Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Fmnl3'

471244

Institutional Source

Beutler Lab

Gene Symbol

Fmnl3

Ensembl Gene

ENSMUSG00000023008

Gene Name

formin-like 3

Synonyms

Wbp3, 2700073B04Rik

MMRRC Submission

043246-MU

Accession Numbers

Genbank: NM_011711; MGI: 109569

Essential gene?

Possibly essential (E-score: 0.582) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99317225-99370482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99325910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 302 (R302W)

Ref Sequence

ENSEMBL: ENSMUSP00000085566 (fasta)

Gene Model

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

AlphaFold

Q6ZPF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000081224
AA Change: R251W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: R251W

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 damaging
Transcript: ENSMUST00000088233
AA Change: R302W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: R302W

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 damaging
Transcript: ENSMUST00000120633
AA Change: R302W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: R302W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,070,161	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,773,427	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,570,537	Y286*	probably null	Het
Armc4	T	C	18: 7,285,706	E219G	probably benign	Het
Arpp21	T	C	9: 112,185,686	T17A	probably benign	Het
Atp5s	T	C	12: 69,743,784	V185A	probably benign	Het
Bnip2	T	C	9: 69,999,238	I147T	probably damaging	Het
Ccr8	T	C	9: 120,093,827	Y3H	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cul7	G	A	17: 46,657,757	G553S	probably damaging	Het
Cyp21a1	A	G	17: 34,803,176	I206T	probably benign	Het
Dennd4b	A	G	3: 90,270,965	D488G	probably damaging	Het
Dip2b	T	C	15: 100,209,694	L1195P	probably benign	Het
Dock5	T	A	14: 67,857,994	H77L	probably benign	Het
Fbxw13	C	T	9: 109,192,666		probably null	Het
Gbf1	G	T	19: 46,246,221		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm4846	T	C	1: 166,486,953	I374V	probably benign	Het
Gsk3b	C	A	16: 38,193,953	P258T	probably damaging	Het
Igsf5	T	C	16: 96,364,049	V8A	probably benign	Het
Il22	T	A	10: 118,205,166	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,725,534	*517Q	probably null	Het
Iqca	T	A	1: 90,080,948	D450V	probably damaging	Het
Itga5	T	C	15: 103,351,429	D647G	probably benign	Het
Myh7	T	G	14: 54,989,078	N408T	probably damaging	Het
Mylk3	T	C	8: 85,328,637	M564V	probably damaging	Het
Nsd2	T	A	5: 33,855,603	M407K	probably damaging	Het
Oprd1	C	T	4: 132,144,163	V75I	probably benign	Het
Poli	G	A	18: 70,517,440	H310Y	probably benign	Het
Ptch1	C	T	13: 63,525,115	R755H	probably damaging	Het
Pygl	A	T	12: 70,199,720	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,039,848	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,344,342	V555A	probably benign	Het
Slc8a2	C	A	7: 16,145,284	T565K	possibly damaging	Het
Snx14	T	C	9: 88,403,274	I446V	possibly damaging	Het
Syde1	T	C	10: 78,590,117	Y72C	probably damaging	Het
Trim37	C	T	11: 87,145,551	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,814,962	S530R	probably benign	Het
Vps13c	T	C	9: 67,954,971	S2957P	probably damaging	Het
Wdr41	T	C	13: 94,997,187		probably null	Het
Zyg11b	T	C	4: 108,245,013	K504E	probably damaging	Het

Other mutations in Fmnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Fmnl3	APN	15	99322670	missense	probably damaging	1.00
IGL00672:Fmnl3	APN	15	99325681	missense	probably damaging	1.00
IGL00727:Fmnl3	APN	15	99322670	missense	probably damaging	1.00
IGL00754:Fmnl3	APN	15	99322670	missense	probably damaging	1.00
IGL00927:Fmnl3	APN	15	99337628	critical splice donor site	probably null
IGL02376:Fmnl3	APN	15	99318963	missense	possibly damaging	0.51
IGL02607:Fmnl3	APN	15	99324772	missense	probably damaging	1.00
IGL03323:Fmnl3	APN	15	99321281	missense	probably damaging	1.00
C9142:Fmnl3	UTSW	15	99337627	splice site	probably null
PIT4280001:Fmnl3	UTSW	15	99321253	critical splice donor site	probably null
R0003:Fmnl3	UTSW	15	99321132	missense	probably damaging	0.99
R0003:Fmnl3	UTSW	15	99321132	missense	probably damaging	0.99
R0116:Fmnl3	UTSW	15	99322738	splice site	probably benign
R0117:Fmnl3	UTSW	15	99322738	splice site	probably benign
R0137:Fmnl3	UTSW	15	99322738	splice site	probably benign
R0138:Fmnl3	UTSW	15	99322738	splice site	probably benign
R0701:Fmnl3	UTSW	15	99321307	missense	probably damaging	0.99
R2338:Fmnl3	UTSW	15	99370227	missense	probably benign	0.01
R3729:Fmnl3	UTSW	15	99321864	missense	probably damaging	0.99
R4707:Fmnl3	UTSW	15	99323481	missense	probably benign	0.00
R5346:Fmnl3	UTSW	15	99331990	missense	probably damaging	1.00
R5655:Fmnl3	UTSW	15	99321862	missense	probably damaging	0.99
R5916:Fmnl3	UTSW	15	99321828	missense	probably damaging	0.99
R5951:Fmnl3	UTSW	15	99325910	missense	probably damaging	1.00
R5954:Fmnl3	UTSW	15	99325910	missense	probably damaging	1.00
R6334:Fmnl3	UTSW	15	99337653	missense	probably damaging	1.00
R6891:Fmnl3	UTSW	15	99325873	missense	probably damaging	1.00
R7182:Fmnl3	UTSW	15	99321782	missense	probably damaging	0.99
R7423:Fmnl3	UTSW	15	99329400	missense	probably damaging	0.99
R7952:Fmnl3	UTSW	15	99322637	missense	probably damaging	0.97
R7977:Fmnl3	UTSW	15	99328098	missense	possibly damaging	0.89
R7987:Fmnl3	UTSW	15	99328098	missense	possibly damaging	0.89
R8749:Fmnl3	UTSW	15	99321441	missense	possibly damaging	0.88
R9397:Fmnl3	UTSW	15	99328057	critical splice donor site	probably null
R9598:Fmnl3	UTSW	15	99325329	missense	probably damaging	1.00
X0009:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0010:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0011:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0012:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0014:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0017:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0021:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0023:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0023:Fmnl3	UTSW	15	99325284	missense	probably damaging	1.00
X0028:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0033:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0060:Fmnl3	UTSW	15	99320038	missense	possibly damaging	0.69
X0064:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0067:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGAGTGCACCACAATGTTG -3'
(R):5'- TCTGGTGTCCAAAATGGCAC -3'

Sequencing Primer
(F):5'- GTGCACCACAATGTTGATGAACTG -3'
(R):5'- TGGCCTGAAACTATGGCAGTC -3'

Posted On

2017-03-31