Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02238:Fmn1'

285978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

formin-1, Fmn

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

IGL02238

Quality Score

Status

Chromosome

Chromosomal Location

113158081-113547112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113412470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 870 (V870A)

Ref Sequence

ENSEMBL: ENSMUSP00000080093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081349] [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]

AlphaFold

Q05860

PDB Structure

FBP28WW2 domain in complex with the PPLIPPPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with PTPPPLPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with a PPPLIPPPP peptide [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081349
AA Change: V870A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: V870A

Domain	Start	End	E-Value	Type
Blast:FH2	25	641	N/A	BLAST
SCOP:d1jvr__	668	699	2e-3	SMART
FH2	757	1162	1.16e-137	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099576
AA Change: V1096A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: V1096A

Domain	Start	End	E-Value	Type
low complexity region	159	173	N/A	INTRINSIC
Blast:FH2	352	861	N/A	BLAST
SCOP:d1jvr__	894	925	2e-3	SMART
FH2	983	1388	1.16e-137	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102547
AA Change: V1096A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: V1096A

Domain	Start	End	E-Value	Type
low complexity region	159	173	N/A	INTRINSIC
Blast:FH2	352	861	N/A	BLAST
SCOP:d1jvr__	894	925	2e-3	SMART
FH2	983	1424	1.03e-134	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161731
AA Change: V998A

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: V998A

Domain	Start	End	E-Value	Type
low complexity region	159	173	N/A	INTRINSIC
Blast:FH2	352	619	1e-62	BLAST
Blast:FH2	625	765	3e-53	BLAST
SCOP:d1jvr__	796	827	2e-3	SMART
FH2	885	1290	1.16e-137	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for spontaneous, irradiation-induced, and transgene-insertional mutations show severe syndactyly and oligodactyly of the feet, abnormal long bones (including radius-ulna fusions), and reduced or absent kidneys. Many mutants survive and breed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,995,829 (GRCm39)	I1322N	probably benign	Het
Adamts1	A	T	16: 85,592,713 (GRCm39)	M565K	probably benign	Het
Akr1b7	T	A	6: 34,392,333 (GRCm39)	Y49N	probably damaging	Het
Cacna2d2	T	A	9: 107,390,757 (GRCm39)	V363E	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh10	C	T	15: 19,013,605 (GRCm39)	T735I	probably damaging	Het
Cds1	T	A	5: 101,962,302 (GRCm39)	C306S	possibly damaging	Het
Cfap251	T	C	5: 123,440,486 (GRCm39)	Y1091H	probably damaging	Het
Clasp2	T	C	9: 113,709,088 (GRCm39)	C644R	probably damaging	Het
Coil	T	C	11: 88,872,580 (GRCm39)	S314P	probably benign	Het
D630045J12Rik	T	A	6: 38,173,329 (GRCm39)	M280L	probably benign	Het
Dmxl2	C	T	9: 54,352,717 (GRCm39)	V795M	probably damaging	Het
Dock10	A	G	1: 80,511,510 (GRCm39)	V1533A	probably damaging	Het
Fbxo40	T	C	16: 36,789,536 (GRCm39)	N525D	possibly damaging	Het
Fezf2	T	C	14: 12,344,494 (GRCm38)	E231G	probably damaging	Het
Ifi44	A	G	3: 151,438,019 (GRCm39)	*423Q	probably null	Het
Invs	T	C	4: 48,390,029 (GRCm39)	V173A	probably damaging	Het
Krt88	A	G	15: 101,350,486 (GRCm39)		probably benign	Het
Mctp2	A	T	7: 71,739,953 (GRCm39)	Y812*	probably null	Het
Neto2	T	C	8: 86,396,292 (GRCm39)	I118V	probably damaging	Het
Nutm2	T	G	13: 50,625,075 (GRCm39)	M264R	probably damaging	Het
Or2d2	A	G	7: 106,728,244 (GRCm39)	S119P	probably damaging	Het
Or8u8	T	C	2: 86,011,939 (GRCm39)		probably null	Het
Pcnx1	G	A	12: 81,964,688 (GRCm39)	R285Q	probably damaging	Het
Pi16	G	T	17: 29,545,269 (GRCm39)	K177N	probably damaging	Het
Pigg	C	T	5: 108,466,794 (GRCm39)	S225F	possibly damaging	Het
Prrc2b	T	A	2: 32,103,429 (GRCm39)	V969E	probably damaging	Het
Rab4b	A	C	7: 26,872,154 (GRCm39)	Y189D	probably benign	Het
Ran	A	G	5: 129,099,246 (GRCm39)	N143D	possibly damaging	Het
Rfc4	A	T	16: 22,933,219 (GRCm39)	F286L	probably damaging	Het
Sel1l2	T	C	2: 140,089,859 (GRCm39)	Y418C	probably damaging	Het
Slc13a1	T	C	6: 24,103,482 (GRCm39)	I354V	probably benign	Het
Slc7a2	A	T	8: 41,361,193 (GRCm39)	T386S	probably benign	Het
Tm2d2	G	T	8: 25,512,787 (GRCm39)	V212F	probably benign	Het
Tmem247	A	T	17: 87,225,721 (GRCm39)	N54Y	probably damaging	Het
Txnrd3	T	A	6: 89,633,117 (GRCm39)	Y206N	probably benign	Het
Uba5	T	C	9: 103,931,259 (GRCm39)		probably benign	Het
Vmn2r54	A	G	7: 12,369,910 (GRCm39)	L51P	probably damaging	Het
Zfp735	A	G	11: 73,601,319 (GRCm39)	K88E	probably benign	Het

Other mutations in Fmn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Fmn1	APN	2	113,274,812 (GRCm39)	intron	probably benign
IGL01520:Fmn1	APN	2	113,274,713 (GRCm39)	intron	probably benign
IGL02039:Fmn1	APN	2	113,195,425 (GRCm39)	missense	unknown
IGL02222:Fmn1	APN	2	113,423,454 (GRCm39)	missense	probably damaging	1.00
IGL02373:Fmn1	APN	2	113,194,471 (GRCm39)	missense	unknown
IGL02490:Fmn1	APN	2	113,359,817 (GRCm39)	splice site	probably benign
IGL02506:Fmn1	APN	2	113,355,640 (GRCm39)	missense	unknown
IGL02684:Fmn1	APN	2	113,355,622 (GRCm39)	missense	unknown
IGL03008:Fmn1	APN	2	113,195,445 (GRCm39)	missense	unknown
IGL03058:Fmn1	APN	2	113,272,159 (GRCm39)	intron	probably benign
IGL03076:Fmn1	APN	2	113,414,437 (GRCm39)	missense	probably damaging	0.99
FR4304:Fmn1	UTSW	2	113,356,128 (GRCm39)	small insertion	probably benign
FR4304:Fmn1	UTSW	2	113,356,119 (GRCm39)	small insertion	probably benign
FR4342:Fmn1	UTSW	2	113,356,128 (GRCm39)	small insertion	probably benign
FR4589:Fmn1	UTSW	2	113,356,119 (GRCm39)	small insertion	probably benign
FR4589:Fmn1	UTSW	2	113,356,118 (GRCm39)	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113,356,129 (GRCm39)	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113,356,126 (GRCm39)	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113,356,123 (GRCm39)	small insertion	probably benign
R0349:Fmn1	UTSW	2	113,196,141 (GRCm39)	missense	unknown
R0452:Fmn1	UTSW	2	113,467,124 (GRCm39)	missense	possibly damaging	0.46
R0529:Fmn1	UTSW	2	113,538,198 (GRCm39)	splice site	probably benign
R1215:Fmn1	UTSW	2	113,523,375 (GRCm39)	nonsense	probably null
R1471:Fmn1	UTSW	2	113,523,439 (GRCm39)	missense	possibly damaging	0.95
R1489:Fmn1	UTSW	2	113,195,557 (GRCm39)	missense	unknown
R1491:Fmn1	UTSW	2	113,426,714 (GRCm39)	missense	probably damaging	1.00
R1551:Fmn1	UTSW	2	113,356,207 (GRCm39)	missense	possibly damaging	0.70
R1558:Fmn1	UTSW	2	113,523,463 (GRCm39)	missense	possibly damaging	0.46
R1588:Fmn1	UTSW	2	113,196,043 (GRCm39)	missense	unknown
R1602:Fmn1	UTSW	2	113,355,968 (GRCm39)	missense	unknown
R1690:Fmn1	UTSW	2	113,355,827 (GRCm39)	missense	unknown
R1772:Fmn1	UTSW	2	113,195,700 (GRCm39)	missense	unknown
R1867:Fmn1	UTSW	2	113,539,783 (GRCm39)	missense	probably damaging	1.00
R1923:Fmn1	UTSW	2	113,260,066 (GRCm39)	intron	probably benign
R1941:Fmn1	UTSW	2	113,195,488 (GRCm39)	missense	unknown
R2019:Fmn1	UTSW	2	113,194,825 (GRCm39)	missense	unknown
R2140:Fmn1	UTSW	2	113,425,393 (GRCm39)	missense	probably benign	0.45
R2164:Fmn1	UTSW	2	113,195,962 (GRCm39)	missense	unknown
R2395:Fmn1	UTSW	2	113,195,526 (GRCm39)	missense	unknown
R2999:Fmn1	UTSW	2	113,195,439 (GRCm39)	missense	unknown
R3405:Fmn1	UTSW	2	113,194,693 (GRCm39)	missense	unknown
R3407:Fmn1	UTSW	2	113,195,400 (GRCm39)	missense	unknown
R3771:Fmn1	UTSW	2	113,412,463 (GRCm39)	missense	probably damaging	1.00
R3772:Fmn1	UTSW	2	113,412,463 (GRCm39)	missense	probably damaging	1.00
R3773:Fmn1	UTSW	2	113,412,463 (GRCm39)	missense	probably damaging	1.00
R3777:Fmn1	UTSW	2	113,195,467 (GRCm39)	missense	unknown
R4166:Fmn1	UTSW	2	113,467,080 (GRCm39)	missense	probably benign	0.33
R4477:Fmn1	UTSW	2	113,274,744 (GRCm39)	intron	probably benign
R4614:Fmn1	UTSW	2	113,195,494 (GRCm39)	missense	unknown
R4701:Fmn1	UTSW	2	113,414,416 (GRCm39)	missense	possibly damaging	0.76
R4867:Fmn1	UTSW	2	113,414,465 (GRCm39)	critical splice donor site	probably null
R5063:Fmn1	UTSW	2	113,195,266 (GRCm39)	missense	unknown
R5224:Fmn1	UTSW	2	113,195,470 (GRCm39)	missense	unknown
R5510:Fmn1	UTSW	2	113,426,714 (GRCm39)	missense	probably damaging	1.00
R6083:Fmn1	UTSW	2	113,194,648 (GRCm39)	missense	unknown
R6234:Fmn1	UTSW	2	113,196,000 (GRCm39)	missense	unknown
R6266:Fmn1	UTSW	2	113,426,683 (GRCm39)	missense	probably damaging	1.00
R6764:Fmn1	UTSW	2	113,355,560 (GRCm39)	missense	unknown
R7054:Fmn1	UTSW	2	113,195,353 (GRCm39)	missense	unknown
R7311:Fmn1	UTSW	2	113,356,025 (GRCm39)	missense	unknown
R7439:Fmn1	UTSW	2	113,271,956 (GRCm39)	missense	unknown
R7440:Fmn1	UTSW	2	113,271,956 (GRCm39)	missense	unknown
R7441:Fmn1	UTSW	2	113,271,956 (GRCm39)	missense	unknown
R7444:Fmn1	UTSW	2	113,271,956 (GRCm39)	missense	unknown
R7461:Fmn1	UTSW	2	113,194,416 (GRCm39)	missense	unknown
R7526:Fmn1	UTSW	2	113,518,479 (GRCm39)	missense	probably damaging	0.99
R7540:Fmn1	UTSW	2	113,359,655 (GRCm39)	splice site	probably null
R7576:Fmn1	UTSW	2	113,195,353 (GRCm39)	missense	unknown
R7657:Fmn1	UTSW	2	113,355,538 (GRCm39)	missense	unknown
R7669:Fmn1	UTSW	2	113,195,822 (GRCm39)	missense	unknown
R7713:Fmn1	UTSW	2	113,356,159 (GRCm39)	missense	unknown
R7841:Fmn1	UTSW	2	113,359,810 (GRCm39)	critical splice donor site	probably null
R7953:Fmn1	UTSW	2	113,426,689 (GRCm39)	missense	probably benign	0.03
R7959:Fmn1	UTSW	2	113,195,967 (GRCm39)	missense	unknown
R8041:Fmn1	UTSW	2	113,194,939 (GRCm39)	missense	unknown
R8152:Fmn1	UTSW	2	113,196,037 (GRCm39)	missense	unknown
R8203:Fmn1	UTSW	2	113,355,620 (GRCm39)	missense	unknown
R8318:Fmn1	UTSW	2	113,195,502 (GRCm39)	missense	unknown
R8356:Fmn1	UTSW	2	113,195,385 (GRCm39)	missense	unknown
R8456:Fmn1	UTSW	2	113,195,385 (GRCm39)	missense	unknown
R8698:Fmn1	UTSW	2	113,260,152 (GRCm39)	missense	unknown
R8861:Fmn1	UTSW	2	113,195,149 (GRCm39)	missense	unknown
R8907:Fmn1	UTSW	2	113,355,914 (GRCm39)	missense	unknown
R9147:Fmn1	UTSW	2	113,271,973 (GRCm39)	missense	unknown
R9148:Fmn1	UTSW	2	113,271,973 (GRCm39)	missense	unknown
R9536:Fmn1	UTSW	2	113,309,262 (GRCm39)	missense	unknown
R9574:Fmn1	UTSW	2	113,425,402 (GRCm39)	missense	probably damaging	1.00
R9577:Fmn1	UTSW	2	113,194,470 (GRCm39)	missense	unknown
RF003:Fmn1	UTSW	2	113,356,131 (GRCm39)	small insertion	probably benign
Z1088:Fmn1	UTSW	2	113,272,270 (GRCm39)	intron	probably benign

Posted On

2015-04-16