probably damaging	0.99
R0003:Fmnl3	UTSW	15	99,219,013 (GRCm39)	missense	probably damaging	0.99
R0116:Fmnl3	UTSW	15	99,220,619 (GRCm39)	splice site	probably benign
R0117:Fmnl3	UTSW	15	99,220,619 (GRCm39)	splice site	probably benign
R0137:Fmnl3	UTSW	15	99,220,619 (GRCm39)	splice site	probably benign
R0138:Fmnl3	UTSW	15	99,220,619 (GRCm39)	splice site	probably benign
R0701:Fmnl3	UTSW	15	99,219,188 (GRCm39)	missense	probably damaging	0.99
R2338:Fmnl3	UTSW	15	99,268,108 (GRCm39)	missense	probably benign	0.01
R3729:Fmnl3	UTSW	15	99,219,745 (GRCm39)	missense	probably damaging	0.99
R5346:Fmnl3	UTSW	15	99,229,871 (GRCm39)	missense	probably damaging	1.00
R5655:Fmnl3	UTSW	15	99,219,743 (GRCm39)	missense	probably damaging	0.99
R5916:Fmnl3	UTSW	15	99,219,709 (GRCm39)	missense	probably damaging	0.99
R5951:Fmnl3	UTSW	15	99,223,791 (GRCm39)	missense	probably damaging	1.00
R5954:Fmnl3	UTSW	15	99,223,791 (GRCm39)	missense	probably damaging	1.00
R5957:Fmnl3	UTSW	15	99,223,791 (GRCm39)	missense	probably damaging	1.00
R6334:Fmnl3	UTSW	15	99,235,534 (GRCm39)	missense	probably damaging	1.00
R6891:Fmnl3	UTSW	15	99,223,754 (GRCm39)	missense	probably damaging	1.00
R7182:Fmnl3	UTSW	15	99,219,663 (GRCm39)	missense	probably damaging	0.99
R7423:Fmnl3	UTSW	15	99,227,281 (GRCm39)	missense	probably damaging	0.99
R7952:Fmnl3	UTSW	15	99,220,518 (GRCm39)	missense	probably damaging	0.97
R7977:Fmnl3	UTSW	15	99,225,979 (GRCm39)	missense	possibly damaging	0.89
R7987:Fmnl3	UTSW	15	99,225,979 (GRCm39)	missense	possibly damaging	0.89
R8749:Fmnl3	UTSW	15	99,219,322 (GRCm39)	missense	possibly damaging	0.88
R9397:Fmnl3	UTSW	15	99,225,938 (GRCm39)	critical splice donor site	probably null
R9598:Fmnl3	UTSW	15	99,223,210 (GRCm39)	missense	probably damaging	1.00
X0009:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0010:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0011:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0012:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0014:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0017:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0021:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0023:Fmnl3	UTSW	15	99,223,165 (GRCm39)	missense	probably damaging	1.00
X0023:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0028:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0033:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0060:Fmnl3	UTSW	15	99,217,919 (GRCm39)	missense	possibly damaging	0.69
X0064:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0067:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGACTACAGTACTGGCCTC -3'
(R):5'- GGAACTGACTATAGAGCCTTCAG -3'

Sequencing Primer
(F):5'- TCCCGGCTTGGAAGTCC -3'
(R):5'- GACTATAGAGCCTTCAGCCCATTC -3'

Posted On

2015-10-21