Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00648:Fmnl3'

277840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmnl3

Ensembl Gene

ENSMUSG00000023008

Gene Name

formin-like 3

Synonyms

2700073B04Rik, Wbp3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

IGL00648

Quality Score

Status

Chromosome

Chromosomal Location

99215106-99268363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99220551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 577 (T577I)

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: T526I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: T526I

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: T577I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: T577I

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: T577I

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

SMART Domains

Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: T577I

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

Coding Region Coverage

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cage1	G	T	13: 38,206,969 (GRCm39)	S398*	probably null	Het
Calr	T	A	8: 85,569,331 (GRCm39)		probably benign	Het
Cmah	A	T	13: 24,644,259 (GRCm39)	K459*	probably null	Het
Edem1	T	A	6: 108,828,168 (GRCm39)		probably null	Het
Elp4	A	T	2: 105,672,711 (GRCm39)		probably benign	Het
Fam3b	C	T	16: 97,279,599 (GRCm39)	G110E	probably damaging	Het
Nbea	A	G	3: 55,916,681 (GRCm39)	S860P	probably damaging	Het
Nlrp1a	T	C	11: 70,983,783 (GRCm39)	T1082A	probably benign	Het
Pbrm1	A	T	14: 30,774,240 (GRCm39)	I469F	probably damaging	Het
Ptprq	G	A	10: 107,482,577 (GRCm39)	L999F	probably benign	Het
Taar6	C	T	10: 23,861,406 (GRCm39)	V47M	probably benign	Het
Tom1l2	T	C	11: 60,151,942 (GRCm39)	Y155C	possibly damaging	Het

Other mutations in Fmnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4707:Fmnl3	UTSW	15	99,221,362 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16